Datasets:
RaduGabriel
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human-gene-gnorm-dataset

Dataset card Data Studio Files
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[ { "location": { "length": 96, "offset": 0 }, "text": "Clopidogrel pharmacogenomics and risk of inadequate platelet inhibition: US FDA recommendations.", "type": "title" }, { "location": { "length": 1052, "offset": 97 }, "text": "Antiplatelet therapy with clopidogrel is the current standard of care for coronary artery disease patients undergoing a percutaneous coronary intervention. However, approximately 25% of patients experience a subtherapeutic antiplatelet response. Clopidogrel is a prodrug that undergoes hepatic biotransformation by CYP2C19 into its active metabolite. Several studies have reported that, compared with wild-type individuals, CYP2C19 variant allele carriers exhibit a significantly lower capacity to metabolize clopidogrel into its active metabolite and inhibit platelet activation, and are therefore at significantly higher risk of adverse cardiovascular events. Consequently, the US FDA has recently changed clopidogrel's prescribing information to highlight the impact of CYP2C19 genotype on clopidogrel pharmacokinetics, pharmacodynamics and clinical response. Future studies remain necessary to develop effective personalized therapeutic strategies for CYP2C19 variant allele carriers and other individuals at risk for clopidogrel nonresponsiveness.", "type": "abstract" } ]
[ { "id": "6050", "normalized": [ { "db_id": "1557", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 412, 419 ] ], "text": [ "CYP2C19" ], "type": "Gene" }, { "id": "6051", "normalized": [ { "db_id": "1557", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 521, 528 ] ], "text": [ "CYP2C19" ], "type": "Gene" }, { "id": "6052", "normalized": [ { "db_id": "1557", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 870, 877 ] ], "text": [ "CYP2C19" ], "type": "Gene" }, { "id": "6053", "normalized": [ { "db_id": "1557", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1053, 1060 ] ], "text": [ "CYP2C19" ], "type": "Gene" }, { "id": "6050", "normalized": [ { "db_id": "1557", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 412, 419 ] ], "text": [ "CYP2C19" ], "type": "Gene" }, { "id": "6051", "normalized": [ { "db_id": "1557", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 521, 528 ] ], "text": [ "CYP2C19" ], "type": "Gene" }, { "id": "6052", "normalized": [ { "db_id": "1557", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 870, 877 ] ], "text": [ "CYP2C19" ], "type": "Gene" }, { "id": "6053", "normalized": [ { "db_id": "1557", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1053, 1060 ] ], "text": [ "CYP2C19" ], "type": "Gene" } ]
[ { "location": { "length": 100, "offset": 0 }, "text": "Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.", "type": "title" }, { "location": { "length": 1707, "offset": 101 }, "text": "The \"Osteopetroses\" are genetic diseases whose clinical picture is caused by a defect in bone resorption by osteoclasts. Three main forms can be distinguished on the basis of severity, age of onset and means of inheritance: the dominant benign, the intermediate and the recessive severe form. While several genes have been involved in the pathogenesis of the different types of osteopetroses, the CLCN7 gene has drawn the attention of many researchers, as mutations within this gene are associated with very different phenotypes. We report here the characterization of 25 unpublished patients which has resulted in the identification of 20 novel mutations, including 11 missense mutations, 6 causing premature termination, 1 small deletion and 2 putative splice site defects. Careful analysis of clinical and molecular data led us to several conclusions. First, intermediate osteopetrosis is not homogeneous, since it can comprise both severe dominant forms with an early onset and recessive ones without central nervous system involvement. Second, the appropriateness of haematopoietic stem cell transplantation in CLCN7-dependent ARO patients has to be carefully evaluated and exhaustive CNS examination is strongly suggested, as transplantation can almost completely cure the disease in situations where no primary neurological symptoms are present. Finally, the analysis of this largest cohort of CLCN7-dependent ARO patients together with some ADO II families allowed us to draw preliminary genotype-phenotype correlations suggesting that haploinsufficiency is not the mechanism causing ADO II. The availability of biochemical assays to characterize ClC-7 function will help to confirm this hypothesis.", "type": "abstract" } ]
[ { "id": "6056", "normalized": [ { "db_id": "1186", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 40, 45 ] ], "text": [ "CLCN7" ], "type": "Gene" }, { "id": "6057", "normalized": [ { "db_id": "1186", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 498, 503 ] ], "text": [ "CLCN7" ], "type": "Gene" }, { "id": "6058", "normalized": [ { "db_id": "1186", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1217, 1222 ] ], "text": [ "CLCN7" ], "type": "Gene" }, { "id": "6059", "normalized": [ { "db_id": "1186", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1502, 1507 ] ], "text": [ "CLCN7" ], "type": "Gene" }, { "id": "6062", "normalized": [ { "db_id": "1186", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1756, 1761 ] ], "text": [ "ClC-7" ], "type": "Gene" }, { "id": "6056", "normalized": [ { "db_id": "1186", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 40, 45 ] ], "text": [ "CLCN7" ], "type": "Gene" }, { "id": "6057", "normalized": [ { "db_id": "1186", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 498, 503 ] ], "text": [ "CLCN7" ], "type": "Gene" }, { "id": "6058", "normalized": [ { "db_id": "1186", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1217, 1222 ] ], "text": [ "CLCN7" ], "type": "Gene" }, { "id": "6059", "normalized": [ { "db_id": "1186", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1502, 1507 ] ], "text": [ "CLCN7" ], "type": "Gene" }, { "id": "6062", "normalized": [ { "db_id": "1186", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1756, 1761 ] ], "text": [ "ClC-7" ], "type": "Gene" } ]
[ { "location": { "length": 134, "offset": 0 }, "text": "Association and functional analyses of MEF2A as a susceptibility gene for premature myocardial infarction and coronary artery disease.", "type": "title" }, { "location": { "length": 1484, "offset": 135 }, "text": "BACKGROUND: Mutations in the MEF2A gene, coding for a member of the myocyte enhancer factor 2 family of transcription factors, have been reported in patients with coronary artery disease and myocardial infarction (MI). In particular, a 21-bp deletion and 3 missense mutations were demonstrated either to reduce MEF2A transcriptional activity or to impair its nuclear translocation. However, the association of MEF2A with coronary artery disease/MI was not confirmed in other studies. We analyzed the role of MEF2A in the pathogenesis of MI in 2008 Italian patients with premature MI and in 2008 controls. METHODS AND RESULTS: Mutational screening of exon 8 (containing all so-far reported point mutations) disclosed 5 novel and 2 previously described missense mutations. Microsatellite genotyping and sequencing revealed the presence of the 21-bp deletion (located in exon 12) in 5 cases and in none of the controls. Functional studies on mutant proteins showed no alteration, neither in the transactivating properties (all mutants) nor in the nuclear localization (21-bp deletion). Furthermore, an association analysis performed using 3 microsatellites at the MEF2A locus showed no significant association with MI. These results were confirmed in a replication study performed on an independent Italian population with coronary artery disease. CONCLUSIONS: All together, our data do not support MEF2A as a susceptibility gene for coronary artery disease/MI in the Italian population.", "type": "abstract" } ]
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[ { "location": { "length": 63, "offset": 0 }, "text": "Novel and recurrent p14 mutations in Italian familial melanoma.", "type": "title" }, { "location": { "length": 1631, "offset": 64 }, "text": "CDKN2A and CDK4 are the only known high-penetrant genes conferring proneness to cutaneous melanoma. The CDKN2A locus consists of four exons and encodes several alternate transcripts, two of which are p16(INK4a) and p14(ARF), and originate from different open reading frames. Exon 1alpha is specific for p16(INK4a), while exon 1beta characterizes p14(ARF). Most CDKN2A mutations are located in exons 1alpha and 2, while exon 1beta variations have been identified in rare melanoma-prone pedigrees. In a previous study, we investigated 155 Italian melanoma cases, including 94 familial melanomas (FAMs) and 61 sporadic multiple primary melanomas (MPMs), for p16(INK4a)/CDK4 germline alterations and identified 15 p16(INK4a) and 1 CDK4 point mutations. In the present work, we extended our search to p14(ARF) mutations and CDKN2A deletions in the remaining samples. We identified the recurrent g.193+1G> A mutation in two FAM cases, while an additional pedigree displayed the previously undescribed variant g.161G> A. Multiplex ligation-dependent probe amplification (MLPA) screening for copy variations resulted negative in all cases. In Italy, the overall frequency of p14(ARF) mutations is 3.2% in FAM and 0% in sporadic MPM. Re-evaluation of our patients' cohort emphasizes that the chance of identifying CDKN2A/CDK4 mutations in FAM is mainly influenced by the number of affected family members and the presence of one or more MPM cases. Accordingly, mutation rate rises to 61% in selected cases. Further studies are expected in order to investigate CDKN2A rarer mutations, including atypical deletions and inherited epimutations.", "type": "abstract" } ]
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"db_id": "1029", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 279, 282 ] ], "text": [ "p14" ], "type": "Gene" }, { "id": "6082", "normalized": [ { "db_id": "1029", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 283, 286 ] ], "text": [ "ARF" ], "type": "Gene" }, { "id": "6083", "normalized": [ { "db_id": "1029", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 367, 370 ] ], "text": [ "p16" ], "type": "Gene" }, { "id": "6084", "normalized": [ { "db_id": "1029", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 371, 376 ] ], "text": [ "INK4a" ], "type": "Gene" }, { "id": "6085", "normalized": [ { "db_id": "1029", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 410, 413 ] ], "text": [ "p14" ], "type": "Gene" }, { "id": "6086", "normalized": [ { "db_id": "1029", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 414, 417 ] ], "text": [ "ARF" ], "type": "Gene" }, { "id": "6087", "normalized": [ { "db_id": "1029", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 425, 431 ] ], "text": [ "CDKN2A" ], "type": "Gene" }, { "id": "6088", "normalized": [ { "db_id": "1029", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 719, 722 ] ], "text": [ "p16" ], "type": "Gene" }, { "id": "6089", "normalized": [ { "db_id": "1029", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 723, 728 ] ], "text": [ "INK4a" ], "type": "Gene" }, { "id": "6090", "normalized": [ { "db_id": "1019", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 730, 734 ] ], "text": [ "CDK4" ], "type": "Gene" }, { "id": "6091", "normalized": [ { "db_id": "1029", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 774, 777 ] ], "text": [ "p16" ], "type": "Gene" }, { "id": "6092", "normalized": [ { "db_id": "1029", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 778, 783 ] ], "text": [ "INK4a" ], "type": "Gene" }, { "id": "6093", "normalized": [ { "db_id": "1019", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 791, 795 ] ], "text": [ "CDK4" ], "type": "Gene" }, { "id": "6094", "normalized": [ { "db_id": "1029", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 860, 863 ] ], "text": [ "p14" ], "type": "Gene" }, { "id": "6095", "normalized": [ { "db_id": "1029", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 864, 867 ] ], "text": [ "ARF" ], "type": "Gene" }, { "id": "6096", "normalized": [ { "db_id": "1029", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 883, 889 ] ], "text": [ "CDKN2A" ], "type": "Gene" }, { "id": "6097", "normalized": [ { "db_id": "1029", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1231, 1234 ] ], "text": [ "p14" ], "type": "Gene" }, { "id": "6098", "normalized": [ { "db_id": "1029", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1235, 1238 ] ], "text": [ "ARF" ], "type": "Gene" }, { "id": "6099", "normalized": [ { "db_id": "1029", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1369, 1375 ] ], "text": [ "CDKN2A" ], "type": "Gene" }, { "id": "6100", "normalized": [ { "db_id": "1019", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1376, 1380 ] ], "text": [ "CDK4" ], "type": "Gene" }, { "id": "6101", "normalized": [ { "db_id": "1029", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1615, 1621 ] ], "text": [ "CDKN2A" ], "type": "Gene" }, { "id": "6075", "normalized": [ { "db_id": "1029", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 20, 23 ] ], "text": [ "p14" ], "type": "Gene" }, { "id": "6076", "normalized": [ { "db_id": "1029", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 64, 70 ] ], "text": [ "CDKN2A" ], "type": "Gene" }, { "id": "6077", "normalized": [ { "db_id": "1019", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 75, 79 ] ], "text": [ "CDK4" ], "type": "Gene" }, { "id": "6078", "normalized": [ { "db_id": "1029", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 168, 174 ] ], "text": [ "CDKN2A" ], "type": 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"db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 774, 777 ] ], "text": [ "p16" ], "type": "Gene" }, { "id": "6092", "normalized": [ { "db_id": "1029", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 778, 783 ] ], "text": [ "INK4a" ], "type": "Gene" }, { "id": "6093", "normalized": [ { "db_id": "1019", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 791, 795 ] ], "text": [ "CDK4" ], "type": "Gene" }, { "id": "6094", "normalized": [ { "db_id": "1029", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 860, 863 ] ], "text": [ "p14" ], "type": "Gene" }, { "id": "6095", "normalized": [ { "db_id": "1029", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 864, 867 ] ], "text": [ "ARF" ], "type": "Gene" }, { "id": "6096", "normalized": [ { "db_id": "1029", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 883, 889 ] ], "text": [ "CDKN2A" ], "type": "Gene" }, { "id": "6097", "normalized": [ { "db_id": "1029", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1231, 1234 ] ], "text": [ "p14" ], "type": "Gene" }, { "id": "6098", "normalized": [ { "db_id": "1029", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1235, 1238 ] ], "text": [ "ARF" ], "type": "Gene" }, { "id": "6099", "normalized": [ { "db_id": "1029", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1369, 1375 ] ], "text": [ "CDKN2A" ], "type": "Gene" }, { "id": "6100", "normalized": [ { "db_id": "1019", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1376, 1380 ] ], "text": [ "CDK4" ], "type": "Gene" }, { "id": "6101", "normalized": [ { "db_id": "1029", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1615, 1621 ] ], "text": [ "CDKN2A" ], "type": "Gene" } ]
[ { "location": { "length": 124, "offset": 0 }, "text": "Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3.", "type": "title" }, { "location": { "length": 1161, "offset": 125 }, "text": "Alport syndrome with intellectual disability (ID) is a contiguous gene deletion syndrome involving several genes on Xq22.3 including COL4A5 and ACSL4. We report on a family with two males with this disorder and a Xq22.3 deletion. Fluorescent in situ hybridization and genomic analyses mapped the deletion region to between exon 1 of COL4A5 and exon 12 of ACSL4. The patients' mother has microscopic hematuria and was found to be heterozygous for the Xq22.3 deletion. Analysis using reverse transcription polymerase chain reaction of lymphoblastoid cell line RNA from an affected male in the family revealed a stable chimeric transcript with the ACSL4 exons 13-17 replaced by a cryptic exon from intron 1 of the COL4A5 gene. A truncated 54 kDa protein was predicted from this transcript but Western blot analysis and ACSL4 enzyme assay both showed functional nullisomy of ACSL4. We also compared the clinical features of the family with three previously reported families with the ACSL4 gene deletion and found that ID with absent or severely delayed speech, midface hypoplasia, and facial hypotonia are consistent features observed in the absence of ACSL4 gene.", "type": "abstract" } ]
[ { "id": "6103", "normalized": [ { "db_id": "1287", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 258, 264 ] ], "text": [ "COL4A5" ], "type": "Gene" }, { "id": "6104", "normalized": [ { "db_id": "2182", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 269, 274 ] ], "text": [ "ACSL4" ], "type": "Gene" }, { "id": "6105", "normalized": [ { "db_id": "1287", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 458, 464 ] ], "text": [ "COL4A5" ], "type": "Gene" }, { "id": "6106", "normalized": [ { "db_id": "2182", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 480, 485 ] ], "text": [ "ACSL4" ], "type": "Gene" }, { "id": "6107", "normalized": [ { "db_id": "2182", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 770, 775 ] ], "text": [ "ACSL4" ], "type": "Gene" }, { "id": "6108", "normalized": [ { "db_id": "1287", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 836, 842 ] ], "text": [ "COL4A5" ], "type": "Gene" }, { "id": "6109", "normalized": [ { "db_id": "2182", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 941, 946 ] ], "text": [ "ACSL4" ], "type": "Gene" }, { "id": "6110", "normalized": [ { "db_id": "2182", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 996, 1001 ] ], "text": [ "ACSL4" ], "type": "Gene" }, { "id": "6111", "normalized": [ { "db_id": "2182", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1105, 1110 ] ], "text": [ "ACSL4" ], "type": "Gene" }, { "id": "6112", "normalized": [ { "db_id": "2182", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1275, 1280 ] ], "text": [ "ACSL4" ], "type": "Gene" }, { "id": "6103", "normalized": [ { "db_id": "1287", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 258, 264 ] ], "text": [ "COL4A5" ], "type": "Gene" }, { "id": "6104", "normalized": [ { "db_id": "2182", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 269, 274 ] ], "text": [ "ACSL4" ], "type": "Gene" }, { "id": "6105", "normalized": [ { "db_id": "1287", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 458, 464 ] ], "text": [ "COL4A5" ], "type": "Gene" }, { "id": "6106", "normalized": [ { "db_id": "2182", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 480, 485 ] ], "text": [ "ACSL4" ], "type": "Gene" }, { "id": "6107", "normalized": [ { "db_id": "2182", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 770, 775 ] ], "text": [ "ACSL4" ], "type": "Gene" }, { "id": "6108", "normalized": [ { "db_id": "1287", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 836, 842 ] ], "text": [ "COL4A5" ], "type": "Gene" }, { "id": "6109", "normalized": [ { "db_id": "2182", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 941, 946 ] ], "text": [ "ACSL4" ], "type": "Gene" }, { "id": "6110", "normalized": [ { "db_id": "2182", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 996, 1001 ] ], "text": [ "ACSL4" ], "type": "Gene" }, { "id": "6111", "normalized": [ { "db_id": "2182", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1105, 1110 ] ], "text": [ "ACSL4" ], "type": "Gene" }, { "id": "6112", "normalized": [ { "db_id": "2182", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1275, 1280 ] ], "text": [ "ACSL4" ], "type": "Gene" } ]
[ { "location": { "length": 93, "offset": 0 }, "text": "The human AHR: identification of single nucleotide polymorphisms from six ethnic populations.", "type": "title" }, { "location": { "length": 1624, "offset": 94 }, "text": "BACKGROUND: The effects of 2,3,7,8-tetrachlorodibenzo-p-dioxin and related dioxin-like chemicals are mediated through binding-dependent activation of the cytosolic aryl hydrocarbon receptor (AHR). The human AHR is a low-affinity receptor relative to most rodents, but some reports suggest that there may be individuals with polymorphic high-affinity receptors, thereby possibly increasing the sensitivity to dioxins in such people. METHODS: Although no polymorphisms have been reported in the ligand binding region of the AHR in the over 100 reported sequences, we sequenced 108 additional human AHR genes in an effort to further identify single single nucleotide polymorphisms (SNPs) within the open reading frames of the AHR locus. The DNA was sequenced from six ethnic populations that included Japanese, Chinese, European/Caucasian, African-American, South East Asian, and Hispanic. RESULTS: Six exonic SNPs were identified; four had been described as previously reported and two seem to be novel. Four of the SNPs identified lead to amino acid changes in the AHR protein and two of the SNPs lead to synonymous substitutions. An additional four SNPs have been reported elsewhere that were not identified in the current analysis. With these new sequences, more than 200 human AHR gene sequences have been analyzed for SNPs. CONCLUSION: The results indicate a very limited presence of polymorphisms in the core ligand binding region of the human AHR. Other regions, such as the transactivation domain, seem to be slightly more polymorphic in the human population and the impact on functionality should be further examined.", "type": "abstract" } ]
[ { "id": "6115", "normalized": [ { "db_id": "196", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 10, 13 ] ], "text": [ "AHR" ], "type": "Gene" }, { "id": "6116", "normalized": [ { "db_id": "196", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 258, 283 ] ], "text": [ "aryl hydrocarbon receptor" ], "type": "Gene" }, { "id": "6117", "normalized": [ { "db_id": "196", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 285, 288 ] ], "text": [ "AHR" ], "type": "Gene" }, { "id": "6118", "normalized": [ { "db_id": "196", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 301, 304 ] ], "text": [ "AHR" ], "type": "Gene" }, { "id": "6119", "normalized": [ { "db_id": "196", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 616, 619 ] ], "text": [ "AHR" ], "type": "Gene" }, { "id": "6120", "normalized": [ { "db_id": "196", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 690, 693 ] ], "text": [ "AHR" ], "type": "Gene" }, { "id": "6121", "normalized": [ { "db_id": "196", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 817, 820 ] ], "text": [ "AHR" ], "type": "Gene" }, { "id": "6122", "normalized": [ { "db_id": "196", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1158, 1161 ] ], "text": [ "AHR" ], "type": "Gene" }, { "id": "6123", "normalized": [ { "db_id": "196", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1373, 1376 ] ], "text": [ "AHR" ], "type": "Gene" }, { "id": "6124", "normalized": [ { "db_id": "196", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1542, 1545 ] ], "text": [ "AHR" ], "type": "Gene" }, { "id": "6115", "normalized": [ { "db_id": "196", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 10, 13 ] ], "text": [ "AHR" ], "type": "Gene" }, { "id": "6116", "normalized": [ { "db_id": "196", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 258, 283 ] ], "text": [ "aryl hydrocarbon receptor" ], "type": "Gene" }, { "id": "6117", "normalized": [ { "db_id": "196", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 285, 288 ] ], "text": [ "AHR" ], "type": "Gene" }, { "id": "6118", "normalized": [ { "db_id": "196", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 301, 304 ] ], "text": [ "AHR" ], "type": "Gene" }, { "id": "6119", "normalized": [ { "db_id": "196", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 616, 619 ] ], "text": [ "AHR" ], "type": "Gene" }, { "id": "6120", "normalized": [ { "db_id": "196", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 690, 693 ] ], "text": [ "AHR" ], "type": "Gene" }, { "id": "6121", "normalized": [ { "db_id": "196", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 817, 820 ] ], "text": [ "AHR" ], "type": "Gene" }, { "id": "6122", "normalized": [ { "db_id": "196", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1158, 1161 ] ], "text": [ "AHR" ], "type": "Gene" }, { "id": "6123", "normalized": [ { "db_id": "196", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1373, 1376 ] ], "text": [ "AHR" ], "type": "Gene" }, { "id": "6124", "normalized": [ { "db_id": "196", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1542, 1545 ] ], "text": [ "AHR" ], "type": "Gene" } ]
[ { "location": { "length": 112, "offset": 0 }, "text": "Vitamin E reduces cardiovascular disease in individuals with diabetes mellitus and the haptoglobin 2-2 genotype.", "type": "title" }, { "location": { "length": 1665, "offset": 113 }, "text": "AIMS: Individuals with both diabetes mellitus (DM) and the Haptoglobin (Hp) 2-2 genotype are at increased risk of cardiovascular disease. As the antioxidant function of the Hp 2-2 protein is impaired, we sought to test the pharmacogenomic hypothesis that antioxidant vitamin E supplementation would provide cardiovascular protection to Hp 2-2 DM individuals. MATERIALS & METHODS: We determined the Hp genotype on DM participants from two trials (HOPE and ICARE) and assessed the effect of vitamin E by Hp genotype on their common prespecified outcome, the composite of stroke, myocardial infarction and cardiovascular death. Data was analyzed with a fixed-effect model. These results were input into a simulation model, the Evidence Based Medicine Integrator, in order to estimate their long-term implications in a real-world population from Kaiser Permanente (CA, USA). RESULTS: Meta-analysis of the two trials demonstrated a significant overall reduction in the composite end point in Hp 2-2 DM individuals with vitamin E (odds ratio: 0.58; 95% CI: 0.40-0.86; p = 0.006). There was a statistically significant interaction between the Hp genotype and vitamin E on the composite end point. In these trials, Hp typing of 69 DM individuals and treating those with the Hp 2-2 with vitamin E prevented one myocardial infarct, stroke or cardiovascular death. Lifelong administration of vitamin E to Hp 2-2 DM individuals in the Kaiser population would increase their life expectancy by 3 years. CONCLUSION: A pharmacogenomic strategy of screening DM individuals for the Hp genotype and treating those with Hp 2-2 with vitamin E appears to be highly clinically effective.", "type": "abstract" } ]
[ { "id": "6126", "normalized": [ { "db_id": "3240", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 87, 98 ] ], "text": [ "haptoglobin" ], "type": "Gene" }, { "id": "6127", "normalized": [ { "db_id": "3240", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 172, 183 ] ], "text": [ "Haptoglobin" ], "type": "Gene" }, { "id": "6128", "normalized": [ { "db_id": "3240", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 185, 187 ] ], "text": [ "Hp" ], "type": "Gene" }, { "id": "6129", "normalized": [ { "db_id": "3240", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 286, 288 ] ], "text": [ "Hp" ], "type": "Gene" }, { "id": "6130", "normalized": [ { "db_id": "3240", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 449, 451 ] ], "text": [ "Hp" ], "type": "Gene" }, { "id": "6131", "normalized": [ { "db_id": "3240", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 511, 513 ] ], "text": [ "Hp" ], "type": "Gene" }, { "id": "6132", "normalized": [ { "db_id": "3240", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 615, 617 ] ], "text": [ "Hp" ], "type": "Gene" }, { "id": "6133", "normalized": [ { "db_id": "3240", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1100, 1102 ] ], "text": [ "Hp" ], "type": "Gene" }, { "id": "6134", "normalized": [ { "db_id": "3240", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1249, 1251 ] ], "text": [ "Hp" ], "type": "Gene" }, { "id": "6135", "normalized": [ { "db_id": "3240", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1320, 1322 ] ], "text": [ "Hp" ], "type": "Gene" }, { "id": "6136", "normalized": [ { "db_id": "3240", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1379, 1381 ] ], "text": [ "Hp" ], "type": "Gene" }, { "id": "6137", "normalized": [ { "db_id": "3240", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1507, 1509 ] ], "text": [ "Hp" ], "type": "Gene" }, { "id": "6138", "normalized": [ { "db_id": "3240", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1678, 1680 ] ], "text": [ "Hp" ], "type": "Gene" }, { "id": "6139", "normalized": [ { "db_id": "3240", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1714, 1716 ] ], "text": [ "Hp" ], "type": "Gene" }, { "id": "6126", "normalized": [ { "db_id": "3240", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 87, 98 ] ], "text": [ "haptoglobin" ], "type": "Gene" }, { "id": "6127", "normalized": [ { "db_id": "3240", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 172, 183 ] ], "text": [ "Haptoglobin" ], "type": "Gene" }, { "id": "6128", "normalized": [ { "db_id": "3240", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 185, 187 ] ], "text": [ "Hp" ], "type": "Gene" }, { "id": "6129", "normalized": [ { "db_id": "3240", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 286, 288 ] ], "text": [ "Hp" ], "type": "Gene" }, { "id": "6130", "normalized": [ { "db_id": "3240", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 449, 451 ] ], "text": [ "Hp" ], "type": "Gene" }, { "id": "6131", "normalized": [ { "db_id": "3240", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 511, 513 ] ], "text": [ "Hp" ], "type": "Gene" }, { "id": "6132", "normalized": [ { "db_id": "3240", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 615, 617 ] ], "text": [ "Hp" ], "type": "Gene" }, { "id": "6133", "normalized": [ { "db_id": "3240", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1100, 1102 ] ], "text": [ "Hp" ], "type": "Gene" }, { "id": "6134", "normalized": [ { "db_id": "3240", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1249, 1251 ] ], "text": [ "Hp" ], "type": "Gene" }, { "id": "6135", "normalized": [ { "db_id": "3240", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1320, 1322 ] ], "text": [ "Hp" ], "type": "Gene" }, { "id": "6136", "normalized": [ { "db_id": "3240", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1379, 1381 ] ], "text": [ "Hp" ], "type": "Gene" }, { "id": "6137", "normalized": [ { "db_id": "3240", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1507, 1509 ] ], "text": [ "Hp" ], "type": "Gene" }, { "id": "6138", "normalized": [ { "db_id": "3240", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1678, 1680 ] ], "text": [ "Hp" ], "type": "Gene" }, { "id": "6139", "normalized": [ { "db_id": "3240", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1714, 1716 ] ], "text": [ "Hp" ], "type": "Gene" } ]
[ { "location": { "length": 178, "offset": 0 }, "text": "Effect of the abrogation of TGF-beta1 by antisense oligonucleotides on the expression of TGF-beta-isoforms and their receptors I and II in isolated fibroblasts from keloid scars.", "type": "title" }, { "location": { "length": 2143, "offset": 179 }, "text": "Disequilibrium of dermal wound repair can result in continued accumulation of ECM and excessive scar formation. In susceptible genetically predisposed individuals, keloid formation can be observed. Keloid disease represents a benign dermal fibroproliferative tumor that is unique to humans. TGF-beta is known to play a key role in the pathogenesis of this disease which is still not fully understood. The isoforms TGF-beta1 and TGF-beta2 have profibrotic properties, whereas TGF-beta3 may have antifibrotic functions. TGF-beta exerts its influence by binding to type I and type II TGF-beta receptors, thereby forming a complex and activating specific downstream effector molecules. The aim of this study was to investigate the effect of TGF-beta1 targeting by antisense oligonucleotides on the RNA synthesis and protein expression of TGF-beta isoforms and their receptors in keloid-derived fibroblasts. In tissue samples with normal fibroblasts (NFs) serving as control samples, expression of TGF-beta1 and -beta2 was decreased when compared to keloid fibroblasts (KFs), while expression of TGF-beta3 and of TGF-betaRII was significantly higher in NFs. In the ELISA assay, abrogation of TGF-beta1 led to a significant decrease in TGF-beta1 and -beta2 (p<0.05). Expression of TGF-beta2 mRNA was reduced. Expression of TGF-beta3 mRNA revealed contrary patterns in KFs from different patients while expression of TGF-betaRI was found to be equal during the measurement period. TGF-betaRII mRNA expression was increased after 48 and 72 h respectively. There is growing evidence for a regulatory mechanism between TGF-beta1 and its receptors. Our findings support this theory by suggesting interrelations between the different TGF-beta isoforms and their receptors. Abnormal response of KFs to TGF-betamight reflect a modification in the regulatory pathway that occurs at the receptor level or during intracellular trans-duction. Improving the understanding of TGF-beta in keloid disease could lead to the development of clinically useful therapeutic modalities for treatment of keloid disease or even allow identification of preventive strategies.", "type": "abstract" } ]
[ { "id": "6141", "normalized": [ { "db_id": "4052", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 28, 37 ] ], "text": [ "TGF-beta1" ], "type": "Gene" }, { "id": "6142", "normalized": [ { "db_id": "7046", "db_name": "NCBIGene", "tax_id": null }, { "db_id": "7048", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 89, 135 ] ], "text": [ "TGF-beta-isoforms and their receptors I and II" ], "type": "Gene" }, { "id": "6144", "normalized": [ { "db_id": "4052", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 593, 602 ] ], "text": [ "TGF-beta1" ], "type": "Gene" }, { "id": "6145", "normalized": [ { "db_id": "7042", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 607, 616 ] ], "text": [ "TGF-beta2" ], "type": "Gene" }, { "id": "6146", "normalized": [ { "db_id": "7043", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 654, 663 ] ], "text": [ "TGF-beta3" ], "type": "Gene" }, { "id": "6148", "normalized": [ { "db_id": "7046", "db_name": "NCBIGene", "tax_id": null }, { "db_id": "7048", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 741, 778 ] ], "text": [ "type I and type II TGF-beta receptors" ], "type": "Gene" }, { "id": "6149", "normalized": [ { "db_id": "4052", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 916, 925 ] ], "text": [ "TGF-beta1" ], "type": "Gene" }, { "id": "6151", "normalized": [ { "db_id": "4052", "db_name": "NCBIGene", "tax_id": null }, { "db_id": "7042", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1172, 1192 ] ], "text": [ "TGF-beta1 and -beta2" ], "type": "Gene" }, { "id": "6152", "normalized": [ { "db_id": "7043", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1270, 1279 ] ], "text": [ "TGF-beta3" ], "type": "Gene" }, { "id": "6153", "normalized": [ { "db_id": "7048", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1287, 1298 ] ], "text": [ "TGF-betaRII" ], "type": "Gene" }, { "id": "6154", "normalized": [ { "db_id": "4052", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1366, 1375 ] ], "text": [ "TGF-beta1" ], "type": "Gene" }, { "id": "6155", "normalized": [ { "db_id": "4052", "db_name": "NCBIGene", "tax_id": null }, { "db_id": "7042", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1409, 1429 ] ], "text": [ "TGF-beta1 and -beta2" ], "type": "Gene" }, { "id": "6156", "normalized": [ { "db_id": "7042", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1454, 1463 ] ], "text": [ "TGF-beta2" ], "type": "Gene" }, { "id": "6157", "normalized": [ { "db_id": "7043", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1496, 1505 ] ], "text": [ "TGF-beta3" ], "type": "Gene" }, { "id": "6158", "normalized": [ { "db_id": "7046", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1589, 1599 ] ], "text": [ "TGF-betaRI" ], "type": "Gene" }, { "id": "6159", "normalized": [ { "db_id": "7048", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1653, 1664 ] ], "text": [ "TGF-betaRII" ], "type": "Gene" }, { "id": "6160", "normalized": [ { "db_id": "4052", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1788, 1797 ] ], "text": [ "TGF-beta1" ], "type": "Gene" }, { "id": "6141", "normalized": [ { "db_id": "4052", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 28, 37 ] ], "text": [ "TGF-beta1" ], "type": "Gene" }, { "id": "6142", "normalized": [ { "db_id": "7046", "db_name": "NCBIGene", "tax_id": null }, { "db_id": "7048", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 89, 135 ] ], "text": [ "TGF-beta-isoforms and their receptors I and II" ], "type": "Gene" }, { "id": "6144", "normalized": [ { "db_id": "4052", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 593, 602 ] ], "text": [ "TGF-beta1" ], "type": "Gene" }, { "id": "6145", "normalized": [ { "db_id": "7042", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 607, 616 ] ], "text": [ "TGF-beta2" ], "type": "Gene" }, { "id": "6146", "normalized": [ { "db_id": "7043", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 654, 663 ] ], "text": [ "TGF-beta3" ], "type": "Gene" }, { "id": "6148", "normalized": [ { "db_id": "7046", "db_name": "NCBIGene", "tax_id": null }, { "db_id": "7048", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 741, 778 ] ], "text": [ "type I and type II TGF-beta receptors" ], "type": "Gene" }, { "id": "6149", "normalized": [ { "db_id": "4052", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 916, 925 ] ], "text": [ "TGF-beta1" ], "type": "Gene" }, { "id": "6151", "normalized": [ { "db_id": "4052", "db_name": "NCBIGene", "tax_id": null }, { "db_id": "7042", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1172, 1192 ] ], "text": [ "TGF-beta1 and -beta2" ], "type": "Gene" }, { "id": "6152", "normalized": [ { "db_id": "7043", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1270, 1279 ] ], "text": [ "TGF-beta3" ], "type": "Gene" }, { "id": "6153", "normalized": [ { "db_id": "7048", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1287, 1298 ] ], "text": [ "TGF-betaRII" ], "type": "Gene" }, { "id": "6154", "normalized": [ { "db_id": "4052", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1366, 1375 ] ], "text": [ "TGF-beta1" ], "type": "Gene" }, { "id": "6155", "normalized": [ { "db_id": "4052", "db_name": "NCBIGene", "tax_id": null }, { "db_id": "7042", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1409, 1429 ] ], "text": [ "TGF-beta1 and -beta2" ], "type": "Gene" }, { "id": "6156", "normalized": [ { "db_id": "7042", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1454, 1463 ] ], "text": [ "TGF-beta2" ], "type": "Gene" }, { "id": "6157", "normalized": [ { "db_id": "7043", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1496, 1505 ] ], "text": [ "TGF-beta3" ], "type": "Gene" }, { "id": "6158", "normalized": [ { "db_id": "7046", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1589, 1599 ] ], "text": [ "TGF-betaRI" ], "type": "Gene" }, { "id": "6159", "normalized": [ { "db_id": "7048", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1653, 1664 ] ], "text": [ "TGF-betaRII" ], "type": "Gene" }, { "id": "6160", "normalized": [ { "db_id": "4052", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1788, 1797 ] ], "text": [ "TGF-beta1" ], "type": "Gene" } ]
[ { "location": { "length": 75, "offset": 0 }, "text": "NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.", "type": "title" }, { "location": { "length": 1444, "offset": 76 }, "text": "In 5-10% of patients, neurofibromatosis type 1 (NF1) results from microdeletions that encompass the entire NF1 gene and a variable number of flanking genes. Two recurrent microdeletion types are found in most cases, with microdeletion breakpoints located in paralogous regions flanking NF1 (proximal NF1-REP-a and distal NF1-REP-c for the 1.4 Mb type-1 microdeletion, and SUZ12 and SUZ12P for the 1.2 Mb type-2 microdeletion). A more severe phenotype is usually associated with NF1 microdeletion patients than in those with intragenic mutations. We characterized NF1 microdeletions in 70 unrelated NF1 microdeleted patients using a high-resolution NF1 custom array comparative genomic hybridization (CGH). Genotype-phenotype correlations were studied in 58 of these microdeletion patients and compared to 389 patients with intragenic truncating NF1 mutations and phenotyped in the same standardized way. Our results confirmed in an unbiased manner the existence of a contiguous gene syndrome with a significantly higher incidence of learning disabilities and facial dysmorphism in microdeleted patients compared to patients with intragenic NF1 mutations. Microdeleted NF1 patients also showed a trend toward significance for childhood overgrowth. High-resolution array-CGH identified a new recurrent approximately 1.0 Mb microdeletion type, designated as type-3, with breakpoints in the paralogous regions middle NF1-REP-b and distal NF1-REP-c.", "type": "abstract" } ]
[ { "id": "6165", "normalized": [ { "db_id": "4763", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 0, 3 ] ], "text": [ "NF1" ], "type": "Gene" }, { "id": "6166", "normalized": [ { "db_id": "4763", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 22, 46 ] ], "text": [ "neurofibromatosis type 1" ], "type": "Gene" }, { "id": "6167", "normalized": [ { "db_id": "4763", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 98, 122 ] ], "text": [ "neurofibromatosis type 1" ], "type": "Gene" }, { "id": "6168", "normalized": [ { "db_id": "4763", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 124, 127 ] ], "text": [ "NF1" ], "type": "Gene" }, { "id": "6169", "normalized": [ { "db_id": "4763", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 183, 186 ] ], "text": [ "NF1" ], "type": "Gene" }, { "id": "6170", "normalized": [ { "db_id": "4763", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 362, 365 ] ], "text": [ "NF1" ], "type": "Gene" }, { "id": "6171", "normalized": [ { "db_id": "4763", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 376, 379 ] ], "text": [ "NF1" ], "type": "Gene" }, { "id": "6172", "normalized": [ { "db_id": "4763", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 397, 400 ] ], "text": [ "NF1" ], "type": "Gene" }, { "id": "6173", "normalized": [ { "db_id": "23512", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 448, 453 ] ], "text": [ "SUZ12" ], "type": "Gene" }, { "id": "6174", "normalized": [ { "db_id": "440423", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 458, 464 ] ], "text": [ "SUZ12P" ], "type": "Gene" }, { "id": "6175", "normalized": [ { "db_id": "4763", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 554, 557 ] ], "text": [ "NF1" ], "type": "Gene" }, { "id": "6176", "normalized": [ { "db_id": "4763", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 639, 642 ] ], "text": [ "NF1" ], "type": "Gene" }, { "id": "6177", "normalized": [ { 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"NCBIGene", "tax_id": null } ], "offsets": [ [ 1510, 1513 ] ], "text": [ "NF1" ], "type": "Gene" }, { "id": "6165", "normalized": [ { "db_id": "4763", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 0, 3 ] ], "text": [ "NF1" ], "type": "Gene" }, { "id": "6166", "normalized": [ { "db_id": "4763", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 22, 46 ] ], "text": [ "neurofibromatosis type 1" ], "type": "Gene" }, { "id": "6167", "normalized": [ { "db_id": "4763", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 98, 122 ] ], "text": [ "neurofibromatosis type 1" ], "type": "Gene" }, { "id": "6168", "normalized": [ { "db_id": "4763", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 124, 127 ] ], "text": [ "NF1" ], "type": "Gene" }, { "id": "6169", "normalized": [ { "db_id": "4763", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 183, 186 ] ], "text": [ "NF1" ], "type": "Gene" }, { "id": "6170", "normalized": [ { "db_id": "4763", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 362, 365 ] ], "text": [ "NF1" ], "type": "Gene" }, { "id": "6171", "normalized": [ { "db_id": "4763", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 376, 379 ] ], "text": [ "NF1" ], "type": "Gene" }, { "id": "6172", "normalized": [ { "db_id": "4763", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 397, 400 ] ], "text": [ "NF1" ], "type": "Gene" }, { "id": "6173", "normalized": [ { "db_id": "23512", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 448, 453 ] ], "text": [ "SUZ12" ], "type": "Gene" }, { "id": "6174", "normalized": [ { "db_id": "440423", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 458, 464 ] ], "text": [ "SUZ12P" ], "type": "Gene" }, { "id": "6175", "normalized": [ { "db_id": "4763", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 554, 557 ] ], "text": [ "NF1" ], "type": "Gene" }, { "id": "6176", "normalized": [ { "db_id": "4763", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 639, 642 ] ], "text": [ "NF1" ], "type": "Gene" }, { "id": "6177", "normalized": [ { "db_id": "4763", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 674, 677 ] ], "text": [ "NF1" ], "type": "Gene" }, { "id": "6178", "normalized": [ { "db_id": "4763", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 724, 727 ] ], "text": [ "NF1" ], "type": "Gene" }, { "id": "6179", "normalized": [ { "db_id": "4763", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 921, 924 ] ], "text": [ "NF1" ], "type": "Gene" }, { "id": "6180", "normalized": [ { "db_id": "4763", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1216, 1219 ] ], "text": [ "NF1" ], "type": "Gene" }, { "id": "6181", "normalized": [ { "db_id": "4763", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1244, 1247 ] ], "text": [ "NF1" ], "type": "Gene" }, { "id": "6182", "normalized": [ { "db_id": "4763", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1489, 1492 ] ], "text": [ "NF1" ], "type": "Gene" }, { "id": "6183", "normalized": [ { "db_id": "4763", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1510, 1513 ] ], "text": [ "NF1" ], "type": "Gene" } ]
[ { "location": { "length": 91, "offset": 0 }, "text": "Sex-differential genetic effect of phosphodiesterase 4D (PDE4D) on carotid atherosclerosis.", "type": "title" }, { "location": { "length": 2178, "offset": 92 }, "text": "BACKGROUND: The phosphodiesterase 4D (PDE4D) gene was reported as a susceptibility gene to stroke. The genetic effect might be attributed to its role in modulating the atherogenic process in the carotid arteries. Using carotid intima-media thickness (IMT) and plaque index as phenotypes, the present study sought to determine the influence of this gene on subclinical atherosclerosis. METHODS: Carotid ultrasonography was performed on 1013 stroke-free subjects who participated in the health screening programs (age 52.6 +/- 12.2; 47.6% men). Genotype distribution was compared among the high-risk (plaque index > or = 4), low-risk (index = 1-3), and reference (index = 0) groups. We analyzed continuous IMT data and further dichotomized IMT data using mean plus one standard deviation as the cutoff level. Because the plaque prevalence and IMT values displayed a notable difference between men and women, we carried out sex-specific analyses in addition to analyzing the overall data. Rs702553 at the PDE4D gene was selected because it conferred a risk for young stroke in our previous report. Previous young stroke data (190 cases and 211 controls) with an additional 532 control subjects without ultrasonic data were shown as a cross-validation for the genetic effect. RESULTS: In the overall analyses, the rare homozygote of rs702553 led to an OR of 3.1 (p = 0.034) for a plaque index > or = 4. When subjects were stratified by sex, the genetic effect was only evident in men but not in women. Comparing male subjects with plaque index > or = 4 and those with plaque index = 0, the TT genotype was over-represented (27.6% vs. 13.4%, p = 0.008). For dichotomized IMT data in men, the TT genotype had an OR of 2.1 (p = 0.032) for a thicker IMT at the common carotid artery compared with the (AA + AT) genotypes. In women, neither IMT nor plaque index was associated with rs702553. Similarly, SNP rs702553 was only significant in young stroke men (OR = 1.8, p = 0.025) but not in women (p = 0.27). CONCLUSIONS: The present study demonstrates a sex-differential effect of PDE4D on IMT, plaque index and stroke, which highlights its influence on various aspects of atherogenesis.", "type": "abstract" } ]
[ { "id": "6185", "normalized": [ { "db_id": "5144", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 35, 55 ] ], "text": [ "phosphodiesterase 4D" ], "type": "Gene" }, { "id": "6186", "normalized": [ { "db_id": "5144", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 57, 62 ] ], "text": [ "PDE4D" ], "type": "Gene" }, { "id": "6187", "normalized": [ { "db_id": "5144", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 108, 128 ] ], "text": [ "phosphodiesterase 4D" ], "type": "Gene" }, { "id": "6188", "normalized": [ { "db_id": "5144", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 130, 135 ] ], "text": [ "PDE4D" ], "type": "Gene" }, { "id": "6189", "normalized": [ { "db_id": "5144", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1094, 1099 ] ], "text": [ "PDE4D" ], "type": "Gene" }, { "id": "6190", "normalized": [ { "db_id": "5144", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 2164, 2169 ] ], "text": [ "PDE4D" ], "type": "Gene" }, { "id": "6185", "normalized": [ { "db_id": "5144", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 35, 55 ] ], "text": [ "phosphodiesterase 4D" ], "type": "Gene" }, { "id": "6186", "normalized": [ { "db_id": "5144", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 57, 62 ] ], "text": [ "PDE4D" ], "type": "Gene" }, { "id": "6187", "normalized": [ { "db_id": "5144", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 108, 128 ] ], "text": [ "phosphodiesterase 4D" ], "type": "Gene" }, { "id": "6188", "normalized": [ { "db_id": "5144", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 130, 135 ] ], "text": [ "PDE4D" ], "type": "Gene" }, { "id": "6189", "normalized": [ { "db_id": "5144", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1094, 1099 ] ], "text": [ "PDE4D" ], "type": "Gene" }, { "id": "6190", "normalized": [ { "db_id": "5144", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 2164, 2169 ] ], "text": [ "PDE4D" ], "type": "Gene" } ]
[ { "location": { "length": 120, "offset": 0 }, "text": "Identification of lipid droplet-associated proteins in the formation of macrophage-derived foam cells using microarrays.", "type": "title" }, { "location": { "length": 1469, "offset": 121 }, "text": "A large number of macrophage-derived foam cells stores excessive neutral lipids in intracellular droplets, and plays a major role during the development of atherosclerosis. The formation and catabolism of intracellular lipid droplets (LDs) are regulated by LD-associated proteins, a group of proteins which are located on the surface of LDs and regulate the formation, morphology and lipolysis of LDs. In order to illustrate the function of LD-associated proteins during the process of atherosclerosis, the foam cell model is induced by oxidized low-density lipoprotein (ox-LDL) in macrophages originated from the THP-1 cell line, and cDNA microarrays are used to monitor the gene expression profiles of LD-associated proteins. Gene expression data show that 2% of changed genes are lipid binding genes during the transformation of foam cells. The major candidate genes, the cell death-inducing DFF45-like effector (CIDE) family and Perilipin, Adipophilin, and TIP47 (PAT) family, have different alterations during the formation of foam cells. CIDEB, CIDEC, Adipophilin, S3-12 and LSDP5 were up-regulated, while TIP47 was down-regulated. There was no significant change in CIDEA and Perilipin. These results were confirmed by real-time PCR and immunoblotting. This study presents a comprehensive analysis of the gene expression of LD-associated proteins during the differentiation of human foam cells, which may play an important role in the process of atherosclerosis.", "type": "abstract" } ]
[ { "id": "6199", "normalized": [ { "db_id": "5346", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1054, 1063 ] ], "text": [ "Perilipin" ], "type": "Gene" }, { "id": "6200", "normalized": [ { "db_id": "123", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1065, 1076 ] ], "text": [ "Adipophilin" ], "type": "Gene" }, { "id": "6201", "normalized": [ { "db_id": "10226", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1082, 1087 ] ], "text": [ "TIP47" ], "type": "Gene" }, { "id": "6202", "normalized": [ { "db_id": "10226", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1089, 1092 ] ], "text": [ "PAT" ], "type": "Gene" }, { "id": "6203", "normalized": [ { "db_id": "27141", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1165, 1170 ] ], "text": [ "CIDEB" ], "type": "Gene" }, { "id": "6204", "normalized": [ { "db_id": "63924", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1172, 1177 ] ], "text": [ "CIDEC" ], "type": "Gene" }, { "id": "6205", "normalized": [ { "db_id": "123", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1179, 1190 ] ], "text": [ "Adipophilin" ], "type": "Gene" }, { "id": "6206", "normalized": [ { "db_id": "729359", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1192, 1197 ] ], "text": [ "S3-12" ], "type": "Gene" }, { "id": "6207", "normalized": [ { "db_id": "440503", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1202, 1207 ] ], "text": [ "LSDP5" ], "type": "Gene" }, { "id": "6208", "normalized": [ { "db_id": "10226", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1233, 1238 ] ], "text": [ "TIP47" ], "type": "Gene" }, { "id": "6209", "normalized": [ { "db_id": "1149", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1294, 1299 ] ], "text": [ "CIDEA" ], "type": "Gene" }, { "id": "6210", "normalized": [ { "db_id": "5346", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1304, 1313 ] ], "text": [ "Perilipin" ], "type": "Gene" }, { "id": "6199", "normalized": [ { "db_id": "5346", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1054, 1063 ] ], "text": [ "Perilipin" ], "type": "Gene" }, { "id": "6200", "normalized": [ { "db_id": "123", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1065, 1076 ] ], "text": [ "Adipophilin" ], "type": "Gene" }, { "id": "6201", "normalized": [ { "db_id": "10226", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1082, 1087 ] ], "text": [ "TIP47" ], "type": "Gene" }, { "id": "6202", "normalized": [ { "db_id": "10226", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1089, 1092 ] ], "text": [ "PAT" ], "type": "Gene" }, { "id": "6203", "normalized": [ { "db_id": "27141", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1165, 1170 ] ], "text": [ "CIDEB" ], "type": "Gene" }, { "id": "6204", "normalized": [ { "db_id": "63924", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1172, 1177 ] ], "text": [ "CIDEC" ], "type": "Gene" }, { "id": "6205", "normalized": [ { "db_id": "123", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1179, 1190 ] ], "text": [ "Adipophilin" ], "type": "Gene" }, { "id": "6206", "normalized": [ { "db_id": "729359", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1192, 1197 ] ], "text": [ "S3-12" ], "type": "Gene" }, { "id": "6207", "normalized": [ { "db_id": "440503", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1202, 1207 ] ], "text": [ "LSDP5" ], "type": "Gene" }, { "id": "6208", "normalized": [ { "db_id": "10226", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1233, 1238 ] ], "text": [ "TIP47" ], "type": "Gene" }, { "id": "6209", "normalized": [ { "db_id": "1149", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1294, 1299 ] ], "text": [ "CIDEA" ], "type": "Gene" }, { "id": "6210", "normalized": [ { "db_id": "5346", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1304, 1313 ] ], "text": [ "Perilipin" ], "type": "Gene" } ]
[ { "location": { "length": 119, "offset": 0 }, "text": "Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia.", "type": "title" }, { "location": { "length": 1234, "offset": 120 }, "text": "BACKGROUND: Mutations in the LDLR gene are the most frequent cause of Familial hypercholesterolemia, an autosomal dominant disease characterised by elevated concentrations of LDL in blood plasma. In many populations, large genomic rearrangements account for approximately 10% of mutations in the LDLR gene. METHODS: DNA diagnostics of large genomic rearrangements was based on Multiple Ligation dependent Probe Amplification (MLPA). Subsequent analyses of deletion and duplication breakpoints were performed using long-range PCR, PCR, and DNA sequencing. RESULTS: In set of 1441 unrelated FH patients, large genomic rearrangements were found in 37 probands. Eight different types of rearrangements were detected, from them 6 types were novel, not described so far. In all rearrangements, we characterized their exact extent and breakpoint sequences. CONCLUSIONS: Sequence analysis of deletion and duplication breakpoints indicates that intrachromatid non-allelic homologous recombination (NAHR) between Alu elements is involved in 6 events, while a non-homologous end joining (NHEJ) is implicated in 2 rearrangements. Our study thus describes for the first time NHEJ as a mechanism involved in genomic rearrangements in the LDLR gene.", "type": "abstract" } ]
[ { "id": "6213", "normalized": [ { "db_id": "3949", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 56, 60 ] ], "text": [ "LDLR" ], "type": "Gene" }, { "id": "6214", "normalized": [ { "db_id": "3949", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 149, 153 ] ], "text": [ "LDLR" ], "type": "Gene" }, { "id": "6215", "normalized": [ { "db_id": "3949", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 416, 420 ] ], "text": [ "LDLR" ], "type": "Gene" }, { "id": "6216", "normalized": [ { "db_id": "3949", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1344, 1348 ] ], "text": [ "LDLR" ], "type": "Gene" }, { "id": "6213", "normalized": [ { "db_id": "3949", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 56, 60 ] ], "text": [ "LDLR" ], "type": "Gene" }, { "id": "6214", "normalized": [ { "db_id": "3949", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 149, 153 ] ], "text": [ "LDLR" ], "type": "Gene" }, { "id": "6215", "normalized": [ { "db_id": "3949", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 416, 420 ] ], "text": [ "LDLR" ], "type": "Gene" }, { "id": "6216", "normalized": [ { "db_id": "3949", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 1344, 1348 ] ], "text": [ "LDLR" ], "type": "Gene" } ]
[ { "location": { "length": 117, "offset": 0 }, "text": "Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease.", "type": "title" }, { "location": { "length": 1064, "offset": 118 }, "text": "Generalized peeling skin disease is an autosomal-recessive ichthyosiform erythroderma characterized by lifelong patchy peeling of the skin. After genome-wide linkage analysis, we have identified a homozygous nonsense mutation in CDSN in a large consanguineous family with generalized peeling skin, pruritus, and food allergies, which leads to a complete loss of corneodesmosin. In contrast to hypotrichosis simplex, which can be associated with specific dominant CDSN mutations, peeling skin disease is characterized by a complete loss of CDSN expression. The skin phenotype is consistent with a recent murine Cdsn knockout model. Using three-dimensional human skin models, we demonstrate that lack of corneodesmosin causes an epidermal barrier defect supposed to account for the predisposition to atopic diseases, and we confirm the role of corneodesmosin as a decisive epidermal adhesion molecule. Therefore, peeling skin disease will represent a new model disorder for atopic diseases, similarly to Netherton syndrome and ichthyosis vulgaris in the recent past.", "type": "abstract" } ]
[ { "id": "6218", "normalized": [ { "db_id": "1041", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 8, 22 ] ], "text": [ "corneodesmosin" ], "type": "Gene" }, { "id": "6219", "normalized": [ { "db_id": "1041", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 347, 351 ] ], "text": [ "CDSN" ], "type": "Gene" }, { "id": "6220", "normalized": [ { "db_id": "1041", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 480, 494 ] ], "text": [ "corneodesmosin" ], "type": "Gene" }, { "id": "6221", "normalized": [ { "db_id": "1041", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 581, 585 ] ], "text": [ "CDSN" ], "type": "Gene" }, { "id": "6222", "normalized": [ { "db_id": "1041", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 657, 661 ] ], "text": [ "CDSN" ], "type": "Gene" }, { "id": "6224", "normalized": [ { "db_id": "1041", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 820, 834 ] ], "text": [ "corneodesmosin" ], "type": "Gene" }, { "id": "6225", "normalized": [ { "db_id": "1041", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 960, 974 ] ], "text": [ "corneodesmosin" ], "type": "Gene" }, { "id": "6218", "normalized": [ { "db_id": "1041", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 8, 22 ] ], "text": [ "corneodesmosin" ], "type": "Gene" }, { "id": "6219", "normalized": [ { "db_id": "1041", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 347, 351 ] ], "text": [ "CDSN" ], "type": "Gene" }, { "id": "6220", "normalized": [ { "db_id": "1041", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 480, 494 ] ], "text": [ "corneodesmosin" ], "type": "Gene" }, { "id": "6221", "normalized": [ { "db_id": "1041", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 581, 585 ] ], "text": [ "CDSN" ], "type": "Gene" }, { "id": "6222", "normalized": [ { "db_id": "1041", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 657, 661 ] ], "text": [ "CDSN" ], "type": "Gene" }, { "id": "6224", "normalized": [ { "db_id": "1041", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 820, 834 ] ], "text": [ "corneodesmosin" ], "type": "Gene" }, { "id": "6225", "normalized": [ { "db_id": "1041", "db_name": "NCBIGene", "tax_id": null } ], "offsets": [ [ 960, 974 ] ], "text": [ "corneodesmosin" ], "type": "Gene" } ]