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Enelpol 10

What is Dysphoric Milk Ejection Reflex?

Dysphoric milk ejection reflex (D-MER) is characterized by an abrupt dysphoria, or undesirable feeling that occurs with the MER and continues for no more than a few minutes. After milk ejection, the dysphoria vanishes. Symptoms may decrease by 3 months or they may continue throughout the breastfeeding period.

What is formative pluripotency?

Formative pluripotency features a gene regulatory network switch from the nave state. Two phases of pluripotency, called nave and primed, have previously been described.

Viliuisk encephalomyelitis is diagnosed in which geographical area?

Viliuisk encephalomyelitis (VE) is an endemic neurological disease in Northeast Siberia and generally considered to be a chronic encephalomyelitis of unknown origin actually spreading in the Sakha (Yakutian) Republic.

Which peripheral neuropathy has been associated with NDRG1 mutations?

Charcot-Marie-Tooth (CMT) 4D disease is a severe autosomal recessive demyelinating neuropathy with extensive axonal loss leading to early disability, caused by mutations in the N-myc downstream regulated gene 1 (NDRG1).

Which syndrome is NHE6 associated with?

Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with Christianson syndrome, a syndromic form of X-linked intellectual disability characterized by microcephaly, severe global developmental delay, autistic behavior, early onset seizures and ataxia.

List the off-label use of SSRIs

depression during childhood and adolescence Premature ejaculation (PE) erectile dysfunction Insomnia postprostatectomy established stress urinary incontinence. mood and anxiety disorders during pregnancy and breast feeding symptoms of vasomotor dysregulation (hot flashes) associated with the menopausal transition and sex hormone deprivation ..off-label uses include the treatment of bulimia, benzodiazepine/alcohol dependence, fibromyalgia, central nervous system degenerative diseases (behavioral disorders in dementia and other organic disorders), schizophrenia, chronic pain disease and diabetic neuropathy, sexual dysfunction.

What is Eteplirsen (Exondys 51)?

Eteplirsen (Exondys 51) is an antisense oligonucleotide designed to induce exon 51 skipping that is developed by Sarepta Therapeutics. Intravenous eteplirsen has received accelerated approval from the US FDA for the treatment of Duchenne muscular dystrophy (DMD) in patients with a confirmed mutation of the DMD gene amenable to exon 51 skipping. By the method of exon skipping in dystrophin pre-mRNA the reading frame is restored and the internally deleted but functional dystrophin is produced.

Are synonymous sites in primates and rodents functionally constrained?

No. Synonymous sites in primates exhibited evidence for higher selective constraint that those in rodents. In primates up to 24% of synonymous sites could be under purifying selection, while in rodents synonymous sites evolved neutrally.

Is mesothelioma caused by asbestos exposure?

Yes, mesothelioma is caused by asbestos exposure.

Which disease is treated with semaglutide?

Semaglutide is glucagon-like peptide-1 receptor agonist that is being used for the treatment of type 2 diabetes mellitus.

What is the role of venous angioplasty in multiple sclerosis?

Chronic cerebrospinal venous insufficiency (CCSVI) may be an important factor in the pathogenesis of multiple sclerosis (MS). The proposed treatment for CCSVI is percutaneous transluminal angioplasty, also known as the 'liberation procedure', which is claimed to improve the blood flow in the brain, thereby alleviating some of the symptoms of MS. There have been reports to suggest that venous angioplasty in MS patients is a feasible and safe procedure and is associated with improved disease symptom severity, quality of life, and corrects blood pressure deviation, improves CSF dynamics. Open venous reconstruction of the internal jugular vein has also been tried with good results. However, some authors have failed to document beneficial value of venous angioplasty in MS patients and systematic review has suggested that there is currently no high level evidence to support or refute the efficacy or safety of percutaneous transluminal angioplasty for treatment of CCSVI in people with MS.

Why mothers with a CYP2D6 ultrarapid metabolizer phenotype may expose their infants to risk of adverse events when taking codeine while breastfeeding?

Mothers with a CYP2D6 ultrarapid metabolizer phenotype may expose their infants to risk of adverse events when taking codeine while breastfeeding, by producing more of the active metabolite, morphine.

Which are the different proteins/isoforms encoded but the ASPH (aspartate beta-hydroxylase) gene in humans?

Alternative splicing of the locus AbetaH-J-J (asparetyl-beta-hydroxylase) generates three functionally distinct proteins: an enzyme, AbetaH (aspartyl-beta-hydroxylase), a structural protein of the sarcoplasmic reticulum membrane (junctin), and an integral membrane calcium binding protein (junctate). Aspartyl (asparaginyl)-beta-hydroxylase (AAH), has also two related transcripts, Humbug and Junctin, which lack catalytic domains. The smallest BAH-related transcript (2,789 base pairs) uses an alternative 3' terminal exon, resulting in a protein lacking a catalytic domain. Evolutionary conservation of this noncatalytic isoform of BAH (humbug) is demonstrated in mouse, man, and Drosophila. A human junctin isoform (isoform 1, 225 aa) was also identified and characterized. The isoform 1 has a 15 aa insertion at the amino acid residue 55 of the human junctin.

Is there a role for gamma knife in treatment of Obsessive-Compulsive Disorder?

Yes. Gamma knife radiosurgery is being increasingly to treat refractory obsessive- compulsive disorder (OCD). It is reserved for severe, treatment-refractory disease that has not responded to multiple treatments.

What the chromsomal location of the gene that is deleted in Potocki-Shaffer syndrome?

In Potocki-Shaffer syndrome (PSS), the full phenotypic spectrum is manifested when deletions are at least 2.1 Mb in size at 11p11.2

What are PD-1 inhibitors?

The programmed death-1 (PD-1) pathway negatively regulates T-cell activation and has an important role in regulating antitumor host immunity. Monoclonal antibodies directed against PD-1 or the PD-1 ligand (PD-L1) are used to treat cancer.

To the ligand of which receptors does Denosumab (Prolia) bind?

Denosumab is a monoclonal antibody against the RANKL

Which disorder is rated by Palmini classification?

Palmini classification system is used for classification of focal cortical dysplasia.

What is caused by SCUBE3 loss of function?

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.

What are the mobile applications fields of use for patients ?

Weight-loss mobile applications pediatric obesity prevention and treatment, healthy eating, and physical activity promotion A total of 229 dermatology-related apps were identified in the following categories: general dermatology reference (61 [26.6%]), self-surveillance/diagnosis (41 [17.9%]), disease guide (39 [17.0%]), educational aid (20 [8.7%]), sunscreen/UV recommendation (19 [8.3%]), calculator (12 [5.2%]), teledermatology (8 [3.5%]), conference (6 [2.6%]), journal (6 [2.6%]), photograph storage/sharing (5 [2.2%]), dermoscopy (2 [0.9%]), pathology (2 [0.9%]), and other (8 [3.5%]). The most reviewed apps included Ultraviolet ~ UV Index (355 reviews), VisualDx (306), SPF (128), iSore (61), and SpotMole (50) mobile health and fitness app alcohol-use behavior change or recovery More than 17,000 mHealth apps now are available for smart phones and other devices, and they do everything from monitoring urine flow for patients with enlarged prostates to reminding people prone to kidney stones to drink more water.

What is the main symptom of Marfan syndrome patients?

The diagnosis and surgical treatment of patients with Marfan syndrome remain controversial. Pathohistological alterations of the aorta in patients with Marfan syndrome consisted in pronounced restructuring of the wall with deep irreversible alternative changes. The risk of aortic dissection, which is the most serious manifestation of the Marfan syndrome, increases as the aorta enlarges. Surgical replacement of the aortic root with a composite graft does not end the disease process.

How are deletion breakpoints defined?

Molecular mapping of deletion breakpoints on chromosome 4 of Drosophila melanogaster. We identified 18 deletion breakpoints at the DNA nucleotide sequence level. Commonly used methods for the detection of CNV breakpoints include long-range PCR and primer walking, their success being limited by the deletion size, GC content and presence of DNA repeats.

What is the treatment of triiodothyronine toxicosis?

Treatment of T3 toxicosis is a complex medical problem because not well responsive to the various options. Usual treatment includes antithyroid drugs such as propyltiouracil, radioactive iodine or beta blockers like propanol; surgery may be also necessary in some cases.

What is the white mutation in Drosophila affecting?

Βeyond the classical eye-color phenotype, mutations in Drosophila white gene could impair several biological functions affecting parameters like mobility, life span and stress tolerance.

What is the role of Gata3 in Th2 cells?

RHS6 coordinately regulates the Th2 cytokine genes by recruiting GATA3, SATB1, and IRF4. RHS6 recruited transcription factors GATA3, SATB1, and IRF4, which play important roles in expression of all three Th2 cytokine genes IL-4-mediated STAT6 activation induces high levels of transcription of GATA3, a master regulator of Th2 cell differentiation, and enforced expression of GATA3 induces Th2 cytokine expression.

Is pseudouridine a RNA modification?

Yes, pseudouridine (Ψ) is the most abundant of>150 nucleoside modifications in RNA.

What is the mechanism of action of solanezumab?

Solanezumab is a monoclonal anti-amyloid beta peptide (Aβ) antibody. It has been tested for treatment of Alzheimer's disease patients.

What is the mode of action of bedaquiline?

Bedaquiline works by inhibiting bacterial adenosine triphosphate (ATP) synthase and represents the first novel class of antituberculosis agents that is used for treatment of multi drug resistant tuberculosis.

What are the in vivo effects of AZD8601?

AZD8601 administration in vivo results in pronounced, sustained and dose-dependent vasodilation, blood flow upregulation, and neovessel formation, in striking contrast to those induced by recombinant human VEGF-A protein, a non-translatable variant of AZD8601, and citrate/saline vehicle. Moreover, sequential dosing of AZD8601 improves vascularization and tissue oxygenation of the wound bed, leading to accelerated re-epithelialization during the early phase of diabetic wound healing.

Is disruption of immune regulation mechanisms associated with adverse pregnancy outcomes, including preeclampsia (PE)?

Inflammation and oxidative stress at the maternal-fetal interface characterize the placental dysfunction that underlies the pregnancy disorder preeclampsia.

What is the function of the NIPBL factor in genome conformation?

The NIPBL protein stimulates cohesin's ABC-like ATPase and is essential for loading cohesin onto chromosomes.. NIPBL recruits histone deacetylases to mediate local chromatin modifications.

Is paroxetine effective for treatment of premenstrual dysphoric disorder?

Yes, paroxetine is effective and FDA approved treatment of women with premenstrual dysphoric disorder. A number of well designed clinical trials have confirmed efficacy and safety of both continuous or intermittent regiments of paroxetine for treatment of premenstrual dysphoric disorder. A number of other antidepressants and hormaonal therapies were also shown to be effective and are FDA approved for treatment of women with premenstrual dysphoric disorder.

What is the FIRE (Functional Inference of Regulators of Expression) tool?

FIRE (Functional Inference of Regulators of Expression) is a tool to score both noncoding and coding SNVs based on their potential to regulate the expression levels of nearby genes.

Which are the musculoskeletal manifestations of Marfan syndrome?

Musculoskeletal manifestations of Marfan syndrome include scoliosis, dural ectasia, pectus excavatum and carinatum, arachnodactyly, otto pelvis (protrusio acetabuli), dolichostenomelia and ligamentous laxity.

Is HbA1c an ideal biomarker of well-controlled diabetes?

No. The HbA1c is a biomarker with a central role in the diagnosis and follow-up of patients with diabetes mellitus, although not a perfect one. It is associated with high morbidity and mortality, and is not an ideal biomarker for assessment of well-controlled diabetes.

What is the role of SDE2?

SDE2 is a previously uncharacterized essential gene required for ribosome biogenesis and the regulation of alternative splicing.

Is phosphoenolpyruvate carboxykinase 1 (PCK1) the rate-limiting enzyme in gluconeogenesis?

Yes, Pck1 is a rate-limiting gluconeogenic enzyme, where its deficiency or mutation contributes to serious clinical situations as neonatal hypoglycemia and liver failure.

Can IFNg induce the expression of IDO?

Yes, IFNG-induce up-regulation of indoleamine 2,3-dioxygenase (IDO)

Is lorcaserin associated with increased cancer risk?

The US Food and Drug Administration (FDA) reported an increased risk of cancer with lorcaserin in the follow-up of the CAMELLIA-TIMI 61 trial. However, subsequent meta-analysis did not confirm the increased risk of cancer with lorcaserin but suggests a trend in this direction, with a greater incidence of some subtypes such as lung and pancreas.

How does the Cholera toxin enter a cell?

Cholera toxin (CT), which is secreted by V. cholerae, can enter host cells by binding to GM1, a monosialoganglioside widely distributed on the plasma membrane surface of various animal epithelial cells.

Are tumour specific antigens originating from known protein coding genes?

Heat-shock proteins (HSPs) function as ubiquitous tumour-specific antigens, with the specificity residing in a population of bound peptides that identify the tissue of origin of the HSP. Tumour antigens are mostly of weak immunogenicity, because the vast majority are tumour-associated differentiation antigens already 'seen' by the patient's immune system.

What are the major classes of retrotransposons active in the human genome?

LINE-1 (L1), Alu, SVA

What is DECKO?

DECKO (Double Excision CRISPR Knockout) is a dual CRISPR tool, which is cloned using a single starting oligonucleotide, thereby affording simplicity and scalability to CRISPR knockout studies of non-coding genomic elements, including long non-coding RNAs.

Which disease is associated with DNAJB1-PRKACA fusion gene?

Fibrolamellar carcinoma is distinctive at clinical and histologic levels. A novel DNAJB1-PRKACA fusion gene characterizes almost all cases.

What are the "Ohnologs"?

Whole genome duplications (WGD) have now been firmly established in all major eukaryotic kingdoms. In particular, all vertebrates descend from two rounds of WGDs, that occurred in their jawless ancestor some 500 MY ago. Paralogs retained from WGD, also coined 'ohnologs' after Susumu Ohno, have been shown to be typically associated with development, signaling and gene regulation.

What is the role of Hsp90 inhibition in cancer therapy?

Hsp90 inhibition is followed by G1/S cell cycle arrest, downregulation of key signalling proteins such as IGF-IR, Akt, IKK-α, IKK-β, FOXO1, ERK1/2 and c-Met, and sequestration-mediated inactivation of NF-κB, resulting in disruption of oncogenic signalling integrity, reduced cell proliferation, decline of cell motility, enhanced apoptotic cell death, and finally, sensitization of cancer cells to additional chemotherapy and/or radiotherapy.

Where are Goblet cells localized?

Goblet cells are found in the intestine, in the lungs, in the eyes etc. Goblet cells are localized in the epithelium.

Name a selective NK3R agonist.

Senktide is a highly potent and selective NK3R agonist.

Where is the histone variant CENPA preferentially localized?

Centromere protein A (Cenpa for mouse, CENP-A for other species) is an essential histone H3-like protein that localizes to the centromeric region of eukaryotic chromosomes, where it replaces conventional histone H3 and together with centromere-specific-DNA-binding factors directs the assembly of active kinetochores.

Is autosomal dominant inheritanced form of Osteogenesis imperfecta caused by mutations in the genes associated with collagen production?

Osteogenesis imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones. The autosomal dominant form of the disease is cause by a mutation in the COL1A1 or COL1A2 genes which produce type I collagen.

Is there any role of 5hmC in T-cell development and differentiation?

Yes. 5hmC is enriched in the gene body of highly expressed genes at all different stages of T-cell development in the thymus and that its presence correlates positively with gene expression. Further emphasizing the connection with gene expression, 5hmC is enriched in active thymus-specific enhancers and genes encoding key transcriptional regulators display high intragenic 5hmC levels in precursor cells at those developmental stages where they exert a positive effect.

What is the mechanism of action of anticoagulant medication Dabigatran?

Dabigatran is orally administered, reverisble direct and competetive inhibitor of both free and bouded thrombin.

Which species is the carrier of the SFTS ( severe fever with thrombocytopenia syndrome) virus?

The possibility that SFTSV transmission may occur by both the transstadial and transovarial routes was suggested by the fact that viral RNA was detected in Haemaphysalis longicornis at all developmental stages. Tick-derived sequences shared over 95.6% identity with human- and animal-derived isolates. This study provides evidence that implicates ticks as not only vectors but also, reservoirs of SFTSV.

What is nephropathic cystinosis?

Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by abnormal accumulation of intracellular cystine in various tissues including the brain, kidneys, bones, and eyes.

When is the protein OAS1 activated?

OAS1 is a IFN-stimulated gene. Antiviral response.

List potential reasons regarding why potentially important genes are ignored

Differences in attention can be explained, to a large extent, exclusively from a small set of identifiable chemical, physical, and biological properties of genes. Together with knowledge about homologous genes from model organisms, these features accurately predict the number of publications on individual human genes, the year of their first report, the levels of funding awarded by the National Institutes of Health (NIH), and the development of drugs against disease-associated genes.

Is TALEN being used on stem cells?

Yes, TALEN is being used on stem cells for genome editing.

Is there a vaccine for peanut allergy?

Yes, there is a vaccine for peanut allergy.

Is pazopanib an effective treatment of glioblastoma?

No. Pazopanib does not improve survival of glioblastoma patients.

What disease does BCG immunotherapy used to treat?

Bacillus Calmette-Guérin (BCG) immunotherapy is used for treatment of bladder cancer.

How many pseudokinases are there in the human kinome?

There are approximately 50 pseudokinases in the human kinome.

What is anophthalmia?

Microphthalmia, anophthalmia are the malformations of the eye, referring to a congenital absence, and a reduced size of the eyeball.

Is CD84 genetically associated with arthritis?

Three members of this gene family, Ly108, Ly9, and CD84, exhibit polymorphisms that strongly influence susceptibility to systemic autoimmunity, notably in mice, but also in some human populations. Our study demonstrates that an allele associated with response to etanercept therapy is also associated with CD84 gene expression, and further that CD84 expression correlates with Rheumatoid Arthritis disease activity.

Which genetic defects are observed in Prader-Willi syndrome?

The predominant genetic defects in Prader-Willi syndrome are 15q11-13 deletions of paternal origin and maternal chromosome 15 uniparental disomy, or rare imprinting mutations, combined with monoallelic expression of the paternal alleles.

What is the generic name of the Xofluza?

Baloxavir marboxi is the generic name of Xofluza. It is approved for influenza.

Which two genes are implicated in Juvenile polyposis syndrome?

Juvenile polyposis syndrome (JPS) is a rare autosomal dominant disorder predisposing to gastrointestinal hamartomatous polyps and cancer with a pathogenic SMAD4 or BMPR1A germline mutation being identified in about 40-50% of patients.

Are there sex differences in the transcriptome of the mouse hippocampus?

There are sex differences in the transcriptome of the developing mouse hippocampus.

What is Blount's disease?

Blount's disease (tibia vara) is a progressive form of genu varum due to asymmetrical inhibition of the postero medial portion of the proximal tibial epiphysis. It causes causes genu varum and internal tibial torsion. It is the most common cause of pathologic genu varum in children and adolescents

What is the localization of the protein encoded by the gene DNAJC11?

mitochondrial inner membrane

What are the main clinical components of the brain death exam?

The three essential findings in brain death are coma, absence of brain stem reflexes by neurologic exam including ancillary testing, and apnea. Studies can highlight the variability in practice in regard to the AT and supports the use of ancillary tests to determine BD in patients. Coma and brain stem reflexes can be determined by several ancillary tests Ancillary tests include electroencephalography, brainstem auditory evoked potentials, included somatosensory evoked potentials, transcranial Doppler ultrasonography, conventional cerebral angiography, and nuclear medicine flow study

Does GATA-1 regulate ribosomal protein genes?

Mutations in exon 2 interfere with the synthesis of the full-length isoform of GATA-1 and lead to the production of a shortened isoform, GATA-1s. These mutations have been found in patients with Diamond-Blackfan anemia (DBA), a congenital erythroid aplasia typically caused by mutations in genes encoding ribosomal proteins. Sixteen of the corresponding transcription factors are of particular interest, as they are housekeeping genes or show a direct link to hematopoiesis, tumorigenesis or leukemia (e.g. GATA-1/2, PU.1, MZF-1).

What is the mechanism of action of DNA topoisomerase II inhibitors?

DNA topoisomerase II inhibitors eliminate cancer cells by causing DNA double-strand breaks, finally leading to apoptotic cell death. Moreover, drug-induced histone eviction was also shown to be associated with attenuated DNA repair, epigenetic changes and transcpription deregulation.

What is Morel–Lavallée lesion?

Morel-Lavallée lesion is a closed degloving soft-tissue injury that results in the accumulation of a hemolymphatic fluid between the skin/superficial fascia and the deep fascia.

What percentage of C. elegans genes reside in operons?

Nearly 15% of the ~20,000 C. elegans genes are contained in operons, multigene clusters controlled by a single promoter. Our evidence indicates that the genome contains at least 1,000 operons, 2 8 genes long, that contain about 15% of all C. elegans genes.

What are the main clinical characteristics of Pendred syndrome?

Pendred syndrome is an autosomal recessive disorder characterized by congenital sensorineural deafness, goiter, and impaired iodide organification.

Which disease is included as an additional feature in the Goldberg-Shprintzen syndrome?

Shprintzen-Goldberg syndrome (SGS) is characterized by: craniosynostosis of the coronal, sagittal, or lambdoid sutures; dolichocephaly; distinctive craniofacial features; skeletal changes (dolichostenomelia, arachnodactyly, camptodactyly, pes planus, pectus excavatum or carinatum, scoliosis, joint hypermobility or contractures and C1/C2 spine malformation); neurologic abnormalities; intellectual disability; and brain anomalies (hydrocephalus, dilatation of the lateral ventricles, and Chiari 1 malformation). Cardiovascular anomalies may include mitral valve prolapse, mitral regurgitation/incompetence, aortic regurgitation and aortic root dilatation. Minimal subcutaneous fat, abdominal wall defects, myopia, and cryptorchidism in males, are also characteristic findings.Shprintzen-Goldberg syndrome (SGS) is characterized by craniosynostosis and marfanoid habitus.

Could the Menzerath-Altmann law be proved mathematically trivial in genomes?

Yes. The view of Menzerath-Altmann law in genomes, as inevitable, is seriously flawed.

List example genes that SWIM tool has identified and which are down-regulated in glioblastoma

SWIM is a software able to unveil a small pool of genes - called switch genes - critically associated with drastic changes in cell phenotype. Applying SWIM to the expression profiling of glioblastoma stem-like cells and conventional glioma cell lines identifies switch genes related to stem-like phenotype. SWIM identifies 171 switch genes that are all down-regulated in glioblastoma stem-like cells. This list encompasses genes like CAV1, COL5A1, COL6A3, FLNB, HMMR, ITGA3, ITGA5, MET, SDC1, THBS1, and VEGFC, involved in "ECM-receptor interaction" and "focal adhesion" pathways.

Describe nursemaid's elbow injury.

Nursemaid's elbow is a radial head subluxation caused by axial traction on the extended arm while the forearm is pronated, allowing for slippage of the radial head. Nursemaid's elbow usually occurs in young children when longitudinal traction is placed on the arm.

List the three main structures of the cytoskeleton.

Fibrillar polymers-actin filaments, microtubules, and intermediate filaments-are major constituents of the cytoskeleton.

Which gene is primarily associated with the Saethre-Chotzen syndrome?

Saethre-Chotzen syndrome is a craniosynostosis syndrome that is rarely diagnosed prenatally . It is caused by cytogenetic deletions or mutations of the TWIST1 gene . Of the 37 patients with classic features of the syndrome, the overall detection rate for TWIST mutations was 68% . Increased risk for developmental delay is associated with TWIST deletions .

Are Spinal Intradural Primary Malignant Peripheral Nerve Sheath Tumors(MPNST) rare in neurofibromatosis patients?

Spinal intradural primary malignant peripheral nerve sheath tumors (MPNST) are rare in patients without neurofibromatosis.

Is a mutation of the ZIKV's membrane protein prM responsible for the microcephaly in new-born infants?

Yes, a single mutation in the prM protein of Zika virus contributes to fetal microcephaly.

Can oleuropein aglycone interfere with amyloid aggregation?

Yes, oleuropein aglycone interferes in vitro and in vivo with amyloid aggregates.

Which syndromes are caused by LAMA1 mutations?

Poretti-Boltshauser and Joubert syndromes

List kinases that phosphorylates the protein Bora.

During cell division Bora becomes multiply phosphorylated by a variety of cell cycle kinases, including Aurora A and Plk1, and GSK3β and Cdk1 albeit at distinctive sites.

Which are the clinical characteristics of TSC?

Tuberous sclerosis or tuberous sclerosis complex (TSC) is a rare multi-system genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. A combination of symptoms may include seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, lung and kidney disease. TSC is caused by a mutation of either of two genes, TSC1 and TSC2, which code for the proteins hamartin and tuberin respectively. These proteins act as tumor growth suppressors, agents that regulate cell proliferation and differentiation.

LY450139 is investigational name of which drug?

LY450139 is investigational name of Semagacestat. It is a γ-secretase inhibitor developed for treatment for Alzheimer's disease. Chemical name of LY450139 is hydroxylvaleryl monobenzocaprolactam.

Are mutations in the C9orf72 gene associated with macular degeneration?

Amyotrophic lateral sclerosis (ALS) is characterized by motor neurone loss resulting in muscle weakness, spasticity and ultimately death. 5-10% are caused by inherited mutations, most commonly C9ORF72, SOD1, TARDBP and FUS.

Which are the lactate isomers?

Lactate contains a chiral carbon and thus has two optical isomers-d-lactate and l-lactate.

Which ApoE isoform is associated with hyperlipoproteinemia?

Type III hyperlipoproteinemia (HLP) is characterized by the accumulation of remnant lipoproteins in the plasma and it is associated with ApoE2 isoform. ApoE2 binds poorly to low density lipoprotein receptors, resulting in defective remnant lipoprotein clearance.

Which disease(s) are caused by HEX A deficiency?

Mutations in the HEX A gene, encoding the alpha-subunit of beta-hexosaminidase A (Hex A), are the cause of Tay-Sachs disease as well as of juvenile, chronic, and adult GM2 gangliosidoses.

What is Leptomeningeal disease?

Neoplastic leptomeningeal disease (LMD) represents infiltration of the leptomeninges by tumor cells.

Which domain of the MOZ/MYST3 protein complex associates with histone H3?

The double PHD finger domain of MOZ/MYST3 induces a-helical structure of the histone H3 tail

What kind of enzyme is encoded by the proto-oncogene ABL1?

ABL-family proteins comprise one of the best conserved branches of the tyrosine kinases. Each ABL protein contains an SH3-SH2-TK (Src homology 3-Src homology 2-tyrosine kinase) domain cassette, which confers autoregulated kinase activity and is common among nonreceptor tyrosine kinases. This cassette is coupled to an actin-binding and -bundling domain, which makes ABL proteins capable of connecting phosphoregulation with actin-filament reorganization. Two vertebrate paralogs, ABL1 and ABL2, have evolved to perform specialized functions.

Which proteins participate in the formation of the Notch transcriptional activation complex?

The Notch intracellular domain (NICD) forms a transcriptional activation complex with the DNA-binding factor CSL and a transcriptional co-activator of the Mastermind family (MAML). ICN binds to a highly conserved DNA-binding transcription factor called CSL (also known as RBP-Jkappa, CBF1, Suppressor of Hairless, and Lag-1) and recruits Mastermind-like transcriptional co-activators to form a transcriptional activation complex.

Is there a crystal structure of the full-length of the flaviviridae NS5(Methyltransferase - RNA depended RNA Polymerase) ?

Yes, there is the crystal Structure of the full-length Japanese encephalitis virus (Flaviviridae) NS5 - PDB:4K6M

What causes Ocular Thelaziasis?

Ocular Thelaziasis is caused by Thelazia callipaeda.

Which gene is responsible for the Liebenberg syndrome?

Liebenberg syndrome is a genetic disease caused by heterozygous mutations or deletions of the zinc finger E-box-binding homeobox 2 (ZEB2) gene. Patients present with prominent neurological, medical, and behavioral symptoms.

Has ATF4 transcription factor been linked to cancer and neoplastic transformation?

Yes, ATF4 transcription factor has been linked to cancer and neoplastic transformation.