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What is the Triad of Alport Syndrome?

Alport syndrome is a rare condition characterized by the clinical triad of nephritic syndrome, sensorineural deafness, and ophthalmological alterations.

Describe the mechanism of action of Givosiran.

Givosiran is an aminolevulinate synthase 1 (ALAS1)-directed small interfering RNA (siRNA) covalently linked to a ligand to enable specific delivery of the siRNA to hepatocytes. This results in downregulation of ALAS1 mRNA and prevents accumulation of neurotoxic δ-aminolevulinic acid and porphobilinogen levels that are associated with acute porphyria attacks.

Can mitochondria transfer from cell to cell?

Yes, the recently discovered phenomenon of mitochondrial transfer between mammalian cells has gained momentum since it was first described in cell culture systems more than a decade ago.

SPAG5 was implicated in which cancers?

SPAG5 was implicated in prostate cancer, lung cancer and cervical cancer.

Which protein is the main inhibitor of protein phosphatase 1 (PP1)?

Inhibitor 1 (I-1) is a protein inhibitor of protein phosphatase 1 (PP1), a major eukaryotic Ser/Thr phosphatase. Nonphosphorylated I-1 is inactive, whereas phosphorylated I-1 is a potent PP1 inhibitor.

Which are the state-of-the-art computational tools for the prediction of gene fusion events?

Gene fusion detection - also known as the 'Rosetta Stone' method - involves the identification of fused composite genes in a set of reference genomes, which indicates potential interactions between its un-fused counterpart genes in query genomes. A few methods/tools and computational pipelines for the detection of gene fusion events have been introduced. The basic steps followed in these approaches consist of (i) all-against-all sequence comparison, (ii) detection of non-overlapping similarities of two genes/proteins (components) to a single gene/protein (composite), and optionally (iii) elimination of putative spurious hits (e.g. due to promiscuous domains) achieves via clustering based on sequence similarity and examining dense regions of the resulting graph or by querying the PFAM database. An advantage of gene fusion analysis is that functional associations can be predicted even in cases of genes of unknown function. Due to the computationally intense nature of these approaches, precompiled data of this type are often organized in specialized databases. Tools and databases developed for this purpose include (in alphabetical order): fdfBLAST, FusionDB, InPrePPI, (Integrated method for Prediction of Protein-Protein Interactions), MosaicFinder, Phydbac2, PLEX, Predictome, Rosetta Stone method, STRING.

What is the composition of the gamma-secretase complex?

Gamma-secretase is a multisubunit enzyme complex which is consists of four proteins: presenilin 1 (PS1) or presenilin 2 (PS2), nicastrin, Aph-1 and Pen-2.

Is TREM2 associated with Alzheimer's disease?

A rare variant of the TREM2 gene, which encodes the triggering receptor encoded in myeloid cells 2 (rs75932628-T) causing a R47H substitution has been associated with both early and late onset Alzheimer's disease in various populations. Emerging evidence has demonstrated that TREM2 could suppress inflammatory response by repression of microglia-mediated cytokine production and secretion, which may prevent inflammation-induced bystander damage of neurons. Higher levels of TREM2 mRNA (p = 0.002) and protein (p < 0.001) were identified in AD patients which indicates that TREM2 might serve as a novel noninvasive biomarker for AD diagnosis. Based on the potential protective actions of TREM2 in AD pathogenesis, targeting TREM2 might provide new opportunities for AD treatment.

What is the effect of the alleles CYP2C19*2 and CYP2C19*3 on CYP2C19 function?

The CYP2C19*2 and CYP2C19*3 alleles of CYP2C19 are associated with loss-of-function (LOF).

What is the pyroptotic pathway?

Pyroptosis is an inflammasome-mediated programmed cell death pathway.

What is the role of the AIMS65 score?

AIMS65 score is used to predict outcomes after upper GI bleeding.

What is the Barr body?

The Barr body is the inactive X chromosome in a female somatic cell. It is readily identified as plano-convex structure of 2-3 micron in diameter on the periphery of the nuclear membrane. One of the X-chromosomes by a random inactivation process condenses to form X-chromatin (Barr body) in early embryonic life. Once this occurs, it is final and fixed for that cell and all its descendants (1,2). Barr body is an inactivated X chromosome in the normal female somatic cell. Inactivation of these chromosomes is known as Lyonization. Lyonization has both genetic and clinical significance. Barr body can be easily identified with ordinary stains. It also helps in identifying the sex of an individual when used judiciously. The Barr body has long been recognized as the cytological manifestation of the inactive X chromosome (Xi) in interphase nuclei. Despite being known for over 50 years, relatively few components of the Barr body have been identified.

Is LPS a microbial product?

Yes, the lipopolysaccharide (LPS) is a component of the bacterial cell wall.

Which protein is regulated by Tudor interacting repair regulator (TIRR)?

Tudor interacting repair regulator (TIRR) regulates P53-binding protein 1 (53BP1) by masking its histone methyl-lysine binding function.

Which interleukins are inhibited by Dupilumab?

Dupilumab, a fully human monoclonal antibody that blocks interleukin-4 and interleukin-13, has shown efficacy in patients with asthma and elevated eosinophil levels.

Is flibanserin effetive for Hypoactive Sexual Desire Disorder?

Yes, flibanserin, a novel serotonin (5-HT)(1A) agonist and 5-HT(2A) antagonist, has been shown to increase sexual desire and reduce distress in women with Hypoactive Sexual Desire Disorder.

Is Alpers disease inherited in an autosomal recessive mode?

Alpers disease is a fatal neurogenetic disorder first described more than 70 years ago. It is an autosomal recessive, developmental mitochondrial DNA depletion disorder characterized by deficiency in mitochondrial DNA polymerase gamma (POLG) catalytic activity, refractory seizures, neurodegeneration, and liver disease.

What are the most frequent non-canonical sequence motifs at the donor and acceptor splice sites in vertebrates?

There are two major exceptions to the canonical GT-AG dinucleotides at donor and acceptor sites: the GG-AG splice site pairs, recognized through the typical U2 splicing machinery, and the AT-AC splice pairs recognized by the U12 splicing machinery.

What is the Oncomine Dx Target test?

The Oncomine Dx Target Test (ODxTT) is a next-generation sequencing-based companion diagnostic test, that could facilitate access to multiple biomarker testing using small tissue samples to support therapy decisions for patients with advanced NSCLC.

Which are the most commonly reported pathological states associated with the formation of DNA G-quadruplexes?

There is a growing recognition for the profound role of G-quadruplexes in a wide spectrum of diseases, such as cancer, diabetes and cardiovascular disease. Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) were recently shown to be caused by expansion of a (GGGGCC)n/(GGCCCC)n repeat in the C9ORF72 gene. Treatment with a G-quadruplex interactive ligand was shown to achieve antifibrotic action. G-quadruplex forming sequences have also been linked with ADAM10 a primary candidate for anti-amyloidogenic activity in Alzheimer's. A G-quadruplex-interactive agent, telomestatin (SOT-095), induces telomere shortening with apoptosis and enhances chemosensitivity in acute myeloid leukemia.

Which R/bioconductor have been developed for copy number analysis?

CNVRanger, seqCNA, iGC, PLRS, SomatiCA, Copynumber, crlmm, KC-SMARTR are all R/bioconductor packages for copy number analysis

Does metformin alleviate atherosclerosis?

Yes. Metformin has been shown to decrease frequency of atherosclerosis-associated adverse effects in statin-intolerant patients and to slow the pathogenesis of type 2 diabetes mellitus.

Please list 3 diseases treated with Valtrex(valacyclovir)

Valtrex (valacyclovir) is an antiviral medication used to treat infections with: herpes zoster (shingles), herpes simplex genitalis (genital herpes), and herpes labialis (cold sores).

Is Huntington's disease is caused by expansion of a CTG repeat in the HTT gene on Chromosome 4?

No, Huntington's disease is caused by expansion of a CAG repeat (not CTG) in the HTT gene on Chromosome 4.

Are high-flow nasal cannulae effective for treatment of preterm infants?

Yes. The use of high-flow nasal cannulae is an increasingly popular alternative to nasal continuous positive airway pressure for noninvasive respiratory support of preterm infants after extubation. However, the use of high-flow nasal cannulae in preterm infants was shown to be associated with a higher rate of reintubation, increased exposure to oxygen and longer duration of respiratory support. High-flow nasal cannulae are also effective for treatment of apnea of prematurity.

Does fibronectin constitute a serum biomarker for Duchenne muscular dystrophy?

Compared to age-matched controls, fibronectin levels in DMD patients were found to be significantly increased, whereas in patients with Becker muscular dystrophy, Bethlem myopathy, or myasthenia gravis were close to the control levels. Additionally, progressive elevation in fibronectin levels was observed in longitudinal samples from DMD patients followed up for a period of 6 months up to 4 years. Therefore, fibronectin is a serum biomarker for Duchenne muscular dystrophy.

Is PF-05190457 an inverse agonist of the ghrelin receptor?

Yes, PF-05190457 is an inverse agonist of the ghrelin receptor.

Which is the literature-based database of phenotypes?

PheneBank is a Web-portal for retrieving human phenotype-disease associations that have been text-mined from the whole of Medline. This approach exploits state-of-the-art machine learning for concept identification by utilising an expert annotated rare disease corpus from the PMC Text Mining subset. Evaluation of the system for entities is conducted on a gold-standard corpus of rare disease sentences and for associations against the Monarch initiative data.

Describe the usefulness of the SPIKE database in human signaling pathways

The rapid accumulation of knowledge on biological signaling pathways and their regulatory mechanisms has highlighted the need for specific repositories that can store, organize and allow retrieval of pathway information in a way that will be useful for the research community. SPIKE (Signaling Pathways Integrated Knowledge Engine; http://www.cs.tau.ac.il/&~spike/) is a database for achieving this goal, containing highly curated interactions for particular human pathways, along with literature-referenced information on the nature of each interaction. To make database population and pathway comprehension straightforward, a simple yet informative data model is used, and pathways are laid out as maps that reflect the curator’s understanding and make the utilization of the pathways easy. The database currently focuses primarily on pathways describing DNA damage response, cell cycle, programmed cell death and hearing related pathways. Pathways are regularly updated, and additional pathways are gradually added. The complete database and the individual maps are freely exportable in several formats. The database is accompanied by a stand-alone software tool for analysis and dynamic visualization of pathways.

What is the evolutionary process described by the "Muller's ratchet" model?

The vast majority of mutations are deleterious and are eliminated by purifying selection. Yet in finite populations, purifying selection cannot completely prevent the accumulation of deleterious mutations. Muller's ratchet is a paradigmatic model for the accumulation of deleterious mutations in a population of finite size, due to genetic drift. Muller's ratchet suggests that population bottlenecks, which may constrain the genetic diversity of a population, could lead to extinction of all individuals with the least number of deleterious mutations, due to a stochastic fluctuation. When the most-fit class of genotypes is lost, it is lost irreversibly.

What is the suggested therapy for Mycobacterium avium infection?

The activity of TLC G-65 (a liposomal gentamicin preparation), alone and in combination with rifapentine, clarithromycin, clofazimine and ethambutol, was evaluated in the beige mouse (C57BL/6J--bgj/bgj) model of disseminated Mycobacterium avium infection. TLC G-65 in combination with rifapentine appears to be an attractive regimen for the treatment of infections caused by bacteria in the M. avium complex. Rifampin 10 mg/kg daily, ciprofloxacin 500 mg twice daily, clofazimine 100 mg every day, and ethambutol 15 mg/kg orally daily for 24 weeks, with or without amikacin 10 mg/kg intravenously or intramuscularly 5 days weekly for the first 4 weeks. In vivo phage treatment may also be used in some cases.

Which mutations of SCN5A gene are implicated in Brugada syndrome?

The following mutations of SCN5A gene have been linked to Brugada syndrome:I137M, p.W1095X; c.3284G>A, R27H, E901K, G1743R, V728I, N1443S, E1152X, c.664C>T; p.Arg222X, Ala2>Thr, Ala735, Ala735>Thr, Val1340>Ile, IVS18-1G>A, E1784K (14x), F861WfsX90 (11x), D356N (8x), G1408R (7x), G400A, H558R, W822X, Q55X, V95I, A1649V, delF1617, c.4810+3_4810+6dupGGGT, K1527R, A1569P, R367H, A735V, R1192Q, D1795.

What is the typical alteration of the thyroid profile metabolism early after coronary artery bypass graft surgery?

Low T3 Syndrome is the more frequent alteration of thyroid hormone profile early after coronary artery bypass graft surgery.

Where do mitochondrial DNA deletion breakpoints tend to occur?

Circular dichroism and UV spectral analysis demonstrated that mitochondrial G-rich sequences near deletion breakpoints prevalent in human disease form G-quadruplex DNA structures.

What is the difference between CRISPR-Cas12a and CRISPR-Cpf1?

CRISPR-Cas12a and CRISPR-Cpf1 refer to the same thing.

What is caused by de novo VPS4A mutations?

De novo VPS4A mutations cause multisystem disease with abnormal neurodevelopment. VPS4A normal function is required for multiple human developmental and cellular processes.

List mediators that are released from mast cells?

tryptase histamine heparin proteoglycan chymase cytokines 2,3-dinor-11β-PGF2α leukotriene (LT)E4

Are there transposon-free regions in mammalian genomes?

Yes. Despite the presence of over 3 million transposons separated on average by approximately 500 bp, the human and mouse genomes each contain almost 1000 transposon-free regions (TFRs) over 10 kb in length. The majority of human TFRs correlate with orthologous TFRs in the mouse, despite the fact that most transposons are lineage specific. Many human TFRs also overlap with orthologous TFRs in the marsupial opossum, indicating that these regions have remained refractory to transposon insertion for long evolutionary periods. Over 90% of the bases covered by TFRs are noncoding, much of which is not highly conserved. Most TFRs are not associated with unusual nucleotide composition, but are significantly associated with genes encoding developmental regulators, suggesting that they represent extended regions of regulatory information that are largely unable to tolerate insertions, a conclusion difficult to reconcile with current conceptions of gene regulation.

What is known about saponins in crops and human consumption?

Saponins are considered antinutrients for humans and have a bitter taste. They should be removed from the crops before consumption.

What is the chromosomal abnormality associated with Klinefelter Syndrome

About 1 in 650 boys are born with an extra X chromosome (47,XXY or Klinefelter syndrome). 47,XXY

List the essential aminoacids.

Leucine Isoleucine Valine Tryptophan Cysteine Methionine Lysine Phenylalanine

What is the incidence of sudden cardiac death among young athletes?

the incidence of sudden cardiac death among young athletes ranges from 0.5 to 3 per 100,000 athletes per year .

Can valproic acid prolong survival of glioblastoma patients?

Yes, there is evidence to suggest that valproic acid (VPA) is associated with prolonged survival of glioblastoma patients. Several studies have indicated that VPA has radiosensitizing effects for gliomas and radioprotective influence on normal brain tissue or hippocampal neurons.

Are patients with Sjogren syndrome at increased risk for lymphoma?

Yes, the heightened risk of non-Hodgkin lymphoma (NHL) development in primary Sjogren syndrome is well established. Five per cent of patients with primary Sjogren's syndrome develop malignant non-Hodgkin's lymphoma, usually of the mucosa-associated lymphoid tissue (MALT) and most frequently located in the major salivary glands. The incidence of lymphoma is higher in patients with Sjögren's syndrome than in the general population.

Is Stat4 a transcription factor?

Yes, Stat4 is a transcription factor. Stat4 is a member of the signal transducer and activator of transcription (STAT) family of molecules that localizes to the cytoplasm. STAT4 regulates various genes expression as a transcription factor after it is phosphorylated, dimerizes and translocates to the nucleus.

Is single-cell analysis (SCA) possible in proteomics?

No, it is not yet feasible, although smaller pilot studies has been performed where a limited number of proteins has been analysed.

Which member of the human mycobiota is associated to atherosclerosis?

Mucor racemosus is negatively associated with carotid atherosclerosis

Which algorithm has been developed for trio-based benchmarking of variant calls?

Geck is a tool for trio-based comparative benchmarking tool of variant calls. It is a statistical mixture model for comparing two variant calling pipelines from genotype data they produce after running on individual members of a trio.

Which genes does thyroid hormone receptor beta1 regulate in the heart?

β-MHC, HCN4, KCND2/3, SERCA, TRbeta1, alpha-MHC

During which stage of the cell cycle is cohesin deposited on the yeast genome?

In the budding yeast, cohesin is loaded onto the chromosome during the late G1 phase, establishes sister chromatid cohesion concomitant with DNA replication, and dissociates by the telophase.

Are deletions of chromosomal regulatory boundaries associated with congenital disease?

Yes. Enhancer adoption caused by deletions of regulatory boundaries may contribute to a substantial minority of copy-number variation phenotypes and should thus be taken into account in their medical interpretation.

Is Phospholemman a membrane protein?

Yes, FXYD1 (encoding phospholemman) is a transmembrane protein.

What alternate indication has Vanoxerine been repositioned for?

Vanoxerine's effects were strongly frequency-dependent and we repositioned it for treatment of atrial fibrillation and flutter. Vanoxerine has been in clinical trials for Parkinsonism, depression and cocaine addiction but lacked efficacy.

What is known about the PYHIN proteins?

The human PYHIN proteins, AIM2, IFI16, IFIX, and MNDA, are critical regulators of immune response, transcription, apoptosis, and cell cycle. Absent in melanoma 2 (AIM2) is a member of the PYHIN (pyrin and HIN domain-containing protein) family with important roles in sensing double-stranded DNA (dsDNA) and assembling the AIM2 inflammasome, which has wide-ranging, pro-inflammatory and pro-pyroptotic properties.

What is CPX351?

CPX-351, a novel liposomal formulation which encapsulates cytarabine and daunorubicin in 5:1 molar ratio, has shown promising efficacy, leading to recent US FDA approval for front-line therapy for patients with therapy-related AML and AML with myelodysplasia-related changes based on a large multicenter Phase III clinical trial.

Can PRL3-zumab inhibit PRL3+ cancer cells in vitro and in vivo?

PRL3-zumab specifically inhibits PRL3+ cancer cells in vivo, but not in vitro.

Which RNA polymerase transcribes enhancer RNAs?

Analogously to mRNAs, the non-protein-encoding enhancer RNAs are synthesized by RNA Pol II and post-transcriptionally modified by addition of a 5'-cap and a 3'-poly (A) tail.

Was tamoxifen tested for treatment of glioma patients?

Yes, tamoxifen was tested for glioma treatment. However, clinical efficacy of tamoxifen in glioma patients remains unclear and should be tested in further studies.

Is it possible to purify pseudopodia to be used for proteomic analysis?

Pseudopodia can be purified, using different strategies, in order to be used in proteomic studies.

What is the major difference between eucaryotes and procaryotes?

Eucaryotes have a nucleolus, Procaryotes do not. Eucrayotes have a nuclear membrane, organelles and differ in transcription and translation. Procaryotes have polycistronic RNA and the initiation of protein synthesis proceeds with an initiator tRNA which is found to be modified (formylated) in procaryotes and not in eucaryotes.

What are the CADD scores?

Combined Annotation-Dependent Depletion (CADD) is a widely used measure of variant deleteriousness that can effectively prioritize causal variants in genetic analyses, particularly highly penetrant contributors to severe Mendelian disorders. CADD is an integrative annotation built from more than 60 genomic features, and can score human single nucleotide variants and short insertion and deletions anywhere in the reference assembly.

What is the function of ketohexokinase-A?

The central fructose-metabolising enzyme is ketohexokinase (KHK), which exists in two isoforms: KHK-A and KHK-C.

What is the association between adiponectin and migraine?

There is evidence to suggest that adiponectin plays a role in migraine. Increase in body fat elevates adiponectin and leptin secretion which in turn impair inflammatory processes that could be contributing to migraine risk. In episodic migraine patients, adiponectin was associated with migraine severity and predictive of acute treatment response. Serum adiponectin levels are increased in women chronic daily headache sufferers.

Where is the proteasome located?

The proteasome can be found in perinuclear and nuclear location, as well as in cytosolic compartments, such as mitochondria and endoplasmic reticulum. Proteasome-mediated degradation of cell cycle regulatory proteins, production and loading of antigenic peptides onto HLA molecules, and transient homing of diverse virion proteins required for entry and/or egress have been also shown to be coordinated at the centrosome.

What is the use of the ATRIA score?

ATRIA score determines bleeding risk for patients on warfarin.

What is the effect of Chk2 splice variants on wild-type Chk2 kinase activity?

Chk2 splice variants have been demonstrated to exert a dominant-negative effect on wild-type Chk2 kinase activity.

Is there an increased risk for meningiomas in childhood leukemia survivors?

Yes, the risk of meningiomas is higher in children treated with cranial irradiation for leukemia.

What is the function of caspases?

Caspases are intracellular proteases that propagate programmed cell death, proliferation, and inflammation.

What is the role of elagolix in treatment of uterine fibroids?

Elagolix is approved for the treatment of moderate to severe pain caused by endometriosis. Elagolix is also effective for heavy bleeding caused by uterine fibroids.

Are there telemedicine applications for chronic pain management?

Yes, telemedicine is feasible and cost-effective for education and therapy of patients with chronic pain.

How are CpG island shores defined?

CpG island "shores" are defined as genomic regions up to 2kb distant to known CpG islands. Differential DNA methylation correlates with gene expression more strongly at CpG island shores than CpG islands.

Is vocimagene amiretrorepvec effective for recurrent high-grade glioma?

No. Despite initially promising results in a randomized, open-label phase 2/3 trial, among patients who underwent tumor resection for first or second recurrence of glioblastoma or anaplastic astrocytoma, administration of Toca 511 and Toca FC did not improve overall survival or other efficacy end points.

What are the clinical trial outcomes of metformin use in polycystic ovary disease?

Metformin treatment vs placebo significantly but modestly improves ovulation frequency in women with abnormal ovarian function/oligomenorrhea and polycystic ovaries, the lower BMI women were more likely to become pregnant. While in naturally conceiving normal weight PCOS women pre-treatment with metformin tends to improve pregnancy rates, pre-treatment with metformin prior to conventional IVF/ICSI in women with PCOS does not improve stimulation or clinical outcome. Metformin is an effective addition to Clomifene Citrate in term of reestablishment of ovulation and full-term pregnancies achievement. Studies on the effect of metformin on serum Anti-Mullerian Hormone levels /AMH concentrations bring conflicting results, from Metformin having no effect on AMH to Metformin treatment resulting in significant decrease of AMH levels, antral follicle numbers and ovarian volume. Metformin has been shown to cause significant weight loss (and leptin reduction) in PCOS.

Describe mechanism of action of Napabucasin.

Napabucasin (BBI608) is an orally administered small molecule that blocks stem cell activity in cancer cells by targeting the signal transducer and activator of transcription 3 (STAT3) pathway.

Is serotonin transported by platelets?

Yes, platelets transport serotonin.

Is PTEN a tumour suppressor?

Yes

What is GeneCodeq?

The exponential reduction in cost of genome sequencing has resulted in a rapid growth of genomic data. Most of the entropy of short read data lies not in the sequence of read bases themselves but in their Quality Scores-the confidence measurement that each base has been sequenced correctly. Lossless compression methods are now close to their theoretical limits and hence there is a need for lossy methods that further reduce the complexity of these data without impacting downstream analyses. GeneCodeq is a Bayesian method inspired by coding theory for adjusting quality scores to improve the compressibility of quality scores without adversely impacting genotyping accuracy.

Which is the largest metabolic gene cluster in yeast?

The DAL cluster is the largest metabolic gene cluster in yeast and consists of six adjacent genes encoding proteins that enable Saccharomyces cerevisiae to use allantoin as a nitrogen source.

Are Sidekick proteins members of the immunoglobulin superfamily?

Yes, sidekick are cell adhesion molecules of the immunoglobulin superfamily.

Is Calcium homeostasis important in cardiac physiology and pathophysiology?

Calcium homeostasis is very important in cardiac physiology and pathophysiology. Maintenance of cellular calcium homeostasis is critical to regulating cardiac contraction. Abnormalities in calcium homeostasis underlie cardiac arrhythmia, contractile dysfunction and cardiac remodelling.

What is the Versene Solution used for?

the Versene Solution is used for the detachment of stem cell sheets.

Which components of the stress granules are known to be related to motor neuron degeneration in Amyotrophic Lateral Sclerosis?

Of note, both ALS and FTD are characterized by pathological inclusions, where some well-known SG markers localize with the ALS related proteins TDP-43 and FUS.

Which subcortical brain structure is influenced the most by common genetic variants?

The highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regions form circuits with cortical areas to coordinate movement, learning, memory and motivation, and altered circuits can lead to abnormal behaviour and disease. Five novel genetic variants influencing the volumes of the putamen and caudate nucleus were identified. These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08 × 10(-33); 0.52% variance explained) showed evidence of altering the expression of the KTN1 gene in both brain and blood tissue.

Which is the "bonding hormone"?

Oxytocin is known as the 'bonding hormone' due its role in promoting mother-child and pair bonding.

What is RiboTag profiling?

RiboTag is a flexible tool for measuring the translational state of targeted cells in heterogeneous cell cultures.

Which are the major transcription factors regulating glycolysis in mammals?

The main positive transcriptional regulator of Glycolysis in mammals is HIF1-alpha (Hypoxia Inducible Factor 1a). HIF1-alpha is upregulated by the oncogenes c-Myc and Src, which therefore also positively regulate glycolysis. Several reports have linked HIF-1α induction with STAT3 activation. SIRT6 appears to function as a corepressor of the transcription factor Hif1alpha. NF-κB also stimulates glycolysis through the inhibition of PDK4 expression. Loss of the widely expressed transcription factor Oct1 induces a coordinated metabolic shift: mitochondrial activity and amino acid oxidation are increased, while glucose metabolism is reduced. HNF4alpha is critical for regulating glucose transport and glycolysis and in doing so is crucial for maintaining glucose homeostasis.

Which is the mechanism used for synthesis of a highly functional N-truncated dystrophin isoform that attenuates dystrophinopathy?

Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice

What is Contrave prescribed for?

Contrave(?) is a combination of naltrexone hydrochloride extended release and bupropion hydrochloride extended release for the treatment of obesity

Has CPX-351 been approved by the FDA and the EMA?

Yes, CPX-351 has been approved by the US FDA and the EMA.

Which factors are considered in the ABCD2 score?

Age, Blood pressure, Clinical features, Duration of symptoms and Diabetes are included in the ABCD2 score, which is used to identify patients having a transient ischemic attack who are at high risk for imminent stroke.

Is Apelin usually decreased in diabetes?

Different studies in both animals and humans have shown that plasma apelin concentrations are usually increased during obesity and type 2 diabetes.

Are Epoxyeicosatrienoic acids (EETs) synthesized by cytochrome P450 epoxygenases from arachidonic acid?

Epoxyeicosatrienoic acids (EETs) are fatty acid signaling molecules synthesized by cytochrome P450 epoxygenases from arachidonic acid

Which organisms are the focus of the Wormbase?

WormBase continues to advance its practices on data acquisition, curation and retrieval to most effectively deliver comprehensive knowledge about Caenorhabditis elegans, and genomic information about other nematodes and parasitic flatworms.

Which component of the Influenza A Virus affects mRNA transcription termination?

Defective Pol II termination occurs independently of the ability of the viral NS1 protein to interfere with host mRNA processing. Instead, this termination defect is a common effect of diverse cellular stresses and underlies the production of previously reported downstream-of-gene transcripts (DoGs).

Who received the Nobel prize for development of CRISPR?

The 2020 Nobel Prize in Chemistry was awarded to CRISPR-Cas pioneers Emmanuelle Charpentier and Jennifer Doudna. Charpentier and Doudna pioneered the site-specific CRISPR gene-editing technology that has revolutionized cancer research and treatment.

How long in bp is the human pseudoautosomal region 2 (PAR2)?

The human pseudoautosomal region 2 (PAR2), which is located in the long arm of chromosome 9 (LTR6B) and consists of 32 exons, is320-kb long.

What is the target of Volanesorsen?

Volanesorsen is a second-generation antisense oligonucleotide inhibiting apoC-III (apolipoprotein C-III) transcription/translation that has been recently approved in Europe for Familial Chylomicronemia Syndrome (FCS) treatment.

What is BioASQ?

BIOASQ assesses the ability of systems to semantically index very large numbers of biomedical scientific articles, and to return concise and user-understandable answers to given natural language questions by combining information from biomedical articles and ontologies.

Can DMSO as an additive improve proteomic analysis results?

Quantitative precisions improved significantly when DMSO (dimethylsulfoxide) was added to the matrix solution. Introducing to the 80% formic acid injection solution an organic solvent such as acetonitrile or acetonitrile-DMSO induced further retention selectivity, and increasing levels of organic solvents reduced on-column retention. Low percentages of dimethylsulfoxide (DMSO) in liquid chromatography solvents lead to a strong enhancement of electrospray ionization of peptides, improving the sensitivity of protein identification in bottom-up proteomics by up to tenfold.

Unlike DNA, RNA is not methylated, yes or no?

In addition to DNA methylation, reversible epigenetic modification occurring in RNA has been discovered recently. The most abundant type of RNA methylation is N6-methyladenosine (m6A) modification, which is dynamically regulated by methylases ("writers"), demethylases ("erasers") and m6A-binding proteins ("readers")