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Describe the INSPEcT R package
INSPEcT is a computational tool to infer mRNA synthesis, processing and degradation dynamics from RNA- and 4sU-seq time course experiments.
MOTIVATION: Cellular mRNA levels originate from the combined action of multiple regulatory processes, which can be recapitulated by the rates of pre-mRNA synthesis, pre-mRNA processing and mRNA degradation. Recent experimental and computational advances set the basis to study these intertwined levels of regulation....
Which molecule is targeted by Teprotumumab?
Teprotumumab is a human monoclonal antibody that targets IGF-1R. It can be used for treatment of thyroid eye disease.
PURPOSE OF REVIEW: In recent years, immunosuppressive therapy, as an alternative to corticosteroids, has been proposed as novel agents which target the various antigens involved in the pathogenesis of Graves' ophthalmopathy. Although the lack of randomized and controlled studies suggests caution in generalizing res...
Which protein is encoded by the protein APOBEC3C?
The gene APOBEC3C codes for: apolipoprotein B mRNA editing enzyme catalytic polypeptide-like 3C
Gastric cancer is one of the leading causes of cancer-associated mortality worldwide. Cytotoxin‑associated gene A (CagA) has been reported to be associated with gastric diseases. Phosphatase and tensin homolog (PTEN) and tet methylcytosine dioxygenase 1 (Tet1) are important tumor‑suppressor genes. The present study...
Does AZD3759 cross the blood brain barrier?
AZD3759 is a novel EGFR tyrosine kinase inhibitor with high capability to penetrate the blood-brain barrier.
Since the discovery of sensitizing EGFR mutations as a predictive marker of sensitivity to EGFR tyrosine kinase inhibitors (TKIs), the field of targeted therapy in non-small cell lung cancer (NSCLC) has been revolutionized. Patients harbouring these sensitizing mutations treated with EGFR TKI have derived significa...
What is the major sequence determinant for nucleosome positioning?
G+C content is the primary determinant of MNase-derived nucleosome occupancy.
We assess the role of intrinsic histone-DNA interactions by mapping nucleosomes assembled in vitro on genomic DNA. Nucleosomes strongly prefer yeast DNA over Escherichia coli DNA, indicating that the yeast genome evolved to favor nucleosome formation. Many yeast promoter and terminator regions intrinsically disfavo...
Which is the primary enzyme metabolizing esomeprazole?
Esomeprazole is primarily metabolized by CYP2C19.
Which factors contribute to the risk of very-early-onset inflammatory bowel disease?
Somalatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease, particularly atrial fibrillation and dysregulation of transcphenne muscular dystrophy, as well as other genetic variation, in the early phase of disease.
Author information: (1)MOE Key Laboratory of Gene Function and Regulation, Department of Gastroenterology and Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, School of Life Sciences, Sun Yat-sen University, Guangzhou, China. (2)MOE Key Laboratory of Gene Function and Regulation, Dep...
What disease is treated with BIVV001?
BIVV001 fusion protein has been developed as Factor VIII replacement therapy for hemophilia A
BACKGROUND: Factor VIII replacement products have improved the care of patients with hemophilia A, but the short half-life of these products affects the patients' quality of life. The half-life of recombit factor VIII ranges from 15 to 19 hours because of the von Willebrand factor chaperone effect. BIVV001 (rFVIIIF...
What is the mode of action of Thiazovivin?
Thiazovivin is a selective small molecule that directly targets Rho-associated kinase (ROCK) and increases expression of pluripotency factors.
Today, there is a need for a platform to efficiently generate and maintain a feeder free culture of pluripotent stem cells by small molecules or pharmacological agents. Induced pluripotent stem cell (iPSC) is considered a promising resource for restorative cell therapy in clinical areas. While fully reprogrammed iP...
Explain the association between Barr bodies (nuclear inclusions) and the X chromosome?
Barr body is an inactivated X chromosome in the normal female somatic cell.
Addition of exogen DB-c AMP in medium of human fibroblasts culture, with 46 XX karyotypes, enables us to observe a high frequency of Barr bodies, about 80 or 85%. This observation suggests that the condensation of the X chromosome in the form of Barr bodies depends on the level of endogen cyclic AMP. The chromosome ...
Is the zelda transcription factor a chromatin remodeller?
During developmental transition, the zygotic genome is largely transcriptionally quiescent and undergoes significant chromatin remodeling. In Drosophila, the DNA-binding protein Zelda (also known as Vielfaltig) is required for this transition and for transcriptional activation of the zygotic genome. Zelda is differenti...
The trithorax group (trxG) of activators and Polycomb group (PcG) of repressors are believed to control the expression of several key developmental regulators by changing the structure of chromatin. Here, we have sought to dissect the requirements for transcriptional activation by the Drosophila trxG protein Zeste,...
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).
BACKGROUND: The CYP2C19*2 or *3 loss-of-function (LOF) allele is associated with high platelet reactivity (HPR) on clopidogrel treatment. East Asians may benefit from a lower dose of prasugrel due to their more potent platelet inhibitory response. The impact of LOF alleles on the pharmacodynamic response to half-dos...
Describe Full Spectrum of Intolerance to Loss-of-function (FUSIL)
Full Spectrum of Intolerance to Loss-of-function (FUSIL) is a cross-species gene classification across the full spectrum of mutations in genes of unknown function. FUSIL has been proposed as a method to identify potentially pathogenic variants in genes not previously associated with rare diseases.
Author information: (1)Clinical Pharmacology, William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, EC1M 6BQ, UK. (2)European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK. (3...
Is capmatinib effective for glioblastoma?
No. Combination of capmatinib buparlisib resulted in no clear activity in patients with recurrent PTEN-deficient glioblastoma.
Conflict of interest statement: In relation to this presentation, we declare the following, real or perceived conflicts of interest: M. van den Bent has received grants from Abbvie, and honoraria from Cellgene, BMS, Boehringer, AGIOS and VaXIMM. A. Azaro has received consulting fees from Orion Pharmaceuticals and A...
Are there antimicrobial proteins in royal jelly?
Yes, Jelleines, isolated as novel antibacterial peptides from the Royal Jelly (RJ) of bees, exhibit broad-spectrum protection against microbial infections.
Typically, antimicrobial peptides (AMPs) are short positive charged peptides serving a key role in innate immunity as well as antimicrobial activity. Discovering novel therapeutic agents is considered as an undeniable demand due to increasing microbial species with antibiotic resistance. In this direction, the uniq...
What are the years of the initiation and completion of the Human Genome project?
The Human Genome Project was initiated in 1990 and completed in 2003.
Information obtained from the Human Genome Project, initiated in 1990 and targeted for completion in 2005, will influence both health care and nursing practice. It will substantially revise our understanding of disease susceptibility and causation. Additional genetic tests will be developed and gene therapies explo...
Which methods infer 3D genome structure without proximity ligation?
SPRITE is a method that enables genome-wide detection of higher-order interactions within the nucleus. Transposase-mediated analysis of chromatin looping (Trac-looping) for simultaneous detection of multiscale genome-wide chromatin interactions among regulatory elements and chromatin accessibility. Genome architecture ...
Since Jacob and Monod's characterization of the role of DNA elements in gene control, it has been recognized that the linear organization of genome structure is important for the regulation of gene transcription and hence the manifestation of phenotypes. Similarly, it has long been hypothesized that the spatial org...
How many genes are screened by the FoundationOne companion diagnostic?
FoundationOne CDx comprises a 324-gene panel.
Interaction of WDR5 with which gene has a critical role in pancreatic cancer?
Mechanistically, WDR5 functions to sustain proper execution of DNA replication in pancreatic ductal adenocarcinoma (PDAC) cells, as previously suggested by replication stress studies involving MLL1, and c-Myc, also found to interact with WDR5. It was indeed demonstrated that interaction with c-Myc is critical for this ...
Author information: (1)Department of Genomic Medicine, UT MD Anderson Cancer Center, Houston, TX 77030, USA; Department of Molecular and Cellular Oncology, UT MD Anderson Cancer Center, Houston, TX 77030, USA; Department of Experimental Oncology, European Institute of Oncology, Milan 20139, Italy. Electronic address...
Can thiotepa be recommended for treatment of osteosarcoma?
No. Thiotepa did not improve survival of patients with osteosarcoma and therefore can not be recommended for treatment of osteosarcoma.
Introduction. Osteosarcoma relapse has a poor prognosis, with less than 25% survival at 5 years. We describe the experience of the French Society of Paediatric Oncology (SFCE) with high dose (HD) thiotepa and autologous stem cell transplantation (ASCT) in 45 children with relapsed osteosarcoma. Patients and Methods...
What is known about aberrant proteolytic activity in disease?
Research into Alzheimer's disease pathology and treatment has often focused on presenilin proteins. These proteins provide the key catalytic activity of the γ-secretase complex in the cleavage of amyloid-β precursor protein and resultant amyloid tangle deposition. Over the last 25 years, screening novel drugs to contro...
INTRODUCTION: In the nonobese diabetic (NOD) mouse model of Sjögren's syndrome, lymphocytic infiltration is preceded by an accumulation of dendritic cells in the submandibular glands (SMGs). NOD mice also exhibit an increased frequency of mature, fractalkine receptor (CX3C chemokine receptor [CX3CR]1) expressing mo...
Does a comet assay measure radiation induced mutations?
Yes. The comet assay is frequently used to measure DNA damage in individual cells.
The comet assay is frequently used to measure DNA damage in individual cells. In order to better understand the mechanisms behind the technique, we have studied the behaviour of DNA under different electrophoresis conditions in mammalian cells exposed to gamma radiation. The comet tails obtained after neutral elect...
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.
In the mouse blastocyst, epiblast cells are newly formed shortly before implantation. They possess a unique developmental plasticity, termed naive pluripotency. For development to proceed, this naive state must be subsumed by multi-lineage differentiation within 72 h following implantation. In vitro differentiation...
Has the companion diagnostic HercepTest received FDA approval?
Yes, the HercepTest has received FDA approval.
Which R/Bioconductor package has been developed for visualizing differential amino acid group usage in proteomics?
DagLogo is an R/Bioconductor package for identifying and visualizing differential amino acid group usage in proteomics data. DagLogo allows various formats for input sets and provides comprehensive options to build optimal background models. It implements different reduced AA alphabets to group AAs of similar propertie...
Dasatinib and Blinatumomab are used for treatment of which disease?
Dasatinib and Blinatumomab produces molecular responses in patients with Philadelphia chromosome-positive acute lymphoblastic leukemia.
Liposomal vincristine is designed to reduce neurotoxicity and increase dose intensity delivery, and has been approved as salvage therapy in relapsed/refractory acute lymphoblastic leukemia (ALL). Our aim was to evaluate the response rate, toxicities, and outcome of adults with newly diagnosed ALL who received lipos...
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.
Gluconeogenesis, the reverse process of glycolysis, is a favorable mechanism at conditions of glucose deprivation. Pck1 is a rate-limiting gluconeogenic enzyme, where its deficiency or mutation contributes to serious clinical situations as neonatal hypoglycemia and liver failure. A recent report confirms that Pck1 i...
What conditions are diagnosed using the scratch collapse test?
Scouring collapse test is used for the diagnosis of cts, cubital tunnel syndrome and carpal tunnel syndrome.
BACKGROUND: The scratch collapse test is a recently described provocative test for diagnosis of peripheral nerve compression. METHODS: The scratch collapse test was studied prospectively in 24 consecutive patients with a diagnosis of common peroneal nerve compression neuropathy. The diagnosis was confirmed by histor...
Which is the main gene signature in Systemic Lupus Erythematosus (SLE)?
Systemic Lupus Erythematosus (SLE) has a type I interferon (IFN) gene signature.
Systemic lupus erythematosus (SLE) is a prototype systemic autoimmune disease characterized by flares of high morbidity. Using oligonucleotide microarrays, we now show that active SLE can be distinguished by a remarkably homogeneous gene expression pattern with overexpression of granulopoiesis-related and interferon...
Has FTY720 been considered for the treatment of stroke?
Yes, FTY720 is a strong candidate for stroke treatment.
FTY720 (Fingolimod) is a known sphingosine-1-phosphate (S1P) receptor agonist that exerts strong anti-inflammatory effects and was approved as the first oral drug for the treatment of multiple sclerosis by the US Food and Drug Administration (FDA) in 2010. FTY720 is mainly associated with unique functional "antagon...
List R packages for lipidomics
R packages for lipidomics: lipidomics, masspix, lipidms, lipidr and lipid mini-on.
INTRODUCTION: Mass spectrometry imaging (MSI) experiments result in complex multi-dimensional datasets, which require specialist data analysis tools. OBJECTIVES: We have developed massPix-an R package for analysing and interpreting data from MSI of lipids in tissue. METHODS: massPix produces single ion images, perfor...
Which disease can be treated with Relugolix.
Relugolix has a role in treatment of prostate cancer, uterine fibroids, endometriosis and uterine myomas.
OBJECTIVE: To investigate the noninferiority of relugolix compared with leuprorelin acetate in reducing heavy menstrual bleeding associated with uterine leiomyomas. METHODS: In a double-blind, double-dummy trial, premenopausal women with uterine leiomyomas and heavy menstrual bleeding defined as a pictorial blood lo...
What is the effect of Carbendazim on bees?
Carbendazim is an environmental risk factor that likely weakens bee colonies, partially due to reduced expression of major royal jelly proteins, which may be potential causes of colony collapse disorder.
Publisher: Los abejorros están constantemente expuestos a una amplia gama de agentes estresantes bióticos y abióticos de los que deben defenderse para sobrevivir. Los patógenos y los pesticidas son importantes factores estresantes que influyen en la salud de los abejorros, tanto cuando actúan solos como en combinac...
What 3 organs are the sphincter of Oddi associated with?
Sphincter of Oddi is associated with the pancreatic duct, duodenum and gallbladder.
The sphincter of Oddi is a small sphincter which is strategically placed at the junction of the bile duct and pancreatic duct with the duodenum. It regulates the flow of bile and pancreatic juice into the duodenum and prevents reflux of duodenal contents into the ducts. The structure of the sphincter of Oddi differs...
List clinical phenotypes and molecular genetic features of patients with KMT2B-related disorders
Atypical patterns of dystonia evolution and a subgroup of patients presents with a non-dystonic neurodevelopmental phenotype. In addition to the previously reported systemic features there seem to be co-morbidities, including the risk of status dystonicus, intrauterine growth retardation, and endocrinopathies.
What is the use of Atogepant?
Atogepant is used for preventive treatment of migraine.
The incidence of migraine is higher among women than men and peaks during the reproductive years, when contraceptive medication use is common. Atogepant, a potent, selective antagonist of the calcitonin gene-related peptide receptor-in development for migraine prevention-is thus likely to be used by women taking or...
Is SMOC2 expressed during wound healing?
Yes, SMOC2 response to wounding.
Author information: (1)Developmental Biology and Stem Cells Department, Institute of Genetics and of Molecular and Cellular Biology (IGBMC), 1 rue Laurent Fries, BP 10142, 67404, Illkirch, France. (2)Centre National de la Recherche Scientifique, UMR7104, Illkirch, France. (3)Institut National de la Santé et de la Rec...
What is a potential alternate uses(repositioning) for Primaquine
Primaquine Diphosphate, a Known Antimalarial Drug, Blocks Vascular Leakage Acting Through Junction Stabilization. PD could be used as a novel drug for vascular leakage by maintaining endothelial integrity
Drug repositioning identifies new indications for known drugs. Here we report repositioning of the malaria drug amodiaquine as a potential anti-cancer agent. While most repositioning efforts emerge through serendipity, we have devised a computational approach, which exploits interaction patterns shared between comp...
Does daily atemoya juice intake change the pharmacokinetics of CYP1A2 substrates?
No, atemoya juice does not change the pharmacokinetics of CYP1A2 substrates.
BACKGROUND AND OBJECTIVES: Atemoya (Annona atemoya) is increasingly being consumed worldwide because of its pleasant taste. However, only limited information is available concerning possible atemoya-drug interactions. In the present study, the issue of whether atemoya shows food-drug interactions with substrate dru...
What is caused by gain-of-function variants in SYK?
Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice.
Is Cabotegravir effective for HIV prevention?
Yes, Cabotegravir is effective for HIV prevention.
PURPOSE OF REVIEW: Preexposure prophylaxis for HIV prevention is highly effective when taken as prescribed. Adherence to required dosing regimens for protection may pose challenges. Long-acting agents for HIV prevention may have the potential to improve adherence via favorable pharmacokinetics supportive of infrequ...
What is the function of the protein SERT?
SERT is a Serotonin transporter.
Dynorphin (DYN) is an endogenous neurosecretory peptide which exerts its activity by binding to the family of G protein-coupled receptors, namely the kappa opioid receptor (KOR). Opioids are associated with pain, analgesia, and drug abuse, which play a central role in mood disorders with monoamine neurotransmitter ...
Are G-quadruplexes(G4) possible drug targets for glioblastoma?
The 2H2-6M(4)-oxazole telomestatin derivative (6OTD) targets Glioma stem cells through G4 stabilization and promotion of DNA damage responses. Therefore, G4s are promising therapeutic targets for glioblastoma.
Guanine-rich oligonucleotides (GROs) are promising therapeutic candidate for cancer treatment and other biomedical application. We have introduced a G-quadruplex (G4) ligand, 3,6-bis(1-methyl-4-vinylpyridinium) carbazole diiodide, to monitor the cellular uptake of naked GROs and map their intracellular localization...
Is RUNX1T1 associate with obesity?
Yes, the rs34269950 SNP of the RUNX1T1 gene was significantly associated with obesity risk and metabolic abnormalities. Specifically, compared to AA genotype, rs34269950 del/del genotype was associated with a 1.47 [95% confidence interval (CI): 1.01-2.14, P = 0.042] fold higher rate of obesity risk.
BACKGROUND: Runt-related transcription factor 1 (RUNX1T1) isoforms are involved in adipogenesis. RUNX1T1 is mediated by the fat mass and obesity-associated (FTO). However, the extent to which RUNX1T1 single-nucleotide polymorphisms (SNPs) are associated with obesity risk or metabolic abnormalities in a community po...
Is Adamts18 deficiency associated with cancer?
Yes. ADAMTS18 is a novel tumor suppressor and is critical to the pathology of human colorectal cancer. Adamts18 deficiency enhances tumorigenesis and intestinal inflammation through elevated Wnt/β-catenin and p38MAPK/ERK1/2 signaling and promotes colon cancer in this mouse model.
What causes Ocular Thelaziasis?
Ocular Thelaziasis is caused by Thelazia callipaeda.
Thelaziasis is an ocular infection of several mammals caused by nematodes of the genus Thelazia (Spirurida, Thelaziidae). The adults live in the lachrymal ducts and conjunctival sacs of infected animals, and transmission occurs by means of different species of muscids. T. rhodesi, T. skrjabini, and T. gulosa affect ...
What is the role of cytidine deaminase in healthy cells?
Activation-induced cytidine deaminase (AID) catalyses the deamination of deoxycytidines to deoxyuracils within immunoglobulin genes to induce somatic hypermutation and class-switch recombination.
The human genome contains 11 APOBEC (apolipoprotein B mRNA editing catalytic polypeptide-like) cytidine deaminases classified into four families. These proteins function mainly in innate antiviral immunity and can also restrict endogenous retrotransposable element multiplication. The present study focuses on APOBEC...
Summarize the cause of autosomal dominant Spinocerebellar Ataxia type 3.
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is a progressive autosomal dominant neurodegenerative disease caused by abnormal CAG repeats in the exon 10 of ATXN3.
Spinocerebellar ataxia type 1 and type 3 (SCA1, SCA3) are autosomal domit neurodegenerative disorders caused by expanded CAG trinucleotide repeats in novel genes. In our collective of SCA1 and SCA3 families, we observed distortion of the Mendelian 1:1 segregation of the disease. The mutated alleles were preferentia...
Through which pathway does the FTO-guided demethylation of GADD46 drive myogenesis?
FTO-mediated demethylation of GADD45B promotes myogenesis through the activation of p38 MAPK pathway.
N6-methyladenosine (m6A) modification plays a critical role in mammalian development. However, the role of m6A in the skeletal muscle development remains largely unknown. Here, we report a global m6A modification pattern of goat skeletal muscle at two key development stages and identified that the m6A modification ...
What are the key characteristics of the syndrome caused by ANKRD17 loss-of-function variants?
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphia.
Is Ozanimod effective for Ulcerative Colitis?
Yes, Ozanimod is effective for Ulcerative Colitis.
The sphingosine-1-phosphate receptor-1 (S1P1) agonist ozanimod ameliorates ulcerative colitis, yet its mechanism of action is unknown. Here, we examine the cell subsets that express S1P1 in intestine using S1P1-eGFP mice, the regulation of S1P1 expression in lymphocytes after administration of dextran sulfate sodium...
What is the function of the protein PIEZO1?
Piezo1 is a key element of the mechanotransduction process and can transduce mechanical signals into biological signals by mediating Ca2+ influx, which in turn regulates cytoskeletal remodeling and stress alterations.
Mechanosensitive channels are integral membrane proteins that sense mechanical stimuli. Like most plasma membrane ion channel proteins they must pass through biosynthetic quality control in the endoplasmic reticulum that results in them reaching their destination at the plasma membrane. Here we show that N-linked g...
Please list 3 biologic(monoclonal antibody) drugs used to treat migraine headaches.
Large molecule biologic antibody (mAb) approaches that are given subcutaneously to neutralize circulating CGRP peptide (fremanezumab, galcanezumab) or block CGRP receptors (erenumab) have shown consistent efficacy and tolerability in multicenter migraine prevention trials and are now approved for clinical use.
BACKGROUND: Calcitonin gene-related peptide (CGRP) is a validated target for the treatment of episodic migraine. Here we assess the safety, tolerability, and efficacy of TEV-48125, a monoclonal anti-CGRP antibody, in the preventive treatment of high-frequency episodic migraine. METHODS: In this multicentre, randomis...
What is the most common N6-methyladenosine (m6A) methylation modification site of RUNX1T1?
The RRACH motif is the most common N6-methyladenosine (m6A) methylation modification site of RUNX1T1.
BACKGROUND: Runt-related transcription factor 1 (RUNX1T1) isoforms are involved in adipogenesis. RUNX1T1 is mediated by the fat mass and obesity-associated (FTO). However, the extent to which RUNX1T1 single-nucleotide polymorphisms (SNPs) are associated with obesity risk or metabolic abnormalities in a community po...
Describe GREEKC
The COST Action Gene Regulation Ensemble Effort for the Knowledge Commons (GREEKC, CA15205, www.greekc.org) organized nine workshops in a four-year period, starting September 2016. The workshops brought together experts from all over the world working on various steps in the knowledge management process that focuses on...
Author information: (1)Systems Biology Group, Department of Biology, Norwegian University of Science and Technology, Trondheim, Norway. Electronic address: martin.kuiper@ntnu.no. (2)Faculty of Information & Communication Technology, University of Malta, Msida, Malta. (3)Departamento de Informática y Sistemas, Univers...
Which receptors are targeted by Tirzepatide?
Tirzepatide is dual glucose-dependent insulinotropic polypeptide (GIP) and glucagon-like peptide-1 (GLP-1) receptor agonist that demonstrated substantially greater glucose control and weight loss (WL) compared with selective GLP-1RA dulaglutide.
OBJECTIVE: To determine the effect of tirzepatide, a dual agonist of glucose-dependent insulinotropic polypeptide and glucagon-like peptide 1 receptors, on biomarkers of nonalcoholic steatohepatitis (NASH) and fibrosis in patients with type 2 diabetes mellitus (T2DM). RESEARCH DESIGN AND METHODS: Patients with T2DM ...
Is esophageal adenocarcinoma associated with aberrant glycosylation?
Yes, Altered glycoprotein expression has been demonstrated in tissue from patients with Barrett's esophagus and esophageal cancer but the mechanisms regarding such changes are unknown.
Aberrant glycosylation has been implicated in various types of cancers and changes in glycosylation may be associated with signaling pathways during maligt transformation. Glycomic profiling of blood serum, in which cancer cell proteins or their fragments with altered glycosylation patterns are shed, could reveal t...
What is the function of a chaperonin?
Molecular chaperones promote the correct folding of proteins in aggregation-prone cellular environments by stabilizing nascent polypeptide chains and providing appropriate folding conditions. They are involved in the development of pathological processes, including--atherosclerosis and coronary heart disease.
BACKGROUND: Mitochondria are known to be a major target during ischemic cardiac injury. Previous studies have shown that in rodent myogenic cells and in the hearts of transgenic mice in which the heat shock or stress protein 70 is increased, there is a marked tolerance to ischemia/reperfusion injury. Two other heat...
Can FTO promote pancreatic cancer development?
No, the m6A demethylase FTO suppresses pancreatic cancer tumorigenesis.
Pancreatic cancer is the deadliest maligcy of the digestive system and is the seventh most common cause of cancer-related deaths worldwide. The incidence and mortality of pancreatic cancer continue to increase, and its 5-year survival rate remains the lowest among all cancers. N6-methyladenine (m6A) is the most abu...
Which disorder is caused by biallelic mutations in G-Protein coupled receptor kinase 1 (GRK1)?
Biallelic mutations in G-Protein coupled receptor kinase 1 (GRK1) cause Oguchi disease, a rare subtype of congenital stationary night blindness (CSNB).
Author information: (1)Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK. (2)School of Molecular and Cellular Biology, University of Leeds, Leeds, UK. (3)Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Healt...
Which disease is treated with Tebentafusp?
Tebentafusp is used for treatment of Metastatic Uveal Melanoma.
Uveal melanoma (UM) is the most common primary intraocular maligcy in adults. UMs are usually initiated by a mutation in GNAQ or GNA11, unlike cutaneous melanomas, which usually harbour a BRAF or NRAS mutation. The annual incidence in Europe and the USA is ~6 per million population per year. Risk factors include fa...
Is Lysozyme abundant in human tears?
Yes, lysozyme is the most prevalent protein in tear fluid.
We studied the behaviour of three lipid tear products, commercialised by the same brand, as Langmuir films at the air/liquid interface to simulate the ocular environment. No significant differences were observed in the surface behaviour of two of them disclosing the same composition, but commercialised for different...
What is Neuromedin U (NmU)
Neuromedin U (NmU) is a highly conserved neuropeptide and has multiple physiological and pathophysiological roles detected, ranging from smooth muscle contraction, feeding, energy balance to tumorigenesis, stress responses, and inflammation.
Neuromedin U (NMU) is a neuropeptide with potent activity on smooth muscle which was isolated first from porcine spinal cord and later from other species. It is widely distributed in the gut and central nervous system. Peripheral activities of NMU include stimulation of smooth muscle, increase of blood pressure, al...
Is FTY720 FDA approved?
Yes, FTY720 was approved by the US Food and Drug Administration (FDA) in 2010.
FTY720 (Fingolimod) is a known sphingosine-1-phosphate (S1P) receptor agonist that exerts strong anti-inflammatory effects and was approved as the first oral drug for the treatment of multiple sclerosis by the US Food and Drug Administration (FDA) in 2010. FTY720 is mainly associated with unique functional "antagon...
Describe SPar-K
SPar-K is a method to search for archetypical chromatin architectures by partitioning a set of genomic regions characterized by chromatin signal profiles around ChIP-seq peaks and other kinds of functional sites. This method efficiently deals with problems of data heterogeneity, limited misalignment of anchor points an...
SUMMARY: We present SPar-K (Signal Partitioning with K-means), a method to search for archetypical chromatin architectures by partitioning a set of genomic regions characterized by chromatin signal profiles around ChIP-seq peaks and other kinds of functional sites. This method efficiently deals with problems of dat...
What is the mechanism of action of donanemab?
Donanemab is a new monoclonal antibody that uniquely targets Aβ(p3-42), a pyroglutamate form of Amyloid-β (Aβ) exclusively found in plaques.
BACKGROUND: A hallmark of Alzheimer's disease is the accumulation of amyloid-β (Aβ) peptide. Doemab, an antibody that targets a modified form of deposited Aβ, is being investigated for the treatment of early Alzheimer's disease. METHODS: We conducted a phase 2 trial of doemab in patients with early symptomatic Alzhe...
Is cytokeratin a tumor marker?
Yes, cytokeratin 19 fragment antigen 21-1 (CYFRA21-1) is a tumor marker.
PURPOSE: To explore the concentration of squamous cell carcinoma antigen (SCCA), cytokeratin fragment antigen 21-1 (CYFRA21-1) in patients with laryngeal squamous cell carcinoma (LSCC) and its correlation with tumorigenesis and progression. METHODS: A total of 78 patients with LSCC admitted to our hospital from Febr...
What are TAMs in cancer therapy?
TAMs are Tumor Associated Macrophages and are important in Cancer therapy.
Macrophages are one of the principal host cell populations in solid tumors. They are capable, due to their plasticity, of acquiring phenotypes that either combat (M1 type) or promote (M2 type) neoplastic growth. These cells, known as tumor-associated macrophages (TAMs), play complex but pivotal roles in the outcome...
What is the relationship between RUNX1T1 and FTO?
FTO controls exonic splicing of adipogenic regulatory factor RUNX1T1 by regulating m6A levels around splice sites and thereby modulates differentiation. The effect of FTO on adipogenesis appears to be mediated via enhanced expression of the pro-adipogenic short isoform of RUNX1T1.
The fat mass and obesity-associated (FTO) gene plays a pivotal role in regulating body weight and fat mass; however, the underlying mechanisms are poorly understood. Here we show that primary adipocytes and mouse embryonic fibroblasts (MEFs) derived from FTO overexpression (FTO-4) mice exhibit increased potential f...
Which java utility has been developed for class hidden markov models?
JUCHMME is an open-source software package designed to fit arbitrary custom Hidden Markov Models (HMMs) with a discrete alphabet of symbols, and is used for biological sequence analysis and class hidden markov models in Java EE 8 and Java EE 9.
SUMMARY: JUCHMME is an open-source software package designed to fit arbitrary custom Hidden Markov Models (HMMs) with a discrete alphabet of symbols. We incorporate a large collection of standard algorithms for HMMs as well as a number of extensions and evaluate the software on various biological problems. Importan...
What is the mechanism of action of Etesevimab?
Etesevimab is a neutralizing antibody indicated for treatment of coronavirus disease 2019 (COVID-19) in patients with early mild or moderate disease.
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) continues to spread rapidly worldwide. This study is the first to report the tolerability, safety, pharmacokinetics (PK), and immunogenicity of a recombit human anti-SARS-CoV-2 monoclonal antibody, etesevimab (CB6, JS016, LY3832479, or LY-CoV016), in heal...
List known pseudokinases.
TRIB1 TRIB2 TRIB3 MLKL ULK4 HER3 CASK
ABTL0812 is a first-in-class small molecule with anti-cancer activity, which is currently in clinical evaluation in a phase 2 trial in patients with advanced endometrial and squamous non-small cell lung carcinoma (NCT03366480). Previously, we showed that ABTL0812 induces TRIB3 pseudokinase expression, resulting in ...
Where is the body would the Peyer's patches be found
Peyer's patches (PPs) play a major role in intestinal mucosal immunity and are located in the gut.
In the rabbit intestine Peyer's patches can easily be distinguished. They are found in the jejunum and ileum, but not in the duodenum. The highest number observed is seven. In most animals the first, i.e. proximally situated patch has a rather well-defined place in the beginning of the jejunum; similarly, the last,...
Is tofacitinib a JAK inhibitor?
Yes, tofacitinib is a small JAK inhibitor.
Several cytokines signalling via Janus Kinase (JAK) proteins have been implicated in the pathogenesis of immune-mediated inflammatory diseases, including psoriasis and rheumatoid arthritis (RA). Tofacitinib, a small JAK inhibitor, is approved for the treatment of RA and has demonstrated good efficacy in psoriasis p...
Describe the GenomeAsia 100K Project
The GenomeAsia 100K Project (GenomeAsia100K Project) aims to identify and catalogue genetic variation, population structure, disease associations and founder effects in populations across Asia and worldwide. It includes a whole-genome sequencing reference dataset from 1,739 individuals of 219 population groups and 64 c...
The underrepresentation of non-Europeans in human genetic studies so far has limited the diversity of individuals in genomic datasets and led to reduced medical relevance for a large proportion of the world's population. Population-specific reference genome datasets as well as genome-wide association studies in div...
Which disease is treated with Risdiplam?
Risdiplam is approved for spinal muscular atrophy.
SMA is an inherited disease that leads to loss of motor function and ambulation and a reduced life expectancy. We have been working to develop orally administrated, systemically distributed small molecules to increase levels of functional SMN protein. Compound 2 was the first SMN2 splicing modifier tested in clinic...
What is protein palmitoylation?
Protein S-palmitoylation, the covalent lipid modification of the side chain of Cys residues with the 16‑carbon fatty acid palmitate, is the most common acylation, and it enhances the membrane stability of ion channels. This post-translational modification (PTM) determines a functional mechanism of ion channel life cycl...
Rho GTPases play central roles in a wide variety of cellular processes, including cytoskeletal dynamics, cell adhesion and cell polarity. RhoU and RhoV are Rho GTPases that have some atypical properties compared with classical Rho family members, such as the presence of N- and C-terminal extension regions, unusual ...
Αre plants from the genus Strychnos the original source of curare?
Species of plants from the genus Strychnos are the source of curare.
The history to about 1850 of the muscle-relaxant poison curare is discussed, especially the developments leading to the botanical identification of the plants that yield the alkaloidal active principles: Loganiaceae (Strychnos species) and Menispermaceae (Abuta, Chondrodendron, and Curarea species). One of the earl...
When was galcanezumab approved by FDA?
Galcanezumab was approved by the FDA in September 2018.
Monoclonal antibodies against calcitonin gene-related peptide (CGRP) or its receptor (CLR + RAMP1) offer considerable improvements over existing drugs in migraine prophylaxis and are the first designed to act on the trigeminal pain system. Erenumab is approved by the FDA and EMA and has reached the market since May...
Are variants in FHF2 (also known as FGF13) associated with encephalopathy?
Yes. FHF2 (also known as FGF13) variants are a cause of infantile-onset developmental and epileptic encephalopathy.
Author information: (1)Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK. Electronic address: fryae@cardiff.ac.uk. (2)Department of Biological Sciences, Hunter College of City University, 695...
Tofersen has been developed for treatment of which disease?
Tofersen is an antisense oligonucleotide that mediates the degradation of superoxide dismutase 1 (SOD1) messenger RNA to reduce SOD1 protein synthesis is being studied for the treatment of amyotrophic lateral sclerosis due to SOD1 mutations.
BACKGROUND: Tofersen is an antisense oligonucleotide that mediates the degradation of superoxide dismutase 1 (SOD1) messenger RNA to reduce SOD1 protein synthesis. Intrathecal administration of tofersen is being studied for the treatment of amyotrophic lateral sclerosis (ALS) due to SOD1 mutations. METHODS: We condu...
What is the cause of lactose intolerance?
Lactose intolerance is a common condition caused by lactase deficiency and may result in symptoms of lactose malabsorption (bloating, flatulence, abdominal discomfort, and change in bowel habits). Four clinical subtypes of lactose intolerance may be distinguished, namely lactase deficiency in premature infants, congeni...
Lactose intolerance is a common condition caused by lactase deficiency and may result in symptoms of lactose malabsorption (bloating, flatulence, abdominal discomfort, and change in bowel habits). As current data is limited, the aim of our study was to assess the efficacy of probiotics with a β-galactosidase activi...
What is Etizolam?
Etizolam is a benzodiazepine analogue that is approved for use in Japan, Italy and India as an anxiolytic drug with a pharmacologic profile similar to that of the classic benzodiazepines. Neurochemical research suggests that etizolam may have selectivity for the subpopulation of Y-aminobutyric acid type A receptors ass...
A double-blind study was carried out in 30 female patients with generalized anxiety disorders associated with depressive symptoms to compare the effectiveness and tolerability of etizolam and alprazolam. Patients were allocated at random to receive one or other drug at a dosage of 0.5 mg twice daily for 5 weeks. As...
Is AZD9668 a VEGF mRNA drug?
AZD9668 is a reversible and selective inhibitor of neutrophil elastase.
BACKGROUND: Neutrophil elastase (NE) is implicated in chronic obstructive pulmonary disease (COPD). AZD9668 is a reversible and selective inhibitor of NE, well tolerated at doses of 60 mg bid during Phase I/IIa development. METHODS: This 12-week, randomised, double-blind, placebo-controlled, Phase IIb, trial (NCT010...
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.
Author information: (1)Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK; Department of Medical Genetics, University of Cambridge, Cambridge CB2 0QQ, UK. (2)Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome 00161, Italy. (3)Department of Haematol...
What is the use of pegcetacoplan?
Pegcetacoplan is promising for paroxysmal nocturnal haemoglobinuria and Geographic Atrophy.
PURPOSE: Geographic atrophy (GA), a late stage of age-related macular degeneration (AMD), is a major cause of blindness. Even while central visual acuity remains relatively well preserved, GA often causes considerable compromise of visual function and quality of life. No treatment currently exists. We evaluated the...
What is the activity of a Oligosaccharyltransferases ?
oligosaccharyltransferases (OSTs), which catalyze the attachment of glycans to specific amino acid residues in target proteins
Protein glycosylation, or the attachment of sugar moieties (glycans) to proteins, is important for protein stability, activity, and immunogenicity. However, understanding the roles and regulations of site-specific glycosylation events remains a significant challenge due to several technological limitations. These l...
On what chromosome would the MKKS gene for McKusick-Kaufman(AKA Kaufman-McKusick) syndrome be found?
The MKKS gene is mapped to chromosome 20
McKusick-Kaufman syndrome (MKKS, MIM 236700) is a human developmental anomaly syndrome comprising hydrometrocolpos (HMC), postaxial polydactyly (PAP) and congenital heart disease (CHD). MKKS has been mapped in the Old Order Amish population to 20p12, between D20S162 and D20S894 (ref. 3). Here we describe the identi...
Which maternal CYP2D6 related 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.
Describe the web application VICTOR
VICTOR is a free, dependency-free visual analytics web application that allows the visual comparison of the results of various clustering algorithms. It can handle multiple cluster set results simultaneously and compare them using ten different metrics. Clustering results can be filtered and compared with the use of da...
Clustering is the process of grouping different data objects based on similar properties. Clustering has applications in various case studies from several fields such as graph theory, image analysis, pattern recognition, statistics and others. Nowadays, there are numerous algorithms and tools able to generate clust...
What is GLS-5700?
GLS-5700 is a synthetic, consensus DNA vaccine encoding the ZIKV premembrane and envelope proteins that was tested for Zika virus disease.
1. BACKGROUND: Zika virus (ZIKV) infection has been associated with prolonged viral excretion in human semen and causes testicular atrophy and infertility in 10-week-old immunodeficient mice. METHODS: Male IFNAR-/- mice, knockout for type I interferon receptor, were immunized with GLS-5700, a deoxyribonucleic acid-...
Is histone variant H3.3K27M associated with gliomas?
Yes, Diffuse intrinsic pontine gliomas (DIPG) are the most aggressive brain tumors in children with 5-year survival rates of only 2%. About 85% of all DIPG are characterized by a lysine-to-methionine substitution in histone 3, which leads to global H3K27 hypomethylation accompanied by H3K27 hyperacetylation.
Histone H3.3 mutations are a hallmark of pediatric gliomas, but their core oncogenic mechanisms are not well-defined. To identify major effectors, we used CRISPR-Cas9 to introduce H3.3K27M and G34R mutations into previously H3.3-wildtype brain cells, while in parallel reverting the mutations in glioma cells back to...
What is another name for keratomileusis?
Report the outcomes of laser in situ keratomileusis (LASIK) for high myopia correction after long-term follow-up
BACKGROUND: LASIK (Laser in situ keratomileusis) is used in refractive surgery especially for correction of higher degrees of myopia. Preservation of Bowman's layer as well as less postoperative pain and the slight to absent subepithelial haze are regarded as advantages compared to photorefractive keratectomy (PRK)....
In which motif of the RUNX1T1 protein is the rs34269950 SNP located?
The rs34269950 SNP of RUNX1T1 is located in the 'RRACH' motif.
BACKGROUND: Runt-related transcription factor 1 (RUNX1T1) isoforms are involved in adipogenesis. RUNX1T1 is mediated by the fat mass and obesity-associated (FTO). However, the extent to which RUNX1T1 single-nucleotide polymorphisms (SNPs) are associated with obesity risk or metabolic abnormalities in a community po...
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.
Author information: (1)Department of Physiology, School of Medicine, Taipei Medical University, 110301 Taipei, Taiwan; Institute of Biomedical Sciences, Academia Sinica, 115201 Taipei, Taiwan. (2)Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. (3)Institute of...
Which drugs are included in the CAPOX chemotherapy regimen for colorectal cancer?
CAPOX chemotherapy regimen for colorectal cancer includes capecitabine plus oxaliplatin.
BACKGROUND: Cetuximab is an IgG1 monoclonal antibody targeting the epidermal growth factor receptor and is able to reverse the resistance to irinotecan in patients with metastatic colorectal cancer (mCRC). This phase II trial evaluates the safety and efficacy of cetuximab combined with capecitabine and oxaliplatin ...
Is FKBP52 encoding a chaperone ?
Yes, FKBP52 is a co-chaperone.
The present study aimed to examine the expression of FK‑506 binding protein 52 (FKBP52) in the ovary tissues of rats with polycystic ovarian syndrome (PCOS) and its action on mediating androgen receptor (AR) through the mitogen‑activated protein kinase (MAPK)/extracellular signal‑regulated kinase (ERK) pathway. PCOS...
Isotocin is an homolog of what hormone?
Isotocin is a homolog of oxytocin.
A wide range of physiological and behavioral processes, such as social, sexual, and maternal behaviors, learning and memory, and osmotic homeostasis are influenced by the neurohypophysial peptides oxytocin and vasopressin. Disruptions of these hormone systems have been linked to several neurobehavioral disorders, i...
Fingolimod is a selective antagonist for which molecule?
Fingolimod is a selective S1P1 functional antagonist by induction of irreversible S1P1 internalization and degradation.
Does αCGRP have amyloidogenic properties?
Yes. αCGRP, a 37-residue-long peptide hormone, is a novel amyloidogenic member of the CGRP family
Author information: (1)Section of Cell Biology and Biophysics, Department of Biology, School of Sciences, National and Kapodistrian University of Athens, Panepistimiopolis, Athens 157 01, Greece. Electronic address: etsiolaki@biol.uoa.gr. (2)Section of Cell Biology and Biophysics, Department of Biology, School of Sc...