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Which programming language has been used for implementing GWAR?
Stata
MOTIVATION: In the context of genome-wide association studies (GWAS), there is a variety of statistical techniques in order to conduct the analysis, but, in most cases, the underlying genetic model is usually unknown. Under these circumstances, the classical Cochran-Armitage trend test (CATT) is suboptimal. Robust ...
Describe f-scLVM
Single-cell RNA-sequencing (scRNA-seq) allows studying heterogeneity in gene expression in large cell populations. Such heterogeneity can arise due to technical or biological factors, making decomposing sources of variation difficult. F-scLVM (factorial single-cell latent variable model) is a method based on factor ana...
Author information: (1)European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK. fbuettner.phys@gmaill.com. (2)Current address: Helmholtz Zentrum München-German Research Center for Environmental Health, Institute of Computational Bi...
Does promoter shape vary across populations?
Yes. Promoter shape varies across populations and affects promoter evolution and expression noise. This is accompanied by differences in the expression levels of different genes, which may reflect differences in their regulatory mechanisms.
Animal promoters initiate transcription either at precise positions (narrow promoters) or dispersed regions (broad promoters), a distinction referred to as promoter shape. Although highly conserved, the functional properties of promoters with different shapes and the genetic basis of their evolution remain unclear....
How large is a lncRNAs?
lncRNAs are defined as RNA transcripts longer than 200 nucleotides that are not transcribed into proteins
BACKGROUND: Long noncoding RNAs (lncRNAs) are more than 200 nucleotides in length and lack transcriptional ability. The biological function of lncRNAs in oral squamous cell carcinoma (OSCC) remains unclear. The aim of this study was to identify the dysfunction of lncRNA in OSCC. RESULTS: We analyzed the transcriptom...
What is MLE4901?
MLE4901 is an oral neurikinin 3 receptor antagonist that has been shown to safely and effectively relieve hot flush symptoms in menopausal women without the need for oestrogen exposure.
BACKGROUND: Hot flushes affect 70% of menopausal women and often severely impact physical, psychosocial, sexual, and overall wellbeing. Hormone replacement therapy is effective but is not without risk. Neurokinin B signalling is increased in menopausal women, and has been implicated as an important mediator of hot ...
What is the drug chloroquine or hydroxychloroquine used for?
Chloroquine (CQ) has been used for decades as the primary chemotherapeutic drug for the treatment of malaria. Hydroxychloroquine (HCQ), a 4-aminoquinolone antimalarial, is regarded as the oral therapy of choice for cutaneous and systemic lupus erythematosus (SLE). It is also licensed for rheumatoid arthritis (RA). Chlo...
OBJECTIVE: We have previously shown that exogenous administration of the nuclear protein high mobility group box 1 (HMGB1) improves angiogenesis after tissue ischemia. Antagonizing HMGB1 prolongs muscle necrosis and deters regeneration. In this study, we evaluated HMGB1 expression in peripheral arterial disease (PA...
Does xaliproden improve prognosis of amyotrophic lateral sclerosis?
No. There is not sufficient high quality evidence that xaliproden significantly improves prognosis of amyotrophic lateral sclerosis patients.
BACKGROUND: Motor neuron disease (MND), which is also known as amyotrophic lateral sclerosis (ALS), causes a wide range of symptoms but the evidence base for the effectiveness of the symptomatic treatment therapies is limited. OBJECTIVES: To summarise the evidence from Cochrane Systematic Reviews of all symptomatic ...
What is Telangiectasia?
Telangiectasia (macroscopically visible dilated skin vessels)
Scleroderma (progressive systemic sclerosis) is a systemic autoimmune disorder characterised by skin sclerosis, calcinosis and changes in microvasculature. The etiology of the disease is unknown but both genetic and environmental factors have been implicated. Telangiectasia (macroscopically visible dilated skin ves...
Is cathepsin L active in endosomes?
yes, Cathepsin L is found in the Late Endosome/Lysosome.
Hendra virus is a highly pathogenic paramyxovirus classified as a biosafety level four agent. The fusion (F) protein of Hendra virus is critical for promoting viral entry and cell-to-cell fusion. To be fusogenically active, Hendra virus F must undergo endocytic recycling and cleavage by the endosomal/lysosomal prot...
Which tissues express the ACE2 protein?
Abundant ACE2 immunostaining was found in lung, kidney, heart, and islets of pancreas, but not in hepatocytes
Severe acute respiratory syndrome (SARS) is an emerging infectious disease associated with a new coronavirus, SARS-CoV. Pulmonary involvement is the domit clinical feature but extra-pulmonary manifestations are also common. Factors that account for the wide spectrum of organ system involvement and disease severity ...
In which chromosome are transgenes inserted in the case of the LiPS-A3S line?
Transgenesis of human pluripotent stem cells (hPSCs) can enable and empower a variety of studies in stem cell research, including lineage tracing and functional genetics studies. While in recent years much progress has been made in the development of tools for gene targeting, little attention has been given to the iden...
What is a J pouch?
The j pouch is a colonic j-pouch with anastomosis to the rectal stump. It is an accepted form of reconstruction after low anterior resection (lar) for rectal carcinoma.
PURPOSE: This study compared outcomes after laparoscopic (LAP) or conventional (open) total proctocolectomy with outcomes after ileal J-pouch anal anastomosis (IPAA) at a single institution. METHODS: Charts from 133 familial adenomatous polyposis patients (1997-2013) were reviewed. Demographic data (age, sex, color,...
What is the function of the protein encoded by the gene NKCC2?
The protein function as an Na-K-Cl cotransporter.
AAV9 vector provides efficient gene transfer in all segments of the renal nephron, with minimum expression in non-renal cells, when administered retrogradely via the ureter. It is important to restrict the transgene expression to the desired cell type within the kidney, so that the physiological endpoints represent...
Is celecoxib effective for amyotrophic lateral sclerosis?
No. In a clinical trial, celecoxib did not have a beneficial effect on patients with amyotrophic lateral sclerosis.
OBJECTIVE: To determine whether chronic treatment with celecoxib, a cyclooxygenase-2 inhibitor that has been shown to be beneficial in preclinical testing, is safe and effective in amyotrophic lateral sclerosis (ALS). METHODS: A double-blind, placebo-controlled, clinical trial was conducted. Three hundred research s...
Is the protein MCL-1 anti-apoptotic?
Yes, MCL-1 is an anti-apoptotic protein.
Mantle cell lymphoma (MCL) is an aggressive and incurable maligt disease. Despite of general chemotherapy, relapse and mortality are common, highlighting the need for the development of novel targeted drugs or combination of therapeutic regimens. Recently, several drugs that target the B-cell receptor (BCR) signali...
Describe the mechanism of action of Trilaciclib.
Trilaciclib is cyclin-dependent kinase 4 and 6 (CDK4/6) inhibitor, which act by inhibiting progression from the G1 to S phases of the cell cycle.
Conventional cytotoxic chemotherapy is highly effective in certain cancers but causes dose-limiting damage to normal proliferating cells, especially hematopoietic stem and progenitor cells (HSPCs). Serial exposure to cytotoxics causes a long-term hematopoietic compromise ("exhaustion"), which limits the use of chem...
How is ZP-PTH delivered to patients?
ZP-PTH uses a transdermal drug-coated microneedle patch system.
Which disease is ZP-PTH used for?
ZP-PTH is used for the treatment of osteoporosis.
Which gene is mutated in the classic Bartter's syndrome?
Classic Bartter's syndrome has been demonstrated to result from defective chloride transport across the basolateral membrane in the distal nephron due to mutations in the chloride channel gene CLCNKB.
The term "Bartter's syndrome" comprises a set of autosomal recessively inherited renal tubular disorders characterized by hypokalemia, metabolic alkalosis, hyperreninism, and hyperaldosteronism but normal blood pressure. Additional clinical and biochemical features led to a classification into phenotypically differ...
What is the purpose of the Unique Connectivity of Uncharged Compounds (UC2) search tool?
The Unique Connectivity of Uncharged Compounds (UC2) search tool uses unique connectivity of uncharged compounds for metabolite annotation by database searching in mass spectrometry-based metabolomics.
SUMMARY: For metabolite annotation in metabolomics, variations in the registered states of compounds (charged molecules and multiple components, such as salts) and their redundancy among compound databases could be the cause of misannotations and hamper immediate recognition of the uniqueness of metabolites while s...
Name a selective NK3R agonist.
Senktide is a highly potent and selective NK3R agonist.
Women during perimenopausal period experience a range of symptoms, which interfere with physical, sexual, and social life. About 65-75% of symptoms connected with postmenopausal period are vasomotor symptoms (VMS), such as hot flushes and night sweats. Hot flushes are subjective sensation of heat associated with cu...
What is the target of the drug Olmesartan?
Olmesartan (OL) is the pharmacologically active metabolite of Olmesartan medoxomil (OM), an FDA-approved angiotensin II receptor antagonist for administrating cardiovascular diseases
Olmesartan (OL) is the pharmacologically active metabolite of Olmesartan medoxomil (OM), an FDA-approved angiotensin II receptor antagonist for administrating cardiovascular diseases. The drug has been found to have potential effects on diverse protein kinase signaling involved in the pathogenesis of atherosclerosi...
In which cells does TLR7 escape X-chromosome inactivation?
The tlr7 gene encodes by an x chromosome locus. Tlr7 is encoded by an x-chromosome inactivation in immune cells from women and klinefelter syndrome patients.
Toll-like receptor 7 (TLR7) is critical to the induction of antiviral immunity, but TLR7 dosage is also a key pathogenic factor in systemic lupus erythematosus (SLE), an autoimmune disease with strong female bias. SLE prevalence is also elevated in individuals with Klinefelter syndrome, who carry one or more supern...
Which tool has been developed for prediction of single-cell DNA methylation states using deep learning?
DeepCpG is a computational approach based on deep neural networks to predict methylation states in single cells. By evaluating DeepCpG on single-cell methylation data from five cell types generated using alternative sequencing protocols it turns out that DeepCpG yields substantially more accurate predictions than previ...
Recent technological advances have enabled DNA methylation to be assayed at single-cell resolution. However, current protocols are limited by incomplete CpG coverage and hence methods to predict missing methylation states are critical to enable genome-wide analyses. We report DeepCpG, a computational approach based ...
When was vaxchora first licensed by the FDA?
Vaxchora was licensed by the FDA on June 10 2016.
Effective and easy to administer cholera vaccines are in need more than ever, for at risk populations and travellers alike. In many parts of the world cholera is still endemic, causing outbreaks and constituting repeatedly serious public health problems. The oral live cholera vaccine CVD 103-HgR (Orochol, Mutachol),...
What is the active ingredient of Eligard?
The active ingredient of Eligard is leuprorelin acetate.
Which company produces Eligard?
Eligard is produced by Astellas Pharma GmbH.
Which type of distance is used in the R-package XenofilteR?
The R-package XenofilteR separates mouse from human sequence reads based on the edit-distance between a sequence read and reference genome.
BACKGROUND: Mouse xenografts from (patient-derived) tumors (PDX) or tumor cell lines are widely used as models to study various biological and preclinical aspects of cancer. However, analyses of their RNA and DNA profiles are challenging, because they comprise reads not only from the grafted human cancer but also f...
How many copies of TP53 does the elephant genome contain?
Here, we show that the elephant genome encodes 20 copies of the tumor suppressor gene TP53 and that the increase in TP53 copy number occurred coincident with the evolution of large body sizes, the evolution of extreme sensitivity to genotoxic stress, and a hyperactive TP53 signaling pathway in the elephant (Proboscid...
Which company originally developed the drug Afrezza?
The inhaled insulin Technosphere, also known as Afrezza is produced by the MannKind Corporation.
Given the important role of insulin in the treatment of diabetes mellitus and in light of common barriers to insulin use, new strategies for insulin delivery by routes other than intravenous and subcutaneous injection have been investigated since the discovery of insulin in the 1920s. Most companies researching and ...
Which tool exist for predicting drug synergy with deep learning?
Deep Learning has had an impact in many research areas by achieving new state-of-the-art model performance. DeepSynergy has been developed as a tool that uses chemical and genomic information as input information, a normalization strategy to account for input data heterogeneity, and conical layers to model drug synergi...
MOTIVATION: While drug combination therapies are a well-established concept in cancer treatment, identifying novel synergistic combinations is challenging due to the size of combinatorial space. However, computational approaches have emerged as a time- and cost-efficient way to prioritize combinations to test, base...
Is ozanezumab effective for amyotrophic lateral sclerosis?
No. Ozanezumab did not show efficacy compared with placebo in patients with amyotrophic lateral sclerosis. Therefore, Nogo-A does not seem to be an effective therapeutic target in ALS.
BACKGROUND: Neurite outgrowth inhibitor A (Nogo-A) is thought to have a role in the pathophysiology of amyotrophic lateral sclerosis (ALS). A monoclonal antibody against Nogo-A showed a positive effect in the SOD1G93A mouse model of ALS, and a humanised form of this antibody (ozanezumab) was well tolerated in a fir...
Is Dexmecamylamine effective for depression?
No. Antidepressant effect of Dexmecamylamine (TC-5214) was not observed in clinical trials.
TC-5214 (dexmecamylamine) is a nicotinic channel modulator that has previously been evaluated for treatment of major depression disorder (MDD) and is currently being evaluated by Targacept as a treatment for overactive bladder. A comprehensive population pharmacokinetic (POP PK) model of TC-5214 was developed using...
Which cloud-based platform has been developed for comparing GWAS?
EasyGWAS is a cloud-based platform for comparing the results of Genome-Wide Association Studies (GWAS).
The ever-growing availability of high-quality genotypes for a multitude of species has enabled researchers to explore the underlying genetic architecture of complex phenotypes at an unprecedented level of detail using genome-wide association studies (GWAS). The systematic comparison of results obtained from GWAS of...
Can CMB305 be used against sarcomas?
Yes, the CMB205 vaccine is aimed at synovial sarcoma and myxoid/round cell liposarcoma patients.
INTRODUCTION: Synovial Sarcoma (SS) and Myxoid Round Cell Liposarcoma (MRCL) are devastating sarcoma subtypes with few treatment options and poor outcomes in the advanced setting. However, both these diseases may be ideal for novel immunotherapies targeting the cancer-testis antigen, NY-ESO-1. AREAS COVERED: In this...
What is Quadracel?
Quadracel (diphtheria and tetanus toxoids and acellular pertussis adsorbed and inactivated poliovirus vaccine, Sanofi Pasteur Inc.) is a new vaccination developed to condense the last dose of both DTaP and IPV so they do not have to be given separately, thus reducing the total number of vaccinations required. In a rand...
INTRODUCTION: Vaccinations in school-aged children are required by state and local law to maintain high vaccination coverage rates, as well as low rates of vaccine-preventable diseases. Diphtheria, tetanus, and pertussis are childhood diseases that can be life threatening; poliomyelitis, another childhood disease, ...
What delivery system is used for the Fluzone Intradermal vaccine?
Fluzone was the first influenza vaccine licensed in the USA that uses a new microinjection system for intradermal delivery of vaccines (Soluvia(tm), Becton Dickinson).
Name two inhalable insulin products.
Despite discontinuation of the first inhalable insulin, Exubera(r), due to suboptimal market acceptance, development of orally inhaled insulin delivery systems has been galvanized by the recent approval of Afrezza(r).
INTRODUCTION: Delivery of therapeutic insulin via the pulmonary route has been the most investigated non-invasive alternative to the commonly used subcutaneous (SC) route for diabetes management. Despite discontinuation of the first inhalable insulin, Exubera®, due to suboptimal market acceptance, development of or...
How is the mouse Fxy gene evolving?
Here, we report that the rate of sequence divergence of the 3' end of the Fxy gene is much higher (estimated at 170-fold higher for synonymous sites) when pseudoautosomal (present on both the X and Y chromosomes) than when X-unique.
Genes evolve at different rates depending on the strength of selective pressure to maintain their function. Chromosomal position can also have an influence [1] [2]. The pseudoautosomal region (PAR) of mammalian sex chromosomes is a small region of sequence identity that is the site of an obligatory pairing and reco...
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.
The human Y chromosome is composed of two different parts: a pseudoautosomal region shared with the X chromosome which is responsible for sex chromosome pairing and a Y-specific part that encodes the sex determining gene. Previously we have shown that the pseudoautosomal gene MIC2 only rarely recombines between the...
Does teplizumab hold promise for diabetes prevention?
Yes, teplizumab is promising for diabetes prevention.
IMPORTANCE OF THE FIELD: Type 1 diabetes mellitus (T1D) is a T-cell mediated autoimmune disease with selective destruction of beta cells. Immunological interventions are directed at arresting the loss of beta-cell function with the promise that this will make it easier for patients to control their glucose levels. ...
What is another name for acid sphingomyelinase deficiency (ASMD)?
Acid sphingomyelinase deficiency(ASMD) is also known as Niemann-Pick disease type A and type B.
Niemann-Pick disease (types A and B), or acid sphingomyelinase deficiency, is an inherited deficiency of acid sphingomyelinase, resulting in intralysosomal accumulation of sphingomyelin in cells throughout the body, particularly within those of the reticuloendothelial system. These cellular changes result in hepato...
What rare disease is associated with a mutation in the GPC6 gene on chromosome 13?
The proband had normal molecular analysis of the glypican 6 gene (GPC6), which was recently reported as a candidate for autosomal recessive omodysplasia
Glypicans are a family of glycosylphosphatidylinositol (GPI)-anchored, membrane-bound heparan sulfate (HS) proteoglycans. Their biological roles are only partly understood, although it is assumed that they modulate the activity of HS-binding growth factors. The involvement of glypicans in developmental morphogenesi...
What are 3 symptoms of Waardenburg Syndrome?
Waardenburg syndrome is a rare genetic disorder of neural crest cells (NCC) characterized by congenital sensorineural hearing loss, dystopia canthorum, and abnormal iris pigmentation.
Author information: (1)Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central south University, Changsha 410008, People's Republic of China; Key Laboratory of Otolaryngology Major Disease Research of Hu Province, Changsha, 410008, People's Republic of China. (2)State Key Laboratory of Medical ...
Does ProSavin use an adenoviral vector?
No, ProSavin is a lentiviral vector based gene therapy.
Parkinson's disease is typically treated with oral dopamine replacement therapies. However, long-term use is complicated by motor fluctuations from intermittent stimulation of dopamine receptors and off-target effects. ProSavin, a lentiviral vector based gene therapy that delivers local and continuous dopamine, was...
Does radiation for tinea capitis increases brain tumor risk?
Yes, radiation therapy for tinea capitis is associated with increased risk of meningiomas and gliomas.
Three patients are described in whom irradiation of 2750 rad or more was used in the management of primary brain tumours, and 21 years or more later a second brain tumour of a different type occurred. One of the new tumours was a meningioma and the other two were cerebral astrocytomas. There is evidence to show tha...
What gene is mutated in Huntington's Disease patients?
Huntington's disease (HD) is a fully penetrant neurodegenerative disease caused by a dominantly inherited CAG trinucleotide repeat expansion in the huntingtin gene HTT encoding the Huntingtin protein on chromosome 4.
Huntington's disease is an inherited disorder caused by expansion of a CAG trinucleotide repeat in the IT15 gene, which leads to expansion of a polyglutamine tract within the protein called huntingtin. Despite the characterization of the IT15 gene and the mutation involved in the disease, the normal function of hun...
List types of cancer where Long intergenic nonprotein coding RNA p53-induced transcript (LINC-PINT) is involved
Long intergenic nonprotein coding RNA p53-induced transcript (LINC-PINT) is involved in the development of pancreatic cancer, glioblastoma and breast cancer.
Long intergenic non-protein coding RNA, p53 induced transcript (Linc-pint) is a long noncoding RNA (lncRNA) that regulates tumor cell viability and proliferation. We used qRT-PCR and RNA FISH analysis to evaluate Linc-pint levels in the plasma and tumor tissues of pancreatic cancer (PCa) patients. Our data demonstr...
Is pimavanserin a typical antipsychotic?
No, pimavanserin is an atypical antipsychotic.
Pimavanserin is the first FDA-approved atypical antipsychotic drug indicated for the treatment of hallucinations and delusions associated with Parkinson's disease psychosis (PDP). Areas covered: This review focuses on the preclinical discovery of pimavanserin. It analyzes the pharmacological, behavioral and molecul...
Can Flotillin be used as exosomal marker?
Yes, Flotillin 1 is a known exosomal marker protein.
BACKGROUND: Exosomes are released from multiple cell types, contain protein and RNA species, and have been exploited as a novel reservoir for disease biomarker discovery. They can transfer information between cells and may cause pathology, for example, a role for exosomes has been proposed in the pathophysiology of ...
How many genes belong to the KRAB-ZNF family in the human genome?
The KRAB-ZNF family is a multisubunit protein family comprised of 70 co-regulated genes, denoted KLR1-ZNF15, that is represented by multigene families in the human genome.
The Krüppel-associated box-containing zinc finger gene family (KRAB-ZNF) is one of the largest gene families of transcriptional factors in the human genome. Although the functions of most of these genes remain to be determined, it is known that KRAB-mediated transcriptional repression requires a direct interaction ...
Which molecule is targeted by Asciminib?
Asciminib is an orally administered allosteric inhibitor of the BCR-ABL tyrosine kinase.
Chronic myeloid leukaemia (CML) is driven by the activity of the BCR-ABL1 fusion oncoprotein. ABL1 kinase inhibitors have improved the clinical outcomes for patients with CML, with over 80% of patients treated with imatinib surviving for more than 10 years. Second-generation ABL1 kinase inhibitors induce more potent...
Please list 2 human diseases caused by a coronavirus.
Middle East respiratory syndrome (MERS) and SARS are diseases caused by a coronavirus.
First identified in 2012, Middle East respiratory syndrome (MERS) is caused by an emerging human coronavirus, which is distinct from the severe acute respiratory syndrome coronavirus (SARS-CoV), and represents a novel member of the lineage C betacoronoviruses. Since its identification, MERS coronavirus (MERS-CoV) h...
What is characteristic to Fitz-Hugh–Curtis syndrome?
Fitz-Hugh-Curtis syndrome is a rare complication of pelvic inflammatory disease that involves liver capsule inflammation associated with genital tract infection, which is usually caused by Neisseria gonorrhoea and Chlamydia trachomatis.
The Fitz-Hugh--Curtis syndrome is an extragenital manifestation of gonorrhea, characterized by fibrinous inflammation of the subphrenic area with violinstring-like adhesions between the liver surface and the parietal peritoneum. When such patients present with acute upper right quadrant pain, the differential diagn...
What is the trade name of sildenafil?
The trade name of sildenafil is Viagra.
BACKGROUND: Chronic drug abuse and sexual dysfunction specifically erectile dysfunction may lead drug abusers to seek over-the-counter or non-prescription medications, out of which Sildenafil citrate, sold as the trade name of Viagra® can be considered as a prime and important treatment. Therefore, the research pur...
How large is the SARS-CoV proteome?
The severe acute respiratory syndrome coronavirus (SARS-CoV) genome is predicted to encode 14 functional open reading frames, leading to the expression of up to 30 structural and non-structural protein products.
The proteomes of the severe acute respiratory syndrome-associated coronavirus (SARS-CoV) and its infected Vero E6 cells were detected in the present study. The cytosol and nucleus fractions of virus-infected cells as well as the crude virions were analyzed either by one-dimensional electrophoresis followed by ESI-M...
Is Apremilast effective for Behçet’s Syndrome?
Yes, Apremilast is effective for Behcet's Syndrome
BACKGROUND: Oral ulcers, the hallmark of Behçet's syndrome, can be resistant to conventional treatment; therefore, alternative agents are needed. Apremilast is an oral phosphodiesterase-4 inhibitor that modulates several inflammatory pathways. METHODS: We conducted a phase 2, multicenter, placebo-controlled study in...
Is Rad4/XPC a DNA damage sensing protein?
Yes, DNA damage recognition is achieved by the Rad4/XPC nucleotide excision repair complex.
Mutations in the nucleotide excision repair (NER) pathway can cause the xeroderma pigmentosum skin cancer predisposition syndrome. NER lesions are limited to one DNA strand, but otherwise they are chemically and structurally diverse, being caused by a wide variety of genotoxic chemicals and ultraviolet radiation. T...
List symptoms of the Hakim Triad?
Triad of Hakim is well known for normal pressure hydrocephalus (NPH) and includes dementia, gait disturbances and urinary incontinence.
Three patients with normal pressure hydrocephalus and Parkinson's disease are reported. The recognition of this association is important because these two entities require specific therapeutic approaches. The presence of Parkinson's disease does not preclude an excellent response of the hydrocephalus to a shunting ...
Is the protein ABCG2 transmembrane?
Yes, the protein ABCG2 is transmembrane.
An overexpression of the transmembrane ATP-binding cassette transporter G2 (ABCG2, BCRP) in cancer tissues is supposed to play a role in the multidrug resistance (MDR) of tumors resulting in an inefficient chemotherapy. Therefore, co-administration of selective and non-toxic ABCG2 inhibitors is a promising strategy...
Can radiotherapy cause radiation induced osteosarcoma?
Yes, Radiation-induced osteosarcomas are a recognized complication of radiation therapy.
The case of a patient with postirradiation osteosarcoma is presented. The 20-year-old female was diagnosed as having osteosarcoma by histological examination of an open biopsy specimen. She underwent surgery for pure dysgerminoma and received adjuvant postoperative radiotherapy, 40 Gy to the pelvis and 30 Gy to the...
What are manifestations of the Saint's Triad?
Saint's Triad includes hiatus hernia, gallstones, and diverticulosis coli.
A quarter of a century ago Professor C. F. M. Saint of the University of Cape Town noted the occasional association of diverticular disease, hiatus hernia, and gallstones in a patient. The occurrences of these diseases, and the significance of their associations, are discussed. The suggestion is made that the disea...
What is the mechanism of action of Erdafitinib?
Erdafitinib is an oral selective pan-fibroblast growth factor receptor (FGFR) tyrosine kinase inhibitor.
Fibroblast growth factor (FGF) signaling plays critical roles in key biological processes ranging from embryogenesis to wound healing and has strong links to several hallmarks of cancer. Genetic alterations in FGF receptor (FGFR) family members are associated with increased tumor growth, metastasis, angiogenesis, a...
Are male or female persons more prone to autoimmunity?
Sex hormones have long been implicated in autoimmune diseases because women account for 80% of cases.
BACKGROUND: The sexually dimorphic prevalence of autoimmune disease remains one of the most intriguing clinical observations among this group of disorders. While sex hormones have long been recognized for their roles in reproductive functions, within the past 2 decades scientists have found that sex hormones are in...
Which is the phenotype of the disease fibrodysplasia ossificans progressiva?
Fibrodysplasia ossificans progressiva (FOP), a congenital heterotopic ossification (HO) syndrome caused by gain-of-function mutations of bone morphogenetic protein (BMP) type I receptor ACVR1, manifests with progressive ossification of skeletal muscles, tendons, ligaments, and joints.
OBJECTIVE: Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder in which heterotopic bone forms in the soft tissues. This often occurs in response to injury or inflammation, leading to joint immobilization and significant disability. There are currently no definitive treatment options for t...
Are lamina-associated domains (LADs) associated with transcriptional activation?
Regions of focal DNA hypermethylation and long-range hypomethylation in colorectal cancer coincide with nuclear lamina-associated domains. Such lamina-associated domains (LADs) are thought to help organize chromosomes inside the nucleus and have been associated with gene repression.
Author information: (1)Division of Gene Regulation, Netherlands Cancer Institute, 1066 CX Amsterdam, the Netherlands; Department of Cell Biology, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands. Electronic address: b.v.steensel@nki.nl. (2)Department of Cell and Developmental Biology, University ...
Is Hemochromatosis type 4 is caused by a mutation in a recessive gene?
No, Hemochromatosis type 4 is caused by an autosomal dominant gene
Hemochromatosis type 4 is a rare form of primary iron overload transmitted as an autosomal domit trait caused by mutations in the gene encoding the iron transport protein ferroportin 1 (SLC40A1). SLC40A1 mutations fall into two functional categories (loss- versus gain-of-function) underlying two distinct clinical e...
What is the purpose of the LINCS Project?
The Library of Integrated Network-Based Cellular Signatures (LINCS) project aims to create a network-based understanding of biology by cataloging changes in gene expression and signal transduction that occur when cells are exposed to a variety of perturbations.
The National Institutes of Health Library of Integrated Network-based Cellular Signatures (LINCS) program is generating extensive multidimensional data sets, including biochemical, genome-wide transcriptional, and phenotypic cellular response signatures to a variety of small-molecule and genetic perturbations with ...
Can Patient-derived organoids (PDOs) recapitulate patient responses in the clinic?
Yes. Phenotypic and genotypic profiling of PDOs showed a high degree of similarity to the original patient tumors. Molecular profiling of tumor organoids was matched to drug-screening results, suggesting that PDOs could complement existing approaches in defining cancer vulnerabilities and improving treatment responses....
Pancreatic ductal adenocarcinoma (PDAC) has the worst prognosis among solid maligcies and improved therapeutic strategies are needed to improve outcomes. Patient-derived xenografts (PDX) and patient-derived organoids (PDO) serve as promising tools to identify new drugs with therapeutic potential in PDAC. For these ...
What is Fuchs' Uveitis?
Fuchs' Uveitis (FU) is a chronic, low-grade-inflammatory disorder, involving anterior uvea and vitreous. Fuchs uveitis (FU) is a frequent, chronic course of intraocular inflammation, which is associated with a gradual onset of decreased visual acuity.
Fuchs uveitis syndrome (FUS) is typically a unilateral, chronic, low-grade inflammation of the anterior segment which manifests in young adulthood. It is underdiagnosed because of its variable clinical spectrum. Although it can mimic various forms of anterior uveitis, it is important to make the correct diagnosis, ...
Is overexpression of LY6K associated with better prognosis for non-small cell lung cancer patients?
No, LY6K overexpression is associated with poor prognosis for patients with NSCLC.
Gene expression profile analyses of non-small cell lung carcinomas (NSCLC) and esophageal squamous cell carcinomas (ESCC) revealed that lymphocyte antigen 6 complex locus K (LY6K) was specifically expressed in testis and transactivated in a majority of NSCLCs and ESCCs. Immunohistochemical staining using 406 NSCLC ...
Are the members of the KRAB-ZNF gene family promoting gene repression?
The stem cell zinc finger 1 (SZF1)/ZNF589 protein belongs to the large family of Kruppel-associated box domain-zinc finger (KRAB-ZNF) transcription factors, which are present only in higher vertebrates and epigenetically repress transcription by recruiting chromatin-modifying complexes to the promoter regions of their ...
The stem cell zinc finger 1 (SZF1)/ZNF589 protein belongs to the large family of Krüppel-associated box domain-zinc finger (KRAB-ZNF) transcription factors, which are present only in higher vertebrates and epigenetically repress transcription by recruiting chromatin-modifying complexes to the promoter regions of th...
What does the boxed warning of pimavanserin say?
Pimavanserin bears a boxed warning about the risk of death associated with antipsychotic use in elderly patients with dementia.
OBJECTIVE: To summarize the US Food and Drug Administration's (FDA's) review of the safety and effectiveness for pimavanserin, an atypical antipsychotic, for the treatment of hallucinations and delusions associated with Parkinson's disease psychosis. We describe the regulatory and clinical issues important to the F...
List Cdk targets that are dephosphorylated during cytokinesis
Aip1, Ede1 and Inn1 are Cdk targets that are dephosphorylated during cytokinesis.
The final event of the eukaryotic cell cycle is cytokinesis, when two new daughter cells are born. How the timing and execution of cytokinesis is controlled is poorly understood. Here, we show that downregulation of cyclin-dependent kinase (Cdk) activity, together with upregulation of its counteracting phosphatase ...
What is dystopia canthorum?
Dystopia canthorum is defined as a prominent broad nasal root with increased intercanthal distance.
Waardenburg's syndrome consists of lateral displacement of the inner canthi of the eyes (dystopia canthorum), a broad nasal root and confluent eyebrows, heterochromia iridum, a white forelock and congenital deafness. The syndrome is inherited as a domit, but affected individuals do not necessarily have all of the c...
Is the protein ABCG2 (ATP-Binding Cassette, subfamily G, member 2, transporter) excreting uric acid?
Yes, ABCG2 plays a central role on extra-renal uric acid excretion
INTRODUCTION: Hyperuricemia (chronically elevated serum uric acid) is the main pathology underlying the development of gout, the most common inflammatory arthropathy. Management of these conditions therefore relies on controlling serum uric acid levels. ATP-binding cassette transporter, sub-family G, member 2 (ABCG...
What is Heterochromia Iridis?
Heterochromia Iridis is a condition where the affected person has differences in the color of the iris.
BACKGROUND: Heterochromia iridis, asymmetry of iris pigmentation, has been well described with congenital Horner syndrome. Acquired heterochromia associated with lesions in the ocular sympathetic pathways in adulthood, however, is rare. METHODS: Two cases are reported in which sympathectomy in adults resulted in ips...
How is transcriptional elongation affected by nucleosome positioning?
In order to elongate their products, both DNA and RNA polymerases must be able to overcome the inhibition presented by chromatin. Nucleosome arrays inhibit both initiation and elongation of transcripts.
We have examined the effects of nucleosome cores on the initiation and elongation of RNA transcripts by phage T7 RNA polymerase in vitro. A transcription template, pT207-18, was constructed containing tandemly repeated 207 base-pair (bp) nucleosome positioning sequences from a sea urchin (Lytechinus variegatus) 5 S...
How many annotated conserved human lncRNAs come from ancestral protein-coding genes?
~ 55
BACKGROUND: Only a small portion of human long non-coding RNAs (lncRNAs) appear to be conserved outside of mammals, but the events underlying the birth of new lncRNAs in mammals remain largely unknown. One potential source is remts of protein-coding genes that transitioned into lncRNAs. RESULTS: We systematically co...
Is modified vaccinia Ankara effective for smallpox?
Yes, modified vaccinia Ankara is effective for smallpox.
Despite the declaration of smallpox eradication in 1980, the existence of variola stockpiles and the threat of bioterrorism demand that immunity to smallpox through vaccination be maintained. Although the currently available vaccine was used for the most successful medical intervention ever accomplished, it also is...
Does nintedanib hold promise for lung disease associated with systemic sclerosis?
Yes, nintedanib holds promise for lung disease associated with systemic sclerosis. It is being tested in a clinical trial.
INTRODUCTION: Novel compounds targeting various aspects of fibrogenesis have been developed consequent to the increasing knowledge of the pathogenetic mechanisms of the interstitial lung diseases (ILDs). The authors review the evolution of treatment approaches in the ILDs, informed by recent placebo-controlled tria...
What is the LINCS Program?
The Library of Integrated Network-based Cellular Signatures (LINCS) is an NIH Common Fund program that catalogs how human cells globally respond to chemical, genetic, and disease perturbations.
The National Institutes of Health Library of Integrated Network-based Cellular Signatures (LINCS) program is generating extensive multidimensional data sets, including biochemical, genome-wide transcriptional, and phenotypic cellular response signatures to a variety of small-molecule and genetic perturbations with ...
Is PF-05190457 an inverse agonist of the ghrelin receptor?
Yes, PF-05190457 is an inverse agonist of the ghrelin receptor.
Is Ubrogepant effective for migraine?
Yes, Ubrogepant is effective for treatment of migraine.
AIM: The aim of this trial was to evaluate the efficacy and tolerability of ubrogepant (MK-1602), a calcitonin gene-related peptide receptor antagonist (CGRP-RA), for the acute treatment of migraine. METHODS: This double-blind, placebo-controlled study randomized 834 participants to treat one migraine attack with ub...
Is Selinexor effective for multiple myeloma?
Yes, Selinexor is effective for multiple myeloma.
This review discusses the landmark studies in the field of multiple myeloma (MM) which were presented at American society of hematology annual meeting, 2016. There were contrary results from two large phase III trials (one from US and one from Europe) that evaluated the role of additional interventions like tandem ...
What is the protein product of the gene GBA2?
The GBA2 gene encodes the non-lysosomal glucosylceramidase (NLGase), an enzyme that catalyzes the conversion of glucosylceramide (GlcCer) to ceramide and glucose.
The non-lysosomal glucosylceramidase GBA2 catalyzes the hydrolysis of glucosylceramide to glucose and ceramide. Loss of GBA2 function results in accumulation of glucosylceramide. Mutations in the human GBA2 gene have been associated with hereditary spastic paraplegia (HSP) and autosomal-recessive cerebellar ataxia ...
Are there lncRNAs that control the extent of neuronal outgrowth?
Yes. there are lncRNAs which regulate the extent of neuronal outgrowth.
Can the radiation of cellphones be dangerous?
two sets of more recent studies with longer exposure duration: the Interphone studies and the Swedish studies led by Dr. Lennart Hardell. The recent studies reach very different conclusions. With four exceptions the industry-funded Interphone studies found no increased risk of brain tumors from cellphone use, while the...
This paper reviews the results of early cellphone studies, where exposure duration was too short to expect tumorigenesis, as well as two sets of more recent studies with longer exposure duration: the Interphone studies and the Swedish studies led by Dr. Lennart Hardell. The recent studies reach very different concl...
Does metformin has as an antitumor effect?
Yes, The anti-tumor effect of metformin is widely known.
Metformin is a standard clinical drug used to treat type 2 diabetes mellitus (T2DM) and polycystic ovary syndrome. Recently, epidemiological studies and meta-analyses have revealed that patients with T2DM have a lower incidence of tumor development than healthy controls and that patients diagnosed with cancer have ...
Can radiation induced meningiomas be treated with radiosurgery?
Yes, radiation induced meningiomas be treated with radiosurgery. Radiosurgery provides satisfactory control of radiation induced meningiomas.
OBJECTIVE Multiple meningiomas account for 1%-10% of meningiomas. This study describes epidemiological aspects of the disease and its management, which is more challenging than for single tumors. METHODS A consecutive series of adult patients with ≥ 2 spatially separated meningiomas was reviewed. Patients with neur...
What is known about ROS production in relation to UVR?
Skin exposure to ultraviolet radiation (UVR) may induce the production of reactive oxygen species (ROS) which cause oxidative stress, DNA damage, and alteration of fibroblasts and collagen responsible for skin photoaging.
Ultraviolet radiation (UVR) exposure causes various injurious effects to human skin by generating reactive oxygen species (ROS). Excessive ROS production can lead to oxidative stress which may damage cellular components like lipids and proteins and causing photoaging. The use of natural photochemopreventive agents ...
Which drugs used in the treatment of Systemic Lupus Erythematosus are targeting granulocytes?
Epratuzumab, a humanized monoclonal antibody against disialoganglioside, is the only officially approved treatment for the treatment of Systemic Lupus Erythematosus.Food and Drug Administration approval of SLE treatment with rituximab; however, more research is required before a large-scale application for clinical dec...
This study demonstrates that extramedullary hematopoiesis occurs in livers of adult lpr mice and, after treatment with each of three xenobiotic compounds--phenobarbital, cyproterone acetate, and nafenopin--it includes granulopoiesis. lpr mice are used as a model of the human disease systemic lupus erythematosus (SL...
What is PWMScan?
Transcription factors regulate gene expression by binding to specific short DNA sequences of 5-20 bp to regulate the rate of transcription of genetic information from DNA to messenger RNA. PWMScan is a fast web-based tool to scan server-resident genomes for matches to a user-supplied PWM or transcription factor binding...
SUMMARY: Transcription factors regulate gene expression by binding to specific short DNA sequences of 5-20 bp to regulate the rate of transcription of genetic information from DNA to messenger RNA. We present PWMScan, a fast web-based tool to scan server-resident genomes for matches to a user-supplied PWM or transc...
Is there a BRCA mutation analysis in the Greek population?
Yes. Molecular analysis of the BRCA1 and BRCA2 genes in 898 Greek families was performed using Sanger sequencing or Next Generation Sequencing for the detection of small insertion/deletion frameshift, nonsynonymous, truncating and splice-site alterations and MLPA for the detection of large genomic rearrangements. In to...
Germline mutations in the BRCA1 and BRCA2 genes are associated with hereditary predisposition to breast and ovarian cancer. Sensitive and accurate detection of BRCA1 and BRCA2 mutations is crucial for personalized clinical management of individuals affected by breast or ovarian cancer, and for the identification of ...
What is the basis of the DamID experimental protocol?
Dam Identification (DamID) system induced by Cre recombinase using Lamin B1 and mouse embryonic fibroblasts. This inducible system will help to generate genome-wide profiles of chromatin proteins in given cell types and tissues with no need to dissect tissues from organs or separate cells from tissues, which is achiev...
A large variety of proteins bind to specific parts of the genome to regulate gene expression, DNA replication, and chromatin structure. DamID is a powerful method used to map the genomic interaction sites of these proteins in vivo. It is based on fusing a protein of interest to Escherichia coli DNA adenine methyltr...
What is the function of the Spt6 gene in yeast?
Spt6 is a highly conserved histone chaperone that interacts directly with both RNA polymerase II and histones to regulate gene expression. Spt6 is a highly conserved factor required for normal transcription and chromatin structure. Binding of elongation factor Spt6 to Iws1 provides an effective means for coupling eukar...
The SPT4, SPT5 and SPT6 genes of Saccharomyces cerevisiae were identified originally by mutations that suppress delta insertion mutations at HIS4 and LYS2. Subsequent analysis has demonstrated that spt4, spt5 and spt6 mutations confer similar pleiotropic phenotypes. They suppress delta insertion mutations by alteri...
What has pimavanserin been approved for by the FDA (2018)?
Pimavanserin was approved for the treatment of hallucinations and delusions associated with Parkinson's disease psychosis.
OBJECTIVE: To summarize the US Food and Drug Administration's (FDA's) review of the safety and effectiveness for pimavanserin, an atypical antipsychotic, for the treatment of hallucinations and delusions associated with Parkinson's disease psychosis. We describe the regulatory and clinical issues important to the F...
List the members of a network of noncoding regulatory RNAs that play a role in the mammalian brain
In mice, the long ncRNA Cyrano uses an extensively paired site to miR-7 to trigger destruction of this microRNA. Cyrano-directed miR-7 degradation is much more effective than previously described examples of target-directed microRNA degradation, which come primarily from studies of artificial and viral RNAs. By reducin...
Noncoding RNAs (ncRNAs) play increasingly appreciated gene-regulatory roles. Here, we describe a regulatory network centered on four ncRNAs-a long ncRNA, a circular RNA, and two microRNAs-using gene editing in mice to probe the molecular consequences of disrupting key components of this network. The long ncRNA Cyra...
Has ProSavin undergone phase IV clinical trials by 2018?
No, ProSavin has undergone a dose escalation, open-label, phase 1/2 trial.
BACKGROUND: Parkinson's disease is typically treated with oral dopamine replacement therapies; however, long-term treatment leads to motor complications and, occasionally, impulse control disorders caused by intermittent stimulation of dopamine receptors and off-target effects, respectively. We aimed to assess the ...
List approved radioprotective compounds
Only two radioprotective compounds, amifostine and palifermin, currently have the US FDA approval for use in radiation therapy.