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Has "RNA interference" been awarded Nobel prize?
Since the first unequivocal description of RNA interference (RNAi) in 1998, it has remained one of the hottest topics under investigation, culminating in the award of a Nobel Prize to its discoverers in 2006.
Since the first unequivocal description of RNA interference (RNAi) in 1998, it has remained one of the hottest topics under investigation, culminating in the award of a Nobel Prize to its discoverers in 2006. Excitement over this technique derives from the ease with which it can be used to switch-off a specific gen...
Is there any role for Pds5b in cohesion establishment?
Yes. Pds5 proteins are essential for cohesion establishment by allowing Smc3 acetylation by the cohesin acetyl transferases (CoATs) Esco1/2 and binding of Sororin.
Cohesin mediates sister chromatid cohesion and contributes to the organization of interphase chromatin through DNA looping. In vertebrate somatic cells, cohesin consists of Smc1, Smc3, Rad21, and either SA1 or SA2. Three additional factors Pds5, Wapl, and Sororin bind to cohesin and modulate its dynamic association...
Which factors are considered in the FUNC score for intracerebral hemorrhage?
FUNC score includes Age, Glasgow Coma Scale, ICH location, volume and pre-ICH cognitive impairment.
BACKGROUND AND PURPOSE: Intracerebral hemorrhage (ICH) is the most fatal and disabling stroke subtype. Widely used tools for prediction of mortality are fundamentally limited in that they do not account for effects of withdrawal of care and are not designed to predict functional recovery. We developed an acute clin...
Where is the respirasome located?
Respirasomes are macromolecular assemblies of the respiratory chain complexes I, III and IV in the inner mitochondrial membrane. The 4.0 Å cryo-EM structure of one of the most intricate enzyme systems, the respirasome, in the mitochondrial inner membrane is now available.
Respirasomes are macromolecular assemblies of the respiratory chain complexes I, III and IV in the inner mitochondrial membrane. We determined the structure of supercomplex I1III2IV1 from bovine heart mitochondria by cryo-EM at 9 Å resolution. Most protein-protein contacts between complex I, III and IV in the membr...
Describe the usefulness of MiRduplexSVM.
MiRduplexSVM is a high-performing miRNA-duplex prediction and evaluation methodology. It's a method that combines a unique problem representation and an unbiased optimization protocol to learn from mirBase19.0 an accurate predictive model. It is the first model that provides precise information about all four ends of t...
We address the problem of predicting the position of a miRNA duplex on a microRNA hairpin via the development and application of a novel SVM-based methodology. Our method combines a unique problem representation and an unbiased optimization protocol to learn from mirBase19.0 an accurate predictive model, termed MiR...
What genes are drug targets for Fibrodysplasia Ossificans Progressiva (FOP)?
Recently, FOP has been associated with a specific mutation of ACVR1, the gene coding for a bone morphogenetic protein type I receptor.
Fibrodysplasia ossificans progressiva (FOP) is an extremely rare and disabling genetic disorder characterized by congenital malformation of the great toes and by progressive heterotopic endochondral ossification in predictable anatomical patterns. Although elevated levels of bone morphogenetic protein 4 (BMP4) occur...
What kind of analyses are performed with the software tool "unipept"
The Unipept web application (http://unipept.ugent.be) supports biodiversity analysis of large and complex metaproteome samples using tryptic peptide information obtained from shotgun MS/MS experiments. The application designed for metaproteomics analysis with a focus on interactive datavisualization.
The Unipept web application (http://unipept.ugent.be) supports biodiversity analysis of large and complex metaproteome samples using tryptic peptide information obtained from shotgun MS/MS experiments. Its underlying index structure is designed to quickly retrieve all occurrences of a tryptic peptide in UniProtKB r...
What is the role of gamma-secreatase complex in Alzheimer's Disease?
The gamma-secretase complex has a decisive role in the development of Alzheimer's disease, as it cleaves a precursor protein to create the amyloid beta peptide whose aggregates form the senile plaques encountered in the brains of patients. Gamma-secretase is a member of the intramembrane-cleaving proteases which proces...
Gamma-secretase catalyzes the proteolytic processing of a number of integral membrane proteins, including amyloid precursor protein (APP) and Notch. The native gamma-secretase is a heterogeneous population of large membrane protein complexes containing presenilin 1 (PS1) or presenilin 2 (PS2), aph-1a or aph-1b, nic...
Which syndromes are associated with heterochromia iridum?
The syndromes that are associated with heterochromia iridum are: 1) Ascher's syndrome 2) Waardenburg Syndrome type II (WS2) 3) Horner's syndrome.
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...
What is the target of tanezumab?
Tanezumab is a humanized monoclonal antibody against nerve growth factor.
We describe the use of four complementary biosensors (Biacore 3000, Octet QK, ProteOn XPR36, and KinExA 3000) in characterizing the kinetics of human nerve growth factor (NGF) binding to a humanized NGF-neutralizing monoclonal antibody (tanezumab, formerly known as RN624). Tanezumab is a clinical candidate as a the...
Could plasmepsins be used as targets for developing anti-malaria drugs?
Yes, plasmepsins, which are essential Plasmodium proteases, could be highly promising anti-malarial drug targets.
Plasmodium falciparum is the major causative agent of malaria, a disease of worldwide importance. Resistance to current drugs such as chloroquine and mefloquine is spreading at an alarming rate, and our antimalarial armamentarium is almost depleted. The malarial parasite encodes two homologous aspartic proteases, p...
What is MRSA?
community-associated methicillin resistant staphylococcus aureus (ca-mrsa) has become a severe health concern because of its treatment difficulties.
We investigated the distribution of MRSA (methicillin-resistant Staphylococcus aureus) on and around six patients with MRSA infection in our neurosurgical ward. All patients had a disturbance of consciousness and had sputum colonization of MRSA. Samples were obtained from 11 sites (patients' hands, attendances' han...
List peptide fragmentations methods in mass spectrometry
CID, HCD, ECD, ETD and PSD are different peptide fragmentation technologies used in mass spectrometry.
The use of liquid chromatography-electrospray ionization-tandem mass spectrometry (LC-ESI-MS(n)) for the glycoproteomic characterization of glycopeptides is a growing field of research. The N- and O-glycosylated peptides (N- and O-glycopeptides) analyzed typically originate from protease-digested glycoproteins wher...
Is avanafil indicated for treatment of erectile dysfunction?
Yes, avanafil is indicated for treatment of erectile dysfunction.
Study Type--Therapy (RCT) Level of Evidence 1b. What's known on the subject? and What does the study add? Avanafil is a potent selective phosphodiesterase type 5 (PDE5) inhibitor newly developed for treating erectile dysfunction (ED). Preclinical and clinical phase I studies showed that avanafil had enhanced select...
What is "Epitranscriptome analysis"?
Modified nucleotides in messenger RNA (mRNA) have been discovered over 40 years ago, but until recently little was known about which transcripts contain them and what their function is. High-throughput sequencing approaches revealed a dynamic landscape of the 'Epitranscriptome' for many mRNA modifications in various or...
Biochemical modifications to mRNA, especially N6-methyladenosine (m6A) and 5-methylcytosine (m5C), have been recently shown to be associated with crucial biological functions. Despite the intriguing advancements, little is known so far about the dynamic landscape of RNA methylome across different cell types and how...
Which infection can be prevented with Dapivirine?
Vaginal ring containing Dapivirine is used for HIV prevention in women.
The nonnucleoside reverse transcriptase inhibitors UC-781 and TMC120-R147681 (Dapivirine) effectively prevented human immunodeficiency virus (HIV) infection in cocultures of monocyte-derived dendritic cells and T cells, representing primary targets in sexual transmission. Both drugs had a favorable therapeutic inde...
What is Bexsero?
Bexsero is a 4-component vaccine against capsular Meningococcus serogroup B (4CMenB), which has recently been licensed in Europe, Canada and Australia.
Serogroup B meningococcal (MenB) disease remains a serious public health problem for which a cross-protective vaccine effective against a wide range of MenB isolates has not been available. Novartis Vaccines has developed a vaccine for the prevention of MenB disease that contains four antigenic components: factor H ...
Is there a role for gamma knife in treatment of Obsessive-Compulsive Disorder?
Yes. Gamma knife radiosurgery is being increasingly to treat refractory obsessive- compulsive disorder (OCD). It is reserved for severe, treatment-refractory disease that has not responded to multiple treatments.
Normal brain tissue is probably the most important tissue compartment in the brain involved in adverse radiation effects (AREs). The capabilities of computerized tomography, magnetic resoce imaging, and positron emission tomography in repeat examinations of a treatment outcome provide a baseline by which to monitor...
What is the mechanism of action of the biguanide class of diabetes drugs?
this biguanide is an oral insulin-sensitizing agent capable of increasing insulin sensitivity and decreasing plasma fasting insulin levels.
Since impaired glucose tolerance (IGT) is a major risk factor for non-insulin-dependent diabetes mellitus (NIDDM), some kinds of intervention aiming to prevent or to delay the onset of NIDDM in subjects with IGT might be considered. Besides life style modification, drug therapy which could correct insulin deficienc...
Where is the proteasome located?
The proteasome can be found in perinuclear and nuclear location, as well as in cytosolic compartments, such as mitochondria and endoplasmic reticulum. Proteasome-mediated degradation of cell cycle regulatory proteins, production and loading of antigenic peptides onto HLA molecules, and transient homing of diverse virio...
N-acetyl-L-leucyl-L-leucyl-L-norleucinal (LLnL), which reversibly inhibits the proteasome in addition to other proteases, and a more specific irreversible inhibitor of the proteasome, lactacystin, were found to cause the accumulation of major histocompatibility complex (MHC) class I heavy chains in the cytosol of t...
What is clinical presentation of the Gardner-Diamond syndrome?
Psychogenic purpura, also known as Gardner-Diamond syndrome, is a rare, distinctive, localized cutaneous reaction pattern mostly affecting psychologically disturbed adult women. Repeated crops of tender, ill-defined ecchymotic lesions on the extremities and external bleeding from other sites characterize the condition.
Gardner-Diamond's syndrome, or autoerythrocyte sensitization, is a disorder of spontaneous, painful ecchymoses whose pathogenesis is unresolved. The role of psychopathologic factors in this entity has been emphasized in previous reports. The patient in this study had a classical history and characteristic clinical ...
Where can you find the annulus of Zinn?
Annulus of Zinn is in the orbit.
PURPOSE: To report an elevation deficit, which was caused by an accessory extraocular muscle, in a 6-year-old boy. METHODS: Computed tomography and magnetic resoce imaging were used to confirm an accessory, fusiform, well-defined, solid structure in the retrobulbar space. RESULTS: A supernumerary intraconal muscle wa...
What is the indication for SLCO1B1 genotyping?
HMG Co-A reductase inhibitors, commonly known as statins, also display wide interindividual variability in plasma concentration, response and toxicity due in part to polymorphisms in transporter genes, including SLCO1B1 and ABCG2. The SLCO1B1*5 variant is a risk factor for statin side effects and exhibits statin-speci...
Personalized medicine is an emerging field with a goal of applying genomic information as a predictor of disease risk as well as individualization of drug therapy. For optimization of drug therapy, significant progress has been made in the past decade in linking genetic variation in genes associated with drug dispo...
List available circular RNA prediction tools.
circRNA_finder, find_circ, CIRCexplorer, CIRI, and MapSplice.
CircRNAs are novel members of the non-coding RNA family. For several decades circRNAs have been known to exist, however only recently the widespread abundance has become appreciated. Annotation of circRNAs depends on sequencing reads spanning the backsplice junction and therefore map as non-linear reads in the geno...
Which disease is treated with Nusinersen?
Nusinersen us used for treatment of Spinal Muscular Atrophy.
Nusinersen (ISIS-SMNRx or ISIS 396443) is an antisense oligonucleotide drug administered intrathecally to treat spinal muscular atrophy. We summarize lumbar puncture experience in children with spinal muscular atrophy during a phase 1 open-label study of nusinersen and its extension. During the studies, 73 lumbar p...
Which disease the London mutation involved in?
London mutation that is the missense mutation in exon 17 of the amyloid precursor protein gene on chromosome 21 (Val717Ile) is involved in Alzheimer's Disease.
The major constituent of senile plaques in Alzheimer's disease is a 42-aa peptide, referred to as beta-amyloid (Abeta). Abeta is generated from a family of differentially spliced, type-1 transmembrane domain (TM)-containing proteins, called APP, by endoproteolytic processing. The major, relatively ubiquitous pathwa...
Define lncRNA.
Long noncoding RNAs (lncRNAs) represent a newly discovered class of regulatory molecules that impact a variety of biological processes in cells and organ systems. In humans, it is estimated that there may be more than twice as many lncRNA genes than protein-coding genes. However, only a handful of lncRNAs have been ana...
OBJECTIVE: Long non-coding RNAs (lncRNAs) are emerging as key molecules in cancers, yet their potential molecular mechanisms are not well understood. The objective of this study is to examine the expression and functions of lncRNAs in the development of colorectal cancer (CRC). METHODS: LncRNA expression profiling o...
How many microorganisms are present in human normal gut?
Human gut microbiota is home to 10 to 100 trillions microorganisms.
Social behavior plays a pivotal role in the mental well-being of an individual. Continuous efforts in the past have led to advancements in the area of how the brain regulates emotion and cognition, while the understanding of human social behavior still remains eluded. A major breakthrough in understanding the etiol...
What is the role of 3,4-diaminobenzoic acid derivatives in the immune system?
3,4-diaminobenzoic acid derivatives are inhibitors of the oxytocinase subfamily of M1 aminopeptidases with immune-regulating properties. Cell-based analysis indicated that the lead compounds can be effective in downregulating macrophage activation induced by lipopolysaccharide and interferon-γ as well as cross-presenta...
Members of the oxytocinase subfamily of M1 aminopeptidases (ERAP1, ERAP2, and IRAP) play important roles in both the adaptive and innate human immune responses. Their enzymatic activity can contribute to the pathogenesis of several major human diseases ranging from viral and parasitic infections to autoimmunity and...
Can NADPH oxidase be inhibited by apocynin and diphenylene iodonium?
Yes, nicotinamide adenine dinucleotide phosphate (NADPH) oxidase can be inhibited by apocynin or diphenylene iodonium (DPI).
Diphenylene iodonium (Ph2I), a lipophilic reagent, is an efficient inhibitor of the production of O2- by the activated NADPH oxidase of bovine neutrophils. In a cell-free system of NADPH oxidase activation consisting of neutrophil membranes and cytosol from resting cells, supplemented with guanosine 5'-[gamma-thio]...
Viliuisk encephalomyelitis is diagnosed in which geographical area?
Viliuisk encephalomyelitis (VE) is an endemic neurological disease in Northeast Siberia and generally considered to be a chronic encephalomyelitis of unknown origin actually spreading in the Sakha (Yakutian) Republic.
Viliuisk encephalomyelitis (VE), a progressive neurological disorder with a fatal outcome usually in several months to 6 yrs after disease onset, is seen only among the Iakut people of Siberia. The acute meningoencephalitic phase of the disease is followed by progressive dementia, rigidity and spastic tetraparesis....
What are Septins?
Septins are an evolutionarily conserved family of GTP-binding proteins. They are involved in diverse processes including cytokinesis, apoptosis, infection, neurodegeneration and neoplasia. In yeast, septins assemble into a highly ordered array of filaments at the mother bud neck in Saccharomyces cerevisiae cells. Septi...
The septins are a novel family of proteins that were first recognized in yeast as proteins associated with the neck filaments. Recent work has shown that septins are also present in other fungi, insects, and vertebrates. Despite the apparent differences in modes of cytokinesis amongst species, septins appear to be ...
What is the drug target for Simtuzumab?
These results suggest that LOXL2 could be an appealing target for treatment of scar formation after glaucoma surgery, and point to the potential therapeutic benefits of simtuzumab, a humanized monoclonal antibody derived from GS-607601.
There is worldwide epidemic of non-alcoholic fatty liver disease (NAFLD). NAFLD is a clinical entity related to metabolic syndrome. Majority of the patients are obese but the disease can affect non-obese individuals as well. Metabolic factors and genetics play important roles in the pathogenesis of this disorder. T...
What is Dravet syndrome?
Dravet syndrome is one of the most severe epilepsy syndromes of early childhood, and it comes with very high morbidity and mortality. It is likely that Dravet syndrome is underdiagnosed in adults with treatment-resistant epilepsy.
OBJECTIVE: To describe the long term efficacy and tolerance of stiripentol associated with valproate and clobazam in an exhaustive cohort of patients with severe myoclonic epilepsy of infancy (Dravet's syndrome), in which short term efficacy of such a treatment has recently been demonstrated in a placebo-controlled...
What makes telomerase a good drug target?
Human telomerase is absent in most normal tissues, but is abnormally activated in all major cancer cells. Telomerase enables tumor cells to maintain telomere length, allowing indefinite replicative capacity.
The activation of telomerase, which specifically occurs in neoplastic cells to avoid telomere attrition at each cell division, is a necessary event in tumorigenesis. The evidence that telomerase is also present in normal B cells at different levels according to their differentiation and activation state makes the s...
What is DENdb?
DENdb is a centralized on-line repository of predicted enhancers derived from multiple human cell-lines. DENdb integrates enhancers predicted by five different methods generating an enriched catalogue of putative enhancers for each of the analysed cell-lines. DENdb provides information about the overlap of enhancers wi...
List scales that are used for scoring of patients with spinal metastasis?
Tokuhashi, Tomita, Bauer, and Oswestry scores are used for survival prediction of patients with spinal metastases.
Predicting prognosis is the key factor in selecting the proper treatment modality for patients with spinal metastases. Therefore, various assessment systems have been designed in order to provide a basis for deciding the course of treatment. Such systems have been proposed by Tokuhashi, Sioutos, Tomita, Van der Lin...
Does NADPH oxidase 5 require any subunit for function?
No, NADPH oxidase 5 (NOX5) does not require any subunits for function.
The integral membrane protein p22phox is an indispensable component of the superoxide-generating phagocyte NADPH oxidase, whose catalytic core is the membrane-associated gp91phox (also known as Nox2). p22phox associates with gp91phox and, through its proline-rich C terminus, provides a binding site for the tandem S...
What are the side effects during statins administration in patients with atherosclerosis?
The side effects during statins administration in patients with atherosclerosis are: 1) Myopathy 2) Transaminase elevations 3) Diabetes mellitus 4) Renal and neurologic adverse effects.
Statins are generally considered as safe drugs with a very favorable cost-efficacy-ratio. Calculation of health expenses limits the prescription of statins in primary prevention to persons on high risk (i.e. 20% risk of a coronary infarction within the next 10 years). Prescription of statins in secondary prevention...
Entresto is composed of which two drugs?
Entresto is composed of sacubitril and valsartan. It is newly FDA-approved medication that dually inhibits angiotensin and neprilysin, in the treatment of heart failure.
Sacubitril/valsartan (Entresto) for chronic heart failure; brexpiprazole (Rexulti) for major depressive disorder and schizophrenia; and lumacaftor/ivacaftor (Orkambi) for cystic fibrosis involving specific CFTR mutations. The PARADIGM-HF study, a large outcome trial in heart failure and reduced ejection fraction (...
What is the doRiNA database?
doRina is a database of RNA interactions in post-transcriptional regulation.
In animals, RNA binding proteins (RBPs) and microRNAs (miRNAs) post-transcriptionally regulate the expression of virtually all genes by binding to RNA. Recent advances in experimental and computational methods facilitate transcriptome-wide mapping of these interactions. It is thought that the combinatorial action o...
Is NSD-1015 an inhibitor of Aromatic L-Amino Acid Decarboxylase?
Yes, NSD-1015 is an ihnibitor of Aromatic L-Amino Decarboxylase.
The effect of haloperidol and apomorphine, and both drugs in combination, on the first steps in the synthesis of catecholamines and 5-hydroxytryptamine (5-HT) has been studied in three rat brain regions. The rate of formation of dopa and 5-hydroxytryptophan (5-HTP) was studied by measuring the accumulation of these ...
Is pseudouridine a RNA modification?
Yes, pseudouridine (Ψ) is the most abundant of>150 nucleoside modifications in RNA.
The number and position of the pseudouridines of Haloarcula marismortui and Deinococcus radiodurans large subunit RNA have been determined by a combination of total nucleoside analysis by HPLC-mass spectrometry and pseudouridine sequencing by the reverse transcriptase method and by LC/MS/MS. Three pseudouridines we...
What does the human ABCC gene product do?
The important drug resistance-conferring members belong to three subfamilies of the human ABC family; these are ABCB1 (MDR1/P-glycoprotein of subfamily ABCB), subfamily ABCC (MRPs), and ABCG2 (BCRP of subfamily ABCG), which are expressed in various organs. The ATP-binding cassette (ABC) transporters constitute a large ...
Several years ago, we initiated a long-term project of cloning new human ATP-binding cassette (ABC) transporters and linking them to various disease phenotypes. As one of the results of this project, we present two new members of the human ABCC subfamily, ABCC11 and ABCC12. These two new human ABC transporters were...
What is the connection between furin and hepcidin?
The iron-regulatory peptide hepcidin is synthesized in the liver as an 84-aa pre-pro-hormone maturated by proteolysis through a consensus furin cleavage site to generate the bioactive 25-aa peptide secreted in the circulation. The hepatic prohormone convertase furin mediates the posttranslational processing of hepcidin...
Hepcidin is encoded as an 84 amino acid prepropeptide containing a typical N-terminal 24 amino acid endoplasmic reticulum targeting signal sequence, and a 35 amino acid proregion (pro) with a consensus furin cleavage site immediately followed by the C-terminal 25 amino acid bioactive iron-regulatory hormone (mature...
Which cells express CIDEC protein in humans?
The cell death-inducing DNA fragmentation factor alpha-like effector c (CIDEC) is a lipid droplet-associated protein that promotes intracellular triglyceride (TAG) storage. CIDEC is highly expressed in adipocytes, but undetectable in normal liver. However, its hepatic expression rises during fasting or under genetic or...
Fat-specific protein (FSP)27/Cidec is most highly expressed in white and brown adipose tissues and increases in abundance by over 50-fold during adipogenesis. However, its function in adipocytes has remained elusive since its discovery over 15 years ago. Here we demonstrate that FSP27/Cidec localizes to lipid dropl...
Which is the relation between coffee consumption and stroke risk?
The coffee paradox in stroke: Increased consumption linked with fewer strokes.
Current evidence from experimental studies in animals and humans along with findings from prospective studies indicates beneficial effects of green and black tea as well as chocolate on cardiovascular health, and that tea and chocolate consumption may reduce the risk of stroke. The strongest evidence exists for ben...
What is the purpose of the Orpington Prognostic Scale?
The Orpington Prognostic Scale (OPS) is used to predict futue functional status of stroke patients, to asses stroke severity, outcome and response to subacute rehabilitation. In patients with stroke, OPS and NIHSS had significant contribution to the estimation of the functional status and OPS was more effective than NI...
OBJECTIVE: To determine the validity of clinically derived prognostic scores in targeting stroke rehabilitation in elderly patients. DESIGN, SETTING AND PARTICIPANTS: One-year prospective cohort study in 96 hospitalized stroke patients over 75 years of age from a well defined geographical area. MEASUREMENTS: Edinbur...
Do IEG create a ripple effect of transcription?
Rapid induction of immediate-early genes (IEGs) in response to growth factor stimulations is accompanied by co-upregulation of their neighbouring genes. Profiling the primary transcripts in the nucleus with whole-genome tiling arrays delineated simultaneous activation of transcription centred on IEGs.
Transcriptional initiation of each gene is assumed to be independently controlled in mammals. On the other hand, recent large-scale transcriptome analyses have shown that the genome is pervasively transcribed, such that the most of its DNA gives rise to RNAs. This raises the question of whether it is possible to pi...
Which R package is used for the analysis of genome-wide DNA methylation profiles?
MethylKit is a comprehensive R package for the analysis of genome-wide DNA methylation profiles. MethylKit includes functions for clustering, sample quality visualization, differential methylation analysis and annotation features, thus automating and simplifying many of the steps for discerning statistically significan...
Do T-Cells regulate neuropathic pain?
Macrophage-T cell interactions can mediate neuropathic pain through the glucocorticoid-induced TNF
A catastrophic consequence of peripheral nerve injury is the development of abnormal, chronic neuropathic pain. The inflammatory response at the injury site is believed to contribute to the generation and maintece of such persistent pain. However, the physiological significance and potential contribution of T cells...
What is the incidence of new cases of X-linked adrenoleukodystrophy (ALD) in Australian and New Zealand in the late 1990's?
cases of ALD diagnosed in Australia and New Zealand between 1981 and 1996 and their families. We estimate that the combined incidence of ALD and its variants in Australasia is at least 1.6 per 100,000.
Can telomere length shortening be reversed by telomerase?
Yes, telomerase gene therapy rescues telomere length, bone marrow aplasia, and survival in mice with aplastic anemia.
Aplastic anemia is a fatal bone marrow disorder characterized by peripheral pancytopenia and marrow hypoplasia. The disease can be hereditary or acquired and develops at any stage of life. A subgroup of the inherited form is caused by replicative impairment of hematopoietic stem and progenitor cells due to very sho...
Is ABCE1 involved in ribosomal recycling?
Yes, recent studies have identified ABCE1 as a ribosome-recycling factor important for translation termination in mammalian cells, yeast and also archaea
To study the function of Rli1/ABCE1 in vivo, we used ribosome profiling and biochemistry to characterize its contribution to ribosome recycling. When Rli1 levels were diminished, 80S ribosomes accumulated both at stop codons and in the adjoining 3'UTRs of most mRNAs. Frequently, these ribosomes reinitiated translat...
What are clinical features of the de Morsier syndrome?
Classic triad of the De Morsier syndrome (septooptic dysplasia) includes optic nerve hypoplasia, the absence of septum pellucidum, and pituitary hypoplasia.
A 12-year-old girl and a 30-year-old woman had bilateral optic disk hypoplasia and bitemporal hemianopia. By using computed axial tomography on our patients, we demonstrated the absence of the septum pellucidum, which confirmed the diagnosis of septo-optic dysplasia, or the de Morsier syndrome. The de Morsier syndro...
Does oculocutaneous albinism show an autosomal recessive inheritance?
Yes, oculocutaneous albinism shows an autosomal recessive inheritance.
The segregation of brown (type IV) oculocutaneous albinism was analyzed in 18 Nigerian families. Analysis using the POINTER program showed that this type of oculocutaneous albinism was inherited in an autosomal recessive pattern, with an estimated gene frequency of 0.025 +/- 0.007 in this population. The enzyme def...
Which is the largest metabolic gene cluster in yeast?
The DAL cluster is the largest metabolic gene cluster in yeast and consists of six adjacent genes encoding proteins that enable Saccharomyces cerevisiae to use allantoin as a nitrogen source.
What is the applicability of the MCAST algorithm?
The MCAST algorithm uses a hidden Markov model with a P-value-based scoring scheme to identify candidate CRMs.
BACKGROUND: Cis-regulatory modules (CRMs) are short stretches of DNA that help regulate gene expression in higher eukaryotes. They have been found up to 1 megabase away from the genes they regulate and can be located upstream, downstream, and even within their target genes. Due to the difficulty of finding CRMs usi...
Which ApoE isoform is associated with atherosclerosis and Alzheimer's disease?
The ApoE4 isoform is associated with increased frequency of atherosclerosis and Alzheimer's disease (AD).
The apolipoprotein E type 4 allele is a susceptibility gene for late-onset Alzheimer's disease. Apolipoprotein E is found in neurons, some of which contain paired helical filaments made of the microtubule-associated protein tau. Previous studies have demonstrated that the apoE3 isoform, but not the apoE4 isoform, b...
Are Ultra-conserved elements (UCEs) enriched in segmental duplications?
ULEs are located in intergenic or intronic regions and are depleted from segmental duplications. In addition, here we show that these elements are preferentially found in pathogenic deletions (enrichment ratio 3.6 vs. 0.5 in duplications), and that this association is not related with a higher content of genes.
An earlier search in the human, mouse and rat genomes for sequences that are 100% conserved in orthologous segments and > or = 200 bp in length identified 481 distinct sequences. These human-mouse-rat sequences, which represent ultraconserved elements (UCEs), are believed to be important for functions involving DNA...
What organism causes woolsorter's disease
Woolsorter's disease is caused by the same organism as Anthrax, bacillus Anthrax.
Woolsorters' disease was a feared industrial disease associated primarily with Yorkshire's textile industry of the nineteenth and early twentieth centuries. Early occupational health methods were attempted locally before concerted national efforts produced legislative measures. When its link with anthrax was establ...
Which annotated database of A-to-I RNA editing is available?
RADAR is a rigorously annotated database of A-to-I RNA editing. RADAR includes a comprehensive collection of A-to-I RNA editing sites identified in humans (Homo sapiens), mice (Mus musculus) and flies (Drosophila melanogaster), together with extensive manually curated annotations for each editing site. RADAR also inclu...
We present RADAR--a rigorously annotated database of A-to-I RNA editing (available at http://RNAedit.com). The identification of A-to-I RNA editing sites has been dramatically accelerated in the past few years by high-throughput RNA sequencing studies. RADAR includes a comprehensive collection of A-to-I RNA editing...
Do normal cells express the protein TERT?
Νο, telomerase activity is found in 85%-90% of all human cancers but not in their adjacent normal cells. Human telomerase reverse transcriptase (hTERT) is an essential component in the telomerase complex that plays an important role in telomerase activity.
Replication-selective tumor-specific viruses present a novel approach for treatment of neoplastic disease. These vectors are designed to induce virus-mediated lysis of tumor cells after selective viral propagation within the tumor. For targeting cancer cells, there is a need for tissue- or cell-specific promoters t...
Which protein complexes recognize centromeric (CEN) DNA in yeast?
The Schizosaccharomyces pombe centromere-linked genes, LYS1 and CYH1 on chromosome I and TPS13 and RAN1 on chromosome II, have been isolated. In budding yeast, as well as in other eukaryotes, the Cse4 histone variant (known in vertebrates as CENP-A) is believed to substitute for histone H3 at the centromeric nucleosome...
The Schizosaccharomyces pombe centromere-linked genes, LYS1 and CYH1 on chromosome I and TPS13 and RAN1 on chromosome II, have been isolated. The genetic order of these markers with respect to their centromeres was determined to establish relative directionality on the genetic and physical maps. Chromosome walking ...
Is there any involvement of the long non-coding RNA Gomafu in schizophrenia?
Yes. The long non-coding RNA Gomafu is acutely regulated in response to neuronal activation and involved in schizophrenia-associated alternative splicing.
Author information: (1)Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia. (2)Australian Institute for Bioengineering and Nanotechnology, The University of Queensland, Brisbane, QLD, Australia. (3)Department of Neuroscience, Neurology and Ophthalmology, Center for High-Through...
Is butterfly rash a symptom of Systemic lupus erythematosus?
Yes, butterfly rash is symptom of Systemic lupus erythematosus.
The development of systemic lupus erythematosus (SLE) after 38 months of therapy with recombit human interferon gamma (rIFN-gamma) was observed in a patient with rheumatoid arthritis. In addition to glomerulonephritis and a butterfly rash, previously negative tests for antinuclear, anti-dsDNA and anti-Sm antibodies...
What is the function of yeast Clr4 on chromatin?
Clr4 is known to regulate silencing and switching at the mating-type loci and to affect chromatin structure at centromeres. The Clr4 methyltransferase determines the subnuclear localization of the mating-type region in fission yeast. Heterochromatin assembly in fission yeast depends on the Clr4 histone methyltransferas...
Transcriptional silencing is known to occur at centromeres, telomeres and the mating type region in the nucleus of fission yeast, Schizosaccharomyces pombe. Mating-type silencing factors have previously been shown also to affect transcriptional repression within centromeres and to some extent at telomeres. Mutation...
What is the role of LIMT lncRNA?
LINC01089 (LncRNA Inhibiting Metastasis; LIMT) is a highly conserved lncRNA, which is depleted in basal-like and in HER2-positive tumors, and the low expression of which predicts poor patient prognosis. Interestingly, EGF rapidly downregulates LIMT expression by enhancing histone deacetylation at the respective promote...
Author information: (1)Department of Biological Regulation, Weizmann Institute of Science, Rehovot, Israel. (2)Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital, The Norwegian Radium Hospital, Oslo, Norway K.G. Jebsen Centre for Breast Cancer Research, Institute for Clinical Medi...
Is infertility characteristic of individuals with Fanconi anemia?
Yes, infertility is characteristic of individuals with Fanconi anemia.
Fanconi anemia (FA) is a hereditary chromosomal instability syndrome with cancer predisposition. Bone marrow failure resulting in pancytopenia is the main cause of death of FA patients. Diagnosis of FA is based on their cellular hypersensitivity to DNA crosslinking agents and chromosome breakages. Somatic complemen...
What are Kupffer cells and what is their role?
Kupffer cells (KCs)are hepatic macrophages which can secrete matrix metalloproteinases (MMPs), and can contribute to decreased hepatic insulin sensitivity. KCs may play a role in the development of drug induced liver injury (DILI)
Kupffer cells (KC), by virtue of their ability to present antigen (AP) and express major histocompatibility complex (MHC) class II antigen (Ia), play a pivotal role in the host defence system against invading micro-organisms. Although haemorrhagic shock depresses the above KC functions, it is not known whether incr...
What is known about saponins in crops and human consumption?
Saponins are considered antinutrients for humans and have a bitter taste. They should be removed from the crops before consumption.
Seven seed samples of J. curcas, both in raw and roasted state, sold in some villages in Quintana Roo state, Mexico for human consumption were analyzed for physical characteristics, nutrients and antinutrients. The average seed weight varied from 0.53 to 0.74 g and kernel weight as proportion of raw seed weight was...
Is golimumab effective for ulcerative colitis?
Yes. Golimumab is a TNF-blocking agent indicated as a second-line therapy in ulcerative colitis.
Centocor Inc and licensees Schering-Plough Corp, Mitsubishi Tanabe Pharma Corp and Janssen Pharmaceutical KK are developing golimumab, a fully human mAb antibody against TNFalpha, for the potential treatment of rheumatoid arthritis (RA), psoriatic arthritis (PsA), ankylosing spondylitis (AS) and ulcerative colitis....
What is the role of histone variant H2A.W?
The histone variant H2A.W defines heterochromatin and promotes chromatin condensation in Arabidopsis. The histone variant H2A.W marks heterochromatin specifically and acts in synergy with heterochromatic marks H3K9me2 and DNA methylation to maintain transposon silencing. In vivo, H2A.W is required for heterochromatin c...
Nucleosomal core histones (H2A, H2B, H3 and H4) must be assembled, replaced or exchanged to preserve or modify chromatin organization and function according to cellular needs. Histone chaperones escort histones, and play key functions during nucleosome assembly/disassembly and in nucleosome structure configuration....
Which are the main brain dysfunctions caused by hyperbilirubinemia?
Bilirubin-induced neurologic dysfunction (BIND) and classical kernicterus are the main dysfunctions of hyperbilirubinemia, whenever bilirubin levels exceed the capacity of the brain defensive mechanisms in preventing its entrance and cytotoxicity. Bilirubin accumulation may lead to deficits in auditory, cognitive, and ...
Astrocytic reaction to perinatal brain damage, which is caused by hyperammonemia, liver disease, hyperbilirubinemia, and a few other conditions, was studied using immunohistochemical methods for the demonstration of glial fibrillary acidic protein (GFAP). We found no increase in GFAP expression in those areas where...
Does mTOR regulate the translation of MAPKAPK2?
Yes. mTOR regulates the translation of the MK2 (also known as MAPKAPK2) kinase through 4EBP1. In turn, MAPKAPK2 phosphorylates the RNA-binding protein ZFP36L1 during senescence, inhibiting its ability to degrade the transcripts of numerous senescence-associated secretory phenotype (SASP) components. Consequently, mTOR...
OBJECTIVES: The role of Ataxia-telangiectasia mutated (ATM) in response to DNA damage has previously been studied, but its underlying mechanisms specific to ionizing radiation (IR) have remained to be elucidated. In this study, function of ATM on radiation-induced cell death in lung cancer H1299 cells was analysed. ...
What chromosome is affected in Turner's syndrome?
turner's syndrome (ts) is a chromosomal defect with partial or total absence of the x chromosome.
Seven women in three generations of a family have been affected by Turner syndrome. Turner phenotype in this family is the result of deletion of the entire short arm of one X chromosome. The short arm deletion is transmitted by carriers of a balanced X-1 translocation. Autoradiographic findings showed that the dele...
What is the aim of the TRAP assay?
Telomerase enzyme activity can be detected in whole cell lysates by a polymerase chain reaction (PCR)-based method referred to as the telomeric repeat amplification protocol (TRAP).
During erythropoiesis, some organelles such as mitochondria and nucleus are lost by autophagy and enucleation processes in the presence of macrophages in vivo. In vitro production of erythrocytes has raised many questions about the mechanism of enucleation. The aim of this work was to study the DNA breakdown, enucl...
Describe clinical applications of the PIM2 scoring system.
The Pediatric Index of Mortality 2 (PIM2) is one of the most commonly used scoring systems to predict mortality in patients admitted to pediatric intensive care units. The PIM2 score adequately discriminates survivors from non-survivor
OBJECTIVE: Pediatric Index of Mortality 2 (PIM2) is an up-to-date mortality prediction model in the public domain that has not yet been widely validated. We aimed to evaluate this score in the population of patients admitted to our pediatric intensive care unit. DESIGN: Prospective cohort study. SETTING: Multidiscip...
Do histone variant mH2A (macro-H2A) levels decrease upon differentiation?
MacroH2A.1 was found to be present at low levels upon the establishment of pluripotency in the inner cell mass and epiblast, but it was highly enriched in the trophectoderm and differentiated somatic cells later in mouse development. Chromatin immunoprecipitation revealed that macroH2A.1 is incorporated in the chromati...
How various layers of epigenetic repression restrict somatic cell nuclear reprogramming is poorly understood. The transfer of mammalian somatic cell nuclei into Xenopus oocytes induces transcriptional reprogramming of previously repressed genes. Here, we address the mechanisms that restrict reprogramming following ...
Which disease is associated with mutations in SLC40A1 gene?
Mutations in the SLC40A1 gene, which encodes the cellular iron exporter ferroportin, are associated with the autosomal dominant hemochromatosis type 4 or Ferroportin disease. The patients characteristically have hyperferritinemia and iron overload.
The product of the SLC40A1 gene, ferroportin 1, is a main iron export protein. Pathogenic mutations in ferroportin 1 lead to an autosomal domit hereditary iron overload syndrome characterized by high serum ferritin concentration, normal transferrin saturation, iron accumulation predomitly in macrophages, and margin...
Could divalent metal transporter 1 deficiency lead to anemia?
Yes, divalent metal transporter 1 (DMT1) deficiency could result in anemia, as DMT1 is a major iron transporter required for iron absorption and erythropoiesis. DMT1 deficiency impairs erythroid differentiation and induces apoptosis of erythroid cells.
NRAMP2 (natural resistance-associated macrophage protein 2)/DMT1 (divalent metal transporter 1) is a divalent metal transporter conserved from prokaryotes to higher eukaryotes that exhibits an unusually broad substrate range, including Fe(2+), Zn(2+), Mn(2+), Cu(2+), Cd(2+), Co(2+), Ni(2+), and Pb(2+), and mediates ...
Does the hERG gene code for a protein which is part of a sodium channel?
The hERG AKA Human ether-a-go-go-related gene coded for a protein subunit of a potassium channel that conducts delayed rectifier K(+) current
BACKGROUND: The genes for the long QT syndrome (LQTS) linked to chromosomes 3 (LQT3) and 7 (LQT2) were identified as SCN5A, the cardiac Na+ channel gene, and as HERG, a K+ channel gene. These findings opened the possibility of attempting gene-specific control of ventricular repolarization. We tested the hypothesis ...
Is lenvatinib effective for renal cell carcinoma?
Yes, combination of lenvatinib and everolimus is approved to treat advanced or metastatic renal cell carcinoma.
PURPOSE: Lenvatinib is an oral multi-targeted tyrosine kinase inhibitor of VEGFR1-3, FGFR1-4, PDGFRβ, RET, and KIT. Everolimus is an oral mammalian target of rapamycin inhibitor approved for advanced renal cell carcinoma (RCC). This phase 1b study assessed safety, maximum tolerated dose (MTD), and preliminary antit...
Which proteins form part of the NRD complex in S. cerevisiae?
The purification of an ATR complex allowed identification of chromodomain-helicase-DNA-binding protein 4 (CHD4) as an ATR-associated protein by tandem mass spectrometric sequencing. CHD4 (also called Mi-2beta) is a component of a histone-deacetylase-2 (HDAC2)-containing complex, the nucleosome remodeling and deacetylat...
Ataxia telangiectasia mutated (ATM)- and Rad3-related protein (ATR) is a phosphatidylinositol-kinase (PIK)-related kinase that has been implicated in the response of human cells to multiple forms of DNA damage and may play a role in the DNA replication checkpoint. The purification of an ATR complex allowed identifi...
Which R / bioconductor package is used for performing SNP enrichment analysis?
traseR is an easy-to-use R Bioconductor package that performs enrichment analyses of trait-associated SNPs in arbitrary genomic intervals with flexible options, including testing method, type of background and inclusion of SNPs in LD.
Genome-wide association studies (GWASs) have successfully identified many sequence variants that are significantly associated with common diseases and traits. Tens of thousands of such trait-associated SNPs have already been cataloged, which we believe form a great resource for genomic research. Recent studies have...
Does HuR bind to the untranslated regions (UTRs) of mRNAs?
Yes, the RNA-binding protein HuR binds at 3' untranslated regions (UTRs) of target transcripts, thereby protecting them against degradation.
Alterations in gene expression are central to the maligt phenotype. In this issue, Al-Ahmadi et al elegantly demonstrate that one key mechanism that determines invasiness in breast cancer is likely to be dysregulation of mRNA stability. This is achieved by altered expression of the proteins TTP and HuR, which bind ...
Describe Exploding head syndrome.
Exploding head syndrome is characterized by the perception of abrupt, loud noises when going to sleep or waking up.
Attention has recently been drawn to a condition termed the exploding head syndrome, which is characterized by unpleasant, even terrifying sensations of flashing lights and/or sounds during reported sleep. Nine patients complaining of sensations of explosions in the head during sleep or drowsiness were investigated...
Is H4K20 methylation associated with DNA replication?
We employed genetic, cytological, and genomic approaches to better understand the role of PR-Set7 and H4K20 methylation in regulating DNA replication and genome stability in Drosophila cells. Thus, coordinating the status of H4K20 methylation is pivotal for the proper selection of DNA replication origins in higher euka...
The molecular biology of histone H4 lysine 20 (H4K20) methylation, like many other post-translational modifications of histones, has been the subject of intensive interest in recent years. While there is an emerging consensus linking H4K20me1, H4K20me2, and H4K20me3 to transcription, repair, and constitutive hetero...
Describe crowned dens syndrome.
Crowned dens syndrome is a rare form of "crown-like" calcifications around the dens and often presents with recurrent neck pain, stiffness of neck, increased erythrocyte sedimentation rate, and episodes of fever.
The crowned dens syndrome has been termed as acute neck pain ascribed to CPPD deposits associated with a tomographic appearance of calcification surrounding the odontoid process. This rare entity resulting in cervical cord compression is generally seen in older female patients. We present a 26-year-old woman with c...
Does CRISPR inversion of CTCF sites alter genome topology?
Yes. CRISPR inversion of CTCF sites alters genome topology.
Author information: (1)Center for Comparative Biomedicine, MOE Key Laboratory of Systems Biomedicine, Institute of Systems Biomedicine, Collaborative Innovation Center of Systems Biomedicine, Shanghai Jiao Tong University (SJTU), Shanghai 200240, China; State Key Laboratory of Oncogenes and Related Genes, Shanghai C...
How are looped genes identified in yest?
Gene-loop formation is dependent on regulatory proteins localized at the 5' and 3' ends of genes, such as TFIIB
Gene looping juxtaposes the promoter and terminator regions of RNA polymerase II-transcribed genes in yeast and mammalian cells. Here we report an activator-dependent interaction of transcription initiation and termination factors during gene looping in budding yeast. Chromatin analysis revealed that MET16, INO1, a...
Which are the causes of the Koebner phenomenon?
The causes of the Koebner phenomenon are: 1) Lichen sclerosus 2) Vitiligo 3) Psoriasis and 4) Physical stress.
In 1877, Dr Heinrich Koebner inflicted an experimental trauma on the uninvolved skin of a psoriatic patient. This resulted in the appearance of a typical psoriatic lesion at the site of trauma. This reaction, known as Koebner's phenomenon (KP), has subsequently been associated with several skin diseases. However, i...
Is there a role of proton beam therapy in medulloblastoma treatment?
Yes, proton beam therapy is used for treatment of medulloblastoma.
The ability to vary the proton energy (depth of beam penetration) and modulate the dose distribution at the end of range permits delivery of an increased dose to the designated cancer-containing volume with a reduced dose to overlying normal brain tissue. The evolution of childhood CNS maligcy following therapy is ...
What is the function of the DGAT1 gene product?
Diacylglycerol acyltransferase 1 (DGAT1) catalyzes the final step in the acyl-CoA-dependent triacylglycerol biosynthesis
Acyl CoA:diacylgycerol acyltransferase (EC; DGAT) catalyzes the final step in the production of triacylglycerol. Two polypeptides, which co-purified with DGAT activity, were isolated from the lipid bodies of the oleaginous fungus Mortierella ramanniana with a procedure consisting of dye affinity, hydroxyapatite aff...
Which histone mutation is associated with gliomas?
Pediatric central nervous system tumors are the most common solid tumor of childhood. Over 70% of diffuse intrinsic pediatric gliomas, an aggressive brainstem tumor, harbor heterozygous mutations that create a K27M amino acid substitution (methionine replaces lysine 27) in the tail of histone H3.3.
Sequencing of pediatric gliomas has identified missense mutations Lys27Met (K27M) and Gly34Arg/Val (G34R/V) in genes encoding histone H3.3 (H3F3A) and H3.1 (HIST3H1B). We report that human diffuse intrinsic pontine gliomas (DIPGs) containing the K27M mutation display significantly lower overall amounts of H3 with t...
Are there canonical marks of active chromatin in developmentally regulated genes?
No. The transcription of genes temporally regulated during fly and worm development occurs in the absence of canonically active histone modifications. Conversely, strong chromatin marking is related to transcriptional and post-transcriptional stability, an association also observed in mammals. Consequently, chromatin m...
The interplay of active and repressive histone modifications is assumed to have a key role in the regulation of gene expression. In contrast to this generally accepted view, we show that the transcription of genes temporally regulated during fly and worm development occurs in the absence of canonically active histo...
What is the purpose of HaploReg v4?
HaploReg v4 enables the systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease.
More than 90% of common variants associated with complex traits do not affect proteins directly, but instead the circuits that control gene expression. This has increased the urgency of understanding the regulatory genome as a key component for translating genetic results into mechanistic insights and ultimately th...
Which are the typical symptoms of Ménière's disease?
The typical symptoms of Ménière's disease are: 1) sensorineural hearing loss, 2) vertigo and 3) tinnitus.
Among 93 patients presenting the typical symptoms of a Ménière's disease associating an unilateral fluctuating hearing loss of sensorineural type, tinnitus and vertiginous attacks lasting minutes to hours, 40 patients (43%) presented in their personal history a particular otologic insult in the ear which later on d...
What tissue is most affected in Ehlers-Danlos syndromes?
the ehlers-danlos syndromes (eds) are a group of connective tissue disorders characterized by triad of joint hypermobility, skin extensibility, and tissue fragility.
The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. Considerable clinical and genetic heterogeneity exists, and more than nine separate forms have been recognized. Recent adva...
What is Mondor's disease?
Mondor's disease is a rare benign and self-limiting condition characterized by thrombophlebitis of the superficial veins of the anterolateral thoracoabdominal wall and genital area.
Mondor's disease is a superficial thrombophlebitis of the thoracic wall frequently affecting the female breast. In most cases the etiology is unknown, although operation, direct and indirect trauma, are known as causative factors. This material comprises five women, all with Mondor's disease of the breast. One pati...