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Can FOXOs modulate longevity? | FOXOs are reliable markers of longevity. | FOXO transcription factors have important roles in metabolism, cellular
proliferation, stress tolerance, and aging. FOXOs are negatively regulated by
protein kinase B/c-Akt-mediated phosphorylation. Here we show that FOXO factors
are also subject to regulation by reversible acetylation. We provide evidence
that the... |
Which antibody is implicated in the Bickerstaff's brainstem encephalitis? | The syndrome defined by Bickerstaff of progressive, external ophthalmoplegia and ataxia, with disturbance of consciousness or hyperreflexia, has subsequently been associated with antiganglioside antibody, anti-GQ1b | We presented a case of probable Bickerstaff's brainstem encephalitis. A
39-year-old woman developed easy falling, progressive consciousness disturbance,
total ophthalmoplegia, and bilateral pyramida tract sign. In serum
anti-ganglioside antibody assay using enzyme-linked immunosorbent assay, high
anti-GQ1b antibody... |
Which micro-RNAs have been associated in the pathogenesis of Rheumatoid Arthritis? | Different expression patterns of mir-146a, miRNA-155, miRNA-124a, mir-203, mir-223, mir-346, mir-132, mir-363, mir-498, mir-15a, and mir-16 were documented in several tissue sample types of RA patients. | OBJECTIVE: MicroRNAs (miRNA) have recently emerged as a new class of modulators
of gene expression. In this study we investigated the expression, regulation,
and function of miR-155 and miR-146a in rheumatoid arthritis (RA) synovial
fibroblasts (RASFs) and RA synovial tissue.
METHODS: Locked nucleic acid microarray ... |
Is there an association between FGFR3 mutation and plagiocephaly? | Yes, FGFR3 mutation is associated with plagiocephaly. It is the most common mutation in plagiocephaly. FGFR genes have important effects on bone development, and mutations in 4 "hot spot" exons of FGFR1-3 are found in many patients with craniosynostosis and some with synostotic plagiocephaly. | To determine whether the autosomal domit fibroblast growth factor receptor 3
(FGFR3) Pro250Arg mutation causes anterior plagiocephaly, patients with either
apparently sporadic unicoronal synostosis (N = 37) or other forms of anterior
plagiocephaly (N = 10) were studied for this mutation. Of 37 patients with
unicoro... |
Are CD44 variants (CD44v) associated with poor prognosis of metastasis? | Yes, several isoforms (obtained by by usage of ten variant exons in various combinations) have been causally related to metastasis. | CD44 designates a large family of proteins generated from one gene by
alternative splicing. Variants of CD44 (CD44v) differ from the standard form
(CD44s) by usage of ten variant exons in various combinations. Some variants
have been causally related to the metastatic spread of rat tumor cells. In human
mammary car... |
Is Bladder training an effective method to treat urge incontinence ? | Yes. Bladder training is a simple, safe, and effective treatment in the management of mild to moderate forms of urinary incontinence in outpatient populations. It can be used as a first-line treatment or in combination with such other interventions as pelvic muscle exercises, bladder pressure biofeedback, electrical st... | A total of 110 women who had reported urinary incontinence to their general
practitioners were randomly assigned to a treatment or control group. Treatment
consisted of pelvic floor exercises in the case of stress incontinence and
bladder training in the case of urge incontinence. The results were measured
after 3 ... |
What is the scope of the OMIA database? | Online Mendelian Inheritance in Animals (OMIA) is a comprehensive, annotated catalogue of inherited disorders and other familial traits in animals. OMIA is a comprehensive resource of phenotypic information on heritable animal traits and genes in a strongly comparative context, relating traits to genes where possible. | In addition to maintaining the GenBank nucleic acid sequence database, the
National Center for Biotechnology Information (NCBI) provides analysis and
retrieval resources for the data in GenBank and other biological data made
available through the NCBI web site. NCBI resources include Entrez, the Entrez
Programming ... |
What is the effect of methotrexate in treating uveitis due to juvenile idiopathic arthritis ? | The first-line standard therapy for uveitis is topical and systemic corticosteroids, often reinforced by methotrexate as a second-line disease-modifying antirheumatic drug (DMARD). MTX has a topical steroid sparing effect as well. Early treatment with MTX is advocated to prevent complications such as cataract. There a... | PURPOSE: To identify the possible risk factors for the development of cataract
requiring surgery in children with juvenile idiopathic arthritis
(JIA)-associated uveitis.
DESIGN: Retrospective cohort study.
METHODS: Data of 53 children with JIA-associated uveitis, of whom 27 had
undergone cataract extraction (CE), we... |
Which are the enzymes involved in the addition of 7-methylguanosine in mRNA? | The 7-methylguanosine cap added to the 5′ end of mRNA is essential for efficient gene expression and cell viability. Methylation of the guanosine cap is necessary for the translation of most cellular mRNAs in all eukaryotic organisms in which it has been investigated. In some experimental systems, cap methylation has a... | 1. Decapped tobacco mosaic virus (TMV) RNA and rabbit globin mRNA were prepared
by enzymic treatment of RNAs with nucleotide pyrophosphatase purified from
potato. The extent of removal of 5'-terminal 7-methylguanosine 5'-monophosphate
(m7GMP) from TMV RNA was at least 97% as estimated by labeling of the 5' termini
... |
What is HOCOMOCO? | HOCOMOCO is a comprehensive collection of human transcription factor binding sites models constructed by integration of binding sequences obtained by both low- and high-throughput methods. HOCOMOCO contains 426 systematically curated TFBS models for 401 human TFs, where 172 models are based on more than one data source... | |
In which condition was protein S100A7 originally identified? | Psoriasin (S100A7) was originally identified in psoriasis. | Human psoriasin (S100A7) has originally been described as a member of the family
of S100 calcium-binding proteins which is overexpressed in patients suffering
from psoriasis. The bovine homolog was first identified as a cow-derived
respiratory allergen. As Escherichia coli mastitis is a common problem in dairy
catt... |
Do proton pump inhibitors affect thyroxine absorption? | Proton-pump inhibitors, antacids and a long list of drugs may decrease thyroxine absorption.
Patients with hypothyroidism and normal TSH values during LT4 replacement therapy may need additional thyroid function testing after treatment with PPIs and may need adjustment of their LT4 dose. | METHOD: In a randomized, double-blind, two-period crossover study, pantoprazole
40 mg or placebo were given orally to 12 male volunteers for 2 weeks each. There
was a wash-out period of at least 1 week between the two treatment periods. The
effects of pantoprazole or placebo on cortisol and testosterone (primary
cr... |
Is PER3 required for CHK2 activation in human cells? | Depletion of Per3 by siRNA almost completely abolished activation of checkpoint kinase 2 (Chk2) after inducing DNA damage in human cells.Per3, a circadian gene, is required for Chk2 activation in human cells. | |
What is the typical alteration of the thyroid profile metabolism early after coronary artery bypass graft surgery? | Low T3 Syndrome is the more frequent alteration of thyroid hormone profile early after coronary artery bypass graft surgery. | The effect of a surgical stress on serum TSH, T4, free T4, T3, rT3 and TBG was
measured before, during and after a coronary bypass operation. Precautions were
taken to age, sex, pre-operative nutritional state, anamnestic illness, pre- and
post-operative medication. Compared to the pre-operative period TSH increased... |
Which proteins are involved in actin bundling and filopodia formation and function? | A number of proteins have been found to regulate F-actin bundling and enhance filopodia formation and motility. Among these are Cysteine-rich protein 1 (CRP1), Fascin, Macrophage actin-associated tyrosine phosphorylated protein (MAYP/PSTPIP2), Insulin receptor tyrosine kinase substrate p53 (IRSp53), Missing in metastas... | Growth cones at the distal tips of growing nerve axons contain bundles of actin
filaments distributed throughout the lamellipodium and that project into
filopodia. The regulation of actin bundling by specific actin binding proteins
is likely to play an important role in many growth cone behaviors. Although the
acti... |
What does the SAGA complex acronym stands for? | SAGA stands for Spt-Ada-Gcn5-acetyltransferase (SAGA) | The molecular organization of the yeast transcriptional coactivator Spt-Ada-Gcn5
acetyltransferase (SAGA) was analyzed by single-particle electron microscopy.
Complete or partial deletion of the Sgf73 subunit disconnects the
deubiquitination (DUB) module from SAGA and favors in our conditions the
cleavage of the C-... |
What is the result of the interaction between TSC1 and PLK1? | Phosphorylated TSC1 (hamartin) interacts with Plk1 independent of TSC2 (tuberin), with all three proteins present in a complex, and negatively regulates the protein levels of Plk1, to control centrosome duplication. | Tuberous sclerosis complex (TSC) is a tumor suppressor gene syndrome caused by
mutations in TSC1 and TSC2. Hamartin and tuberin, the products of TSC1 and TSC2,
respectively, form heterodimers and inhibit the mammalian target of rapamycin.
Previously, we have shown that hamartin is phosphorylated by CDC2/cyclin B1
d... |
What are the characteristics of the "Universal Proteomics Standard 2" (UPS2)? | The UPS2 proteomic dynamic range standard was introduced by the Association of Biomolecular Resource Facilities Proteomics Standards Research Group in 2006 and it has a dynamic range of 5 orders of magnitude. | Proteome scale absolute quantification is fundamental for the quantitative
understanding of an organism. The unsatisfactory accuracy for protein abundance
estimation of current algorithms has been partially improved by the Absolute
Protein EXpression profiling (APEX) algorithm, which implements the prior
expectatio... |
Which polyQ tract protein is linked to Spinocerebellar Ataxia type 2? | Ataxin-2 is an evolutionarily conserved protein first identified in humans as responsible for spinocerebellar ataxia type 2 (SCA2). The molecular basis of SCA2 is the expansion of a polyglutamine tract in Ataxin-2, encoding a Lsm domain that may bind RNA and a PAM2 motif that enables interaction with the poly (A) bindi... | |
Which are the smallest known subviral pathogens of plants? | Contrary to earlier beliefs, viruses are not the smallest causative agents of infectious diseases. Single-stranded RNAs as small as 246 nucleotides exist in certain higher plants and cause more than a dozen crop diseases. These RNAs have been termed viroids. Viroids are plant subviral pathogens whose genomes are consti... | Contrary to earlier beliefs, viruses are not the smallest causative agents of
infectious diseases. Single-stranded RNAs as small as 246 nucleotides exist in
certain higher plants and cause more than a dozen crop diseases. These RNAs have
been termed viroids. Despite their extremely limited information content,
viro... |
What causes Katayama Fever? | Katayama fever is an acute clinical condition characterised by high fever, dry cough and general malaise occurring during early Schistosoma spp. infection. | Katayama fever or acute schistosomiasis probably occurs more commonly than is
recorded. Interviews with a 3-man scuba diving team who had had contact with a
large dam in an endemic area of the eastern Transvaal Lowveld at the same time
and contact area on the same day during late summer of 1986 are discussed. Two,
... |
List clinical trials for prevention of sarcopenia | Several clinical trials with androgen replacement therapy.
Study was to evaluate the effect of omega-3 fatty acid supplementation on the rate of muscle protein synthesis. This trial was registered at clinical trials.gov as NCT00794079 | The term "sarcopenia" describes the progressive decline of muscle mass, strength
and function occurring with aging. It is not considered a disease, but the
direct consequence of the aging process on the skeletal muscle. Multiple
demographic (e.g. gender, race), biological (e.g. inflammatory status) and
clinical (e.... |
Which is the database of molecular recognition features in membrane proteins? | mpMoRFsDB provides valuable information related to disorder-based protein-protein interactions in membrane proteins. | SUMMARY: Molecular recognition features (MoRFs) are small, intrinsically
disordered regions in proteins that undergo a disorder-to-order transition on
binding to their partners. MoRFs are involved in protein-protein interactions
and may function as the initial step in molecular recognition. The aim of this
work was... |
Which database is available for the identification of chorion proteins in Lepidopteran proteomes? | LepChorionDB | Chorion proteins of Lepidoptera have a tripartite structure, which consists of a
central domain and two, more variable, flanking arms. The central domain is
highly conserved and it is used for the classification of chorion proteins into
two major classes, A and B. Annotated and unreviewed Lepidopteran chorion
prote... |
Are there any clinical trials of the effect of evening primrose oil on postmenopausal symptoms ? | Yes | OBJECTIVE: To evaluate the efficacy of gamolenic acid provided by evening
primrose oil in treating hot flushes and sweating associated with the menopause.
DESIGN: Randomised, double blind, placebo controlled study.
SETTING: District general hospital and teaching hospital.
SUBJECTS: 56 menopausal women suffering hot fl... |
Is acid alpha-glucosidase the enzyme that causes Pompe disease when mutant? | Pompe disease is an autosomal recessive genetic disorder characterized by a deficiency of the enzyme responsible for degradation of lysosomal glycogen (acid α-glucosidase (GAA)) | We describe an improved method for detecting deficiency of the acid hydrolase,
alpha-1,4-glucosidase in leukocytes, the enzyme defect in glycogen storage
disease Type II (Pompe disease). The procedure requires smaller volumes of blood
and less time than previous methods. The assay involves the separation of
leukocy... |
Which kinase is inhibited by Tripolin A? | Tripolin A reduced the localization of pAurora A on spindle microtubules (MTs), affected centrosome integrity, spindle formation and length, as well as MT dynamics in interphase, consistent with Aurora A inhibition by RNAi or other specific inhibitors, such as MLN8054 or MLN8237. Interestingly, Tripolin A affected the ... | Mitotic regulators exhibiting gain of function in tumor cells are considered
useful cancer therapeutic targets for the development of small-molecule
inhibitors. The human Aurora kinases are a family of such targets. In this
study, from a panel of 105 potential small-molecule inhibitors, two compounds
Tripolin A and... |
Is the optogenetics tool ChR2 light-sensitive? | Channelrhodospin-2 (ChR2) is a light-sensitive ion channel that has emerged as new optogenetics tool. | Optogenetic technology, also known as optogenetics, is a novel multidisciplinary
field in biotechnology that integrates genetic engineering, electrophysiology,
and optical and electronic engineering. This recently developed technology has
evolved rapidly and generated considerable excitement in neuroscience research... |
Is the Prostate- Specific Antigen (PSA) test relevant only for prostate cancer? | No, although the PSA test can detect high levels of PSA that may indicate the presence of prostate cancer, many other conditions, such as an enlarged or inflamed prostate, can also increase PSA levels. | The aim of the present investigation was the evaluation of cost-effectiveness of
variables used in monitoring patients with inoperable prostate cancer.
Prostate-specific antigen (PSA), prostatic acid phosphatase (PAP), and
radionuclide bone scan were considered. The tumor marker positivity was assessed
according to... |
List symptoms of Hakim Triad. | Triad of Hakim--Adams is well known for normal pressure hydrocephalus (NPH): 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 ... |
Which is the cellular target of gefitinib? | The specific cellular target of Gefitinib (Iressa) is the epidermal growth factor receptor (EGFR). | Gefitinib is a specific inhibitor of the epidermal growth factor receptor (EGFR)
that causes growth delay in cancer cell lines and human tumor xenografts
expressing high levels of EGFR. An understanding of the downstream cellular
targets of gefitinib will allow the discovery of biomarkers for predicting
outcomes an... |
What kind of bonds are connecting keratin molecules? | cystine disulfide bonds
amide bonds
hydrogen bonds | Hair is composed of proteins, lipids, water, and small amounts of trace
elements. All proteins in animal and human bodies are built from permutations of
amino acid molecules in a polypeptide string. The polypeptide chains of protein
keratin are organized into filaments in hair cells. Hair is one of the most
difficu... |
Is autism one of the characteristics of Moebius syndrome? | Moebius syndrome is a rare congenital disorder usually defined as a combination of facial weakness with impairment of ocular abduction. A strong association of Moebius syndrome with autism spectrum disorders (ASDs) has been suggested in early studies with heterogenous age groups. | Fifty-nine cases with infantile autism/autistic disorder were subclassified
according to associated medical condition (fragile-X, tuberous sclerosis,
neurofibromatosis, hypo-melanosis of Ito, Moebius syndrome, Rett syndrome, and a
'new' syndrome associated with a marker chromosome). It was concluded that, even
with... |
Is Sarcolipin a regulatory/inhibitory protein of the Calcium ATPase SERCA? | Sarcolipin (SLN) is a 3 kD membrane protein found in sarcoplasmic reticulum (SR) and it is a newly identified regulator of the sarco/endoplasmic reticulum Ca(2+)-ATPase (Serca) pump. SLN inhibits sarcoplasmic reticulum Ca(2+) ATPase (SERCA) activity and reduces its affinity of Ca(2+), resulting in dysfunction of myoca... | Sarcolipin (SLN) is an inhibitor of sarco(endo)plasmic reticulum Ca(2+)-ATPases
(SERCAs) in vitro, but its function in vivo has not been defined. NF-SLN cDNA
(SLN tagged N-terminally with a FLAG epitope) was introduced into rat soleus
muscle in one hindlimb by plasmid injection and electrotransfer. Western
blotting... |
What is the risk of developing acute myelogenous leukemia in Fanconi anemia? | A review of all of the cases of Fanconi anemia (FA) reported to the International Fanconi Anemia Registry (IFAR) indicates that at least 15% manifest acute myelogenous leukemia (AML) or preleukemia. | We analyzed data from 388 subjects with Fanconi anemia reported to the
International Fanconi Anemia Registry (IFAR). Of those, 332 developed
hematologic abnormalities at a median age of 7 years (range, birth to 31 years).
Actuarial risk of developing hematopoietic abnormalities was 98% (95% confidence
interval, 93%... |
How many different mutations have been associated with Muenke syndrome? | Muenke syndrome, also known as FGFR3-associated coronal synostosis, is defined molecularly by the presence of a heterozygous nucleotide transversion, c.749C>G, encoding the amino acid substitution Pro250Arg, in the fibroblast growth factor receptor type 3 gene (FGFR3). | Muenke syndrome, also known as FGFR3-associated coronal synostosis, is defined
molecularly by the presence of a heterozygous nucleotide transversion, c.749C>G,
encoding the amino acid substitution Pro250Arg, in the fibroblast growth factor
receptor type 3 gene (FGFR3). This frequently occurs as a new mutation,
mani... |
How can the fetal Rhesus be determined with non-invasive testing? | The detection of fetal RhD status can be achieved with the non-invasive method of assessing free fetal DNA in the maternal blood. | OBJECTIVES: To develop a non-invasive method for determining fetal RhD status in
order to provide improved care for women most at risk.
DESIGN: A prospective study.
METHODS: Fetal erythroblasts were enriched from the peripheral circulation of 96
RhD negative women with pregcies at various stages in gestation using
d... |
Which genes have been proposed as potential candidates for gene therapy of heart failure? | There are at least 6 genes which have been proposed as potential candidates of gene therapy in heart failure.
1. Cardiac Sarco-Endoplasmic Reticulum Calcium ATPase 2A (SERCA2A)
2. Inhibitor 1 (I-1) of Protein Phosphatase 1B
3. Protein Phosphatase 1B (PP1B)
4. Yes Associated Protein (YAP)
5. Survivin
6. S100A1 | As a prerequisite for clinical application, we determined the long-term
therapeutic effectiveness and safety of adeno-associated virus (AAV)-S100A1 gene
therapy in a preclinical large animal model of heart failure. S100A1, a positive
inotropic regulator of myocardial contractility, becomes depleted in failing
cardi... |
DX-88 is investigational name of which drug? | DX-88 is investigational name of a drug Ecallantide, a 60-amino acid recombinant protein discovered through phage display technology, that is a highly specific, potent inhibitor of human plasma kallikrein that has been used successfully in the treatment of patients experiencing acute hereditary angioedema attacks. | Deficiency of C1 Inhibitor leads to unopposed activation of complement, with
localized, unpredictable, and sometimes life-threatening attacks of angioedema.
Treatment with plasma-derived C1 Inhibitor rapidly aborts attacks, and may be
lifesaving, but is expensive, requires use of a pooled blood product, may need
to... |
What type of arrhythmia is known as bidirectional ventricular tachycardia (BDVT)? | Bidirectional ventricular tachycardia (BVT), which is characterized by an alternating beat-to-beat ECG QRS axis, is a rare but intriguing arrhythmia associated with digitalis toxicity, familial catecholaminergic polymorphic ventricular tachycardia (CPVT), and several other conditions that predispose cardiac myocytes to... | Electrocardiograms taken from 11 patients in sinus rhythm with ventricular
ectopic rhythms from two different foci were analyzed to find the number of
sinus beats, S, between the ectopic rhythms (S values). Three out of 11 patients
had the S values typical for concealed ectopic rhythms. One of them had
concealed bi... |
Which genes have been found to be associated with restless leg syndrome | Human L-Ferritin
The genotypes of five specific single-nucleotide polymorphisms (SNPs) in three genes
Homozygosity for the T-allele of BTBD9 rs9296249
MEIS1
Intragenic guanosine triphosphate cyclohydrolase-1 duplication
LRRK2 gene mutation | BACKGROUND: Restless legs syndrome (RLS) is a common sensory-motor disorder
characterized by paresthesias and an intense urge to move the legs with a
considerable familial aggregation. To date, no gene mutation has been found, but
five gene loci have been mapped in primary RLS to chromosomes 12q, 14q, 9p, 2q,
and 2... |
Is the circadian clock involved in ribosome biogenesis? | Yes. The circadian clock coordinates ribosome biogenesis. It influences the temporal translation of a subset of mRNAs involved in ribosome biogenesis by controlling the transcription of translation initiation factors as well as the clock-dependent rhythmic activation of signaling pathways involved in their regulation. | |
Can mutations in Calmodulin cause ventricular fibrillation? | Yes, mutations in CALM underly IVF manifesting in childhood and adolescence. | Sodium channels are principal molecular determits responsible for myocardial
conduction and maintece of the cardiac rhythm. Calcium ions (Ca2+) have a
fundamental role in the coupling of cardiac myocyte excitation and contraction,
yet mechanisms whereby intracellular Ca2+ may directly modulate Na channel
function h... |
Do the Sleeping Beauty or the piggyBac transposons have higher transposition efficiency? | Compared with Sleeping Beauty, PiggyBac exhibits higher transposition efficiencies. | In this study, we compared the genomic integration efficiencies and
transposition site preferences of Sleeping Beauty (SB or SB11), Tol2, and
piggyBac (PB) transposon systems in primary T cells derived from peripheral
blood lymphocytes (PBL) and umbilical cord blood (UCB). We found that PB
demonstrated the highest ... |
Where does TORC1 sequester during heat stress? | Upon heat stress, TORC1 is recruited to stress granules. | The target of rapamycin complex 1 (TORC1) is a central kinase that coordinates
nutrient availability with eukaryotic cell growth. Although TORC1 signaling is
repressed by various stresses in yeast, the underlying mechanisms remain
elusive. Here we report that TORC1 signaling upon heat stress is regulated by
stress ... |
Is rivaroxaban metabolized in kidneys? | rivaroxaban undergoes renal metabolism | Rivaroxaban is a novel, oral, direct factor Xa inhibitor for the prevention and
treatment of thromboembolic disorders. The objective of this study was to
investigate the in vivo metabolism and excretion of rivaroxaban in rats, dogs,
and humans. Single doses of [(14)C]rivaroxaban (3 and 1 mg/kg) were administered
to... |
What are the side effects of Nalmefene? | Side effects of nalmefene include nausea, dizziness / lightheadedness, insomina, fatigue, vomiting, reduced caloric intake / apetite, increased self-rated alertness and decreased tiredness. In horses some passage of semifluid fecal material, intermittent penile relaxation, and mild sedation has been described. In some ... | Effects of nalmefene on eating were investigated in two groups of ten male
volunteers, in a double-blind placebo-controlled study. The nalmefene treated
group ate 22% less, both in terms of absolute weight and caloric intake, of a
standardised buffet-meal than did the placebo group. No differences in
subjective rat... |
Is Hirschsprung disease one of the characteristics of the Mowat-Wilson syndrome? | Mowat-Wilson syndrome is characterized by typical facial features, moderate-to-severe mental retardation, epilepsy and variable congenital malformations, including Hirschsprung disease, genital anomalies, congenital heart disease, agenesis of the corpus callosum, and eye defects. | We report a girl who had Hirschsprung disease in association with distinct
facial appearance, microcephaly, agenesis of the corpus callosum and mental
retardation (Mowat-Wilson syndrome). Mutation analysis of the zinc finger homeo
box 1 B (ZFHX1 B) gene revealed a de novo 7 bp deletion (TGGCCCC) at nucleotide
1773 ... |
Which are the most common methods for gene prioritization analysis? | Functional annotation-based approaches and literature-based approaches have been initially used. In recent years, network-based methods - which utilize a knowledge network derived from biological knowledge - have been utilized for gene prioritization. Currently network-based methods are the ones most widely used. | The identification of genes involved in health and disease remains a challenge.
We describe a bioinformatics approach, together with a freely accessible,
interactive and flexible software termed Endeavour, to prioritize candidate
genes underlying biological processes or diseases, based on their similarity to
known ... |
Which is the most common disease attributed to malfunction or absence of primary cilia? | When ciliary function is perturbed, photoreceptors may die, kidney tubules develop cysts, limb digits multiply and brains form improperly. Mice display abnormalities very similar to those of patients with neonatal diabetes and hypothyroidism syndrome, including the development of diabetes and polycystic kidney disease.... | Recent evidence suggests that structural and functional abnormalities of primary
cilia in kidney epithelia are associated with mouse and human autosomal domit
polycystic kidney disease. To determine whether fibrocystin/polyductin/tigmin
(FPC), the protein product encoded by the PKHD1 gene that is responsible for
au... |
What is the usefulness of ultraconserved elements in phylogeny? | Because orthologous UCEs can be obtained from a wide array of taxa, are polymorphic at shallow evolutionary timescales, and can be generated rapidly at low cost, they are an effective genetic marker for studies investigating evolutionary patterns and processes at shallow timescales | Phylogenomics offers the potential to fully resolve the Tree of Life, but
increasing genomic coverage also reveals conflicting evolutionary histories
among genes, demanding new analytical strategies for elucidating a single
history of life. Here, we outline a phylogenomic approach using a novel class of
phylogeneti... |
Treprostinil is an analogue for which prostaglandin? | Treprostinil is a prostaglandin I(2) (PGI(2)) analog. | Primary pulmonary hypertension (PPH) is characterized by increased pulmonary
arterial pressure and vascular resistance. We and others have observed that
inflammatory cytokines and infiltrates are present in the lung tissue, but the
significance is uncertain. Treprostinil (TRE), a prostacyclin analogue with
extended... |
Which are the characteristics of the Meier-Gorlin syndrome? | The Meier-Gorlin syndrome is a rare autosomal recessive disorder, characterized by the association of bilateral microtia, aplasia or hypoplasia of the patellae, and severe pre- and postnatal growth retardation. | The Meier-Gorlin syndrome or ear, patella, short stature syndrome (MIM 224690)
is a rare autosomal recessive disorder, characterized by the association of
bilateral microtia, aplasia/hypoplasia of the patellae, and severe pre- and
postnatal growth retardation. Twenty-one cases have been reported in literature
thus ... |
Which enzyme is deficient in Gaucher's disease? | Gaucher's disease is caused by deficient lysosomal glucocerebrosidase activity | Alglucerase is a mannose-terminated form of human placental glucocerebrosidase,
developed to treat patients with Gaucher's disease. Functional
glucocerebrosidase is deficient in Gaucher's disease, an autosomal recessive
lipid storage disorder that affects people of all ethnic backgrounds, but has a
higher incidence... |
What is the role of Hsp90 inhibition in cancer therapy? | Hsp90 inhibition is followed by G1/S cell cycle arrest, downregulation of key signalling proteins such as IGF-IR, Akt, IKK-α, IKK-β, FOXO1, ERK1/2 and c-Met, and sequestration-mediated inactivation of NF-κB, resulting in disruption of oncogenic signalling integrity, reduced cell proliferation, decline of cell motility,... | For metastatic bladder cancer patients, systemic cisplatin (CDDP)-based
combination chemotherapy is the first-line choice of treatment. Although up to
70% of advanced bladder cancer patients initially show good tumor response to
this form of combination chemotherapy, over 90% of good responders relapse and
eventual... |
Which is the most common type of pediatric cerebellar tumor? | Medulloblastoma is the most common malignant cerebellar tumor seen in the pediatric age group, which has a known ability to metastasize extraneurally. | Medulloblastoma is a maligt cerebellar tumor seen primarily in the pediatric
age group that has a known ability to metastasize extraneurally. The skeleton is
the most common site of extraneural metastases, but metastases to the bone
marrow can also occur. Four cases of medulloblastoma metastatic to the marrow
are r... |
Which is the E3 ubiquitin ligase of Hsp90? | Carboxyl terminus of hsc70-interacting protein (CHIP) can mediate ubiquitination of the 90 kDa heat-shock protein (hsp90) in vitro, with subsequent proteasomal degradation of the chaperone. | The regulation of the aryl hydrocarbon receptor (AhR) protein levels has been an
area of keen interest, given its important role in mediating the cellular
adaptation and toxic response to several environmental pollutants. The carboxyl
terminus of hsc70-interacting protein (CHIP) ubiquitin ligase was previously
asso... |
Which are the major phycobiliproteins present in cyanobacteria? | Phycobiliproteins are derived from the photosynthetic apparatus of cyanobacteria and eukaryotic algae, and form their large extrinsic antenna complexes called phycobilisomes. Phycobilisomes have a core composed from allophycocyanin (APC) and rods, which are of variable phycobiliprotein composition. C-Phycocyanin (C-Pc)... | A survey of marine unicellular cyanobacterial strains for phycobiliproteins with
high phycourobilin (PUB) content led to a detailed investigation of
Synechocystis sp. WH8501. The phycobiliproteins of this strain were purified and
characterized with respect to their bilin composition and attachment sites.
Amino-term... |
Is PLK2 involved in alpha-synuclein phosphorylation in the nervous system? | Polo-like kinase 2 (PLK2) phosphorylates alpha-synuclein at serine 129 in the central nervous system. | α-Synuclein (α-syn) is the major component of pathological inclusions
characteristic of several neurodegenerative disorders, such as Parkinson's
disease. The major posttranslational modification of α-syn is phosphorylation at
S129, and previous studies estimate that approximately 90% of α-syn in
proteinaceous, path... |
In which kingdom do microsporidia belong, according to their current classification scheme? | Traditionally, microsporidia were considered as protozoans, but recently they have been reclassified as the earliest-diverging clade of sequenced fungi. Microsporidia are a diverse group of obligate, intracellular, eukaryotic, spore-forming parasites; they are ubiquitous fungi, with genomes that have undergone a strong... | Microsporidia are obligate intracellular parasites that were thought to be an
ancient eukaryotic lineage based on molecular phylogenies using ribosomal RNA
and translation elongation factors. However, this ancient origin of
microsporidia has been contested recently, as several other molecular
phylogenies suggest th... |
What is the inheritance pattern of Emery-Dreifuss muscular dystrophy? | The inheritance pattern of Emery-Dreifuss muscular dystrophy (EDMD) can be X-linked, autosomal dominant or autosomal recessive. | The authors relate a unique observation of the familial form of proximal
myodystrophy with early contractures and maligt course. The primary character
of muscular injury was confirmed on electromyography. The data of
electrocardiography and echocardiography attested to the presence in the
patients of the signs of c... |
What is the mechanism of action of anticoagulant medication Dabigatran? | Dabigatran is orally administered, reverisble direct and competetive inhibitor of both free and bouded thrombin. | The focus of this review is the evolving field of antithrombotic drug therapy
for stroke prevention in patients with atrial fibrillation (AF). The current
standard of therapy includes warfarin, acenocoumarol and phenprocoumon which
have proven efficacy by reducing stroke by 68% against placebo. However, a
narrow th... |
What is the effect of a defective CLN3 gene? | Mutations in the CLN3 gene, which encodes a lysosomal membrane protein, are responsible for the neurodegenerative disorder juvenile Batten disease. | Batten disease (juvenile-onset neuronal ceroid lipofuscinosis, JNCL), the most
common neurodegenerative disorder of childhood, is caused by mutations in a
recently identified gene ( CLN3 ) localized to chromosome 16p11.2-12.1. To
elucidate the biosynthesis and localization of the CLN3 protein, we expressed
CLN3 cDN... |
Which genes are regulated by TRalpha2 in the heart? | ARB1, ARB2, TAK1, p38, TRalpha1 | Thyroid hormone governs a diverse repertoire of physiological functions through
receptors encoded in the receptor genes alpha and beta, which each generate
variant proteins. In mammals, the alpha gene generates, in addition to the
normal receptor TRalpha1, a non-hormone-binding variant TRalpha2 whose exact
function... |
Is insulin-like growth factor-I (IGF-I) able to affect tendon protein synthesis in classic Ehlers-Danlos syndrome patients? | Tendon protein synthesis rate in classic Ehlers-Danlos patients can be stimulated with insulin-like growth factor-I | The classic form of Ehlers-Danlos syndrome (cEDS) is an inherited connective
tissue disorder, where mutations in type V collagen-encoding genes result in
abnormal collagen fibrils. Thus the cEDS patients have pathological connective
tissue morphology and low stiffness, but the rate of connective tissue protein
turn... |
List available methods for transmembrane protein topology prediction. | HMMpTM, MetaTM, Philius, HMM_RA, HMMTOP, MEMSAT3, HMM-TM, TMHMM, Phobius and SignalP. | The HMMTOP transmembrane topology prediction server predicts both the
localization of helical transmembrane segments and the topology of transmembrane
proteins. Recently, several improvements have been introduced to the original
method. Now, the user is allowed to submit additional information about segment
localiz... |
Does GC content vary markedly within a given isochore? | Isochores are relatively long regions with a relatively homogeneous GC content, and with rather sharp boundaries with neighboring isochores. The base composition, and thus the GC content may differ between different isochores, but is more or less consistent within a given isochore. | The most deviant isochore pattern within mammals was found in rat and mouse;
most other mammals possess a different kind of isochore organization called the
"general pattern." However, isochore patterns remain largely unknown in rodents
other than mouse and rat. To investigate the taxonomic distribution of isochore ... |
Is tubulin acetylation involved in cell motility? | Yes, induction of alpha-tubulin acetylation correlates with inhibition of cell motility, while it is involved in additional cellular processes, e.g. cell cycle progression, differentiation, intracellular trafficking, and signalling. Dynamic microtubule (MT) acetylation/deacetylation mediating cell motility and adhesion... | Cell motility and adhesion involves dynamic microtubule (MT)
acetylation/deacetylation, a process regulated by enzymes as HDAC6, a major
cytoplasmic α-tubulin deacetylase. We identify G protein-coupled receptor kinase
2 (GRK2) as a key novel stimulator of HDAC6. GRK2, which levels inversely
correlate with the exten... |
List available genetic multicolor cell labeling techiniques in Drosophila | Flybow and Drosophila Brainbow. | To facilitate studies of neural network architecture and formation, we generated
three Drosophila melanogaster variants of the mouse Brainbow-2 system, called
Flybow. Sequences encoding different membrane-tethered fluorescent proteins were
arranged in pairs within cassettes flanked by recombination sites. Flybow
co... |
Which growth factors are known to be involved in the induction of EMT? | EMT is characterized by acquisition of cell motility, modifications of cell morphology, and cell dissociation correlating with the loss of desmosomes from the cellular cortex. A number of growth factors have been shown to be involved in this process. These include fibroblast growth factors (FGFs), TGF-β1, TGF-β2, TNF-α... | Transforming growth factors beta (TGF-betas) inhibit growth of epithelial cells
and induce differentiation changes, such as epithelial-mesenchymal transition
(EMT). On the other hand, bone morphogenetic proteins (BMPs) weakly affect
epithelial cell growth and do not induce EMT. Smad4 transmits signals from both
TGF... |
What is the function of the yeast protein Aft1? | The Aft1 transcription factor regulates the iron regulon in response to iron availability in Saccharomyces cerevisiae. Aft1 activates a battery of genes required for iron uptake under iron-starved conditions, whereas Aft1 function is inactivated under iron-replete conditions. Aft1 interacts with the FOB (ferrioxamine ... | Iron deprivation of Saccharomyces cerevisiae induces transcription of genes
required for high-affinity iron uptake. AFT1 mediates this transcriptional
control. In this report, the 5'-flanking region of FET3, which encodes a
copper-dependent oxidase required for iron transport, was analyzed and found to
contain a DN... |
Can PLN mutations lead to dilated cardiomyopathy? | Yes, PLN mutations can lead to dilated cardiomyopathy. | Molecular etiologies of heart failure, an emerging cardiovascular epidemic
affecting 4.7 million Americans and costing 17.8 billion health-care dollars
annually, remain poorly understood. Here we report that an inherited human
dilated cardiomyopathy with refractory congestive heart failure is caused by a
domit Arg ... |
Which is the genetic lesion associated with Huntington’s disease? | The genetic lesion associated with Huntington's disease is a CAG trinucleotide repeat expansion in the HD (or HTT) gene. | Early in 1993, an unstable, expanded trinucleotide repeat in a novel gene of
unknown function was identified on HD chromosomes. This discovery unleased a
flurry of experimentation that has established the expanded CAG repeat the
almost universal cause of the characteristic neurologic symptoms and pathology
of this ... |
Is corpus callosum involved in the Mowat–Wilson syndrome? | Yes, agenesis of the corpus callosum is common patients with Mowat–Wilson syndrome. Other characteristic features of Mowat–Wilson syndrome include typical facial features, moderate-to-severe mental retardation, epilepsy and variable congenital malformations, including Hirschsprung disease, genital anomalies, congenital... | MWS is a multiple congenital anomaly syndrome, first clinically delineated by
Mowat et al in 1998. Over 45 cases have now been reported. All patients have
typical dysmorphic features in association with severe intellectual disability,
and nearly all have microcephaly and seizures. Congenital anomalies, including
Hi... |
Which histone modification discriminates between active and poised enhancers? | Monomethylation of histone H3 on Lys 4 (H3K4me1) and acetylation of histone H3 on Lys 27 (H3K27ac) are histone modifications that are highly enriched over the body of actively transcribed genes and on enhancers. | Developmental programs are controlled by transcription factors and chromatin
regulators, which maintain specific gene expression programs through epigenetic
modification of the genome. These regulatory events at enhancers contribute to
the specific gene expression programs that determine cell state and the
potentia... |
What are the properties of super-enhancers? | Super-enhancers differ from typical enhancers in size, transcription factor density and content, ability to activate transcription, and sensitivity to perturbation. Defined by their magnitude of size, transcription factor density, and binding of transcriptional machinery, super-enhancers have been associated with genes... | Super-enhancers are large clusters of transcriptional enhancers that drive
expression of genes that define cell identity. Improved understanding of the
roles that super-enhancers play in biology would be afforded by knowing the
constellation of factors that constitute these domains and by identifying
super-enhancer... |
What is the inheritance pattern of Li–Fraumeni syndrome? | Li-Fraumeni syndrome shows autosomal dominant inheritance. | Li-Fraumeni syndrome (LFS) is a highly penetrant, autosomal domit, human
familial cancer predisposition. Although a key role for the tumor suppressor p53
has been implicated in LFS, the genetic and cellular mechanisms underpinning
this disease remain unknown. Therefore, modeling LFS in a vertebrate system that
is a... |
Which pituitary adenoma is common cause of infertility is women? | Prolactinoma is a pituitary adenoma that is strongly associated with infertility in women mainly due to increased prolactin secretion causing hyperprolactinemia. Other pituitary lesions can also be associated with infertility. | Two hyperprolactinemic infertile women, one with and one without a pituitary
adenoma, who were resistant to bromocriptine treatment, were treated orally with
Hachimijiogan, a Chinese herbal medicine. This treatment reduced the serum
prolactin level, resulting in a normal ovulatory cycle and pregcy, without
side eff... |
What is the role of mismatched uracil glycosylase (Mug) in DNA repair? | The mismatch-specific uracil DNA glycosylase (MUG) belongs to a homologous family of DNA glycosylases that initiate base-excision repair of G:U/T mismatches. The crystal structure of the Mug repair complex points to a preference of Mug for G:U over G:T mispairs. Nonetheless, Mug does not repair U:G or T:G mismatches in... | G:U mismatches resulting from deamination of cytosine are the most common
promutagenic lesions occurring in DNA. Uracil is removed in a base-excision
repair pathway by uracil DNA-glycosylase (UDG), which excises uracil from both
single- and double-stranded DNA. Recently, a biochemically distinct family of
DNA repai... |
Which are the cardiac effects of thyronamines? | Thyronamines have negative chronotropy, negative inotropy; in particular thyronamines are considered negative inotropic agents | Sulfotransferases (SULTs) catalyze the sulfation of many endogenous compounds
that include monoamine neurotransmitters, such as dopamine (DA), and thyroid
hormones (iodothyronines). Decarboxylation of iodothyronines results in
formation of thyronamines. In the mouse, thyronamines act rapidly in a
nongenomic fashion... |
Matuzumab has been tested for treatment of which cancers? | Matuzumab has been tested for treatment of non-small cell lung, gastric, esophageal, colorectal, primary peritoneal, pancreatic, ovarian and cervical cancers. | Merck KGaA is developing matuzumab, a fully humanized epidermal growth factor
receptor (EGFR)-specific monoclonal antibody, as a potential treatment for
EGFR-bearing tumors. Matuzumab is currently undergoing phase II clinical trials
for gastric, cervical, pancreatic and ovarian cancers. The epidermal growth factor r... |
Which are the synonyms of prostate-specific antigen? | Prostate-specific antigen (PSA) is a 33 kDa single chain glycoprotein belonging to the kallikrein family of serine proteases which is produced by epithelial cells of both normal and malignant prostate tissue. PSA is an important marker for the diagnosis of prostate cancer. PSA is also known as human kallikrein-related ... | Human kallikrein-related peptidase 3 (hK3), also known as prostate-specific
antigen (PSA), is a 33 kDa single chain glycoprotein belonging to the kallikrein
family of serine proteases. With chymotrypsin-like enzymatic activity, hK3 is
directly and indirectly involved in a number of diverse biological functions
incl... |
What is the lipid droplet used for in the cell? | Lipid droplets (LDs) are ubiquitous and physiologically active organelles regulating storage and mobilization of lipids in response to metabolic demands. | Several human worldwide diseases like obesity, type 2 diabetes, hepatic
steatosis, atherosclerosis and other metabolic pathologies are related to the
excessive accumulation of lipids in cells. Lipids accumulate in spherical
cellular inclusions called lipid droplets (LDs) whose sizes range from fraction
to one hundr... |
What is the function of circular RNA? | Circular RNAs (circRNAs) are a novel type of RNA that, unlike linear RNAs, form a covalently closed continuous loop and are highly represented in the eukaryotic transcriptome. The biogenesis of circular RNA is an integral, conserved, and regulated feature of the gene expression program. Circular RNAs play a crucial rol... | We previously identified novel human ets-1 transcripts in which the normal order
of exons is inverted, and demonstrated that although the order of exons is
different than in the genomic DNA, splicing of these exons out of order occurs
in pairs using genuine splice sites (1). Here we determine the structure of
these... |
Can NXY-059 be used for treatment of acute ischemic stroke patients? | No. 2,4-disulfonylphenyl PBN derivative, called NXY-059 in the stroke studies, was shown to be safe in humans and was taken all the way through clinical phase 3 trials and then was deemed to be ineffective. | NXY 059 [CPI 22, NXY 059G], a nitrone with free radical trapping properties, has
potential in the treatment of ischaemic stroke.This profile has been selected
from R&D Insight, a pharmaceutical intelligence database produced by Adis
International Ltd. NXY 059 is based on Centaur Pharmaceuticals' proprietary
Nitrone... |
Is flibanserin effetive for Hypoactive Sexual Desire Disorder? | Yes, flibanserin, a novel serotonin (5-HT)(1A) agonist and 5-HT(2A) antagonist, has been shown to increase sexual desire and reduce distress in women with Hypoactive Sexual Desire Disorder. | INTRODUCTION: Flibanserin, a novel 5-HT(1A) agonist and 5-HT(2A) antagonist, has
the potential to treat sexual dysfunction.
AIM: Provide historical perspective on the rationale for development of
flibanserin to treat sexual dysfunction, based on post hoc analyses of data.
MAIN OUTCOME MEASURES: The Arizona Sexual Exp... |
List available biomedical question answering systems. | We live in an age of access to more information than ever before. The exponential growth in the volume of publications in the biomedical domain has made it impossible for an individual to keep pace with the advances. Thus, there is a need for intelligent information retrieval systems that can summarize relevant and rel... | The Internet is having a profound impact on physicians' medical decision making.
One recent survey of 277 physicians showed that 72% of physicians regularly used
the Internet to research medical information and 51% admitted that information
from web sites influenced their clinical decisions. This paper describes the... |
Which dediodinases are present in kidney? | Type 1 and Type 3 deiodinases are both present in liver | When activated by dithiothreitol, iodothyronine 5'-deiodinase (I-5'D) activity
in kidney microsomes is less sensitive to inhibition by propylthiouracil (PTU)
and iopanoate (IOP) at omolar, compared to micromolar, substrate
concentrations. The enzymatic activities at omolar substrate concentrations
are, however, com... |
What is the presumed key event in Fanconi anemia pathogenesis? | Monoubiquitination of the Fanconi anaemia protein FANCD2 is a key event leading to repair of interstrand cross-links. Failure of FANCD2 monoubiquitination by the nuclear FA protein complex has a severe impact on the DNA repair functions of cells. | Fanconi anemia (FA) is characterized by congenital abnormalities, bone marrow
failure, chromosome fragility, and cancer susceptibility. Eight FA-associated
genes have been identified so far, the products of which function in the FA/BRCA
pathway. A key event in the pathway is the monoubiquitination of the FANCD2
pro... |
What is the effect of Allopurinol on asphyxia in neonates? | Allopurinol was shown in a number of clinical trial to be safe and effective for treatment of neonatal asphyxia. Allopurinol improves short-term and long-term clinical outcomes of neonatal asphyxia. Allopurinol should be administered as soon as possible. Postulated mechanism of allopurinol action in this setting is pr... | OBJECTIVE: Free radical-induced postasphyxial reperfusion injury has been
recognized as an important cause of brain tissue damage. We investigated the
effect of high-dose allopurinol (ALLO; 40 mg/kg), a xanthine-oxidase inhibitor
and free radical scavenger, on free radical status in severely asphyxiated
newborns an... |
Is recommended the use of perioperative treatment with thyroid hormone therapy in patients undergoing coronary artery bypass grafting? | Currently there is no substantial evidence to justify routine use of thyroid hormones in patients undergoing coronary artery bypass grafting. | The treatment of hypothyroidism in patients undergoing coronary artery bypass
surgery is a difficult clinical problem. To determine perioperative thyroid
replacement therapy in patients with hypothyroidism, plasma total thyroxine
(T4), total triiodothyroxine (T3), free T4, free T3 and thyroid-stimulating
hormone le... |
When is the protein NFL a biomarker? | Neurofilament light protein (NFL), may be released into the cerebrospinal fluid (CSF) during pathological processes in the central nervous system (CNS).
Neurofilament light chain is a prognostic biomarker in neurological disorders such as amyotrophic lateral sclerosis, frontotemporal degeneration, axonal injury, late-o... | OBJECTIVE: To determine if CNS-derived proteins present in the CSF of multiple
sclerosis (MS) patients reflect different pathologic processes of MS and if
these proteins could be useful as biologic markers of disease activity.
METHODS: Concentrations of the neurofilament light protein (NFL), glial
fibrillary acidic ... |
Is protein CXCR4 used as a prognostic marker of cancer? | Yes, the chemokine C-X-C motif receptor 4 (CXCR4) has been found to be a prognostic marker in various types of cancer. | INTRODUCTION: Sentinel lymph node (SLN) biopsy is an important independent
prognostic factor for invasive cutaneuos melanoma, although its role is strongly
debated. In clinical practice SLN leads to complete lymph node dissection of
basin draining melanoma site. However only 7-30% of positive sentinel node
patients... |
How does thyroid hormone regulate SR-Ca2+ ATPase (SERCA) protein in the heart? | The thyroid hormone (TH) induced regulation of SERCA is mediated both by non-genomic and genomic actions.
Genomic actions are mediated by the binding of T(3) receptors (TRs) to the thyroid response elements in the SERCA promotor and result in increased gene expression.
Thyroid hormone increases the transcription of ... | Age-associated slowing of cardiac relaxation related to the decline in the Ca2+
pump function of cardiac sarcoplasmic reticulum (SR) has been previously
described. It is unclear if the decreased Ca2+ pump function results from a
lower amount of Ca2(+)-ATPase protein or a decreased pumping activity of the
enzyme. To... |
Which trancription factor activates the betalain pathway? | The beet Y locus encodes an anthocyanin MYB-like protein that activates the betalain red pigment pathway. | Nearly all flowering plants produce red/violet anthocyanin pigments.
Caryophyllales is the only order containing families that replace anthocyanins
with unrelated red and yellow betalain pigments. Close biological correlation of
pigmentation patterns suggested that betalains might be regulated by a conserved
anthoc... |
List common symptoms of patients with the DOORS syndrome. | DOORS syndrome is a constellation of deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures. It is a rare autosomal recessive disorder of unknown cause. | Author information:
(1)Department of Molecular and Human Genetics, Baylor College of Medicine,
Houston, TX, USA.
(2)Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology,
London, UK.
(3)Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA;
Department of Structural and C... |
Which is the most well-accepted method for Down syndrome non-invasive prenatal diagnosis? | Currently, two applications for NIPD of Down syndrome have been developed with potential and have displayed positive results; the NIPD using next-generation sequencing technologies and the NIPD using the methylated DNA immunoprecipitation (MeDIP) real-time quantitative polymerase chain reaction (qPCR). This study exami... | Both intact fetal cells as well as cell-free fetal DNA are present in the
maternal circulation and can be recovered for non-invasive prenatal genetic
diagnosis. Although methods for enrichment and isolation of rare intact fetal
cells have been challenging, diagnosis of fetal chromosomal aneuploidy including
trisomy... |
Is the H3K4me3 histone mark related to transcriptional initiation or elongation? | H3K4me3 is associated with transcriptionally active genes, but its function in the transcription process is still unclear. It is well known to occur in the promoter region of genes for transcription activation but its levels correlate positively with the antisense expression levels of the associated sense genes implyin... | Trimethylation of lysine residue K4 of histone H3 (H3K4me3) strongly correlates
with active promoters for RNA polymerase II-transcribed genes. Several reader
proteins, including the basal transcription factor TFIID, for this nucleosomal
mark have been identified. Its TAF3 subunit specifically binds the H3K4me3 mark ... |
What does polyadenylate-binding protein 4 (PABP4) bind to? | PABP4 binds mRNA poly(A) tails. | Poly(A) binding protein (PABP) binds mRNA poly(A) tails and affects mRNA
stability and translation. We show here that there is little free PABP in NIH3T3
cells, with the vast majority complexed with RNA. We found that PABP in NIH3T3
cytoplasmic lysates and recombit human PABP can bind to AU-rich RNA with high
affin... |
What is the average diameter of intermediate filaments? | Intermediate filaments have an average diameter of 10 nanometers (nm). | The critical concentration required for filament assembly in vitro from highly
purified desmin was determined by both turbidity and centrifugation assays.
Assembly was done in the presence of 2 mM-Ca2+, 2 mM-Mg2+ or 150 mM-Na+ at 2, 22
and 37 degrees C. Similar values for critical concentration were obtained by
bot... |
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