question stringlengths 13 215 | ground_truth stringlengths 2 3.15k | context stringlengths 0 157k |
|---|---|---|
To what extent does HPV vaccination reduce the risk for cervical cancer? | The most effective strategy therein was vaccination of 12-year-olds, plus a temporary 12-24-year-old catch-up program covering both sexes; whereby HPV 6/11/16/18-related cervical cancer, high-grade cervical precancer, and genital wart incidence was reduced by 84-98% during year 50 following vaccine introduction. Vaccin... | Prophylactic HPV vaccination provides an opportunity to profoundly affect
cervical cancer incidence worldwide. The quadrivalent HPV VLP 6, 11, 16, 18
vaccine (Gardasil) and the bivalent HPV VLP 16, 18 vaccine (Cervarix) are
effective for prevention of HPV infection and cervical precancerous lesions. The
quadrivalen... |
Have germline variants been associated to colorectal cancer? | Yes. Whole-genome sequencing (WGS) applied to medical research has revealed how germline variants and mutations may be associated with colorectal cancer. It is likely that this level of knowledge can be translated into predictions of predisposition. | BACKGROUND: The patient with 10 or more adenomas in the colon poses a diagnostic
challenge. Beside germline mutations in the APC and MUTYH genes, only four cases
of mosaic APC mutations have been reported.
AIM: Given the relatively high frequency of de novo APC mutations in familial
adenomatous polyposis (FAP), an i... |
Can Alzheimer's disease related miRNAs be detected in patients' blood? | Yes. It has been demonstrated that blood miRNAs could be useful as biomarkers in Alzheimer's disease. | Various coding genes representing multiple functional categories are
downregulated in blood mononuclear cells (BMC) of patients with sporadic
Alzheimer disease (AD). Noncoding microRNAs (miRNA) regulate gene expression by
degrading messages or inhibiting translation. Using BMC as a paradigm for the
study of systemi... |
Which is the clinical meaning of the presence of delayed enhancement in patients with hypertrophic cardiomyopathy? | Occurrence of myocardial fibrosis in hypertrophic cardiomyopathy is associated with left atrial and ventricular dysfunction as well as with the severity of heart failure symptoms and arrhythmic risk factors. | OBJECTIVES: Our aim was to determine whether myocardial fibrosis, detected by
cardiovascular magnetic resoce (CMR), represents an arrhythmogenic substrate
in hypertrophic cardiomyopathy (HCM).
BACKGROUND: Myocardial fibrosis is identified frequently in HCM; however, the
clinical significance of this finding is uncer... |
What disease is mirtazapine predominantly used for? | Mirtazapine is predominantly used in the treatment of major depression. | Major depression is a serious disease with various systemic effects, including
dysfunction of the immune response. Taurine has been known to be related to
certain modifications of the immune system. The aim of this study was to
determine the taurine concentration in lymphocytes of patients with major
depression and... |
Is it possible to visualize subtahalamic nucleus by using transcranial ultrasound? | Yes, it has been shown that it is possible to visualize subtahalamic nucleus by using transcranial ultrasound. Transcranial ultrasound is safe and reliable method that can be employed to monitor lead location and intraoperative visualization of deep-brain stimulation (DBS) electrodes. | BACKGROUND/AIMS: To evaluate the use of the NeuroMate stereotactic robot with a
novel ultrasound registration system for movement disorder surgery (MDS).
METHODS: Using the robot in a frameless mode, 51 patients underwent MDS.
Surgical planning was carried out using MRI data obtained more than 24 h before
surgery.
R... |
Is cancer related to global DNA hypo or hypermethylation? | DNA hypermethylation and hypomethylation are independent processes and appear to play different roles in tumor progression. Cancer cells are characterized by a generalized disruption of the DNA methylation pattern involving an overall decrease in the level of 5-methylcytosine together with regional hypermethylation of... | NBL2 is a tandem 1.4-kb DNA repeat, whose hypomethylation in hepatocellular
carcinomas was shown previously to be an independent predictor of disease
progression. Here, we examined methylation of all cytosine residues in a 0.2-kb
subregion of NBL2 in ovarian carcinomas, Wilms' tumors, and diverse control
tissues by... |
Do thyroid hormone receptors change after brain injury? | thyroid hormone receptors increase after brain injury | The effect of cerebral ischemia and subsequent recirculation on the nuclear
thyroid hormone receptors was investigated. Ischemia was produced by occlusion
of the right common carotid artery in the Mongolian gerbil. The thyroid hormone
receptors were measured in vitro by a [125I]triiodothyrorine (T3) binding assay
w... |
What is known about efficacy of the high dose intravenous ascorbate in the treatment of cancer patients? | It was reported that ascorbate, given orally and intravenously at doses of up to 10 g/day, was effective in the treatment of cancer. However, double-blind placebo-controlled clinical trials showed no survival advantage when the same doses of ascorbate were given orally, leading the medical and scientific communities to... | In 1975, we reported the remarkable case of a 42-year-old man with
histologically proven widely disseminated reticulum cell sarcoma who, in a
remarkably short time, appeared to enjoy not one, but two, complete spontaneous
regressions of his fatal illness. Both these regressions coincided exactly in
time with intrav... |
Alpha-spectrin and beta-spectrin subunits form parallel or antiparallel heterodimers? | Alpha and beta spectrin subunits form antiparallel spectrin heterodimers by lateral association. | The antiparallel side-to-side association of spectrin alpha and beta monomers is
a two-step process which occurs in seconds even at 0 degrees C and at low
concentrations. Assembly involves initial contact of complementary nucleation
sites on each subunit, which are located near the actin binding end of the long,
fl... |
Is gastro esophageal reflux related to burning mouth syndrome? | No data indicate causal connection between gastro esophageal/laryngopharyngeal(LPR) reflux disease and the occurrence of intraoral burning sensations | 61 patients with symptoms suggestive for gastro-esophageal reflux (GER) disease,
with or without endoscopic evidence of esophagitis, were studied in order to
recognize any neurotic traits connected to GERD and its esophageal motility
disorders. The results were compared with those from a group of patients without
d... |
Which is the protein (antigen) targeted by anti-Vel antibodies in the Vel blood group? | Disruption of SMIM1 causes the Vel- blood type. The protein carrying the Vel blood group antigen was biochemically purified from red blood cell membranes. Mass spectrometry-based de novo peptide sequencing identified this protein to be small integral membrane protein 1 (SMIM1), a previously uncharacterized single-pass ... | BACKGROUND AND OBJECTIVES: A patient experienced a severe haemolytic transfusion
reaction. Neither the haemolytic property nor the specificity of the causative
antibody had been sufficiently recognised when performing a microcolumn gel
test.
MATERIALS AND METHODS: Subsequent to the transfusion reaction, the serologi... |
Which are the subtypes of Pfeiffer syndrome? | Pfeiffer syndrome is divided into three clinical subtypes. | Steven Pfeiffer syndrome pedigrees (three 3 generation and four 2 generation)
have been recorded to date in addition to at least a dozen sporadic cases.
Autosomal domit inheritance with complete penetrance is characteristic of the
7 familial instances. Variable expressivity has involved mostly the presence or
absen... |
Is thrombophilia related to increased risk of miscarriage? | Thrombophilia has been found to be considerably more common in women with pregnancy-associated complications in comparison with the general population, and most frequently in conjunction with venous thromboembolism during pregnancy and the postpartum period. In particular there is an increased risk of pregnancy-related... | Homozygous carriers of factor V Leiden have an approximately 80-fold increased
risk of venous thrombosis. Also double heterozygous carriers of both the factor
V Leiden and the prothrombin gene mutations are at high thrombotic risk. The
magnitude of the risk of venous thrombosis in pregt women with the two severe
th... |
Intact macromolecular assemblies are analysed by advanced mass spectrometry. How large complexes (in molecular weight) have been studied? | 2.3 megadalton | Previous studies have shown that pulmonary surfactant protein D (SP-D) is
composed of a 43-kDa polypeptide with a short NH2-terminal domain, a collagen
sequence, and a COOH-terminal C-type lectin domain. In the present studies,
ultrastructural and biochemical techniques were used to examine the quaternary
structure... |
What is targeted by Palbociclib? | Necitumumab is a fully human IgG(1) monoclonal antibody directed at the epidermal growth factor receptor (EGFR). It is used for treatment of nonsmall cell lung cancer. | PURPOSE: This study aimed to determine a maximum tolerated dose (MTD) and
recommended dose for disease-directed studies of necitumumab (IMC-11F8), a fully
human IgG(1) monoclonal antibody directed at the epidermal growth factor
receptor, and to characterize the safety profile, pharmacokinetics, preliminary
antitumo... |
Which peptide plays a pivotal role in human cystatin C fibrillization? | Human cystatin C (HCC) is a low molecular weight member of the cystatin family (type2). HCC consists of 120 amino acids. Normally it is an inhibitor of cysteine proteases, but in pathological conditions it forms amyloid fibrils in brain arteries of young adults. An 'aggregation-prone' pentapeptide ((47)LQVVR(51)) was l... | Human cystatin C (HCC) is a low molecular weight member of the cystatin family
(type2). HCC consists of 120 amino acids. Normally it is an inhibitor of
cysteine proteases, but in pathological conditions it forms amyloid fibrils in
brain arteries of young adults. An 'aggregation-prone' pentapeptide
((47)LQVVR(51)) w... |
What is ChiRP-seq (Chromatin Isolation by RNA Purification sequencing)? | ChiRP-seq (Chromatin Isolation by RNA Purification sequencing) is a method where tiling oligonucleotides retrieve specific lncRNAs with bound protein and DNA sequences, which are enumerated by deep sequencing. ChIRP-seq of three lncRNAs reveal that RNA occupancy sites in the genome are focal, sequence-specific, and num... | Long noncoding RNAs (lncRNAs) are key regulators of chromatin state, yet the
nature and sites of RNA-chromatin interaction are mostly unknown. Here we
introduce Chromatin Isolation by RNA Purification (ChIRP), where tiling
oligonucleotides retrieve specific lncRNAs with bound protein and DNA sequences,
which are en... |
What is the use of MammaPrint and Oncotype DX? | The MammaPrint and Oncotype DX assays are used to predict breast cancer recurrence risk and guide adjuvant chemotherapy decisions. | Recently emerging diagnostic tools such as MammaPrint and oncotype-DX are
beginning to have impact on clinical practice of breast cancer. They are based
on gene expression profiling, i.e., gene expression analysis of a large number
of genes. Their unique characteristic is the use of a score calculated from
expressi... |
Does nifedipine inhibit L-type calcium channels? | Yes, nifedipine is a typical blocker of L-type calcium channels. | We have investigated the participation of the N-type (omega-conotoxin
GVIA-sensitive) and L-type (nifedipine-sensitive) calcium channels in the alpha
2-adrenoceptor mediated autoinhibition of the release of [3H]noradrenaline from
chick sympathetic neurons in culture. Blockade of 3,4-diaminopyridine-sensitive
potass... |
Is there any data to suggest that TRH (thyrotropin releasing hormone) administration can improve symptom severity of amyotrophic lateral sclerosis patients? | Yes, there are studies demonstrating that TRH (thyrotropin releasing hormone) administration can improve symptom severity of amyotrophic lateral sclerosis patients. However, some studies have failed to demonstrate symptom improvement following TRH administration. | We have studied effects of TRH analogue, TA-0910
(3-methyl-(s)-5,6-dihydroorotyl-L-histidyl-L-prolinamide) (from Tanabe, Osaka,
Japan) on explanted ventral and dorsal spinal cord cultures from 13- and
14-day-old rat embryos. TA-0910-treated cultures had significantly increased
neurite outgrowth with cultures of ven... |
How can DUF families be deciphered? | The genome projects have unearthed an enormous diversity of genes of unknown function that are still awaiting biological and biochemical characterization. These genes, as most others, can be grouped into families based on sequence similarity. The PFAM database currently contains over 2,200 such families, referred to as... | The carbohydrate active enzyme (CAZy) database is an invaluable resource for
glycobiology and currently contains 45 glycosyltransferase families that are
represented in plants. Glycosyltransferases (GTs) have many functions in plants,
but the majority are likely to be involved in biosynthesis of polysaccharides
and... |
Which genes does thyroid hormone receptor beta1 regulate in the heart? | β-MHC, HCN4, KCND2/3, SERCA, TRbeta1, alpha-MHC | Physiological and pathological cardiac hypertrophy have directionally opposite
changes in transcription of thyroid hormone (TH)-responsive genes, including
alpha- and beta-myosin heavy chain (MyHC) and sarcoplasmic reticulum
Ca(2+)-ATPase (SERCA), and TH treatment can reverse molecular and functional
abnormalities ... |
Can siRNA affect response to afatinib treatment? | When afatinib was combined with an EGFR-specific siRNA there was a strong biological effect on growth inhibition and induction of apoptosis. | BACKGROUND: The epidermal growth factor receptor (EGFR) is a validated
therapeutic target in non-small cell lung cancer (NSCLC). However, current
single agent receptor targeting does not achieve a maximal therapeutic effect,
and some mutations confer resistance to current available agents. In the current
study we h... |
What is the gold standard treatment for Iatrogenic male incontinence? | The artificial urethral sphincter has represented, until today, the gold standard but, in the recent years, sling systems have been investigated as minimally invasive alternative options. | OBJECTIVES: To evaluate retrospectively the objective and subjective parameters
in 42 male patients who underwent bone anchored sub-urethral sling positioning
(BAUS) for SUI (stress urinary incontinence) due to ISD (intrinsic sphincter
deficiency).
METHODS: Patients with SUI due to radical retropubic prostatectomy (... |
Which is the main CHEK2 genetic variant, thought to be involved in familial breast cancer? | CHEK2 1100delC mutation is recurrently detected in the general population and is thought to confer a moderate risk for breast cancer. | We recently reported that a sequence variant in the cell-cycle-checkpoint kinase
CHEK2 (CHEK2 1100delC) is a low-penetrance breast cancer-susceptibility allele
in noncarriers of BRCA1 or BRCA2 mutations. To investigate whether other CHEK2
variants confer susceptibility to breast cancer, we screened the full CHEK2
c... |
Is there an association between presenteeism and depression? | Yes. Presenteeism is associated with depression. Remission of depression is associated with improvement of presenteeism. | OBJECTIVE: The relationship of depressive symptoms, satisfaction with health
care, and 2-year work outcomes was examined in a national cohort of employees.
METHOD: A total of 6,239 employees of three corporations completed surveys on
health and satisfaction with health care in 1993 and 1995. This study used
bivariat... |
Which hormone abnormalities are common in Williams syndrome | Elevated Thyrotropin - TSH
Low FT4
Growth Hormone deficiency
Calcitonin deficiency
Elevated Prolactin
Elevated Cortisol
Elevated Oxytocin
Elevated Vasopressin | We have investigated the possibility of mutations in the calcitonin/calcitonin
gene related peptide (CGRP) gene in children with Williams syndrome. Involvement
of the calcitonin/CGRP gene in Williams syndrome is postulated on the basis that
Williams syndrome children often have infantile hypercalcemia and deficient ... |
What is the treatment of choice for gastric lymphoma? | The treatment of choice for localized primary GI lymphoma is controversial. Complete surgical resection may increase the chance of complete remission, but mortality and relapse rates might be higher than those observed with combination chemotherapy alone.
In early stages of disease, H. pylori eradication alone may lead... | A review of 52 patients with gastric lymphoma at the Texas A&M University
College of Medicine Affiliated Scott and White Memorial Hospital (Temple, TX).
was performed to determine the influence of different treatment modalities.
Thirty-one patients had a potentially curative resection, while 21 underwent a
palliati... |
Which assays can be used for detecting DNA fragmentation resulting from programmed cell death (apoptosis)? | The biochemical hallmark of apoptosis is internucleosomal DNA cleavage into oligonucleosome-length fragments. Measurement of apoptosis-associated internucleosomal DNA fragmentation through determination of the percentage of fragmented DNA by electrophoresis or centrifugation of whole cell lysates is by far the most com... | The ability of glucocorticoids to induce apoptosis or programmed cell death in
mouse thymocytes is well-established. Measurement of apoptosis-associated
internucleosomal DNA fragmentation through determination of the percentage of
fragmented DNA by electrophoresis or centrifugation of whole cell lysates is by
far t... |
Does triiodothyronine stimulate red blood cell sodium potassium pump? | An inverse correlation between this enzymatic action and free triiodothyronine (FT3) levels.
The effect of triiodothyronine (T3) on Na+,K(+)-ATPase activity in red blood cells may be different in vivo and in vitro. | The effect of triiodothyronine (T3) on Na+,K(+)-ATPase activity of K562 human
erythroleukemic cell was studied to understand why the erythrocyte sodium pump
activity is decreased in hyperthyroidism. Na+,K(+)-ATPase activity of K562 cell
lysates was assayed by measuring the release of inorganic phosphate (Pi) from
A... |
Which hormone concentrations are altered in patients with the Allan–Herndon–Dudley syndrome? | Thyroid hormone concentrations are altered in patients with the Allan-Herndon-Dudley syndrome. In particular, high serum T3 levels and low-normal to low T4 serum levels are common in the Allan-Herndon-Dudley syndrome. It is, an X linked condition, is characterized by severe intellectual disability, dysarthria, athetoid... | Allan-Herndon-Dudley syndrome was among the first of the X-linked mental
retardation syndromes to be described (in 1944) and among the first to be
regionally mapped on the X chromosome (in 1990). Six large families with the
syndrome have been identified, and linkage studies have placed the gene locus in
Xq13.2. Mut... |
Is selumetinib effective in thyroid cancer? | Yes, selumetinib was shown to be effective treatment for thyroid cancer. Selumetinib may reverse radioiodine uptake in patients with radioiodine-refractory differentiated thyroid cancer. Clinical efficacy of selumetinib was also investigated in other solid tumors. | Over the past 5 years, patients with progressive radioactive iodine-refractory
thyroid cancer have responded to "targeted" multikinase inhibitors, which
inhibit angiogenesis and not the tumor cell. Here, selumetinib targets the
mitogen-activated protein kinase pathway in papillary thyroid carcinoma and
shows limite... |
Where in the cell does the proteins S100A4 and p53 interact ? | S100A4 interacts with p53 in the cell nucleus. | A physical and functional interaction between the Ca(2+)-binding protein Mts1
(S100A4) and the tumor suppressor p53 protein is shown here for the first time.
We demonstrate that Mts1 binds to the extreme end of the C-terminal regulatory
domain of p53 by several in vitro and in vivo approaches:
co-immunoprecipitatio... |
What are the applications of a Dermaroller ? | Microneedling with dermaroller is a new treatment modality for the treatment of scars, especially acne scars, stretch marks, wrinkles, and for facial rejuvenation. It is a simple and relatively cheap modality that also can be used for transdermal drug delivery.
Microneedling is a safe and a promising tool in hair stimu... | |
Are immune cells affected in Amyotrophic Lateral Sclerosis? | In ALS T-cell deficiency increases neuronal loss, while boosting T cell levels reduces it. | The intrathymic injection of donor spleen cells into antilymphocyte serum
(ALS)-treated mice induces significant prolongation of donor skin grafts. The
intrathymic route of antigen presentation in this model is superior to the
intravenous route in achieving unresponsiveness. To elucidate possible
mechanisms involve... |
Are OATP1B1 and OATP1B3 associated with bilirubin transport? | Yes, OATP1B1 and OATP1B3 are involved in the transport of bilirubin. | OATP1B1 (a.k.a. OATP-C, OATP2, LST-1, or SLC21A6) is a liver-specific organic
anion uptake transporter and has been shown to be a higher affinity bilirubin
uptake transporter than OATP1B3. Using human embryonic kidney (HEK 293) cells
stably transfected with OATP1B1, we have studied the effects of indinavir,
saquina... |
What is the mechanism of action of eprotirome? | Eprotirome belongs to thyromimetics and has selective TRβ1 activity. It has shown to be effective in dyslipidemia by the lipid-lowering action of TH in the liver and also in obesity. | BACKGROUND: Dyslipidemia increases the risk of atherosclerotic cardiovascular
disease and is incompletely reversed by statin therapy alone in many patients.
Thyroid hormone lowers levels of serum low-density lipoprotein (LDL) cholesterol
and has other potentially favorable actions on lipoprotein metabolism.
Consequ... |
What is the role of music therapy in coma patients. | Several studies have shown that music can boost cognitive functions in patients with a disorder of consciousness but it is difficult to conclude since they did not use quantified measures and a control condition/group. Active improvised music therapy may offer an adjuvant form of treatment in the early rehabilitation o... | Both from a theoretical perspective and by means of several case examples, the
article focuses on the issue of overcoming the disturbed pre-verbal
communication behaviour presented by patients in the early stage following
severe craniocerebral trauma. In patients with brain lesion, a pre-verbal,
emotionally-focusse... |
Which is the causative agent of malaria? | Four Plasmodium species commonly infect humans (Plasmodium falciparum, Plasmodium vivax, Plasmodium malariae and Plasmodium ovale). Plasmodium falciparum infects about 5-10% of the world human population per year and it is the causative agent of the most severe and lethal form of malaria. P. falciparum causes fatal ce... | Several species of Plasmodium have been shown to contain a circular
extrachromosomal DNA molecule which is widely supposed to be mitochondrial DNA.
However, it has recently been shown to have a number of features in common with
chloroplast DNA. Here, a phylogenetic analysis of RNA polymerase coding
sequences from t... |
What is the major adverse effect of adriamycin(doxorubicin)? | Cardiac toxicity is a major adverse effect caused by doxorubicin (DOX) therapy | A phase II multicenter clinical study of epirubicin, a new anthracycline
anticancer agent, was carried out in 46 patients with advanced breast cancer.
The treatment schedule consisted of either 60 mg/m2 every three weeks or 40 to
50 mg/m2 on day 1 and day 8 every four weeks. Objective responses were observed
in 23.... |
What is GDF10? | The growth/differentiation factor-10 (GDF-10) is a new member of the transforming growth factor-beta (TGF-beta) superfamily. It is highly related to bone morphogenetic protein-3 (BMP-3) and often referred to as BMP3b. The nucleotide sequence of GDF-10 encodes a predicted protein of 476 amino acids with a molecular weig... | BMP-3b (also termed GDF-10) is a novel BMP-3 related protein recently discovered
in rat femur tissue by molecular cloning. In this paper, we have isolated cDNA
and the gene for human BMP-3b and determined their structure. Cloned human
BMP-3b cDNA with a size of 2632 base pairs encodes a 478 amino acid precursor
pro... |
Is thyroid hormone therapy indicated in patients with heart failure? | There are several experimental and clinical evidences of the potential benefits of Thyroid hormone replacement therapy in heart failure. Initial clinical data showed also a good safety profile and tolerance of TH replacement therapy in patients withheart failure.
However currently there is no indication to treat patie... | The effects of spontaneous and experimentally induced congestive heart failure
on serum thyroxine (T4), 3,5,3'-triiodothyronine (T3), 3,3'5'-triiodothyronine
(reverse T3), free T4, free T3 concentrations, and the serum T4 and T3
concentrations in response to administration of thyrotropin were studied. Serum
thyroid... |
Is there a mouse model for Fanconi anemia? | A number of mouse models have already been generated with a targeted disruption of several Fanconi anemia genes, such as FANCA, FANCF, FANCM, FANCD1, etc. | Despite the cloning of four disease-associated genes for Fanconi anemia (FA),
the molecular pathogenesis of FA remains largely unknown. To study FA
complementation group A using the mouse as a model system, we cloned and
characterized the mouse homolog of the human FANCA cDNA. The mouse cDNA (Fanca)
encodes a 161-k... |
Could Hyperthermic intraperitoneal chemotherapy (HIPEC) be effective for the treatment of recurrent ovarian cancer? | There is level-one evidence suggesting the benefit of postoperative adjuvant intraperitoneal chemotherapy for patients with advanced ovarian cancer after cytoreductive surgery, albeit catheter-related complications resulted after treatment discontinuation. Studies report the use of HIPEC predominantly in the setting of... | OBJECTIVES: To assess feasibility, complications and efficacy of secondary
surgical cytoreduction (CRS) and hyperthermic intraperitoneal chemotherapy
(HIPEC) in a selected group of platinum-sensitive recurrent ovarian cancer
patients.
METHODS: Recurrent ovarian cancer patients with a platinum-free interval of at
le... |
Which is the most common editing modification in eukaryotic mRNA? | One of the most common forms of pre-mRNA editing is A-to-I editing, in which adenosine is deaminated to inosine, which is read as guanosine during translation. | RNA editing is a post-transcriptional modification of pre-mRNA that results in
increased diversity in transcriptomes and proteomes. It occurs in a wide variety
of eukaryotic organisms and in some viruses. One of the most common forms of
pre-mRNA editing is A-to-I editing, in which adenosine is deaminated to inosine,... |
Is Rac1 involved in cancer cell invasion? | A number of signalling pathways have been found to converge to and activate Rac1, which, in turn, activates a number of downstream targets to control actin-cytoskeleton rearrangements at membrane ruffles, as well as formation and activity of lamellipodia, to regulate the migratory processes leading to cell invasion. | INTRODUCTION: The metastatic progression of cancer is a direct result of the
disregulation of numerous cellular signaling pathways, including those
associated with adhesion, migration, and invasion. Members of the Rac family of
small GTPases are known to act as regulators of actin cytoskeletal structures
and strong... |
Which are the APOBEC3 protein family members able to inhibit Vif-deficient HIV-1 replication? | APOBEC3G, APOBEC3F, APOBEC3DE, APOBEC3A, and APOBEC3H haplotypes II, V, and VII, provide protection against Vif-deficient HIV-1, through hypermutation of the viral genome, inhibition of reverse transcription, and inhibition of viral DNA integration into the host genome. | In the human genome the apolipoprotein B mRNA-editing enzyme catalytic
polypeptide (APOBEC)3 gene has expanded into a tandem array of genes termed
APOBEC3A-G. Two members of this family, APOBEC3G and APOBEC3F, have been found
to have potent activity against virion infectivity factor deficient (Deltavif)
human immun... |
Is the gene SLC6A2 associated with orthostatic intolerance? | Yes, variants of the SLC6A2 (or NET) gene are associated with orthostatic intolerance. | Orthostatic intolerance (OI) or postural tachycardia syndrome (POTS) is a
syndrome primarily affecting young females, and is characterized by
lightheadedness, palpitations, fatigue, altered mentation, and syncope primarily
occurring with upright posture and being relieved by lying down. There is
typically tachycard... |
Other than protein coding potential, what features set apart long non-coding RNAs from protein coding genes? | Compared to protein coding genes, long non-coding RNAs (lncRNAs) display a bias towards two-exon transcripts. They are predominantly localized in the chromatin and nucleous. They are lower expressed and display a more tissue-specific expression pattern. LncRNAs are overall more weakly conserved than protein coding gene... | Long transcripts that do not encode protein have only rarely been the subject of
experimental scrutiny. Presumably, this is owing to the current lack of evidence
of their functionality, thereby leaving an impression that, instead, they
represent "transcriptional noise." Here, we describe an analysis of 3122 long
an... |
Is macitentan an ET agonist? | No, macitentan is anendothelin receptor antagonist. | Macitentan, also called Actelion-1 or ACT-064992
[N-[5-(4-bromophenyl)-6-(2-(5-bromopyrimidin-2-yloxy)ethoxy)-pyrimidin-4-yl]-N'-propylaminosulfonamide],
is a new dual ET(A)/ET(B) endothelin (ET) receptor antagonist designed for
tissue targeting. Selection of macitentan was based on inhibitory potency on
both ET re... |
Can we use platelet biomarkers to study Alzheimer's disease? | Yes, platelet biomarkers can be used to study Alzheimer's disease. | Platelets play a fundamental role in hemostasis. Because they do not have a
nucleus, proteomics is an ideal way to approach their biochemistry. Platelet
proteomics is still a young field that emerged a decade ago. Initial platelet
proteomic research focused on general proteome mapping followed by the
exploration of... |
Which genetic defects are observed in Prader-Willi syndrome? | The predominant genetic defects in Prader-Willi syndrome are 15q11-13 deletions of paternal origin and maternal chromosome 15 uniparental disomy, or rare imprinting mutations, combined with monoallelic expression of the paternal alleles. | The genetic defects in Prader-Willi syndrome (PWS) and Angelman syndrome (AS)
map to 15q11-13. Using microdissection, we have recently isolated several DNA
probes for the critical region. Here we report that microclone MN7 detects
multiple loci in 15q11-13 and 16p11.2. Eight yeast artificial chromosome (YAC)
clones... |
What is the most likely age of diagnosis of Crohn's disease (CD)? | Crohn's disease has a bimodal age distribution of disease onset diagnosis. The peaks (20 and 50 years) may represent different phenotypes or different genetic and/or environmental influences between younger- and older-onset individuals. When the age-related incidence of Crohn's disease was plotted for all countries fro... | BACKGROUND: Our objectives were to assess the differences in perforating disease
behavior, disease severity, and extraintestinal manifestations (EIM) in patients
with Crohn's disease (CD) by race.
MATERIALS AND METHODS: We identified outpatients with CD evaluated at the
University of Maryland Gastroenterology Facult... |
How does thyroid hormone affect insulin resistance in the heart? | T3 potentiates insulin signaling and improves insulin sensitivity. In addition, T3 lowers blood glucose in a model of type 2 diabetes. TRalpha P398H mutation is associated with insulin resistance. Circulating T(1)AM is produced from thyroid hormones and is found to be increased in diabetic patients. | Thyroid hormone has profound effects on metabolic homeostasis, regulating both
lipogenesis and lipolysis, primarily by modulating adrenergic activity. We
generated mice with a point mutation in the thyroid hormone receptor alpha
(TRalpha) gene producing a domit-negative TRalpha mutant receptor with a
proline to his... |
Which are the state-of-the-art computational tools for the prediction of gene fusion events? | Gene fusion detection - also known as the 'Rosetta Stone' method - involves the identification of fused composite genes in a set of reference genomes, which indicates potential interactions between its un-fused counterpart genes in query genomes. A few methods/tools and computational pipelines for the detection of gene... | A large-scale effort to measure, detect and analyse protein-protein interactions
using experimental methods is under way. These include biochemistry such as
co-immunoprecipitation or crosslinking, molecular biology such as the two-hybrid
system or phage display, and genetics such as unlinked noncomplementing mutant ... |
Is CHEK2 involved in cell cycle control? | CHEK2 is a key cell cycle control gene encoding a pluripotent kinase that can cause arrest or apoptosis in response to unrepaired DNA damage. | Checkpoint kinase 2 (hCHK2/hCds1) is a tumor suppressor gene involved in
cell-cycle control. A hCHK2/hCds1 polymorphism in codon 84 (A-->G at nucleotide
252) was recently identified in Li-Fraumeni syndrome patients. Because cell
cycle regulates DNA repair that is associated with cancer risk, we hypothesized
that th... |
Describe mechanism of action of PLX3397 drug. | PLX3397 works by inhibiting colony-stimulating-factor-1 receptor (CSF1R). | PURPOSE: Gastrointestinal stromal tumor (GIST) is the most common human sarcoma
and a model of targeted molecular therapy. GIST depends on oncogenic KIT
signaling and responds to the tyrosine kinase inhibitor imatinib. However,
imatinib is rarely curative. We hypothesized that PLX3397, which inhibits KIT
and colony... |
What disease is small bowel lymphoma commonly associated with | Small bowel lymphoma is commonly associated with celiac disease. | An increased incidence of small bowel lymphoma in patients with long-standing
celiac sprue is well documented in the literature. Less common is the
association of adenocarcinoma of the small intestine. We report a patient with
celiac sprue who initially responded to a gluten-free diet. Eighteen months
later, diarrh... |
Are the proteins Erbin (LAP2) and Merlin cooperating? | Yes, Erbin and Merlin are cooperating. | Biallelic mutations in the neurofibromatosis 2 (NF2) gene are linked to
schwannoma and meningioma tumorigenesis. Cells with NF2 mutations exhibit
elevated levels of phosphorylated extracellular signal-regulated kinase (ERK)
and aberrant cell-cell and cell-matrix contacts. The NF2 gene product, merlin,
associates wi... |
Which molecule is targeted by a monoclonal antibody Secukinumab? | Secukinumab (AIN457) is a fully human anti-interleukin-17A monoclonal antibody that neutralizes interleukin-17A. | Conflict of interest statement: Competing interests Dr Wolfgang Hueber is an
employee of Novartis Pharma and owns shares; Dr Bruce E Sands received
consulting fees for service on a scientific advisory board for Abbott
Immunology, Avaxia Biologics, Bristol-Myers Squibb, Elan Pharmaceuticals, Glaxo
SmithKline Welcome... |
Which calcium/calmodulin dependent protein phosphatase is involved in the activation of the family of NFAT transcription factors (Nuclear Factors of Activated T cells)? | The activity of NFAT proteins is tightly regulated by the Ca(2+)/calmodulin-dependent protein phosphatase 2B/calcineurin (CaN).Dephosphorylation of NFAT by CaN is required for NFAT nuclear localization. | The nuclear factor of activated T cells (NFAT) group of transcription factors is
retained in the cytoplasm of quiescent cells. NFAT activation is mediated in
part by induced nuclear import. This process requires calcium-dependent
dephosphorylation of NFAT caused by the phosphatase calcineurin. The c-Jun
amino-termi... |
Is abdominal pain a common symptom in autism? | Yes, although there are no precise data. There is data that Lactase deficiency, not associated with intestinal inflammation or injury, is common in autistic children and may contribute to abdominal discomfort, pain and observed aberrant behavior. | The purpose of this study was to estimate the prevalence of chronic
gastrointestinal symptoms in a general population of children with autism or
autistic spectrum disorder (ASD). The study site was a clinic specializing in
ASD in a large pediatric medical center serving a 10 county area in the
midwestern USA. In a ... |
Are cyclophilins ubiquitously expressed? | Yes, cyps (cyclophilins) are ubiquitous proteins of the immunophilin superfamily. | Cyclophilins belong to the family of peptidyl-prolyl cis/trans isomerases
(PPIases), which are ubiquitous and highly conserved enzymes capable of
cis/trans isomerizing Xaa-Pro peptide bonds. Members of the CyP40-type
cyclophilins have originally been described as components of hormone receptor
complexes. Here, we d... |
Are adenylyl cyclases always transmembrane proteins? | Adenylyl cyclases exists both as transmembrane and soluble proteins. | Soluble adenylyl cyclase (sAC) is a recently recognized source of the signaling
molecule cyclic AMP (cAMP) that is genetically and biochemically distinct from
the classic G-protein-regulated transmembrane adenylyl cyclases (tmACs).
Mammalian sAC is distributed throughout the cytoplasm and it may be present in
the n... |
What histone trimethylation has been associated to RNA splicing? | Mostly H3K36me3 but there is some evidence that H3K4me3 may also play a role in splicing | Trimethylation of histone H3 on lysine 4 (H3K4me3) localizes near the 5' region
of genes and is tightly associated with active loci. Several proteins, such as
CHD1, BPTF, JMJD2A, and the ING tumor suppressor family, directly recognize this
lysine methyl mark. However, how H3K4me3 recognition participates in active
... |
What was the purpose of the FANTOM4 project? | The international Functional Annotation Of the Mammalian Genomes 4 (FANTOM4) research collaboration set out to better understand the transcriptional network that regulates macrophage differentiation and to uncover novel components of the transcriptome employing a series of high-throughput experiments. | |
Does low T3 negatively affect prognosis of patients after cardiac surgery? | Low cardiac output syndrome after cardiac surgery for congenital heart diseases is associated with decreased T3
Low T3 concentrations are associated with occurrence of post operative atrial fibrillation
Low T3 concentrations are inversely correlated with the days of post operative hospitalization | A significant reduction in plasma free triiodothyronine (T3) (P less than
0.0001) has been observed in patients undergoing open heart surgery. The
beneficial effect of T3 would appear to be associated with increased synthesis
and utilization of myocardial high energy stores. We have therefore administered
T3 (4-10 ... |
Which deficiency is the cause of restless leg syndrome | Iron deficiency (low serum ferritin) is a recognized cause for RLS. Further, in the striatum of subjects with restless legs syndrome, the dopamine transporter is decreased, which leads to impaired dopaminergic neurotransmission. There is also a report of magnesium deficiency underlying RLS. | INTRODUCTION: The restless legs syndrome is characterized by an unpleasant
sensation in the legs which causes an imperative need to move the legs and is
therefore considered to be a disorder of movement. When it appears before going
to sleep, it may interfere with falling asleep and lead to a sleep-deficit.
DEVELOPM... |
List the results of mutated casein kinase 1 epsilon. | Mutation in casein kinase 1 epsilon results in a short circadian period, abnormal entrainment to light cycles, and potentiated resetting responses to light.
Mutations of CK1epsilon found in breast cancer can suppress Wnt/beta-catenin as well as promote the Wnt/Rac-1/JNK and Wnt/NFAT pathways, thus contributing to breas... | The vertebrate circadian clock was thought to be highly localized to specific
anatomical structures: the mammalian suprachiasmatic nucleus (SCN), and the
retina and pineal gland in lower vertebrates. However, recent findings in the
zebrafish, rat and in cultured cells have suggested that the vertebrate
circadian ti... |
Does neuroglobin has neuroprotective properties in the setting of traumatic brain injury? | Yes, neuroglobin has neuroprotective properties in the setting of traumatic brain injury. | Neuroglobin has shown rich neuroprotective effects against cerebral hypoxia, and
therefore has the potential to impact outcomes after traumatic brain injury
(TBI). However, to date an association between genetic variation within the
human neuroglobin (NGB) gene and recovery post-TBI has not been reported. The
purpo... |
What gene test is recommended for clopidogrel? | The genetic test recommended for clopidogrel is CYP2C19 genotyping. | OBJECTIVES: The aim of this study was to evaluate the effect of polymorphisms
affecting the clopidogrel metabolism (CYP3A4 IVS10+12G/A and CYP2C19*2) and the
P2Y12 receptor (P2Y12 T744C) on modulating platelet function in acute coronary
syndrome patients on dual antiplatelet treatment.
BACKGROUND: Residual platelet ... |
What is the role of eteplirsen in DMD patients? | AVI-4658(eteplirsen) induces skipping of dystrophin exon 51 in patients with relevant deletions, restores the open reading frame and induces dystrophin protein expression after intramuscular (i.m.) injection. | We previously conducted a proof of principle; dose escalation study in Duchenne
muscular dystrophy (DMD) patients using the morpholino splice-switching
oligonucleotide AVI-4658 (eteplirsen) that induces skipping of dystrophin exon
51 in patients with relevant deletions, restores the open reading frame and
induces d... |
Describe clinical presentation of Parkinsonism with dementia of Guadeloupe syndrome. | Parkinsonism with dementia of Guadeloupe is a unique combination of levodopa-resistant parkinsonism, tremor, myoclonus, hallucinations, REM sleep behavior disorder and fronto-subcortical dementia. Based on the presence or the absence of supranuclear gaze palsy, two subgroups of patients can be distinguished. | Steele, Richardson and Olszweski in 1964 described a distinctive clinical and
pathological entity they called progressive supranuclear palsy (PSP). Now on
Guadeloupe in the Carribbean French West Indies, Caparros-Lefebvre is
identifying many patients with similar clinical and histological features.
Others have a cl... |
Does the concentration of protein HIF-1α increase after the administration of the cytoprotective prodrug"amifostine" (ethyol) ? | The key-protein that when associated with HREs leads to the activation of all of these genes, is identified as“Hypoxia Inducible Factor-1” (HIF1). It is a heterodimer composed of two subunits (IIF1a 120kDa and HIF-1b 91-94kDa), both of which belong to the group of "basic helix-loop-helix" (bHLH)-Pas proteins. The heter... | PURPOSE: The cytoprotective mechanism of amifostine (WR-2721) implies free
radical scavenging and DNA repair activities. We investigated additional
cytoprotective pathways involving intracellular hypoxia and the activation of
the hypoxia-inducible factor (HIF) pathway, a key transcription factor
regulating glycolys... |
Which diseases can Oncotype DX be used for? | Oncotype can be used for predicting breast cancer and colon cancer recurrence. | Advances in molecular genetics aimed at individualizing breast cancer treatment
have been validated. We examined the use of gene assays predictive of distant
recurrence in breast cancer and their impact on adjuvant treatment. A
retrospective chart review of 58 T1/T2, node-negative, estrogen-receptor
positive breast... |
Which are the DNA (cytosine-5-)-methyltransferases inhibitors? | DNA (Cytosine-5-)-methyltransferases are a family of enzymes that methylate DNA at the C5 position of cytosine residues. Given that methylation of tumour suppressor gene promoters leads to carcinogenesis, inhibition of DNA (Cytosine-5-)-methyltransferases is a promising strategy for the treatment of cancer. There are s... | The mechanism of inhibition of DNA (cytosine-5-)-methyltransferases by the
mechanism-based inhibitor 5-azacytosine has remained unclear, mainly because of
the unavailability of a substrate in which the inhibitor, but not normal
cytosine, is present at the target site. We synthesized an oligonucleotide
duplex contai... |
Describe armoured brain syndrome. | Armoured brain syndrome is defined by calcified chronic subdural haematoma. | Calcification of chronic subdural haematoma is called "armoured brain" when it
covers most of the cortical surface. We report high-field magnetic resoce
images of the armoured brain, and discuss the relationship between operative
findings, computer assisted tomographic (CT) findings and the change in
relaxation tim... |
Which are the main histone modifications associated with enhancers? | Histone 3 lysine 4 mono- (H3K4me1) and di-methylation (H3K4me2) are the main post-transcriptional histone modifications related to enhancer activity. | Enhancers cause a high level of transcription and activation of chromatin
structure at target genes. Hyperacetylation of histones H3 and H4, a mark of
active chromatin, is established broadly across target loci by enhancers that
function over long distances. In the present study, we studied the role of an
enhancer ... |
What is the role of Thyrotropin Releasing Hormone in the treatment of comatose patients? | Thyrotropin Releasing Hormone and its analogs are used for treatment of comatose patients. In animal models, Thyrotropin Releasing Hormone and its analogs have been shown to improve the disturbance of consciousness caused by head concussion and pentobarbital. This analeptic action is attributable to stimulation of chol... | Hypothalamic hormones as well as anterior pituitary hormones were detected in
the peripheral plasma after the diagnosis of brain death. It is possible that
residual hypothalamic tissue was functioning after satisfying the usual criteria
of total brain death. To examine this possibility, endocrinological and
morphol... |
Do Conserved noncoding elements act as enhancers? | An important percentage of noncoding elements conserved across distant species shows enhancer activity and other forms of regulatory functionality. | Fish-mammal genomic comparisons have proved powerful in identifying conserved
noncoding elements likely to be cis-regulatory in nature, and the majority of
those tested in vivo have been shown to act as tissue-specific enhancers
associated with genes involved in transcriptional regulation of development.
Although m... |
Can the iPS cell technology be used in Fanconi anemia therapy? | iPS cell technology can be used for the generation of disease-corrected, patient-specific cells with potential value for cell therapy applications in Fanconi anemia. | The generation of induced pluripotent stem (iPS) cells has enabled the
derivation of patient-specific pluripotent cells and provided valuable
experimental platforms to model human disease. Patient-specific iPS cells are
also thought to hold great therapeutic potential, although direct evidence for
this is still lac... |
Which drug is considered as the first line treatment of fibromyalgia? | Pregabalin is, therefore, a valuable option in the first-line treatment of patients with fibromyalgia. | PURPOSE: Fibromyalgia is a syndrome of unknown origin with a high prevalence.
Multimodal approaches seem to be the treatment of choice in fibromyalgia. A
multidisciplinary program was developed and implemented for patients with
fibromyalgia in the primary care setting. The program included education (seven
sessions... |
What are the signatures of aggressive periodontitis? | Aggressive periodontitis does not differ from chronic periodontitis from a microbial profile point of view but there are distinctive immunological signatures, including a higher expression in IgG against most periodontal pathogens and a more intense regulatory mechanism of metabolic processes. | This pilot study examined gene expression signatures in pathological gingival
tissues of subjects with chronic or aggressive periodontitis, and explored
whether new subclasses of periodontitis can be identified based on gene
expression profiles. A total of 14 patients, seven with chronic and seven with
aggressive p... |
With which complexes is the protein SUS1 associated? | Sus1/ENY2 is a component of the SAGA and TREX-2 complexes | Sus1 is a central component of the yeast gene gating machinery, the process by
which actively transcribing genes such as GAL1 become associated with nuclear
pore complexes. Sus1 is a component of both the SAGA transcriptional
co-activator complex and the TREX-2 complex that binds to nuclear pore
complexes. TREX-2 c... |
Can Preimplantation Genetic Diagnosis (PGD) be used for gender selection? | Preimplantation Genetic Diagnosis can be used for gender selection. | PGD has been successfully used for several years. Over 40 babies have been born
worldwide by use of these techniques. Unfortunately, a number of misdiagnoses
have been made, a distressing consequence of a new frontier. Significant
advances have been made to improve the efficiency and accuracy of PCR and FISH.
The w... |
What is the principle of ATAC (Assay for Transposase-Accessible Chromatin) technique? | ATAC-seq (Assay for Transposase-Accessible Chromatin) is an assay for transposase-accessible chromatin using sequencing, based on direct in vitro transposition of sequencing adaptors into native chromatin. ATAC is a rapid and sensitive method for integrative epigenomic analysis. ATAC-seq captures open chromatin sites u... | |
Which are the main NMD factors in Saccharomyces cerevisiae? | Nonsense-mediated mRNA decay (NMD) is a surveillance mechanism that accelerates the degradation of mRNAs containing premature translation termination codons. This quality control pathway depends on the NMD-specific factors, Upf1p, Upf2p/Nmd2p, and Upf3p, as well as the two release factors, eRF1 and eRF3 (respectively d... | Transcripts harboring premature signals for translation termination are
recognized and rapidly degraded by eukaryotic cells through a pathway known as
nonsense-mediated mRNA decay (NMD). In addition to protecting cells by
preventing the translation of potentially deleterious truncated peptides,
studies have suggest... |
Which histone marks are deposited by Set7? | Set7 is H4K20 monomethyltransferase. Upregulation of PR-Set7 expression upon loss of HCF-1 leads to improper mitotic H4-K20 methylation. Set7 (or some variant) has also been reported to perform mono-methylation on lysine-4 of H3. | We have purified a human histone H4 lysine 20 methyltransferase and cloned the
encoding gene, PR/SET07. A mutation in Drosophila pr-set7 is lethal: second
instar larval death coincides with the loss of H4 lysine 20 methylation,
indicating a fundamental role for PR-Set7 in development. Transcriptionally
competent re... |
Has proteomics been used in the study of the dry eye syndrome? | Yes, tears obtained from patients with the dry eye syndrome have been analyzed using different proteomic technologies. | The proteins found in tears have an important role in the maintece of the
ocular surface and changes in the quality and quantity of tear components
reflect changes in the health of the ocular surface. In this study, we have used
quantitative proteomics, iTRAQ technology coupled with 2D-oLC-o-ESI-MS/MS
and with a st... |
What is the indication for isradipine? | Isradipine is safe and effective when administered long-term in the treatment of hypertensive patients | One-year open Multicentric Isradipine Study (MIS) performed in 7 centres in
Czechoslovakia included 144 patients with mild and moderate hypertension.
Isradipine was given at a dose of 2.5 mg daily. If normalization of diastolic
blood pressure (BP) had not been reached, the dosage was increased to 5 mg.
Monotherapy ... |
List non-surgical treatment modalities that are included in the Stupp protocol. | Radiotherapy and chemotherapy are non-surgical treatment modalities that are included in the Stupp protocol. This protocol is widely used for treatment of glioblastoma. | The coincidence of multiple sclerosis (MS) and glioblastoma has been reported in
several anecdotal reports. Little is known concerning the effects of radio-
and/or chemotherapy on demyelinating brain lesions in MS patients. Moreover,
there are no data concerning the effect of concomitant radiochemotherapy
according... |
Which genes are associated with Ehlers-Danlos syndrome type I/II? | It is currently estimated that approximately 50% of patients with a clinical diagnosis of classic Ehlers-Danlos syndrome harbor mutations in the COL5A1 and the COL5A2 gene, encoding the α1 and the α2-chain of type V collagen, respectively | Ehlers-Danlos syndrome (EDS) is a group of heritable disorders of connective
tissue with skin, ligaments and blood vessels being the main sites affected. The
commonest variant (EDS II) exhibits an autosomal domit mode of inheritance
and is characterized by joint hypermobility, cigarette paper scars, lax skin and
ex... |
Which factors are considered in the ABCD2 score? | Age, Blood pressure, Clinical features, Duration of symptoms and Diabetes are included in the ABCD2 score, which is used to identify patients having a transient ischemic attack who are at high risk for imminent stroke. | STUDY OBJECTIVE: We evaluate, in admitted patients with transient ischemic
attack, the accuracy of the ABCD(2) (age [A], blood pressure [B], clinical
features [weakness/speech disturbance] [C], transient ischemic attack duration
[D], and diabetes history [D]) score in predicting ischemic stroke within 7
days.
METHO... |
Is Tuberous Sclerosis a genetic disease? | Tuberous sclerosis is a genetic disorder with an autosomal dominant pattern of inheritance, variable expressivity, and incomplete penetrance. Two thirds of TSC cases result from sporadic genetic mutations, not inheritance, but their offspring may inherit it from them. Current genetic tests have difficulty locating the ... | The existence of locus heterogeneity for a genetic disease may complicate
linkage studies considerably, especially when very few large families with the
disease are available. In this situation a modest collection of families is
unlikely to be sufficient for successful localisation of one or more disease
genes. Rec... |
Does TRIM37 gene mutation causes Mulibrey nanism? | Yes, Mulibrey nanism is caused by recessive mutations in the TRIM37 gene encoding for the peroxisomal TRIM37 protein with ubiquitin-ligase activity. | Mulibrey ism is a rare growth disorder of prenatal onset caused by mutations
in the TRIM37 gene, which encodes a RING-B-box-coiled-coil protein. The
pathogenetic mechanisms of mulibrey ism are unknown. We have used transiently
transfected cells and antibodies raised against the predicted TRIM37 protein to
character... |
Have thyronamines effects on fat tissue? | thyronamines cause reduction of fat mass | Thyronamines (TAMs) are a newly identified class of endogenous signaling
compounds. Their structure is identical to that of thyroid hormone and
deiodinated thyroid hormone derivatives, except that TAMs do not possess a
carboxylate group. Despite some initial publications dating back to the 1950s,
TAMs did not devel... |
What is the genetic basis of progeria | Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome in around 90% of patients | Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder
characterized by features reminiscent of marked premature ageing. Here, we
present evidence of mutations in lamin A (LMNA) as the cause of this disorder.
The HGPS gene was initially localized to chromosome 1q by observing two cases of
uniparenta... |
What type of DNA repair pathways is initiated by AlkA glycosylase? | The AlkA protein (3-methyladenine DNA glycosylase II protein) is a monofunctional DNA glycosylase that recognizes a broad range of oxidized and alkylated base lesions and catalyzes the hydrolysis of the N-glycosidic bond to initiate the base excision repair (BER) pathway. | BACKGROUND: Reactive oxygen species, ionizing radiation, and other free radical
generators initiate the conversion of guanine (G) residues in DNA to
8-oxoguanine (OG), which is highly mutagenic as it preferentially mispairs with
adenine (A) during replication. Bacteria counter this threat with a
multicomponent syst... |
Is there any protein that undergoes both mono-ubiquitination and poly-ubiquitination? | Yes, there are some rare cases where a protein can be both mono-ubiquitinated and poly-ubiquitinated. | Recently, we demonstrated that hydrogen peroxide (H2O2) inhibits the
internalization of the epidermal growth factor (EGF) receptor and the
EGF-induced mono-ubiquitination of EGF receptor pathway substrate clone #15
(Eps15) in fibroblasts. In addition, it was suggested that EGF receptor
internalization might be inhi... |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.