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What is the function of the AIRE gene at the embryonic stage?
Aire regulates the expression of differentiation-associated genes and self-renewal of embryonic stem cells. Aire and Deaf1 help regulate the ectopic expression of diverse tissue-specific antigens to establish self-immune tolerance. Knockdown of Aire in mouse ESCs resulted in significantly decreased clone-forming effici...
[19008896, 21952165, 22540148, 20226168, 19302042]
100
The negative selection of T cells in the thymus is necessary for the maintenance of self tolerance. Medullary thymic epithelial cells have a key function in this process as they express a large number of tissue-specific self antigens that are presented to developing T cells. Mutations in the autoimmune regulator (AIRE)...
1
What is the principle of the PAR-CLIP methodology?
In particular, PAR-CLIP utilizes a photoactivatable nucleoside for more efficient crosslinking. A recent method, PAR-CLIP, uses photoreactive nucleosides to crosslink RBPs to target RNAs in cells prior to immunoprecipitation. One characteristic feature of cDNA libraries prepared by PAR-CliP is that the precise positi...
[21559008, 23706177, 22213601, 24297251, 22152485, 22844102, 21851591, 21816340, 20371350, 21572407, 22885304, 20644507, 23368412, 22926237]
101
The unique composition and spatial arrangement of RNA-binding proteins (RBPs) on a transcript guide the diverse aspects of post-transcriptional regulation. Therefore, an essential step towards understanding transcript regulation at the molecular level is to gain positional information on the binding sites of RBPs. Prot...
2
Which drugs are utilized to treat amiodarone-induced thyroitoxicosis?
Amiodarone-induced thyrotoxicosis treatment includes anti-thyroid drugs and steroid therapy Radio Iodine Treatment (RIT) may be a safe and useful method of AIT therapy in patients with low RAIU, in whom other treatment methods are contraindicated. Lithium is a useful and safe medication for treatment of iodine-induced ...
[2781955, 12727944, 21135419, 9217642, 11901034, 16910349, 7946779, 16544025, 19675515]
102
Treatment of amiodarone-induced thyrotoxicosis (AIT) with thionamide, lithium or radioactive iodine is ineffective. This particular form of hyperthyroidism is long-lasting because of the slow elimination of amiodarone. Therefore, an alternative therapy is necessary, especially for patients who need to continue permanen...
3
How is spastic diplegia diagnosed?
Diagnosis of spastic diplegia is mainly carried out with through clinical gait analysis (CGA), with variations such as 1-minute walk, LSU, and 10-meter walk tests, or Gross Motor Function Measure-88 (GMFM-88). Other methods used for evaluation of patients include brain magnetic resonance imaging (MRI) and motor functio...
[24901761, 21310339, 25276040, 24239880, 17826455, 20829081, 10427678, 1743414, 23085499, 25700542, 24409030, 24182356, 16344032, 2816867, 15157997, 23121133, 2600179, 7270517, 12549749, 17509240]
103
Argininemia is caused by a deficiency of arginase 1, which catalyzes the final step in the urea cycle, i.e., the cytosolic hydrolysis of arginine to ornithine and urea. In contrast to other urea cycle disorders, hyperammonemic encephalopathy is rarely observed in patients with argininemia. Rather, most exhibit an insid...
4
Which is the genetic defect causing Neurofibromatosis type 1?
Neurofibromatosis type 1 (NF1) is due to all types of mutations in the neurofibromin (NF1) gene.
[14722917, 2129297, 16323217, 21567923, 16835897]
104
One of the main features of neurofibromatosis type 1 (NF1) is benign neurofibromas, 10-20% of which become transformed into malignant peripheral nerve sheath tumors (MPNSTs). The molecular basis of NF1 tumorigenesis is, however, still unclear. Ninety-one tumors from 31 NF1 patients were screened for gross changes in th...
5
Which is the human selenoprotein that contains several Se-Cys residues?
Selenoprotein P, that contains 10 selenocysteines.
[19345254, 11122377, 10692426, 7637580, 20417644, 15104205, 9288402, 17000762, 15777501]
105
Selenoprotein P (Sepp1) is a secreted protein that is made up of 2 domains. The larger N-terminal domain contains 1 selenocysteine residue in a redox motif and the smaller C-terminal domain contains the other 9 selenocysteines. Sepp1 isoforms of varying lengths occur but quantitation of them has not been achieved. Hepa...
6
Which package is available for analysing genomic interactions in R/Bioconductor?
r3Cseq is an R/Bioconductor package designed to perform 3C-seq data analysis in a number of different experimental designs. The package reads a common aligned read input format, provides data normalization, allows the visualization of candidate interaction regions and detects statistically significant chromatin interac...
[23671339]
106
The coupling of chromosome conformation capture (3C) with next-generation sequencing technologies enables the high-throughput detection of long-range genomic interactions, via the generation of ligation products between DNA sequences, which are closely juxtaposed in vivo. These interactions involve promoter regions, en...
7
Are stress granules involved in the pathogenesis of Amyotrophic Lateral Sclerosis?
Stress granules are cytoplasmic inclusions that repress translation of a subset of RNAs in times of cellular stress, and several proteins implicated in neurodegeneration (i.e. Ataxin-2 and SMN) interact with stress granules. Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules. ...
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108
Stress granules (SGs) are RNA-containing cytoplasmic foci formed in response to stress exposure. Since their discovery in 1999, over 120 proteins have been described to be localized to these structures (in 154 publications). Most of these components are RNA binding proteins (RBPs) or are involved in RNA metabolism and ...
8
Does TGF-beta play a role in cardiac regeneration after myocardial infarction?
TGFβ signaling orchestrates the beneficial interplay between scar-based repair and cardiomyocyte-based regeneration to achieve complete heart regeneration.
[18985280, 17322368, 19966054, 15883211, 23293297, 10198196, 16842199, 12374778, 22513374]
109
Macrophages have been suggested to be beneficial for myocardial wound healing. We investigated the role of macrophages in myocardial wound healing by inhibition of macrophage infiltration after myocardial injury. We used a murine cryoinjury model to induce left ventricular damage. Infiltrating macrophages were depleted...
9
Is there a genetic component for happiness?
Results of studies on genetic factors indicated an average effectiveness of genetic about 35 -50 percent on happiness. The MAOA gene predicts happiness in women. The heritability of happiness was estimated at 22% for males and 41% in females.
[20440640, 19728071, 26060713, 20981772, 20397744, 23769682, 24690898, 22885141, 19569406]
110
Subjective Wellbeing (SWB) can be assessed with distinct measures that have been hypothesized to represent different domains of SWB. The current study assessed SWB with four different measures in a genetically informative sample of adolescent twins and their siblings aged 13-28 years (N = 5,024 subjects from 2,157 fami...
10
What enzyme is inhibied by Opicapone?
Opicapone is a novel catechol-O-methyltransferase (COMT) inhibitor to be used as adjunctive therapy in levodopa-treated patients with Parkinson's disease
[24925090, 23248072, 24148813, 23336248, 24271646]
111
BACKGROUND AND OBJECTIVES: Opicapone is a novel third generation catechol-O-methyltransferase (COMT) inhibitor. The purpose of this study was to compare the levodopa pharmacokinetic profile throughout a day driven by the COMT inhibition either following repeated doses of opicapone or concomitant administration with ent...
11
What kind of affinity purification would you use in order to isolate soluble lysosomal proteins?
The rationale for purification of the soluble lysosomal proteins resides in their characteristic sugar, the mannose-6-phosphate (M6P), which allows an easy purification by affinity chromatography on immobilized M6P receptors.
[15789345, 17258946, 18370023, 18507433, 11079561, 16145712, 16399764, 22158965, 18977398, 19383612, 16709564]
112
The lysosome is a membrane delimited cytoplasmic organelle that contains at least 50 hydrolytic enzymes and associated cofactors. The biomedical importance of these enzymes is highlighted by the many lysosomal storage disorders that are associated with mutations in genes encoding lysosomal proteins, and there is also e...
12
Which are the genes thought to be regulated by EWS/FLI?
The EWS/FLI translocation product is the causative oncogene in Ewing sarcoma and acts as an aberrant transcription factor. EWS/FLI dysregulates gene expression during tumorigenesis by abnormally activating or repressing genes. The expression levels of a significant number of genes are affected in Ewing sarcoma, some of...
[23527175, 16697960, 17114343, 18927503, 15492248, 19920188, 19718047]
113
The EWS/FLI translocation product is the causative oncogene in Ewing sarcoma and acts as an aberrant transcription factor. EWS/FLI dysregulates gene expression during tumorigenesis by abnormally activating or repressing genes. The expression levels of thousands of genes are affected in Ewing sarcoma, however, it is unk...
13
Do archaeal genomes contain one or multiple origins of replication?
Some archaea replicate from single origins but most archaea and all eukaryotes replicate using multiple origins.
[17956224, 23375370, 17350933, 18922777, 16249118, 15197606, 22978470, 16321966, 17392430, 24185008, 14526006, 20978102, 2541880, 21364800, 20850498, 15337158, 21784908, 12237132, 22942672, 12646230, 15876567, 20667100, 17511521, 11967086, 16980466, 22812406, 11521661]
114
Chromosomes with multiple DNA replication origins are a hallmark of Eukaryotes and some Archaea. All eukaryal nuclear replication origins are defined by the origin recognition complex (ORC) that recruits the replicative helicase MCM(2-7) via Cdc6 and Cdt1. We find that the three origins in the single chromosome of the ...
14
Which pathological conditions are caused by mutations in the CYLD gene?
Since loss of CYLD expression can be observed in different types of human cancer, it is now well established that CYLD acts as a tumor suppressor gene. Pathogenic mutations in CYLD can be identified in patients affected with Brooke-Spiegler syndrome, (Familial) Cylindromatosis or multiple familial trichoepithelioma. CY...
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115
Multiple familial trichoepitheliomas (MFT) constitute an autosomally inherited syndrome possibly related to Brooke-Spiegler syndrome (BSS). Although some early studies suggested a role for the PTCH gene on chromosome 9q22.3 in the etiopathogenesis of MFT, recent studies of occasional patients with the MFT clinical phen...
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