question
stringlengths
13
215
ground_truth
stringlengths
2
3.15k
context
stringlengths
0
157k
Provide examples of how molecular transporters contribute to multi-drug resistance in bacteria.
MDR efflux pumps began causing clinical problems relatively recently, in parallel with the extensive use of antibiotics in medicine and as supplements in animal feeds. However, our analyses indicate that these MDR efflux pumps did not arise through recent mutations in genes encoding transporters that changed their subs...
The efflux systems of bacteria protect cells from antibiotics and biocides by actively transporting compounds out of the cytoplasm and/or periplasm and thereby limit their steady-state accumulation at their site(s) of action. The impact of efflux systems on the efficacy of antibiotics used in human medicine and ani...
What is the minimal genome build?
The identification of the essential genes of bacteria and the minimal genome for the free-living cellular life could provide insights into the origin, evolution, and essence of life forms. The field of Synthetic Biology seeks to apply engineering principles to biology in order to produce novel biological systems. One a...
A central undertaking in synthetic biology (SB) is the quest for the 'minimal genome'. However, 'minimal sets' of essential genes are strongly context-dependent and, in all prokaryotic genomes sequenced to date, not a single protein-coding gene is entirely conserved. Furthermore, a lack of consensus in the field as...
Is cocaine use associated with increased risk for intracerebral hemorrhage?
Cocaine use is associated with increased incidence of intracranial hemorrhages most likely due to pressure increases.
Medical problems related to cocaine consumption are not rare in our environment; however, to this respect, descriptions in the spanish literature are scarce. We present three cases of intracerebral hemorrhage which occurred after cocaine consumption (intranasal route in two cases and intravenous route in one case). ...
Is miR-21 related to carcinogenesis?
Yes. It has been demonstrated in several experimental studies that miR-21 has oncogenic potential, and is significantly dysregulated in numerous types of cancer. Therefore, miR-21 is closely related to carcinogenesis.
Expression levels of microRNAs (miRNAs) are globally reduced in cancer compared with matched normal tissues, and miRNA function has recently been implicated in tumorigenesis. To test whether epigenetic silencing contributes to miRNA suppression in tumors, lung cancer cells were treated with inhibitors of DNA methyl...
Which is the most prevalent form of arrhythmia worldwide?
Atrial fibrillation (AF) is the most common arrhythmia worldwide, and it has a significant effect on morbidity and mortality. It is a significant risk factor for stroke and peripheral embolization, and it has an effect on cardiac function. Atrial fibrillation (AF) is the most common cardiac arrhythmia affecting up to 1...
Cardiac arrhythmias continue to pose a major medical challenge and significant public health burden. Atrial fibrillation, the most prevalent arrhythmia, affects more than two million Americans annually and is associated with a twofold increase in mortality. In addition, more than 250,000 Americans each year suffer ...
Are thyroid hormone receptor alpha1 mutations implicated in thyroid hormone resistance syndrome?
thyroid hormone receptor alpha1 mutations are implicated in thyroid hormone resistance syndrome
Resistance to thyroid hormone (RTH) is caused by mutations of the thyroid hormone receptor beta (TR beta) gene. Almost all RTH patients are heterozygous with an autosomal domit pattern of inheritance. That most are clinically euthyroid suggests a compensatory role of the TR alpha1 isoform in maintaining the normal ...
Which agents are included in the FLAMSA chemotherapy regimen?
Fludarabine, cytarabine and amsacrine are included in the FLAMSA chemotherapy regimen.
The goal of this analysis was to define the role of the moderate-intensity fludarabin Ara-C amsacrin (FLAMSA)-reduced intensity conditioning (RIC) regimen for patients with high-risk AML undergoing allogeneic SCT (alloSCT) in first CR1. High-risk was defined by (1) AML secondary to MDS or radio/chemotherapy, (2) un...
Which are the subunits of the IkB protein kinase (IKK)?
Proinflammatory NF-kappaB activation requires the IkappaB (inhibitor of NF-kappaB) kinase (IKK) complex that contains two catalytic subunits named IKKalpha and IKKbeta and a regulatory subunit named NF-kappaB essential modulator (NEMO).Additional components may exist, transiently or permanently, but their characterizat...
The IkappaB-Kinase (IKK) complex is a multisubunit protein complex crucial for signal-induced phosphorylation of the IkappaB proteins and thus controls the activity of the transcription factor NF-kappaB. Besides the two kinases IKKalpha and IKKbeta, the IKK complex contains NEMO/IKKgamma, an additional subunit with ...
Is PLK2 involved in alpha-synuclein phosphorylation in Parkinson disease?
PLK2 directly phosphorylates alpha-synuclein at Ser-129 in an in vitro biochemical assayThese results indicate that PLK2 plays a critical role in alpha-synuclein phosphorylation in central nervous system.
BACKGROUND: α-Synuclein aggregates in Lewy bodies and plays a central role in the pathogenesis of a group of neurodegenerative disorders, known as "Synucleinopathies", including Parkinson's disease. Parkin mutations result in loss of parkin E3-ubiquitin ligase activity and cause autosomal recessive early onset park...
Which glands are subject to attack by lymphocytes in Sjogren's syndrome?
Sjögren's syndrome (SjS) is a human autoimmune disease characterized by exocrine dysfunction resulting from chronic autoimmune attack primarily against the lacrimal and/or salivary glands.
NOD mice manifest many features of autoimmune exocrinopathy (Sjögren's syndrome), a disease generally characterized by a chronic, progressive immunological attack against the exocrine tissues of the salivary and lacrimal glands. Previous studies using the NOD congenic partner strain, NOD.Igmu(null), defined an impo...
Describe Malgaigne fracture.
Bilateral pubic rami fractures are characteristic to Malgaigne fractures. Patients with Malgaigne fractures are particularly prone to additional injuries.
An external fixator has been designed that is rigid enough to eliminate the need for skeletal traction in patients with unstable pelvic-ring fractures. This Wichita frame is similar to the Pittsburgh frame but is stiffened by the use of locked crossbars connecting the side triangles. The frame was tested in cadaver...
Name five popular computer programs used to identify genes in genomic sequences
Any five from the following not exhaustive list: AUGUSTUS, MGENE, CRAIG, Agene, EUGENE, Fgenesh++C, Fgenesh++, Fgenesh, GeneID, GeneMark.hmm, GENOMIX, GESECA, GLEAN, GlimmerHMM, Gramene,JIGSAW, MAKER, ,MGENE, N-SCAN, SGP2, SNAP, ExonHunter, Evigan, Genescan, HMMGene, MZEF, Genie, Twinscan, SLAM, GRAIL.
Sequencing centers such as the Human Genome Center at LBNL are producing an ever-increasing flood of genetic data. Annotation can greatly enhance the biological value of these sequences. Useful annotations include possible gene locations, homologies to known genes, and gene signal such as promoters and splice sites...
Which are the major transcription factors regulating glycolysis in mammals?
The main positive transcriptional regulator of Glycolysis in mammals is HIF1-alpha (Hypoxia Inducible Factor 1a). HIF1-alpha is upregulated by the oncogenes c-Myc and Src, which therefore also positively regulate glycolysis. Several reports have linked HIF-1α induction with STAT3 activation. SIRT6 appears to function a...
The product of the c-myc proto-oncogene (c-Myc) is involved in the control of cell proliferation, differentiation, and apoptosis. It acts as a transcription factor that recognizes the CACGTG motif. This sequence has also been found in the glucose-responsive elements of genes involved in the control of liver glycoly...
Mutations in which gene determine response to both erlotinib and gefitinib?
Patients who carry somatic activating mutations in the tyrosine kinase domain of the epidermal growth factor receptor (EGFR) gene, respond well to erlotinib and gefitinib.
BACKGROUND: Lung adenocarcinomas from patients who respond to the tyrosine kinase inhibitors gefitinib (Iressa) or erlotinib (Tarceva) usually harbor somatic gain-of-function mutations in exons encoding the kinase domain of the epidermal growth factor receptor (EGFR). Despite initial responses, patients eventually ...
Which protein complexes contain mitofilin?
mitochondrial inter-membrane space bridging (MIB) complex mitochondrial inner membrane organizing system (MINOS) MitOS for mitochondrial organizing structure
The mitochondrial inner membrane consists of two domains, inner boundary membrane and cristae membrane that are connected by crista junctions. Mitofilin/Fcj1 was reported to be involved in formation of crista junctions, however, different views exist on its function and possible partner proteins. We report that mit...
Define marine metaproteomics
Marine metaproteomics is the study of the activities of whole marine microbial communities. The proteomic analyses are applied directly without the need for prior microbial culturing. The samples can be sediments,seawater, etc.
BACKGROUND: Natural microbial communities are extremely complex and dynamic systems in terms of their population structure and functions. However, little is known about the in situ functions of the microbial communities. RESULTS: This study describes the application of proteomic approaches (metaproteomics) to observ...
Mutation of which gene and which chromosome cause Neurofibromatosis type I?
Neurofibromatosis Type I is an autosomal dominant condition associated with NF-1 gene mutation that is located in the long arm of chromosome 17 (17q11.2). In the majority (95%) of Neurofibromatosis Type I individuals, the mutation is found in the NF1 gene, while the remaining 5% of the patients have different types of ...
The von Recklinghausen neurofibromatosis (NF1) gene has been localized to the pericentromeric region of chromosome 17. We have screened six multigenerational families with multiple, tightly linked markers to aid in mapping this region of the chromosome. More than 150 members in six families were typed with probes i...
Which genes does thyroid hormone receptor alpha1 regulate in the heart?
β-myosin heavy chain, alpha-myosin heavy chain, SR(Ca)ATPase, phospholamban, nucleotide-gated potassium channel 2, KCNE1, HCN2, HCN4, KCND2, KCND3, KCNA4
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 ...
What is the content of the METLIN database?
METLIN is a metabolite database containing tandem mass spectrometry data for each metabolite.
Metabolites in islets of Langerhans and Escherichia coli strain DH5-alpha were analyzed using negative-mode, matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS). For analysis of anionic metabolites by MALDI, 9-aminoacridine as the matrix yielded a far superior signal in compa...
Which is the RNA sequence of the canonical polyadenylation signal?
A polyadenylation signal (AAUAAA) nearby the 3' end of pre-mRNA is required for poly(A) synthesis.
It is well known that nearly all eukaryotic mRNAs contain a 3' poly(A) tail. A polyadenylation signal (AAUAAA) nearby the 3' end of pre-mRNA is required for poly(A) synthesis. The protein complex involved in the pre-mRNA polyadenylation is coupled with RNA polymerase II during the transcription of a gene. According ...
Which computational frameworks are available for predicting enhancers?
DEEP integrates three components with diverse characteristics that streamline the analysis of enhancer's properties in a great variety of cellular conditions. DEEP uses features derived from histone modification marks or attributes coming from sequence characteristics. Experimental results indicate that DEEP performs b...
The human genome encodes 1500-2000 different transcription factors (TFs). ChIP-seq is revealing the global binding profiles of a fraction of TFs in a fraction of their biological contexts. These data show that the majority of TFs bind directly next to a large number of context-relevant target genes, that most bindi...
Which proteins in the cerebro-spinal fluid can be used for early diagnosis of Alzheimer's disease?
CSF is a clear fluid that bathes and cushions the brain and spinal cord. Adults have about 1 pint of CSF, which physicians can sample through a minimally invasive procedure called a lumbar puncture, or spinal tap. Research suggests that Alzheimer's disease in its earliest stages may cause changes in CSF levels of tau a...
The purpose of the study was to determine whether oxiracetam crosses the human blood-brain barrier and to evaluate its comparative kinetics in serum and in cerebro-spinal fluid (CSF). Six DAT patients, undergoing CSF collection for diagnostic purposes, received 2 g oxiracetam daily, by a 60 min i.v. infusion, for 7...
Is there evidence for somatic mosaicism in Tuberous Sclerosis?
Yes, somatic mosaicism in Tuberous Sclerosis has been documented with the use of mutation identification, and subsequent linkage analysis in the affected families. In a large family with both parents unaffected, 3 affected children and 5 unaffected siblings, a 4 bp insertion in TSC2 gene was shown to be inherited from ...
We have investigated a family in which three siblings with the autosomal domit disorder tuberous sclerosis had unaffected parents. The family were typed for polymorphic markers spanning the two genes known to cause tuberous sclerosis located at 9q34 (TSC1) and 16p13.3 (TSC2). TSC1 markers showed different maternal ...
What is GRO-seq?
Global run-on sequencing (Gro-seq) that maps the position, amount, and orientation of transcriptionally engaged RNA polymerases genome-wide. In this method, nuclear run-on RNA molecules are subjected to large-scale parallel sequencing and mapped to the genome.
RNA polymerases are highly regulated molecular machines. We present a method (global run-on sequencing, GRO-seq) that maps the position, amount, and orientation of transcriptionally engaged RNA polymerases genome-wide. In this method, nuclear run-on RNA molecules are subjected to large-scale parallel sequencing and...
What is the role of the RUNX1-MYEF2 complex?
A novel complex, RUNX1-MYEF2, represses hematopoietic genes in erythroid cells.
Does smoking increase risk for glioblastoma?
No. Smoking does not increase risk for glioblastoma.
A case-control study of brain tumor was conducted in collaborating hospitals in Boston, Providence, and Baltimore. Cases were 160 consecutive patients being treated for glioblastoma, grade 3 or 4 astrocytoma, or anaplastic astrocytoma. Controls were 128 healthy persons identified among the case's friends. A complex ...
Which genes are implicated in short QT syndrome?
The genes that are implicated in short QT syndrome are KCNJ2, KCNH2, CACNA2D1 and KCNQ1.
BACKGROUND: The electrocardiographic short QT-interval syndrome forms a distinct clinical entity presenting with a high rate of sudden death and exceptionally short QT intervals. The disorder has recently been linked to gain-of-function mutation in KCNH2. The present study demonstrates that this disorder is genetic...
What is SCENAR therapy used for?
all patients experienced substantial relief of pain from the first treatment. an electronic biofeedback device (scenar) may be successfully utilized in the management of post-herpetic neuralgia. scenar) as effective in the treatment of neurogenic dysfunction of the bladder in children with nocturnal enuresis. post-herp...
A new technique of low-frequency modulated electric current therapy, SCENAR therapy, was used in treatment of 103 patients with duodenal ulcer (DU). The influence of SCENAR therapy on the main clinical and functional indices of a DU relapse was studied. It was shown that SCENAR therapy, which influences disturbed m...
List symptoms of Gradenigo's syndrome.
Gradenigo's syndrome is a rare but life threatening complication of acute otitis media, which includes a classic triad of otitis media, deep facial pain and ipsilateral abducens nerve paralysis.
Gradenigo's syndrome, the triad of suppurative otitis media, abducens nerve palsy and pain in the ophthalmic division of the trigeminal nerve, remains a rare complication of otitis media. A case in a paediatric patient is described, successfully managed conservatively. There is little evidence to support increased ...
Is Wnt16b secreted in response to chemotherapy?
Yes, WNT16B is secreted into the microenvironment by human ovarian fibroblasts after DNA damage-associated treatment, including chemotherapy drugs and radiation.
Acquired resistance to anticancer treatments is a substantial barrier to reducing the morbidity and mortality that is attributable to maligt tumors. Components of tissue microenvironments are recognized to profoundly influence cellular phenotypes, including susceptibilities to toxic insults. Using a genome-wide ana...
Do DNA double-strand breaks play a causal role in carcinogenesis?
Yes. It has been demonstrated that induction of DNA double-strand breaks (DSBs) and defects in overall DSBs repair capacity can lead to an accumulation of mutations, resulting in genomic instability of cells. Given that genomic instability is the hallmark of cancer, DSBs play a causal role in carcinogenesis.
In order to study the role of DNA damage processing in the development of cutaneous squamous cell carcinoma (SCC), we assessed the ability of six keratinocyte cell lines from a multistage-tumor progression model to repair three types of DNA damage: pyrimidine dimers, oxidative DNA lesions and DNA double strand brea...
Do conserved noncoding elements co-occur with matrix-attachment regions?
Yes. It is estimated that 11% of the conserved noncoding DNA consists of predicted MARs. Conversely, more than half of the predicted MARs co-occur with one or more independently identified conserved sequence blocks. An excess of conserved predicted MARs is seen in intergenic regions preceding 5' ends of genes, suggesti...
Noncoding DNA in the human-mouse orthologous intergenic regions contains "islands" of conserved sequences, the functions of which remain largely unknown. We hypothesized that some of these regions might be matrix-scaffold attachment regions, MARs (or S/MARs). MARs comprise one of the few classes of eukaryotic nonco...
What is the relationship between thyroid hormone and inflammatory markers in heart failure patients?
There is an inverse correlation between inflammatory markers (IL-6 and TNF alfa and PCR) and FT3 levels in patients with heart failure
To investigate relationships between thyroid states and the cardiac endocrine system, we analyzed thyrotropin (TSH), thyroid hormone, plasma levels of interleukin-6 (IL-6) and brain natriuretic peptide (BNP) in 50 patients with chronic heart failure (CHF), in 30 patients with heart failure from acute myocardial inf...
Which variables are included in the SPAN-100 score?
SPAN-100 score includes patient's age and NIH Stroke Scale score. SPAN-100 is used for prognostication of stroke patients.
BACKGROUND: To evaluate if plasma levels of midregional pro-adrenomedullin (MR-proADM) improve prediction of functional outcome in ischemic stroke. METHODS: In 168 consecutive ischemic stroke patients, plasma levels of MR-proADM were measured within 24 hours from symptom onset. Functional outcome was assessed by the...
Are Drosophila ultraconserved elements candidate ncRNAs?
Yes. Highly constrained intergenic Drosophila ultraconserved elements are candidate ncRNAs.
Eukaryotes contain short (∼80-200 bp) regions that have few or no substitutions among species that represent hundreds of millions of years of evolutionary divergence. These ultraconserved elements (UCEs) are candidates for containing essential functions, but their biological roles remain largely unknown. Here, we r...
Which genes does thyroid hormone receptor alpha1 regulate in the liver?
phosphoenolpyruvate-carboxykinase"// "pyruvate kinase"// "D1", "deiodinase 1"//
Type 1 deiodinase (D1) metabolizes different forms of thyroid hormones to control levels of T3, the active ligand for thyroid hormone receptors (TR). The D1 gene is itself T3-inducible and here, the regulation of D1 expression by TRalpha1 and TRbeta, which act as T3-dependent transcription factors, was investigated...
What is the color of the protein Ranasmurfin?
Ranasmurfin is a blue protein.
Ranasmurfin, a previously uncharacterized approximately 13 kDa blue protein found in the nests of the frog Polypedates leucomystax, has been purified and crystallized. The crystals are an intense blue colour and diffract to 1.51 A with P2(1) symmetry and unit-cell parameters a = 40.9, b = 59.9, c = 45.0 A, beta = 9...
What is the role of Caenorhabditis elegans Heterochromatin protein 1 (HPL-2) in development?
Caenorhabditis elegans Heterochromatin protein 1 (HPL-2) links developmental plasticity, longevity and lipid metabolism. HPL-2 regulates the expression of germline genes, extracellular matrix components and genes involved in lipid metabolism. In addition, HPL-2 regulates the dauer developmental decision, a striking exa...
Proteins of the highly conserved heterochromatin protein 1 (HP1) family have been found to function in the dynamic organization of nuclear architecture and in gene regulation throughout the eukaryotic kingdom. In addition to being key players in heterochromatin-mediated gene silencing, HP1 proteins may also contrib...
Does surgery for ovarian endometriomas improve fertility?
Yes, endometrioma surgery seems to improve the success rates of fertility treatment.
Seventy-nine cases of ovarian endometrioma were treated via the laparoscope. The surgical technique gradually evolved from drainage alone to fulguration and finally to excision of the endometrioma cyst wall. Indications for laparoscopy were infertility (35 cases), pain (33), hypermenorrhea (5) and pelvic mass (4); ...
Are ACTA1 (alpha actin) and NEB (nebulin) genes related to nemaline myopathy?
Yes, most nemaline myopathy patients have mutations in the nebulin (NEB) or skeletal muscle alpha-actin (ACTA1) genes.
Nemaline myopathy is a clinically and genetically heterogeneous condition. The clinical spectrum ranges from severe cases with antenatal or neonatal onset and early death to late onset cases with only slow progression. Three genes are known to cause nemaline myopathy: the genes for nebulin (NEB) on chromosome 2q22,...
What are the pregnancy outcomes in rheumatoid arthritis?
There is increased obstetrical and neonatal morbidity. Women with RA had an increased risk of LBW, SGA babies, preeclampsia and CS compared with unaffected women. Women with RA appear to have a higher age-adjusted risk of adverse outcomes of pregnancy and longer hospital stays than do pregnant women in the general pop...
OBJECTIVE: To determine whether rheumatoid arthritis (RA) is associated with increased adverse obstetric or neonatal outcomes. STUDY DESIGN AND SETTING: Washington State birth records and hospital discharge data between 1987 and 2001 identified a cohort of women with rheumatoid arthritis and a comparison group of wo...
What is DNAshape?
DNAshape is a method and web server for predicting DNA structural features in a high-throughput (HT) manner for massive sequence data. This approach provides the framework for the integration of DNA sequence and shape analyses in genome-wide studies. The HT methodology uses a sliding-window approach to mine DNA struct...
How are thyroid hormones involved in the development of diabetic cardiomyopathy?
The diabetic state is associated with lowered T3 and T4 levels. Thyroid hormone treatment in diabetic cardiomyopathy may partially reverse cardiac dysfunction
The isolated working heart preparation was used to investigate the effect of continuous triiodothyronine (T3) administration on cardiac function and metabolism of rats rendered diabetic for a period of 4 wk with streptozocin (STZ). T3 controlled-release pellets were implanted 1 wk after STZ (70 mg/kg) injection. Ra...
By which methods can we evaluate the reliability of a phylogenetic tree?
The methods for assessing the robustness/reliability of the topology of the inferred phylogenetic trees are: the widely used bootstrap method and the jackknife method.
Comparisons of pol gene nucleotide and reverse transcriptase (RT) amino acid sequences of 47 retroviruses, 3 caulimoviruses, and 5 hepadnaviruses showed that approximately one-third of the gene at the 5' end is much more conserved than other pol regions. The most conserved regions on both the nucleotide and amino a...
Which histone modification is primarily linked to elongating transcription?
Similarly, H3K36 trimethylation, a mark associated with transcription elongation, was specifically increased at the HD locus in the striatum and not in the cerebellum. Recent studies reviewed here demonstrate that histone deacetylation on the body of a transcribed gene is regulated via Set2-mediated methylation of hist...
Set1, the yeast histone H3-lysine 4 (H3-K4) methylase, is recruited by the Pol II elongation machinery to a highly localized domain at the 5' portion of active mRNA coding regions. Set1 association depends upon the TFIIH-associated kinase that phosphorylates the Pol II C-terminal domain (CTD) and mediates the trans...
Could RG7112 be used as cancer therapy?
Yes, RG7112 has shown promising results in early phases of trials in cancer patients.
Increasing knowledge of the relationship between p53 and MDM2 has led to development of potential small molecule inhibitors useful for clinical studies. Herein, we discuss the patented (2006-2010) inhibitors of p53-MDM2 interaction. The anticancer agents discussed in this review belong to several different chemical...
Which interleukin is blocked by Siltuximab?
Siltuximab is a monoclonal antibody that binds to interleukin-6 with high affinity and specificity.
PURPOSE: Interleukin-6 (IL-6) has emerged as a key factor in the pathogenesis of the atypical lymphoproliferative disorder Castleman's disease (CD). Siltuximab is a new anti-IL-6, chimeric monoclonal antibody with potential therapeutic benefit in patients with CD. METHODS: We report interim results from an open-labe...
ROSIER scale is used for which disorder?
ROSIER (Recognition of Stroke in the Emergency Room) scale was developed as a stroke recognition tool on suspected patients in the prehospital setting.
OBJECTIVE: To compare the sensitivity and specificity of bedside diagnostic stroke scales in patients with suspected stroke. DESIGN: A cross-sectional observational study of patients with suspected acute stroke in an emergency department in a UK hospital. DIAGNOSTIC SCALES: The results of an assessment with the Reco...
How histone deacetylation causes transcriptional gene silencing?
Histone deacetylation, catalyzed by the histone deacetylase (HDAC) enzymes, is an epigenetic modification. Histone deacetylation leads to the formation of a condensed and transcriptionally repressive chromatin structure which inhibits gene transcription.
Epigenetic gene regulation is a key determit of heritable gene expression patterns and is critical for normal cellular function. Dysregulation of epigenetic transcriptional control is a fundamental feature of cancer, particularly manifesting as increased promoter DNA methylation with associated aberrant gene silenc...
Which is the subcellular localization of the protein angiogenin?
Under growth conditions, ANG is located in nucleolus where it promotes ribosomal RNA (rRNA) transcription thereby stimulating cell growth. In adverse conditions, ANG is relocated to cytoplasm to promote damage repairs and cell survival.
Angiogenin is endocytosed by subconfluent endothelial cells, translocated to the nucleus and accumulates in the nucleolus. It also localizes into the nucleolus of digitonin-permeabilized endothelial cells. The peptide RRRGL corresponding to residues 31-35 of human angiogenin specifically targets non-nuclear carrier ...
List FDA approved treatments for androgenetic allopecia
Recently, in addition to the two currently approved U.S. Food and Drug Administration (FDA) medications (minoxidil and finasteride), a novel device was FDA-approved for the treatment of hair loss, the laser hair comb.
BACKGROUND: Over the last decade surgical management of hair loss has become an increasingly popular and satisfying procedure for both men and women, as innovations in donor harvesting, graft size, and hairline design have resulted in consistently natural-appearing hair restoration. OBJECTIVE: In addition, a better ...
Which bone protein is used in archaelogy for dating and species identification?
Collagen is the main protein extracted from bones and analyzed by mass spectrometry. It is traditionally used for radiocarbon dating but sophisticated new technologies are using collagen for species identification as well.
Mass spectrometric analysis of the stable carbon isotope composition (13C/12C or delta 13C) of bone collagen from human remains recovered at archaeological sites provides a direct chemical method for investigating dietary patterns of prehistoric human populations. This methodology is based on the facts that (1) dif...
Does thyroid hormone affect cardiac remodeling ?
Cardiac function and mechanics are significantly affected by low thyroid function. l-T4 therapy improves but does not completely recover cardiac function in patients with mild hypothyroidism. Long-term T4 treatment after myocardial infarction has beneficial effects on myocyte, arteriolar, and collagen matrix remodeling...
Thyroid hormone directly affects the heart and peripheral vascular system. The hormone can increase myocardial inotropy and heart rate and dilate peripheral arteries to increase cardiac output. An excessive deficiency of thyroid hormone can cause cardiovascular disease and aggravate many preexisting conditions. In ...
What is the effect of SAHA treatment in Huntington's disease?
Suberoylanilide hydroxamic acid (SAHA), a histone deacetylase inhibitor, protects dopaminergic neurons from neurotoxin-induced damage. SAHA is predominantly an inhibitor of class I HDACs. However, it can also bind to class IIa HDACs and has been shown to degrade class IIa HDACs at the protein level in vitro. The neurop...
Huntington's disease (HD) is an inherited, progressive neurological disorder caused by a CAG/polyglutamine repeat expansion, for which there is no effective disease modifying therapy. In recent years, transcriptional dysregulation has emerged as a pathogenic process that appears early in disease progression. Admini...
What is known about the role of mHealth in the prevention of disease?
Most reported uses of mHealth are for treatment, we identified report on approaches to child obesity prevention.
Mobile phones have been shown effective in several public health domains. However, there are few evaluations of the effectiveness of mobile health in health promotion. Also, although many studies have referenced behavioral theory, none appears to have explicitly tested theoretical assumptions or demonstrated mechan...
Which receptors are targeted by suvorexant?
Suvorexant is a potent, selective, and orally bioavailable antagonist of orexin 1 receptor and orexin 2 receptor currently under clinical investigation as a novel therapy for insomnia.
The first example of an intramolecular asymmetric reductive amination of a dialkyl ketone with an aliphatic amine has been developed for the synthesis of Suvorexant (MK-4305), a potent dual Orexin antagonist under development for the treatment of sleep disorders. This challenging transformation is mediated by a nov...
Is armodafinil used for treatment of insomnia?
No, armodafinil is not used for treatment of insomnia. Armodafinil is a wakefulness-promoting medication. Its efficacy and tolerability have been established in patients with excessive sleepiness (ES) associated with treated obstructive sleep apnea (OSA), shift work disorder (SWD), or narcolepsy. The wakefulness-promot...
OBJECTIVE: This study assessed the efficacy and safety of armodafinil, the longer half-life etiomer of modafinil, for the treatment of excessive sleepiness in patients with narcolepsy. RESEARCH DESIGN AND METHODS: This was a multicenter double-blind study with 196 patients (aged 18-65 years) randomized to receive ar...
A common problem in proteomics is the contamination of samples with exogenous proteins (often from other species). These proteins can be found in specific databases. List some contaminants.
Some common contaminants in proteomics are proteases (used for the digestion of the proteins), keratins (usually from the skin), proteins originated from the serum of the culture media and antibodies if used in the experiment.
Unmatched masses are often observed in the experimental peptide mass spectra when database searching is performed with the ProFound program. Comparison between theoretical and experimental mass spectra of standard proteins shows that contamination accounts for most of the unmatched masses. In this retrospective ana...
Which gene has been implicated in Majeed Syndrome?
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).
BACKGROUND: Majeed syndrome is an autosomal recessive, autoinflammatory disorder characterised by chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. The objectives of this study were to map, identify, and characterise the Majeed syndrome causal gene and to speculate on its function...
What is Trypan blue used for?
Trypan blue is used in the "trypan blue exclusion assay" for assessing cell viability/cell death.
Baicalin is one of the major compounds in the traditional Chinese medicinal herb from Scutellaria baicalensis Georgi. We investigated the molecular mechanisms of cell autophagy induced by baicalin in human bladder cancer T24 cells. Baicalin inhibited cell survival as shown by MTT assay and increased cell death by tr...
Selexipag is used for which disease?
Selexipag is a novel, oral, selective prostacyclin (PGI2) receptor agonist in clinical development for the treatment of pulmonary arterial hypertension.
In this phase 2 proof-of-concept study we examined the safety and efficacy of selexipag, an orally available, selective prostacyclin receptor (IP receptor) agonist, as a treatment for pulmonary arterial hypertension (PAH). 43 adult patients with symptomatic PAH (receiving stable endothelin receptor antagonist and/o...
How does ranolazine affect kinase signaling activation in the heart?
Ranolazine inhibits Ca(2+)/calmodulin kinase II (CaMKII) activity
Late Na(+) current (I(NaL)) and Ca(2+)/calmodulin-dependent protein kinase II (CaMKII) are both increased in the diseased heart. Recently, CaMKII was found to phosphorylate the Na(+) channel 1.5 (Na(v)1.5), resulting in enhanced I(NaL). Conversely, an increase of I(NaL) would be expected to cause elevation of intra...
List features of the DEND syndrome.
Clinical features of the DEND syndrome include developmental delay, epilepsy and neonatal diabetes.
Permanent neonatal diabetes (PNDM) is diagnosed in the first three months of life and is a major management problem as patients require lifelong insulin injections. Recently, activating mutations in the KCNJ11 gene which encodes the Kir6.2 subunit of the KATP channels in the pancreatic beta-cells were found to be a...
What is the RESID database?
The RESID Database of Protein Modifications is a comprehensive collection of annotations and structures for protein modifications and cross-links including pre-, co-, and post-translational modifications
Because the number of post-translational modifications requiring standardized annotation in the PIR-International Protein Sequence Database was large and steadily increasing, a database of protein structure modifications was constructed in 1993 to assist in producing appropriate feature annotations for covalent bin...
Pridopidine has been tested for treatment of which disorder?
Pridopidine is a dopaminergic stabilizer that has shown promising results for treatment of Huntington disease patients.
The CHDI Fifth Annual HD Therapeutics Conference, held in Palm Springs, CA, included topics covering new therapeutic developments in the field of Huntington's disease (HD). This conference report highlights presentations on biomarkers in HD; emerging topics in drug targeting, such as the lysosomal degradation pathw...
Are there currently applications of deep learning in genomics?
Yes. Deep learning has been used so far in genomics for predicting splicing patterns in individual tissues and differences in splicing patterns across tissues. The deep architecture surpasses the performance of the previous Bayesian method for predicting alternative splicing (AS) patterns.
Author information: (1)Department of Electrical and Computer Engineering, University of Toronto, Toronto, Ontario M5S 3G4, Banting and Best Department of Medical Research, University of Toronto, Toronto, Ontario M5S 3E1, Canada and Canadian Institute for Advanced Research, Toronto, Ontario M5G 1Z8, CanadaDepartment ...
Are CpG islands located close to housekeeping genes?
Our analysis indicates that the association of CGIs with housekeeping genes is not as strong as previously estimated. These regions represent about 1% of genomic DNA and are generally found in the promoter region of housekeeping genes. In housekeeping and many tissue-specific genes, the promoter is embedded in a so-cal...
CpG islands are short, dispersed regions of unmethylated DNA with a high frequency of CpG dinucleotides relative to the bulk genome. We have analyzed 375 genes and 58 pseudogenes from the human entries in the EMBL Database for the presence of CpG islands. All 240 islands identified are associated with genes, and al...
Is COL5A2 gene associated to ischemic heart disease?
Analysis of a gene co-expression network establishes robust association between Col5a2 and ischemic heart disease
Which is the target of bortezomib used in cancer therapy?
Bortezomib is a potent and specific reversible ubiquitin/proteasome pathway inhibitor, which has shown strong in vitro antitumor activity as single agent and in combination with other cytotoxic drugs in a broad spectrum of hematological and solid malignancies.
E3 ubiquitin ligases are a large family of proteins that can be classified into three major structurally distinct types: N-end rule E3s, E3s containing the HECT (Homology to E6AP C-Terminus) domain, and E3s with the RING (Really Interesting New Gene) finger, including its derivatives, the U- Box and the PHD (Plant ...
Have microRNAs been implicated in pharmacogenomics?
Yes. MicroRNAs have been implicated in pharmacogenomics.
MicroRNAs (miRNAs) are short non-coding RNA molecules playing regulatory roles by repressing translation or cleaving RNA transcripts. Although the number of verified human miRNA is still expanding, only few have been functionally described. However, emerging evidences suggest the potential involvement of altered re...
Which genes are known to be involved in Diamond-Blackfan anemia?
Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents during the first year of life. The disease has been associated with point mutations and large deletions in ten ribosomal protein (RP) genes RPS19, RPS24, RPS17, RPL35A, RPL5, RPL11, RPS7, RPS10, RPS26, and RPL26, as well as in GA...
BACKGROUND: Diamond-Blackfan anemia is a rare, clinically heterogeneous, congenital red cell aplasia: 40% of patients have congenital abnormalities. Recent studies have shown that in western countries, the disease is associated with heterozygous mutations in the ribosomal protein (RP) genes in about 50% of patients...
Is nicotinamide effective for skin cancer prevention?
Yes, oral nicotinamide is safe and effective in reducing the rates of new nonmelanoma skin cancers and actinic keratoses in high-risk patients.
BACKGROUND: Ultraviolet (UV) radiation can profoundly suppress the cutaneous immune system, thus enhancing carcinogenesis. Agents that prevent UV-induced immunosuppression may thus reduce skin cancer. Nicotinamide (vitamin B3) prevents UV-induced immunosuppression and carcinogenesis in mice, and solar-simulated (ss...
Which is the chromosomal location of the gene MAOA?
The MAOA gene is locatad on chromosome X (Xp21-p11).
An essentially full-length cDNA clone for the human enzyme monoamine oxidase type A (MAO-A) has been used to determine the chromosomal location of a gene encoding it. This enzyme is important in the degradative metabolism of biogenic amines throughout the body and is located in the outer mitochondrial membrane of m...
Do Parkinson's disease patients experience stridor?
Yes. Stridor has been described in Parkinon's disease patients. Stridor has been linked to deep brain stimulation and L-Dopa medication use. However, stridor was shown to be more common in multiple system atrophy patients.
A patient is described with idiopathic Parkinson's disease and severe laryngeal stridor. Other than urinary frequency and urgency, not uncommon in this condition, and postoperative levodopa-sensitive postural hypotension, there were no features of generalized autonomic failure. The laryngeal stridor responded to le...
Which depression rating scales were shown to have acceptable psychometric properties for screening of poststroke depression?
The Center of Epidemiological Studies-Depression Scale, Hamilton Depression Rating Scale, and the Patient Health Questionnaire, The Beck Depression Inventory, Hospital Anxiety and Depression Scale-depression subscale, Montgomery-Asberg Depression Rating Scale, Poststroke Depression Rating Scale and Clinical Global Impr...
OBJECTIVE: To determine which screening instrument is most suitable for detecting depression in Chinese stroke patients. METHOD: A random sample of 60 Chinese subjects recruited from consecutively admitted patients with first-ever stroke to a rehabilitation facility were assessed using the Visual Analogue Mood Scale...
What is the mechanism of action of trichostatin A (TSA) as an antitumoral agent?
Trichostatin A (TSA) exerts antitumoral activity as a histone deacetylase inhibitor
The potential anticancer activities of histone deacetylase (HDAC) inhibitors and DNA methyltransferase (DNMT) inhibitors have been extensively studied in recent years. HDAC inhibitors suppress the activities of multiple HDACs, leading to an increase in histone acetylation. This histone acetylation induces an enhance...
Is there an association between serum interleukin-6 concentrations and outcomes of stroke patients?
Yes. Greater serum interleukin-6 concentrations are associated with worse outcomes in ischemic and hemmorhagic stroke patients
The onset of cerebral ischaemia triggers a cascade of proinflammatory molecular and cellular events. Clinical studies suggest that the strength of this acute response is important in early and late clinical outcomes, early clinical worsening, and extent of brain damage. Variables that are predictors of adverse stro...
Could bioprinting be used in regenerative medicine against bone disease?
The developments in bioprinting (3D cell printing) techniques will be used in regenerative medicine and may allow the fabrication of customized implants for patients suffering in bone diseases in the future, once several technological limitations are addressed.
Improvements have been made in regenerative medicine, due to the development of tissue engineering and cellular therapy. Bone regeneration is an ambitious project, leading to many applications involving skull, maxillofacial, and orthopaedic surgery. Scaffolds, stem cells, and signals support bone tissue engineering...
Idarucizumab is an antidote of which drug?
Idarucizumab is an antidote of Dabigatran. It is used for Dabigatran Reversal.
Lack of specific antidotes is a major concern in intracerebral hemorrhage (ICH) related to direct anticoagulants including dabigatran (OAC-ICH). We examined the efficacy of idarucizumab, an antibody fragment binding to dabigatran, in a mouse model of OAC-ICH. Dabigatran etexilate (DE) dose-dependently prolonged dilu...
What are the main clinical characteristics of Pendred syndrome?
Pendred syndrome is an autosomal recessive disorder characterized by congenital sensorineural deafness, goiter, and impaired iodide organification.
OBJECTIVE: Pendred's syndrome is an association between congenital neurosensory deafness and goitre with abnormal discharge of iodide following perchlorate challenge, indicating a defect of iodide organification. Although Pendred's syndrome may cause up to 7.5% of all cases of congenital deafness, the molecular bas...
What is the Pfam database?
The Pfam database provides a collection of curated protein families.
Pseudofam (http://pseudofam.pseudogene.org) is a database of pseudogene families based on the protein families from the Pfam database. It provides resources for analyzing the family structure of pseudogenes including query tools, statistical summaries and sequence alignments. The current version of Pseudofam contain...
What is a popular mesaure of gene expression in RNA-seq experiments?
A commonly used measure for gene expression in RNA-seq experiments is Reads Per Kilobase per Million mapped reads (RPKM). In ocasions, and to account for partially mapped read, read Fragments per Kilobase per Million mapped reads (FPKM) is alternatively used.
Targeted RNA-Seq combines next-generation sequencing with capture of sequences from a relevant subset of a transcriptome. When testing by capturing sequences from a tumor cDNA library by hybridization to oligonucleotide probes specific for 467 cancer-related genes, this method showed high selectivity, improved muta...
Is macroautophagy a selective degradation process?
Yes. Macroautophagy (commonly referred to simply as autophagy) is a catabolic process conserved throughout the eukaryotes, and is distinct from other forms of autophagy by the formation of the autophagosome: this is a vesicle-like formation surrounded by a double membrane that sequesters the cytoplasmic material to be ...
The rate of proteolysis is an important determit of the intracellular protein content. Part of the degradation of intracellular proteins occurs in the lysosomes and is mediated by macroautophagy. In liver, macroautophagy is very active and almost completely accounts for starvation-induced proteolysis. Factors inhib...
Inhibition of which enzyme is mechanism of action of alisertib?
Alisertib (MLN8237) is selective Aurora kinase inhibitor that acts by interfering with spindle organization and chromosome alignment during mitosis. It has been tested in patients with gastric cancer, breast cancer, relapsed and refractory aggressive B- and T-cell non-Hodgkin lymphomas, epithelial ovarian, fallopian tu...
The Aurora kinases (serine/threonine kinases) were discovered in 1995 during studies of mutant alleles associated with abnormal spindle pole formation in Drosophila melanogaster. They soon became the focus of much attention because of their importance in human biology and association with cancer. Aurora kinases are...
List the three most prevalent pathogenic species of Borrelia in Europe.
The most prevalent pathogenic species of Borrelia in Europe are: B. afzelii, B. garinii and B. burgdorferi ss.
Ixodes ricinus is the most important tick species in Europe as it is most widely distributed and transmits the majority of tick-borne zoonotic pathogens. As limited data are available for Hungary, the aim of the present study was to investigate the seasonal timing of questing by I. ricinus and the infection rate of...
Which thyroid hormone transporter is implicated in thyroid hormone resistance syndrome?
thyroid hormone transporter MCT8 is implicated in thyroid hormone resistance syndrome
Generalized resistance to thyroid hormone (GRTH) encompasses a heterogeneous group of conditions characterized by reduced responses of target tissues to thyroid hormone due to defects at the site of hormone action. In the majority of patients, GRTH is inherited as a domit trait associated with mutations in the horm...
Which are the subunits of the transcription factor NF-kappaB in the canonical pathway activation?
The NF-κB canonical pathway is mediated by the p65/relA and p50 subunits.
The inflammatory response is of major importance in host defence, but is involved in all acute and chronic diseases. Multiple inflammatory cells and molecules are involved. Among the latter, the Nuclear Factor -κB (NF-κB) has been found to be most important and present in all cell types. NF-B regulates the expressi...
Is there any link between conserved noncoding elements and alternative splicing in vertebrates?
Yes. Some of the most highly conserved sequences occur in genes encoding RNA binding proteins, particularly the RNA splicing-associated SR genes.
In vertebrates, conserved noncoding elements (CNEs) are functionally constrained sequences that can show striking conservation over >400 million years of evolutionary distance and frequently are located megabases away from target developmental genes. Conserved noncoding sequences (CNSs) in plants are much shorter, ...
Which protein is affected by dusp8 activation?
dusp8 (M3/6) is a dual-specificity phosphatase selective for JNK.
Oxidative stress activates the c-Jun N-terminal kinase (JNK) pathway. However, the exact mechanisms by which reactive oxygen species (ROS) activate JNK are unclear. We found that the ability of hydrogen peroxide (H(2)O(2)) to induce JNK activation varied in different cell types. Pyrrolidine dithiocarbamate (PDTC), a...
Which receptors are targeted by a drug Macitentan?
Endothelin receptor A and endothelin receptor B are targeted by a drug Macitentan. Macitentan is a potent, orally active, non-peptide dual antagonist of endothelin receptors A and B that is approved for the treatment of pulmonary arterial hypertension.
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...
What is known as the cause of subacute thyroiditis?
Most cases of subacute thyroiditis are caused by a variety of viruses, for example, Coxsackie, cytomegalovirus, Epstein-Barr virus, and adenovirus
A 34-year-old woman was referred to our hospital complaining of sore throat and arthralgia. She had low-grade fever, tachycardia, and goiter with tenderness. Laboratory data revealed thyrotoxicosis and tests for acute inflammatory markers were positive. Thyroidal radioactive iodine uptake was below normal. Ultrason...
Which drugs are utilized to treat eosinophilic esophagitis?
Therapeutic options of eosinophilic esophagitis include use of proton-pump inhibitors, immunosuppressive drugs, elimination diets, and esophageal dilatation. Oral viscous budesonide (OVB) is an effective treatment of pan-esophageal disease in children with EoE. OVB improves symptoms and endoscopic and histologic featur...
BACKGROUND: Both gastroesophageal reflux disease and allergy/atopy have been implicated in the pathogenesis of eosinophilic esophagitis (EoE). There are no prospective studies comparing treatment of EoE with acid suppression versus topical corticosteroids. OBJECTIVE: To determine the outcome of adult eosinophilic es...
What is the incidence of cystic fibrosis in the caucasian population?
Estimates of the newborn frequency of cystic fibrosis in different Caucasian groups range from 4 times more to 40 times less common than the generally accepted figure of 1:2000.
Estimates of the newborn frequency of cystic fibrosis in different Caucasian groups range from 4 times more to 40 times less common than the generally accepted figure of 1:2000. Current meconium screening trials which may be effective in populations with the incidence equal to or greater than 1:2000, may be useful ...
What is the effect of thapsigargin treatment?
Thapsigargin is an endoplasmic stress inducer. It is a sarcoplasmic/endoplasmic Ca(2+)-ATPase (SERCA) inhibitor.
Autophagy is the process by which portions of cytoplasm are enclosed by membranous organelles, phagophores, which deliver the sequestered cytoplasm to degradative autophagic vacuoles. Genes and proteins involved in phagophore manufacture have been extensively studied, but little is known about how mature phagophore...
What is the Her2 status in Li-Fraumeni syndrome?
In the background of a germline TP53 mutation of the Li-Fraumeni syndrome, the Her2 status was found to be positive in 63-83% of the cases.
BACKGROUND: Germline TP53 mutations predispose to early onset breast cancer in women and are associated with Li-Fraumeni syndrome. Published data on the pathological characteristics of breast cancer among women with TP53 mutations is limited. METHODS: We retrospectively reviewed the clinical records of women who und...
Where is X-ray free electron laser used?
X-ray free electron laser (XFEL) technologies provide coherent and extremely intense photon pulses of short duration. XFELs are particularly useful in structural biology and imaging, in structural studies of single biological macromolecules (e.g. high resolution protein structure determination) and assemblies (e.g. vir...
Membrane proteins constitute > 30% of the proteins in an average cell, and yet the number of currently known structures of unique membrane proteins is < 300. To develop new concepts for membrane protein structure determination, we have explored the serial ocrystallography method, in which fully hydrated protein ocr...
Which protein kinases have been found to phosphorylate Phospholamban and affect its biological activity?
Phosphorylation of phospholamban at Ser16 is mainly mediated by PKA and at Thr17 by Ca(2+) /calmodulin-dependent protein kinase (CaMKII). Phospholamban is also a reporter for PKG activity and akt kinase interacts with and phosphorylates PLN at Thr(17).
Phospholamban is the major membrane protein of the heart phosphorylated in response to beta-adrenergic stimulation. In cell-free systems, cAMP-dependent protein kinase catalyzes exclusive phosphorylation of serine 16 of phospholamban, whereas Ca2+/calmodulin-dependent protein kinase gives exclusive phosphorylation ...
Why can't humans synthesize Neu5Gc (N-Glycolylneuraminic acid)?
N-Glycolylneuraminic acid (Neu5Gc) is a sialic acid synthesized by animals, but not by humans or birds. Humans lack a functional cytidine monophosphate-N-acetylneuraminic acid hydroxylase (CMAH) protein and cannot synthesize the sugar Neu5Gc, an innate mammalian signal of self. Losing this sugar changed how humans inte...
A concern recently has been raised that human embryonic stem cell (HESC) lines cultured with currently available methods may have limited clinical usefulness due to the immunogenicity of the nonhuman sialic acid Neu5Gc incorporated into their membranes during culturing. We find this concern has little relevance to ...
Which enzyme is inhibited by Orteronel?
Orteronel inhibits the 17,20 lyase activity of the enzyme CYP17A1, which is important for androgen synthesis in the testes, adrenal glands and prostate cancer cells. Orteronel is used for treatment for castration-resistant prostate cancer.
A novel naphthylmethylimidazole derivative 1 and its related compounds were identified as 17,20-lyase inhibitors. Based on the structure-activity relationship around the naphthalene scaffold and the results of a docking study of 1a in the homology model of 17,20-lyase, the 6,7-dihydro-5H-pyrrolo[1,2-c]imidazole der...
What is the disorder in which mutations in U4atac snRNA are detected?
Mutations in U4atac snRNA are thought to be the cause of Microcephalic Osteodysplastic Primordial Dwarfism type I (MOPDI), a recessive form of developmental disorder.
Microcephalic osteodysplastic primordial dwarfism type I (MOPD I) is a rare autosomal recessive developmental disorder characterized by extreme intrauterine growth retardation, severe microcephaly, central nervous system abnormalities, dysmorphic facial features, skin abnormalities, skeletal changes, limb deformati...