Gene in murine and human. Medical search. Frequent questions

Mutations in the BRAF gene are the most common cause of cardiofaciocutaneous syndrome. (medlineplus.gov)
Additional gene mutations in cells within the nevus after birth can lead to melanoma in people with giant congenital melanocytic nevus. (medlineplus.gov)
At least two mutations in the BRAF gene have been found to cause Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome). (medlineplus.gov)
The BRAF gene mutations change single amino acids in the BRAF protein: One mutation replaces the amino acid threonine with the amino acid proline at position 241 (written as Thr241Pro or T241P) and the other mutation replaces the amino acid leucine with the amino acid phenylalanine at position 245 (written as Leu245Phe or L245F). (medlineplus.gov)
[ 2 ] Mutations in the NBN ( NBS1) gene located in band 8q21 are responsible for Nijmegen breakage syndrome. (medscape.com)
Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
INTRODUCTION: Interpretation of results from mutation screening of tumour suppressor genes known to harbour high risk susceptibility mutations, such as APC, BRCA1 , BRCA2 , MLH1 , MSH2 , TP53 , and PTEN , is becoming an increasingly important part of clinical practice. (xenbase.org)
Interpretation of truncating mutations, gene rearrangements, and obvious splice junction mutations, is generally straightforward. (xenbase.org)
An improved method for determining codon variability in a gene and its application to the rate of fixation of mutations in evolution. (xenbase.org)
Understanding missense mutations in the BRCA1 gene: an evolutionary approach. (xenbase.org)
Frequent inactivating mutations of the ATM gene have been reported in patients with rare sporadic T cell prolymphocytic leukaemia (T-PLL), B cell chronic lymphocytic leukaemia (B-CLL), and most recently, mantle cell lymphoma (MCL). (bmj.com)
The presence of inactivating mutations, together with the deletion of the normal copy of the ATM gene in some patients with T-PLL, B-CLL, and MCL, establishes somatic inactivation of the ATM gene in the pathogenesis of lymphoid malignancies, and strongly suggests that ATM functions as a tumour suppressor. (bmj.com)
We are investigating the impact of specific classes of gene mutations, such as ATM, BRCA1, and MYBL2 on genome integrity. (birmingham.ac.uk)
Mutations can occur in any area of the gene. (medscape.com)
Animal models of human BTK mutations are confined to mice at this time. (medscape.com)
Murine gene mutations in human counterparts may be associated with a clinical illness different from the illness seen in mice. (medscape.com)

We delivered human RPGR-ORF15 replacement genes with deletion of most (314 codons, 'short form') or 1/3 (126 codons, 'long form') of the linker region to Rpgr null mice. (ed.ac.uk)
Housing conditions and culture, such as courtyards with vegetation and presence of pets, in several suburban areas of Yucatán encourage close contact between humans and possible reservoirs for several infectious diseases, such as mice, rats, opossums, dogs and cats, and their ectoparasites ( 9 ). (cdc.gov)
We then sequenced exons 10,12, and 33 of the mouse Tg gene in 19 strains of mice. (elsevierpure.com)
We concluded that Tg is a susceptibility gene for AITD, both in humans in and in mice. (elsevierpure.com)
Because of cross-species concordance, QTL and their underlying candidate genes can first be identified, cost-effectively, in mice and then the genes can be tested relatively easily in humans and verified in mice. (jax.org)
The association between mutation of the ATM gene and a high incidence of lymphoid malignancy in patients with AT, together with the development of lymphoma in Atm deficient mice, supports the proposal that inactivation of the ATM gene may be of importance in the pathogenesis of sporadic lymphoid malignancy. (bmj.com)
But, in mice where the gene couldn't be activated in the gut, TH17 cells that were exposed to bile acids suffered severe oxidative stress. (sciencedaily.com)
Mice transplanted with these human muscle stem cells develop hybrid muscle fibers with both murine and human cellular components. (ca.gov)
These mice are useful models to provide more accurate assessment of the efficacy of gene therapy strategies using viral vectors in pre-clinical studies. (ca.gov)
To address this key question, we used in vivo time-course analysis of OA development and murine interstrain variability in natural susceptibility to OA to examine changes in non-OA-prone CBA mice versus OA-prone STR/Ort mice, which develop disease that bears significant histologic resemblance to human OA. (bepress.com)
Affymetrix Mouse Gene 1.0 ST Array profiles were generated from AC samples derived from CBA and STR/Ort mice at 3 different ages, corresponding to the stages prior to, at, and late after the natural onset of OA in the STR/Ort mice. (bepress.com)
We found that the OA in STR/Ort mice exhibited a molecular phenotype resembling human OA, and we pinpointed a central role of NF-κB signaling and the emergence of an immune-related signature in OA cartilage over time. (bepress.com)
We discovered that, strikingly, young healthy AC has a highly expressed skeletal muscle gene expression program, which is switched off during maturation, but is intriguingly retained in AC during OA development in STR/Ort mice. (bepress.com)
The human VISTA expression pattern in homozygous mice is similar to murine VISTA in wild-type mice. (genoway.com)
This study investigates the systemic and immune effects of dermal exposure to PFHpS in a murine model (B6C3F1, female mice). (cdc.gov)
Ultraconserved regions are noncoding genomic segments that are 100% conserved across humans, mice, and rats. (gla.ac.uk)
However, murine models, including knockout and transgenic mice, have been useful in understanding the mechanisms of B lymphopoiesis, B-cell differentiation, and antibody formation. (medscape.com)
1986. Immunomodulation by polyaromatic hydrocarbons in mice and murine cells. (cdc.gov)
In addition, TH5487 decreases levels of pro-inflammatory mediators, inflammatory cell infiltration, and lung remodeling in a murine model of bleomycin-induced pulmonary fibrosis conducted in male C57BL6/J mice. (lu.se)
Although a defect in the chemokine receptor CX3CR1 increases susceptibility of mice and humans to systemic candidiasis, it does not in mucosal candidosis. (medscape.com)
In mice, overexpression of human SORLA in murine adipose tissue blocked hydrolysis of triacylglycerides and caused excessive adiposity. (medscape.com)
Sorl1 gene knockout in mice accelerated the breakdown of triacylglycerides in adipocytes and protected the animals from diet-induced obesity. (medscape.com)

The expression of 10 adipogenesis-regulated miRNAs were studied using real-time qPCR and then we selected 5 miRNAs, that showed robust expression, were profiled in subcutaneous adipose tissue obtained from 20 humans with a range of body mass indices (BMI, range = 21-48, and all samples have U133+2 Affymetrix profiles provided). (biomedcentral.com)
In conclusion, we provide a preliminary analysis of miRNAs associated with primary cell in vitro adipogenesis and demonstrate that the inflammation-associated miRNA, mir-21 is up-regulated in subcutaneous adipose tissue in human obesity. (biomedcentral.com)
Most of the lipid reserves in the human body are stored in white adipose tissue (WAT) that predominates in adult humans. (biomedcentral.com)

The X-linked RP3 gene codes for the ciliary protein RPGR and accounts for over 10% of inherited retinal degenerations. (ed.ac.uk)
Lymphocyte-activation gene 3, also known as LAG-3, is a protein which in humans is encoded by the LAG3 gene. (wikipedia.org)
The BRAF gene provides instructions for making a protein that helps transmit chemical signals from outside the cell to the cell's nucleus. (medlineplus.gov)
Orthologous to human DRG1 (developmentally regulated GTP binding protein 1). (nih.gov)
Structure of the human protein kinase MPSK1 reveals an atypical activation loop architecture. (nih.gov)
In this study, the cloning and expression of mouse IL-33 gene in Escherichia coli (E. coli ), purification of recombinant protein, and generation of polyclonal antibody against IL-33 are described. (hindawi.com)
The ATM gene encodes a large protein that belongs to a family of kinases possessing a highly conserved C-terminal kinase domain related to the phosphatidylinositol 3-kinase domain. (bmj.com)
What does this gene/protein do? (cancerindex.org)
What pathways are this gene/protein implicaed in? (cancerindex.org)
The other project involves the study of a single nucleotide polymorphism (SNP) in the human p53 gene that results in either arginine (R) or proline (P) at position 72 of the p53 protein. (mdanderson.org)
Although expression of non-protein-coding RNA (ncRNA) can be altered in human cancers, their functional relevance is unknown. (gla.ac.uk)
Although uc.338 is partially located within the poly(rC) binding protein 2 (PCBP2) gene, the transcribed ncRNA encoding uc.338 is expressed independently of PCBP2 and was cloned as a 590-bp RNA gene, termed TUC338. (gla.ac.uk)
7] C albicans prevacuolar protein sorting gene VPS4 is required for extracellular secretion of the secreted aspartyl proteases Sap2p and Saps4-6p. (medscape.com)

The gene for LAG-3 lies adjacent to the gene for CD4 on human chromosome 12 (12p13) and is approximately 20% identical to the CD4 gene. (wikipedia.org)
The human IL-33 gene is located on chromosome 9p24.1, while its mouse counterpart can be found on the syntenic chromosome 19qC1 region [ 2 ]. (hindawi.com)
This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. (nih.gov)
We selected 17 patients clinically and his- is encoded by a single gene located on the tologically proven to be suffering from PV short arm of chromosome 11 [ 6 ]. (who.int)
This mouse carries a trisomy for a large portion of the distal region of the long arm of mouse chromosome 16 that has 60% of all human chromosome 21 homologous genes in this species. (bvsalud.org)

Although HMG proteins do not possess intrinsic transcriptional activity, they are called architectural transcription factors because they modulate the transcription of their target genes by altering the chromatin structure at the promoter and/or enhancers 15 . (nature.com)
The IL-33 cDNA sequences encode 270 and 266 amino acid polypeptides for human and mouse, respectively, corresponding to full-length proteins with calculated masses of 30 and 29.9 kDa [ 2 ]. (hindawi.com)
RafK carries a C-terminal regulatory domain present in a subset of ATP-binding proteins that has been involved in both direct regulation of transporter activity (inducer exclusion) and transcription of transporter genes. (lu.se)

80%) and biological pathways (such as adipocytokine, Notch, Hedgehog and NOD-like receptor signaling) were not identified by previous gene array studies. (mdpi.com)
It is thought that QTL genes are key regulators of interacting biochemical pathways, 3,4 and thus may be potential targets for therapeutic intervention. (jax.org)
We employ screening and targeted testing (CRISPR and small molecule) to ask which genes and pathways are required in B cells and primary lymphoma cells for resistance to lymphoma drugs. (seattlechildrens.org)
We show that failure to switch this program off, as well as the restoration of this program, is associated with inappropriate expression of NF-κB signaling pathways, skeletal muscle-related genes, and induction and/or progression of OA. (bepress.com)

Embryonic DBA/1 mouse fibroblasts were infected with a recombinant retrovirus expressing human EC-SOD. (nih.gov)
Expression of DRG during murine embryonic development. (nih.gov)
Background Laterality in the vertebrate embryo is determined by left-right asymmetric gene expression driven by the flow of extraembryonic fluid across the embryonic node. (bmj.com)

This now enables investigation of how parameters such as clonal expansion relate to gene expression phenotypes [ 28 ], thereby providing novel insights not accessible by bulk sequencing (e.g. (nature.com)

A combination of at least two Tg SNPs conferred susceptibility to human AITD. (elsevierpure.com)
These models are being used to explore the roles of this human SNP in modulating cancer susceptibility and the response to DNA damaging agents, including chemotherapeutic drugs. (mdanderson.org)
Time-series transcriptional profiling yields new perspectives on susceptibility to murine osteoarthritis. (bepress.com)

Using the bioinformatics tool MAGICTRICKS and reversible pharmacological inhibition, we found that primed genes required the transcriptional activities of NF-κB. (frontiersin.org)
Maturation of BAT and WAT follow a similar adipogenic transcriptional program, albeit several genes show cell type-dependent expression. (biomedcentral.com)
This gene encodes a member of the trithorax group of transcriptional activators. (cancerindex.org)

We, therefore, tested the hypothesis that hypoxia would enhance or "prime" microglial pro-inflammatory gene expression in response to a later inflammatory challenge without programmatically increasing basal levels of pro-inflammatory cytokine expression. (frontiersin.org)
We used RNA sequencing coupled with chromatin immunoprecipitation sequencing to analyze primed microglial inflammatory gene expression and modifications to histone H3 lysine 4 trimethylation (H3K4me3) at the promoters of primed genes. (frontiersin.org)
In humans with ALS, the analogous monocytes (CD14+CD16-) exhibited an ALS-specific microRNA inflammatory signature similar to that observed in the ALS mouse model, linking the animal model and the human disease. (nih.gov)
She and co-researchers found significant concordance among mouse, human and rat hypertension QTL, 4 between mouse and human HDL cholesterol QTL, 6 between rat and human kidney disease QTL, 7 between mouse and human atherosclerosis QTL, 8 and among various species for osteoporosis, inflammatory bowel disease, type II diabetes and asthma QTL. (jax.org)
IL-33 can promote survival, adhesion, and cytokine production in human mast cells [ 11 ], but the mechanism behind its involvement in inflammatory conditions remains unclear. (hindawi.com)
To establish the relevance of their findings, the team tested blood samples from healthy humans, as well as those with a variety of inflammatory bowel diseases, including Crohn's. (sciencedaily.com)

To test the hypothesis that the precise length of the linker region is not critical for function, we evaluated whether adeno-associated virus-mediated replacement gene therapy with a human ORF15 variant containing in-frame shortening of the linker region could reconstitute RPGR function in vivo. (ed.ac.uk)
SCL binds the human homologue of DRG in vivo. (nih.gov)
To interrogate the pathogenic potential of the discovered variant, we used an in vivo system in which the potential of the candidate gene to induce L-R asymmetry was tested by transient suppression and CRISPR/Cas9-induced deletions. (bmj.com)
Finally, although not as attenuated as DLDH-negative bacteria, pneumococci lacking RafK were significantly outcompeted by wild-type bacteria in colonization experiments of murine lung and nasopharynx, indicating a role for raffinose and stachyose transport in vivo. (lu.se)

In May 1996 scientists at the University of Florence showed that CD4+ T cells that were LAG-3+ preferentially expressed IFN-γ, and this was up-regulated by IL-12 while in 1997 the same group showed that IFN-γ production was a driver of LAG-3 expression during the lineage commitment of human naive T cells. (wikipedia.org)
The Triebel group in 1998 established that LAG-3 expression on activated human T cells is upregulated by IL-2, IL-7 and IL-12 and also showed that expression of LAG-3 may be controlled by some CD4 regulatory elements. (wikipedia.org)
The BRAF gene mutation that causes this condition is somatic, meaning that it occurs during a person's lifetime and is present only in certain cells. (medlineplus.gov)
We describe the first report of RNA sequencing of 5' capped (Pol II) RNAs isolated from acutely hepatitis C virus (HCV) infected Huh 7.5 cells that provides a general approach to identifying differentially expressed annotated and unannotated genes that participate in viral-host interactions. (mdpi.com)
Using primary human B cells, we developed a murine model for non-Hodgkin's lymphoma. (seattlechildrens.org)
In CaCo-2 colonic epithelial cells, the expression of this gene increases with cell differentiation. (aacrjournals.org)
Accordingly, immunohistochemistry with specific antibodies shows that HMGCS2 is expressed mainly in differentiated cells of human colonic epithelium. (aacrjournals.org)
The DNA within the nuclei of our cells carries the information to generate the machinery of the cell, the cell itself, our tissues and then the whole human. (birmingham.ac.uk)
Interleukin-21 (IL-21) was first identified in 2000 through screening of a cDNA library from CD3+ human T cells [ 1 ]. (intechopen.com)
This study built on previous research from the Sundrud lab, which showed that when TH17 cells entered the intestine in human tissue samples, they increased the expression of a gene called MDR1. (sciencedaily.com)
Our laboratory has developed a method to expand human muscle stem cells in culture conditions that retain their regenerative potency. (ca.gov)
Findings from these studies will give us cues on how to optimize therapeutic strategies involving human muscle stem cells. (ca.gov)
Enpp1-3 gene expression was assayed by real-time PCR in human periodontal ligament (PDL) cells and murine cementoblasts (OCCM-30) under osteogenic conditions. (umich.edu)
The human CTLA-4 expression recapitulates the mouse CTLA-4 expression on T cells. (genoway.com)
Cellular ucRNA expression was modulated with siRNAs, and the effects on global gene expression and growth of human and murine HCC cells were evaluated. (gla.ac.uk)
These effects were experimentally demonstrated in both human and murine cells. (gla.ac.uk)
Transformation of human breast epithelial cells by chemical carcinogens. (cdc.gov)
The small molecule OGG1 inhibitor, TH5487, decreases myofibroblast transition and associated pro-fibrotic gene expressions in fibroblast cells. (lu.se)

LAG3, which was discovered in 1990 and was designated CD223 (cluster of differentiation 223) after the Seventh Human Leucocyte Differentiation Antigen Workshop in 2000, is a cell surface molecule with diverse biologic effects on T cell function. (wikipedia.org)
In the past two decades, QTL analyses have identified well over 2000 QTL associated with such diseases, 1,2,3 and the genes underlying these QTL are being identified at a faster pace than ever. (jax.org)
Genes Dev, 2000 May 15. (nih.gov)

4 - 7 The ATM gene encodes a nuclear phosphoprotein of approximately 350 kDa (3056 amino acids) and is ubiquitously expressed. (bmj.com)
The Angiopoietin-2 (Ang2) gene encodes angiogenic factor, and the polymorphisms of Ang2 gene predict risk of various human diseases. (medsci.org)
While each DNA blueprint, or gene, encodes for a different machine or structure, the genome, the collection of DNA wrapped up inside the nucleus, is much more active than a quiet library of neatly stacked blue-prints. (birmingham.ac.uk)

This study was undertaken to examine the efficacy of extracellular SOD (EC-SOD) gene therapy in murine collagen-induced arthritis. (nih.gov)
The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. (nih.gov)
The double-humanized CD3ε/CD28 mouse model (hCD3ε/hCD28) expresses the human epitope of the CD3ε chain and a chimeric CD28 with a human extracellular domain. (genoway.com)

The BRAF gene belongs to a class of genes known as oncogenes. (medlineplus.gov)
These studies identify a critical role for TUC338 in regulation of transformed cell growth and of transcribed ultraconserved ncRNA as a unique class of genes involved in the pathobiology of HCC. (gla.ac.uk)

Erratum: Enhancement of Adeno-Associated Virus-Mediated Gene Therapy Using Hydroxychloroquine in Murine and Human Tissues. (ox.ac.uk)
HMGCS2 , the gene that regulates ketone body production, is expressed in liver and several extrahepatic tissues, such as the colon. (aacrjournals.org)
We analyse two comprehensive transcriptome datasets from human tissues and human-derived cell lines in terms of the expression profiles of the SLC and ABC families of membrane transporters. (biorxiv.org)
PCBP1 is both reasonably highly expressed and has a low Gini coefficient in both tissues and cell lines, and is an excellent novel housekeeping gene. (biorxiv.org)
We have developed mouse models that mimic this human SNP and have demonstrated that the humanized p53 variants are functional and display the expected difference in apoptotic capacity in mouse tissues. (mdanderson.org)
Among these ucRNAs, the greatest change was noted for ultraconserved element 338 (uc.338), which was dramatically increased in human HCC compared with noncancerous adjacent tissues. (gla.ac.uk)

The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. (nih.gov)
Cadherin superfamily genes: functions, genomic organization, and neurologic diversity. (nih.gov)
3 , 4 The ATM gene is located at 11q22-23, spans 184 kb of genomic DNA, and has 66 exons. (bmj.com)

A far downstream enhancer for murine Bcl11b controls its T-cell specific expression. (ca.gov)

Taken together, this study provides for the first time an in-depth analysis of the transcriptomic alterations that take place in human phagocytes upon infection, and in peripheral blood immune populations during active disease. (frontiersin.org)

Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)

In particular, with some exceptions such as olfactory receptors and genes involved in keratin production, transporter genes are significantly more heterogeneously expressed than are most non-transporter genes. (biorxiv.org)

Molecular subtypes of small cell lung cancer: a synthesis of human and mouse model data. (cancerindex.org)
OGG1 and SMAD7 interact to induce fibroblast proliferation and differentiation and display roles in fibrotic murine and IPF patient lung tissue. (lu.se)

Rickettsia species was determined by sequencing of rickettsial genes. (cdc.gov)
Conservation of gene sequences across species may indicate an essential functional role, and therefore we evaluated the expression of ultraconserved RNAs (ucRNA) in hepatocellular cancer (HCC). (gla.ac.uk)
The importance of whole genome sequencing, which enables determination of virulence, toxin, and antibiotic resistance genes, as well as clear assignment of species and strain identity, is emphasized. (cdc.gov)

The rat HMGCS2 gene contains elements that control its multihormonal regulation and tissue specificity ( 11 - 14 ). (aacrjournals.org)
The humanized PD-1 mouse model (hPD-1) expresses human PD-1 instead of murine PD-1 while the regulation of PD-1 expression is kept under the mouse promoter. (genoway.com)

We evaluated the expression and activation of Notch pathway genes in the adult human and murine corneal epithelium during proliferation. (molvis.org)
The expression of Notch pathway genes in the limbal and central human corneal epithelium was compared by reverse transcription polymerase chain reaction (RT-PCR). (molvis.org)
Conclusions Our data implicate loss of MMP21 as a cause of heterotaxy in humans with concomitant defects in Notch signaling. (bmj.com)

the advantages of using a murine model included small size, easy breeding, short time between generations, production of identical offspring, and the fact that much of their genome has been mapped for homologies with the human genome. (cdc.gov)

At least one mutation in the BRAF gene has been identified in some people with Erdheim-Chester disease. (medlineplus.gov)
The V600E mutation (described above) in the BRAF gene has also been found to cause giant congenital melanocytic nevus. (medlineplus.gov)

70% homology with murine LAG3. (wikipedia.org)

Inactivation of CDKN2A and CDKN2B are found in a wide variety of human malignancies and murine tumor models. (sigmaaldrich.com)

Virus release was evaluated in a murine cell line (L929). (karger.com)
We identified 24 common genes that were significantly altered in both PMNs and PBMCs, including genes involved in IFN signaling that were downregulated after treatment in both cell populations, and IL1R1 that was upregulated. (frontiersin.org)
Bcl11b is a T-cell specific gene in hematopoiesis which begins expression during T- lineage commitment and is required for this process. (ca.gov)
A BAC encompassing the full Bcl11b gene still required addition of the Major Peak to exhibit T-cell specific expression. (ca.gov)
Based on these findings, we propose that ketogenesis is an undesirable metabolic characteristic of the proliferating cell, which is down-regulated through c-Myc-mediated repression of the key metabolic gene HMGCS2 . (aacrjournals.org)
The first project focuses on E2F1, a regulator of genes important for cell cycle progression and apoptosis. (mdanderson.org)
It is a highly conserved network that orchestrates cell-fate decisions in the nervous, gastrointestinal, and the hematopoietic systems of many organisms ranging from insects to humans. (molvis.org)
hCD28 is functional: α-human CD28 co-stimulation induces T cell activation and proliferation. (genoway.com)
Functional gene annotation analysis indicated predominant effects on genes involved in cell growth. (gla.ac.uk)

Research is needed to address some gaps, for example which best animal models to use for safety assessment of live microbes, the possibility of antibiotic resistance gene transfer via transformation, and potential impact of probiotic-induced changes in microbiomes, interactions with drugs, and probiotic colonization.What is the impact Probiotics of sufficient quality for patient populations are being developed and should be used accordingly. (cdc.gov)

That similarity has become all the more evident in the past 15 years as comparative genomics has demonstrated that the location of mouse and other model animal QTL can predict the location of homologous QTL in humans. (jax.org)

also known as CDK4I, Cyclin-dependent kinase 4 inhibitor A, Multiple tumor suppressor 1, MTS-1, p16-INK4, p16-INK4a, p16INK4A) is encoded by the CDKN2A (also known as CDKN2, MTS1) gene (Gene ID 1029) in human. (sigmaaldrich.com)

these often differ significantly from the 'housekeeping' genes commonly used for normalisation in transcriptomics and qPCR studies. (biorxiv.org)
Like RafK, the presence of DLDH also activated the expression of raf operon genes, as DLDH-negative pneumococci showed a significantly decreased expression of aga and rafEFG, but DLDH did not regulate rafK or the putative regulatory genes rafR and rafS. (lu.se)

Using the inbred mouse as a model organism, QTL mapping has become a very important tool for finding the genes that regulate complex human diseases, including atherosclerosis, diabetes, obesity, asthma and hypertension. (jax.org)
We use gene editing to introduce putative resistance-associated genetic variants into this lymphoma model. (seattlechildrens.org)
The humanized STING model, developed by Knockin at the mouse STING locus, expresses a full human STING. (genoway.com)
Systemic and immunotoxicity induced by topical application of perfluoroheptane sulfonic acid (PFHpS) in a murine model. (cdc.gov)
Furthermore, the vps4Δ null mutant has been shown to be markedly hypovirulent in a murine model. (medscape.com)

Thus, as an alternative, we produced EXIQON microarray of brown and white primary murine adipocytes (prior to and following differentiation) to yield global profiles of miRNAs. (biomedcentral.com)

Gene expression and cytokine/chemokine secretion were assessed by real-time PCR and multiplex assay, respectively. (karger.com)

The LAG3 gene contains 8 exons. (wikipedia.org)
We sequenced all 48 exons of the Tg gene and identified 14 single-nucleotide polymorphisms (SNPs). (elsevierpure.com)
Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. (nih.gov)
The BTK gene is large and consists of 19 exons that encode the 659 amino acids that form the Btk cytosolic tyrosine kinase. (medscape.com)

Transient mismatch repair gene transfection for functional analysis of genetic hMLH1 and hMSH2 variants. (xenbase.org)
The AT locus was mapped to the chromosomal region 11q22-23 using genetic linkage analysis in the late 1980s and the causative gene was identified by positional cloning several years later. (bmj.com)
However, our understanding of the genetic causality for laterality defects in human beings remains relatively limited. (bmj.com)
Genetic polymorphism of CYP genes, alone or in combination, as a risk modifier of tobacco-related cancers. (cdc.gov)
The genetic etiology of human NTDs remains poorly understood despite intensive investigation. (cdc.gov)
Researchers from the Max Delbrück Center for Molecular Medicine in Berlin, Germany, have published a study detailing the metabolic function of the intracellular sorting receptor SORLA, a known genetic risk factor for Alzheimer's disease , in a new role regulating metabolism in human obesity . (medscape.com)
The authors concluded that Sorl1 is associated with human obesity, and their findings confirm a genetic link between neurodegeneration and metabolism that converges on SORLA. (medscape.com)

Predictive identification of exonic splicing enhancers in human genes. (xenbase.org)

GST-tagged recombinant human p16INK4a internal fragment. (sigmaaldrich.com)

Methods: Following a 28-day sub-chronic dermal exposure to PFHpS (0.3125%, 0.625%, and 1.25% or 7.8-15.6mg/kg/day) organ weight, serum chemistry, histology, immune phenotype, and gene expression were analyzed. (cdc.gov)

Surprisingly, however, the majority of primed genes were not enriched for H3K4me3 acutely following hypoxia exposure. (frontiersin.org)

The use of various strains in studies of genes and age related or noise related hearing loss was described. (cdc.gov)

Two recent microarray studies have shown that genes involved in oxidative phosphorylation (OXPHOS) exhibit reduced expression levels in the skeletal muscle of type 2 diabetic subjects and prediabetic subjects. (diabetesjournals.org)

This phenomenon was first revealed between laboratory rat and human hypertension QTL. (jax.org)

Three PCR amplicons of both genes were fully sequenced and compared with sequences in GenBank. (cdc.gov)

Immunohistochemistry Analysis: A 1:50 dilution from a representative lot detected p16INK4a in human kidney and small intestine tissue sections. (sigmaaldrich.com)

Kouchakzadeh H, Shojaosadati SA, Shokri F. Efficient loading and entrapment of tamoxifen in human serum albumin based nanoparticulate delivery system by a modified desolvation technique. (springer.com)
Although multiple PFAS are detectable in human serum, research is needed to identify and characterize the potential biological effects of each PFAS and the specificity pf these effects to the exposure route. (cdc.gov)
One such PFAS commonly detected in human serum is perfluoroheptane sulfonate (PFHpS). (cdc.gov)

Human and mouse IL-33 are 55% identical at the amino acid level. (hindawi.com)
Mouse models have milder disease than humans. (medscape.com)
One of the obvious advantages in the use of animal models, especially the mouse (Mus musculus), is our ability to perform scientific studies that are technically or ethically not permissible in human beings. (bvsalud.org)

2004), Analysis of missense variation in human BRCA1 i. (xenbase.org)
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. (xenbase.org)
A human BRCA1 gene knockout. (xenbase.org)
We recently discovered new ways the BRCA1 gene functions which could help expand our understanding of the development of ovarian and breast cancers. (birmingham.ac.uk)

The factors responsible for the postnatal and starvation-associated induction of HMGCS2 gene expression have been identified and shown to involve changes in circulating hormone and fatty acid levels. (aacrjournals.org)

This study is the first to show that AC chondrocytes share a high-abundance gene-expression program with skeletal muscle. (bepress.com)

However, the efficacy of using pyroptosis-related genes (PRGs) in predicting the prognosis of pancreatic adenocarcinoma (PAAD) patients is unknown. (hindawi.com)

In addition to the cellular energy sensor AMP kinase, the peroxisome proliferator-activated receptor cofactors PGC1α ( 5 , 6 , 7 ) and possibly PGC1β ( 8 ) activate mitochondrial biogenesis and increase OXPHOS gene expression by increasing the transcription, translation, and activation of the transcription factors necessary for mitochondrial DNA (mtDNA) replication. (diabetesjournals.org)

Gene-gene interaction studies provided evidence for an interaction between HLA-DR3 and the exon 33 SNP, giving an odds ratio of 6.1 for Graves' disease. (elsevierpure.com)
The human and murine protocadherin-beta one-exon gene families show high evolutionary conservation, despite the difference in gene number. (nih.gov)

The microenvironments of the low- and high-risk groups were assessed using xCell, the expression of immune checkpoints was determined, and gene set variation analysis (GSVA) was performed. (hindawi.com)

In 362 overweight people, they observed gene-dosage effects that link SORLA expression to obesity and glucose tolerance. (medscape.com)

Anatomy37

Organisms41

Diseases23

Chemicals and Drugs61

Analytical, Diagnostic and Therapeutic Techniques and Equipment38

Phenomena and Processes62

Disciplines and Occupations1

Information Science3

Health Care1

Mutations16

Mice22

Adipose tissue3

Protein13

Chromosome5

Proteins3

Pathways4

Embryonic3

Phenotypes1

Susceptibility3

Transcriptional3

Inflammatory6

Vivo4

Cells18

20003

Encodes3

Extracellular3

Class of genes2

Tissues6

Genomic3

Enhancer1

Infection1

Datasets1

Transporter genes1

Lung2

Species3

Regulation2

Notch3

Genome1

Mutation2

Homology1

Malignancies1

Cell9

Colonization1

Homologous1

Tumor1

Significantly2

Model5

Differentiation1

Cytokine1

Exons4

Genetic7

Enhancers1

Recombinant1

Methods1

Acutely1

Strains1

Microarray1

Laboratory1

Sequences1

Tissue1

Serum3

Mouse3

BRCA14

Induction1

Skeletal Muscle1

Efficacy1

Transcription1

Exon2

Immune1

Obesity1