• Mutations in the MPC2 gene cause an autosomal recessive disease comparable to the symptoms of Mitochondrial pyruvate carrier deficiency (MPC1 gene). (wikipedia.org)
  • The symptoms associated with mutations in the MPC2 gene include early-onset neurological problems, normal lactate/pyruvate ratio (however both lactate and pyruvate are in higher than normal concentrations), lactic acidosis, hypotonia, cardiomegaly, and facial dysmorphia. (wikipedia.org)
  • Mutations in the SLC25A19 gene cause Amish lethal microcephaly. (medlineplus.gov)
  • which means both copies of the gene in each cell have mutations. (medlineplus.gov)
  • Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
  • 2001) Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. (guidetopharmacology.org)
  • Scope includes mutations and abnormal protein expression. (cancerindex.org)
  • Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by SLC4A11 mutations. (genscript.com)
  • Acrodermatitis enteropathica is an autosomal recessive disorder occurring as a result of mutations in the SLC39A4 ( solute carrier family 39 member A4) gene located on band 8q24.3. (medscape.com)
  • The etiopathogenesis of the zinc deficiency occurs as a result of loss-of-function mutations of the zinc-ligand binding protein ZIP4 encoded by the SLC39A4 ( solute carrier 39A) gene located on band 8q24.3. (medscape.com)
  • Mutations in the gene for cardiac myosin-binding protein C account for approximately 15 percent of cases of familial hypertrophic cardiomyopathy. (nih.gov)
  • The spectrum of disease-causing mutations and the associated clinical features of these gene defects are unknown. (nih.gov)
  • Mutations were found in 16 probands, who had 574 family members at risk of inheriting these defects. (nih.gov)
  • The genotypes of these family members were determined, and the clinical status of 212 family members with mutations in the gene for cardiac myosin-binding protein C was assessed. (nih.gov)
  • eight defects (insertions, deletions, and splice mutations) were predicted to truncate cardiac myosin-binding protein C. The clinical expression of either missense or truncation mutations was similar to that observed for other genetic causes of hypertrophic cardiomyopathy, but the age at onset of the disease differed markedly. (nih.gov)
  • Survival was generally better than that observed among patients with hypertrophic cardiomyopathy caused by other mutations in the genes for sarcomere proteins. (nih.gov)
  • The clinical expression of mutations in the gene for cardiac myosin-binding protein C is often delayed until middle age or old age. (nih.gov)
  • Delayed expression of cardiac hypertrophy and a favorable clinical course may hinder recognition of the heritable nature of mutations in the cardiac myosin-binding protein C gene. (nih.gov)
  • Mutations in this gene have been shown to result in autosomal dominant progressive external opthalmoplegia and familial hypertrophic cardiomyopathy. (ayassbioscience.com)
  • Targeted or gene trap mutations are generated in strain 129/SvEvBrd-derived embryonic stem (ES) cells. (mmrrc.org)
  • Pancreatic ductal adenocarcinoma (PDAC) tumours carry multiple gene mutations and respond poorly to treatments. (bvsalud.org)
  • Mutations in the UCP3 gene are associated with OBESITY . (online-medical-dictionary.org)
  • Ataxia-telangiectasia is caused by mutations in the gene that encodes ataxia-telangiectasia-mutated (ATM) protein. (msdmanuals.com)
  • Mutations of the PTPN11 gene in therapy-related MDS and AML with rare balanced chromosome translocations. (lu.se)
  • Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies. (lu.se)
  • 1] "The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. (tcdb.org)
  • This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. (cancerindex.org)
  • This gene encodes a member of the solute carrier family 6 protein family which transports neutral amino acids. (nih.gov)
  • The human solute carrier gene SLC35B4 encodes a bifunctional nucleotide sugar transporter with specificity for UDP-xylose and UDP-N-acetylglucosamine. (nih.gov)
  • Specifically, we hypothesize the candidate gene, CG10804, is a potential gene that encodes for a glycine transporter in Drosophila. (utep.edu)
  • Classes for this protein according to by Drug Target Ontology (DTO). (nih.gov)
  • Whole genome analysis of lung, sampled 24 hours after challenge, showed expression changes of not only genes belonging to several Gene Ontology groups with up-regulation of inflammatory-associated genes and those associated with lung remodeling but also genes involved in downsizing these processes. (cdc.gov)
  • The following Slc4a11 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). (genscript.com)
  • We hypothesized a HFD may affect expression of genes involved in mitochondrial function and biogenesis. (diabetesjournals.org)
  • 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)
  • PGC1α- and PGC1β-responsive OXPHOS genes show reduced expression in the muscle of patients with type 2 diabetes ( 3 , 4 ). (diabetesjournals.org)
  • 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)
  • 5] "Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue. (tcdb.org)
  • GXD's primary emphasis is on endogenous gene expression during development. (jax.org)
  • Objective -To characterize mucosal gene expression in dogs with chronic enteropathy (CE). (avma.org)
  • Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
  • GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. (genscript.com)
  • Protein expression is influenced by many factors that may vary between experiments or laboratories. (genscript.com)
  • Disturbed expression of these proteins results in synaptic dysfunction, cognitive impairment, memory loss, and neuronal degradation. (benthamscience.com)
  • Genome-wide transcriptional profiling using RNA-Seq revealed few age-related changes in gene expression in muscle and esophagus tissue. (nature.com)
  • In contrast, radial nerve showed an unexpected level of complexity with the expression of 3,370 genes significantly altered more than two-fold with age, including genes involved in nerve function, signaling, metabolism, transcriptional regulation and chromatin modification. (nature.com)
  • There was an age-related upregulation in expression of genes involved in synaptogenesis, axonogenesis and neuroprotection suggesting preservation of neuronal processes with age. (nature.com)
  • There was also an upregulation in expression of positive regulators and key components of the AMPK pathway, autophagy, proteasome function, and the unfolded protein response. (nature.com)
  • This unique age-related gene expression profile in the red sea urchin nervous system may play a role in mitigating the detrimental effects of aging in this long-lived animal. (nature.com)
  • Gene expression is a key determinant of cellular phenotype, and genome-wide expression analysis can provide insight into the molecular events underlying complex processes such as aging. (nature.com)
  • Age-related gene expression profiles of the short-lived model animals Caenorhabditis elegans and Drosophila melanogaster share a common adult-onset expression program of genes involved in mitochondrial metabolism, DNA repair, catabolism, peptidolysis and cellular transport 3 . (nature.com)
  • The reduced expression of genes involved in mitochondrial oxidative respiration occurs in early adulthood, before the onset of functional decline, and more abruptly than a damage-response model would predict, which supports the possibility of programmed age-related transcriptional regulation 3 . (nature.com)
  • Gene expression profiles in animals that exhibit slow aging or negligible senescence may reveal distinct insight into potential mechanisms involved in long-term maintenance of tissues and healthy aging. (nature.com)
  • Few genes show differential expression with age in tissues (brain, liver and kidney) of naked mole rats and, contrary to other mammals and short-lived model animals, mitochondrial gene expression does not change with age 13 . (nature.com)
  • Gene expression stability during aging was also observed in tissues of the long-lived giant mole-rat ( Fukomys mechowii ) with a maximum lifespan of more than 20 years 14 . (nature.com)
  • This study used microarray analysis to determine the gene expression profiling in ethnic Malay patients with type 2 DM. (nih.gov)
  • NPT2 gene expression is crucial for PTH effects on renal P(i) handling. (thermofisher.com)
  • However, renal expression of the sodium/phosphate cotransporter gene, NPT2, is not required for regulation of renal 1 alpha-hydroxylase by phosphate. (thermofisher.com)
  • Our research program targets the development of the next-generation natural compound production technology which leads the production of novel compounds by heterologous expression system applying on cryptic biosynthetic genes. (go.jp)
  • ROS production and the expression of TP53, nuclear factor erythroid 2-related factor (NRF2), and Jun dimerization protein 2 were also downregulated on treatment with PEA and CA, but not SFN. (bvsalud.org)
  • The expression of ASPP1 and ASPP2 also enhances the apoptotic function of p63 and p73 by selectively inducing the expression of endogenous p53 target genes, such as PIG3 and PUMA, but not mdm2 or p21(WAF-1/CIP1). (ox.ac.uk)
  • Furthermore, gene expression, immunofluorescence and western blot analyses seemingly demonstrate that CG10804 is localized at the plasma membrane of Porcine Aortic Endothelial (PAE) cells, which fulfills a requirement as a member of the SLC6 family. (utep.edu)
  • Hypoxia was found to induce A498 cell invasion, migration, and the release of inflammatory cytokines, while repressing human solute carrier family 14 member 1 gene expression. (biomedcentral.com)
  • Elevated levels of solute carrier family 14 member 1 expression induced mitochondrial reactive oxygen species accumulation, diminished the intracellular adenosine triphosphate level, and destroyed both mitochondrial membrane potential integrity and mitochondrial morphology. (biomedcentral.com)
  • Total RNA from tumors the expression of thousands of genes (3) to address complex questions was isolated using two successive rounds of Trizol. (lu.se)
  • Unsensitized animals challenged with TMA exhibited also an increased number of macrophages in BAL, but gene expression in the above-mentioned gene pathways was unchanged or down-regulated. (cdc.gov)
  • [ 11 ] In the CALERIE phase 1 study, however, we demonstrated that 6 months of 25% CR in healthy human s increased the expression of genes involved in mitochondrial biogenesis and mitochondrial DNA (mtDNA) copy number. (medscape.com)
  • This gene product belongs to the SCAMP family of proteins, which are secretory carrier membrane proteins. (nih.gov)
  • Homo sapiens secretory carrier membrane protein 2 (SCAMP2), transcript variant 2, mRNA. (origene.com)
  • We conclude that SLC4A11 is a rare integral membrane protein in which the CD has strong associations with the integral MD, which contributes to membrane transport function. (genscript.com)
  • NPT2 is an integral membrane protein expressed in kidney and lung. (thermofisher.com)
  • Approved gene symbol with link to HUGO Gene Nomenclature Committee. (nih.gov)
  • Search on a gene symbol or gene name keyword(s). (jax.org)
  • The nomenclature system begins with the root symbol Slc, followed by a number that indicates the family, then by a letter designating the sub-family (however, only 'a' is used when the family has not been subdivided), and lastly another number that defines the individual transporter gene. (prohealth.com)
  • The protein is predicted to have 12TM domains, with intracellular termini. (guidetopharmacology.org)
  • Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members. (lu.se)
  • Vitavska O, Wieczorek H. (2013) The SLC45 gene family of putative sugar transporters. (guidetopharmacology.org)
  • Here, we reviewed the physiological/pathological roles and therapeutic significance of nearly all the proteins associated with AD that addresses putative as well as probable targets for developing effective anti-AD therapies. (benthamscience.com)
  • This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. (thermofisher.com)
  • 2] "Characterization of a second member of the subfamily of calcium-binding mitochondrial carriers expressed in human non-excitable tissues. (tcdb.org)
  • Up-regulated genes included major histocompatibility complex (HLA-C), complement component 3a receptor 1 (C3AR1), solute carrier family 16, member 3 (SLC16A3) and solute carrier family 9 (sodium/hydrogen exchanger) (SLC9A8). (nih.gov)
  • This protein uses a sodium ion to transport NMN across cell membranes to be converted directly into NAD+, rather than using NR as an intermediary first. (prohealth.com)
  • We used a bioinformatics approach to determine any conserved residues essential for glycine, sodium, and chloride binding between our candidate gene and its mammalian counterpart. (utep.edu)
  • Based on the atomic coordinates of the human GlyT1 crystal structure, the amino acids that participate in glycine, sodium and chloride binding were found to be identical to the corresponding residues in the CG10804 protein. (utep.edu)
  • A pseudogene of this gene has been defined on chromosome 1. (nih.gov)
  • This gene is also a translocation partner in anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8;17)(q24;q25) translocation has been identified with the MYC gene on chromosome 8. (cancerindex.org)
  • The gene encoding human NPT1 maps to chromosome 6q21.3-p23, while the gene encoding human NPT2 maps to chromosome 5q35. (thermofisher.com)
  • Genetic conditions can be described by the chromosome that contains the gene or DNA change. (cdc.gov)
  • If the gene or DNA change is part of the X chromosome, the condition is called "X-linked" or "sex-linked. (cdc.gov)
  • Huntington disease (HD) is associated with an excessive sequence of CAG repeats in the 5' end of HTT (alias IT15- interesting transcript number 15), a 350-kD gene located on the short arm of chromosome 4. (medscape.com)
  • We used a high density SNP array (600 K, Affymetrix) to estimate genomic heritability, perform genome-wide association analysis, and identify genomic regions and positional candidate genes (PCGs) associated with internal organ traits in an F2 chicken population. (biomedcentral.com)
  • Thus, the discovery of genomic regions and positional candidate genes (PCGs) for intestine length or weights and percentages of heart, liver, gizzard or lungs, is a first step for understanding their genetic architecture. (biomedcentral.com)
  • [2] In the United States, 1 in 12 African Americans carries the sickle cell gene and 1 in 375 has sickle cell anemia. (medscape.com)
  • The encoded protein is thought to play a role in neuronal amino acid transport (PMID: 16185194) and may be associated with major depression (PMID: 21521612). (nih.gov)
  • Total count of NCBI Gene Reference Into Function hits for target listed in parenthesis, and summary table with links to publications per PMID with the specific text in article that includes the reported target. (nih.gov)
  • Mitochondrial pyruvate carrier 2 (MPC2) also known as brain protein 44 (BRP44) is a protein that in humans is encoded by the MPC2 gene. (wikipedia.org)
  • As a result of the rapid advances in genetics technology and the Human Genome Project, most of the estimated 100,000 genes in humans will be identified by the year 2005 (1). (cdc.gov)
  • Genetic counseling is recommended for family members of parents with the congenital form of acrodermatitis enteropathica. (medscape.com)
  • Dynamic cellular events beyond genetic encodings, such as epigenetics, and intermolecular protein interaction, play critical roles in dictating cellular functions. (go.jp)
  • Evolution of genetic architecture and gene regulation in biphenyl/PCB-degrading bacteria. (go.jp)
  • And since mature red cells don't carry any genetic material, they would also carry fewer safety risks than other gene and cell therapies. (technologyreview.com)
  • Rubius's first drug will be for phenylketonuria, or PKU, a devastating genetic disorder that renders people with the disease unable to digest the amino acid phenylalanine, which is found in most high-protein foods. (technologyreview.com)
  • Before they become fully mature, mammalian red blood cells eject their genetic material, so as a therapy they are easier to control and less risky than other stem cell and gene therapies, which can lead to abnormal cell growth and tumors. (technologyreview.com)
  • Sickle-cell disease (SCD) is a genetic condition in which the red blood cells contain haemoglobin S (HbS), an abnormal form of the oxygen-carrying protein. (who.int)
  • SCD is the most prevalent genetic disease in the African Region.1 There are different subtypes of SCD in which the abnormal S gene (S) coexists with other abnormal haemoglobin genes. (who.int)
  • If the gene is part of one of the first 22 pairs of chromosomes, called autosomes, the genetic condition is called an "autosomal" condition. (cdc.gov)
  • Genetic testing revealed 43 CAG repeats in the HD gene. (medscape.com)
  • Study of the Genetic Variants in BRCA1/2 and Non-BRCA Genes in a Population-Based Cohort of 2155 Breast/Ovary Cancer Patients, Including 443 Triple-Negative Breast Cancer Patients, in Argentina. (cdc.gov)
  • Combined, these results suggest a mechanism whereby HFD downregulates genes necessary for OXPHOS and mitochondrial biogenesis. (diabetesjournals.org)
  • They function as carriers to the cell surface in post-golgi recycling pathways. (nih.gov)
  • These findings suggest that these protein family members may function at the same site during vesicular transport rather than in separate pathways. (nih.gov)
  • 4] "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (tcdb.org)
  • These sequences represent the protein coding region of the Slc4a11 cDNA ORF which is encoded by the open reading frame (ORF) sequence. (genscript.com)
  • Zinc has "mimetic" activity where it is involved in a range of functions including insulin receptor signal transduction, insulin storage, secretion and tissues/organelle distribution, and inhibition of protein tyrosine phosphatases [ 5 - 8 ]. (hindawi.com)
  • Thus, the proteins that transport zinc likely facilitate cell signaling processes that contribute to glycemic control in peripheral tissues by modulating cytosolic zinc concentrations. (hindawi.com)
  • A mitochondrial uncoupling protein that is expressed in heart and skeletal muscle tissues. (online-medical-dictionary.org)
  • Click on genes, proteins and metabolites below to link to respective articles. (wikipedia.org)
  • This technique has frequently been applied to animal tissue slices for the purpose to map proteins, peptides , lipids, sugars or small metabolites to find disease specific bio-markers or to study drag metabolism. (go.jp)
  • 1. Graf J, Hodgson R, van Daal A. (2005) Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation. (guidetopharmacology.org)
  • Dogs with CE and protein-losing enteropathy had the greatest number of differentially expressed genes. (avma.org)
  • Various uncharacterized D. melanogaster genes were analyzed by homology analysis, and it was determined CG10804 was the most likely candidate to encode for a glycine transporter based on the number of conserved residues with mammalian glycine transporters. (utep.edu)
  • [ 2 ] Healthy individuals may have between 9 and 35 CAG repeats, while patients diagnosed with HD, as well as carriers, have an abnormal expansion accommodating 36 or more CAG repeats. (medscape.com)
  • Possibly, the abnormal huntingtin protein undergoes proteolysis and is then transported to the nucleus, where it undergoes aggregation. (medscape.com)
  • DNA sequences encoding cardiac myosin-binding protein C were determined in unrelated patients with familial hypertrophic cardiomyopathy. (nih.gov)
  • Newly developed gene amplification tests can also detect noninfectious SV40 sequences. (who.int)
  • Although there is no evidence of SV40 sequences in OPV, the Expert Committee agreed to the introduction of a gene amplification test for SV40 in poliovirus seed stocks to provide an additional level of security. (who.int)
  • All known individuals with Amish lethal microcephaly have a mutation in which the protein building block (amino acid) alanine is substituted for the amino acid glycine at position 177 of the SLC25A19 protein, written as Gly177Ala or G177A. (medlineplus.gov)
  • Therefore, infants with an autosomal recessive mutation of this gene inadequately absorb dietary zinc. (medscape.com)
  • [ 21 ] Infants can also develop acrodermatitis enteropathica if their mothers have a mutation of the SLC30A2 gene located on band 1p36.11, which results in inadequate secretion of zinc into their breast milk. (medscape.com)
  • In sickle cell anemia, a point mutation on the β-globin gene results in glutamic acid substituting for valine at position 6 of the amino acid sequence. (medscape.com)
  • The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. (medlineplus.gov)
  • Changes in and around genes cause conditions to occur within members of the same family in certain patterns, called autosomal "dominant," autosomal "recessive," and X-linked "recessive. (cdc.gov)
  • The actions of the proteins that control the uptake, storage, and distribution of zinc, the zinc transporters, are under intense investigation due to their emerging role in type 2 diabetes. (hindawi.com)
  • The study of glycine transporters has been neglected compared to other members of the Solute Carrier 6 (SLC6) family of proteins, such as the dopamine and serotonin transporters, even though they are just as crucial to survival. (utep.edu)
  • The disrupted mouse gene is Slc27a4 (solute carrier family 27 [fatty acid transporter], member 4), ortholog of human SLC27A4. (mmrrc.org)
  • HSPs, which ameliorate oxidative stress, calpains, which help in regulating synaptic plasticity, and calmodulin-like skin protein (CLSP) with its neuroprotective role are few promising future targets for developing anti-AD therapies. (benthamscience.com)
  • This gene is a susceptibility gene for Moyamoya disease, a vascular disorder of intracranial arteries. (cancerindex.org)
  • Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1. (cancerindex.org)
  • This study has identified several genes of interest, such as HLA-C, SLC16A3, SLC9A8, SLC12A1 and SLC7A2, that require verification of their roles as susceptibility genes for diabetic nephropathy in ethnic Malays with type 2 DM. (nih.gov)
  • Different family members are highly related products of distinct genes, and are usually expressed together. (nih.gov)
  • It is a member of the Mitochondrial Pyruvate Carrier (MPC) protein family. (wikipedia.org)
  • The SLC25A19 gene provides instructions for producing a protein that is a member of the solute carrier (SLC) family of proteins. (medlineplus.gov)
  • Proteins in the SLC family transport various compounds across the membranes surrounding the cell and its component parts. (medlineplus.gov)
  • Members of the SLC45 family remain to be fully characterised. (guidetopharmacology.org)
  • Bartölke R, Heinisch JJ, Wieczorek H, Vitavska O. (2014) Proton-associated sucrose transport of mammalian solute carrier family 45: an analysis in Saccharomyces cerevisiae. (guidetopharmacology.org)
  • Rattus norvegicus solute carrier family 4 member 11 (Slc4a11), mRNA. (genscript.com)
  • ZIP4 is a member of the Zrt-/Irt-like protein (ZIP) family, and it is a histidine-rich transmembrane protein that is specifically expressed on the apical side of enterocytes in the small intestine, as well as in the kidney, and is responsible for zinc absorption. (medscape.com)
  • In contrast to other members of the neurotransmitter transporter family, does not appear to be chloride-dependent. (nih.gov)
  • Consistently down-regulated genes included were bone morphogenetic phosphatase kinase (BMP2K), solute carrier family 12, member 1 (SLC12A1), solute carrier family 7 (SLC7A2), paternally expressed 10 (PEG10) and protein phosphatase 1 regulatory (inhibitor unit) (PPP1R1C). (nih.gov)
  • NAD+ is also involved with regulating the family of proteins called sirtuins , which play a central role in longevity and the aging process. (prohealth.com)
  • The Slc gene, which stands for 'solute carriers', is a super-family of over 395 membrane transport proteins, whose roles range from nutrient transport to drug delivery. (prohealth.com)
  • While the entire Slc gene family is typically involved with the uptake of small molecules into cells, there are 52 sub-families reported and the specificity of what each protein can transport varies widely, even within sub-families. (prohealth.com)
  • ASPP1 and ASPP2: common activators of p53 family members. (ox.ac.uk)
  • Hence, ASPP1 and ASPP2 are the first two identified common activators of all p53 family members. (ox.ac.uk)
  • SLC25A35 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al. (ageing-map.org)
  • Overexpression of the solute carrier family 14 member 1 gene could abolish hypoxia-induced invasion, reduce the migration of A498 cells, inhibit the hypoxia-induced release of inflammatory cytokines, and arrest the cell cycle at the G1/S checkpoint. (biomedcentral.com)
  • The results elucidate a mechanism wherein the solute carrier family 14 member 1 gene participates in the occurrence and development of hypoxia-induced renal cell carcinoma in a mitochondria-dependent manner. (biomedcentral.com)
  • Parents of a child with a family history of que tienen el gene del antígeno de superficie del virus de la Hepatitis B. El antígeno de superficie de la Hepatitis B (HBsAg) expresado en las genetically engineered Hansenula polymorpha yeast cells having the surface antigen gene of the Hepatitis B virus. (who.int)
  • Though his family had no known history of HD, a number of family members were believed to have been afflicted by dementia, a staggering gait, emphysema, and Parkinson disease. (medscape.com)
  • The human genome contains several non-transcribed pseudogenes of this gene. (thermofisher.com)
  • Unless otherwise stated all data on this page refer to the human proteins. (guidetopharmacology.org)
  • Gene information is provided for human (Hs), mouse (Mm) and rat (Rn). (guidetopharmacology.org)
  • A Human IRE1 Inhibitor Blocks the Unfolded Protein Response in the Pathogenic Fungus Aspergillus fumigatus and Suggests Noncanonical Functions within the Pathway. (uc.edu)
  • Using established molecular biology techniques, Rubius's scientists can engineer progenitor cells taken from human bone marrow and grow blood cells that produce specific therapeutic proteins on their surface or inside the cell. (technologyreview.com)
  • Mitochondrial uncoupling proteins allow dissipation of the mitochondrial proton gradient associated with thermogenesis and regulation of radical formation. (guidetopharmacology.org)
  • Microalbuminuria was associated with up- and down-regulation of 2,694 and 2,538 genes, respectively, while macroalbuminuria was associated with up-regulation of 2,520 genes and down-regulation of 2,920 genes. (nih.gov)
  • There was significant up-regulation of 1,135 genes and down-regulation of 908 genes in the ESRD samples. (nih.gov)
  • To use this carrier-free antibody for conjugation experiment, we strongly recommend performing another round of desalting process. (origene.com)
  • Perhaps attaching another protein group onto the heavy chain of the antibody, or some such mechanism. (sciforums.com)
  • The EV surface contains a CD64 protein that has a tissue targeting peptide and a humanized monoclonal antibody. (bvsalud.org)
  • The sensitivity and specificity of such testing can now be improved as a result of the recent discovery of the Cystic Fibrosis Transmembrane Conductance Regulatory (CFTR) gene. (cdc.gov)
  • The discovery of the Cystic Fibrosis Transmembrane Conductance Regulatory (CFTR) gene (5) renewed interest in this possibility, as the sensitivity and specificity of testing could be improved through DNA-based testing. (cdc.gov)
  • To further validate the results pathway study was performed to identify the involvement of the coding genes in type II diabetes. (researchgate.net)
  • Gene Therapy for Mucopolysaccharidosis Type II-A Review of the Current Possibilities. (cdc.gov)
  • About 98% of estradiol is bound to transport proteins (SHBG and albumin). (cdc.gov)
  • If it's not too important (people can live without it), we could possibly engineer cells that produce antibodies that bind to the active site of the CCR5 protein, but do not illicit an immune response from the host organism. (sciforums.com)
  • Multiple transcript variants encoding different isoforms have been found for this gene. (nih.gov)
  • Thirty-seven significantly up-regulated genes and 40 down-regulated genes were commonly expressed in all 3 groups of patients with worsening of renal functions. (nih.gov)
  • Given the low plasma concentration of zinc and its importance in cellular signaling, it is essential that the availability and distribution of "free" zinc (free zinc is used to differentiate zinc involved in cell signaling from zinc that tightly bound to protein and therefore thermodynamically unavailable) are tightly controlled [ 6 ]. (hindawi.com)
  • Jensen Lab generated fractional counting score for the prevalence of this gene in Pubmed articles. (nih.gov)
  • Success in implementing identified interventions will depend on the commitment of Member States to integrate SCD prevention and control in national health plans, and provide an environment conducive for various stakeholders to contribute to the reduction of SCD prevalence, morbidity and mortality. (who.int)
  • The SCT is widespread in the WHO African Region;3 the S gene prevalence in at least 40 countries varies between 2% and 30%, resulting in high SCD-related morbidity and mortality. (who.int)
  • 7] "Lysine acetylation targets protein complexes and co-regulates major cellular functions. (tcdb.org)
  • The last few decades were concentrated over identifying and studying protein targets of AD. (benthamscience.com)