• Mutations in the gene encoding the LDL receptor are known to cause familial hypercholesterolaemia. (wikipedia.org)
  • There are 5 broad classes of mutation of the LDL receptor: Class 1 mutations affect the synthesis of the receptor in the endoplasmic reticulum (ER). (wikipedia.org)
  • Class 2 mutations prevent proper transport to the Golgi body needed for modifications to the receptor. (wikipedia.org)
  • Mutations in multiple genes have been found to cause hereditary hyperekplexia. (medlineplus.gov)
  • Gene mutations that cause hereditary hyperekplexia disrupt normal glycine signaling in neurons in the spinal cord and the part of the brain that is connected to the spinal cord ( the brainstem ). (medlineplus.gov)
  • Most cases of hereditary hyperekplexia are caused by mutations in the GLRA1 gene. (medlineplus.gov)
  • GLRA1 gene mutations lead to the production of a receptor that cannot properly respond to glycine. (medlineplus.gov)
  • Mutations in other genes account for the remaining cases of hereditary hyperekplexia. (medlineplus.gov)
  • which means one of the associated genes has mutations in both copies of the gene in each cell. (medlineplus.gov)
  • The vast majority of glucagonomas are sporadic (80%) with the remainder associated with multiple endocrine neoplasia type 1 (MEN1) , an inherited tumor predisposition syndrome, or Mahvash disease, an extremely rare cause of familial pancreatic α-cell hyperplasia and glucagonoma due to inactivating mutations in the glucagon receptor ( GCGR ) gene. (medscape.com)
  • 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)
  • Mutations in the Alpha-actinin-4 gene (ACTN4) cause a rare form of familial focal segmental glomerulosclerosis in humans. (biomedcentral.com)
  • Furthermore, mutations in KCNK3 have been identified as a rare cause of both familial and idiopathic pulmonary arterial hypertension. (ersjournals.com)
  • Mutations in these genes result in diverse diseases collectively referred to as the laminopathies. (bmj.com)
  • The NOTCH3 gene was analysed by sequencing all exons with known CADASIL mutations in a typical (non-familial hemiplegic) migraine family (MF1) that has previously been shown to be linked to C19p13. (openneurologyjournal.com)
  • NOTCH3 gene sequencing results for affected members of MF1 proved to be negative for all known sequence variants giving rise to mutations for CADASIL. (openneurologyjournal.com)
  • Our results suggest that common migraine is not caused by any known CADASIL mutations in the NOTCH3 gene of interest. (openneurologyjournal.com)
  • Somatic, constitutively activating TSHR mutations and/or constitutively activating G(s)alpha mutations have been identified in toxic thyroid nodules (TTNs) that are the predominant cause of hyperthyroidism in iodine deficient areas. (assaygenie.com)
  • The discovery that mutations in sarcomere protein genes cause HCM has enabled the development of mouse models that recapitulate clinical manifestations of disease. (rupress.org)
  • New disease genes and pathogenic mutations often seem far afield from the overt manifestations of human pathology, in particular when the gene is expressed life long, but the disease emerges only after years or decades. (rupress.org)
  • The journey from defining genetic etiology to molecular understanding of disease mechanism can be frustratingly slow, requiring exploration of how mutations alter functions of the encoded protein and delineation of the responses that they trigger in relevant cells. (rupress.org)
  • Finally, it seems appropriate to consider the "sodium channel syndrome" (mutations in the gene of the α subunit of the sodium channel, SCN5A gene) as a single clinical entity that may manifest in a wide range of phenotypes, to thus have a better insight on these cardiac syndromes and potential outcomes for their clinical treatment. (bvsalud.org)
  • Most of these genes provide instructions for producing proteins that are found in nerve cells ( neurons ). (medlineplus.gov)
  • These are all highly similar proteins, with only small amino acid changes causing the diversity of the voltage-dependent gating mechanism, channel conductance and toxin binding properties. (embl.de)
  • The repeat is found in a variety of proteins that include, vitellogenin receptor from Drosophila melanogaster, low-density lipoprotein (LDL) receptor [ ( PUBMED:6091915 ) ], preproepidermal growth factor, and nidogen (entactin). (embl.de)
  • This domain occurred 326 times on human genes ( 753 proteins). (umbc.edu)
  • molecular weight [MW] of the 'naked' protein:10,205 Da), being transcribed from the same gene and showing only variability in glycosylation (MW of the glycosylated proteins: 13,000-18,000 Da). (mayocliniclabs.com)
  • A clumping of proteins inside cell bodies in the brain, which may be toxic. (michaeljfox.org)
  • A chemical compound or substance that inhibits oxidation - damage to cells' membranes, proteins or genetic material by free radicals (the same chemical reaction that causes iron to rust). (michaeljfox.org)
  • A cell-penetrant peptide blocking C9ORF72-repeat RNA nuclear export reduces the neurotoxic effects of dipeptide repeat proteins. (le.ac.uk)
  • We also discuss normal synthesis of tachykinins and their receptors, yet focus on their regulation by microRNA, messenger RNA stabilizing proteins, and transcription factors like Restrictive Element-1 Silencing Factor (REST). (brainimmune.com)
  • Furthermore, GSOs protected cells against GLU-induced apoptosis by reducing the expression of the mitochondrial apoptosis-associated Bcl-2 family effector proteins and protected cells from GLU-induced oxidative damage by increasing the nuclear translocation of Nrf2 and HO-1 expression. (sdbonline.org)
  • Cells express a pool of thousands of different proteins that need to be tightly controlled for proper cellular structure, organization, and function. (hindawi.com)
  • Lamins are intermediate filament proteins comprising a major structural component of the nuclear lamina, which underlies the inner membrane of the nuclear envelope in most somatic cells. (bmj.com)
  • A set of sensors recognizing pathologic factors is present and defined as a membrane-bound family of Toll-like receptors as well as the cytosolic ones including the family of nucleotide-binding domain leucine-rich repeat proteins. (biomedcentral.com)
  • Numerous cellular proteins detect DNA damage and induce senescence , a permanent change of state characterized by morphological and gene expression changes. (massgenomics.org)
  • The activity of this receptor is mediated by G proteins which activate adenylate cyclase. (assaygenie.com)
  • We observed that the co-expression of aSyn and Tau led to the emergence of fluorescence, reflecting the interaction of the proteins in cell lines, as well as in mouse and rat SNpc. (bvsalud.org)
  • Serum amyloid A and alpha-1 acid glycoprotein are transport proteins, and fibrinogen is a coagulation factor. (msdmanuals.com)
  • Antibodies recognize specific configurations (epitopes, or antigenic determinants) on the surfaces of antigens (eg, proteins, polysaccharides, nucleic acids). (msdmanuals.com)
  • The GLRA1 gene provides instructions for making one part, the alpha (α)1 subunit, of the glycine receptor protein. (medlineplus.gov)
  • The nuclear localization sequences of the BRCA1 protein interact with the importin-alpha subunit of the nuclear transport signal receptor. (xenbase.org)
  • Binding of the insulin ligand to the extracellular alpha subunit activates the intracellular tyr kinase domain of the transmembrane beta subunit. (umbc.edu)
  • Each is composed of an alpha- and a beta-subunit, coupled by strong noncovalent bonds. (mayocliniclabs.com)
  • This gene encodes the enzyme responsible for pre-mRNA editing of the glutamate receptor subunit B by site-specific deamination of adenosines. (cancerindex.org)
  • It has been speculated that the domain may have ancestrally acted as a spacer to push the receptor beyond the extracellular matrix. (wikipedia.org)
  • TASK-1 channels are sensitive to a wide array of physiological and pharmacological mediators that affect their activity such as unsaturated fatty acids, extracellular pH, hypoxia, anaesthetics and intracellular signalling pathways. (ersjournals.com)
  • This condition can be inherited in an autosomal dominant pattern, which means a mutation in one copy of any of the associated genes in each cell is sufficient to cause the disorder. (medlineplus.gov)
  • METHODS: We have used a combination of a multiple sequence alignment of orthologous BRCA1 sequences and a measure of the chemical difference between the amino acids present at individual residues in the sequence alignment to classify missense variants and in-frame deletions detected during mutation screening of BRCA1 . (xenbase.org)
  • Mutational analysis of the lamin A/C gene revealed homozygosity for the identical R527H mutation as reported previously, but with a distinct haplotype. (bmj.com)
  • 1998) [ 7 ] the authors detected an FHM mutation in the CACNA1A gene in a typical migraine patient with MA, suggesting that FHM may be a rare and severe form of MA. (openneurologyjournal.com)
  • Although biochemical and biophysical assays and cell biology experiments advance these insights, full elucidation of the pathophysiology caused by human disease requires a broader approach, including assessment of the impact that cells with a pathogenic mutation have on neighboring cells that do not express the mutant protein and consideration of system-wide responses to a diseased organ. (rupress.org)
  • In a separate analysis of 248 patients with sporadic acromegaly, a mutation in the GPR101 gene was found in about 4% of cases. (medscape.com)
  • Accession I0070 Systematic name Allele 1 and 2: g.32877T>A, c.2T>A, r.2u>a, p.Met1Lys Original code P Description Allele 1 and 2: A point mutation in the exon 1 leading to Description an amino acid change Date 28-Jul-2010 (Rel. (lu.se)
  • The cytosolic C-terminal domain contains ~50 amino acids, including a signal sequence important for localizing the receptors to clathrin-coated pits and for triggering receptor-mediated endocytosis after binding. (wikipedia.org)
  • In order to be internalized, the receptor-ligand complex must first cluster into clathrin-coated pits. (embl.de)
  • The fifth domain is the cytoplasmic tail that directs the receptor to clathrin-coated pits. (embl.de)
  • When this protein attaches (binds) to glycine, signaling between cells is stopped. (medlineplus.gov)
  • The LDL receptor binds LDL and transports it into cells by acidic endocytosis. (embl.de)
  • rather, PTH binds to osteoblasts, the cells responsible for creating bone. (bionity.com)
  • A chemical that binds to a receptor on a cell and triggers a response by that cell. (michaeljfox.org)
  • T3 binds to the nuclear receptor (TR) and combines with another receptor (RXR) then combines with a receptor element on DNA. (cdc.gov)
  • Glucagon is a peptidic hormone mostly produced from alpha-2 cells of the pancreas and, in smaller amounts, from amine precursor uptake and decarboxylation (APUD) cells in gastric and duodenal mucosa. (medscape.com)
  • Parathyroid hormone (PTH) , or parathormone , is secreted by the parathyroid glands as a polypeptide containing 84 amino acids. (bionity.com)
  • It acts to increase the concentration of calcium (Ca 2+ ) in the blood , whereas calcitonin (a hormone produced by the parafollicular cells (C cells) of the thyroid gland ) acts to decrease calcium concentration. (bionity.com)
  • Hyperparathyroidism is a disease characterized by excessive secretion of parathyroid hormone, an 84-amino acid polypeptide hormone. (medscape.com)
  • In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. (lookformedical.com)
  • The pituitary gland produces thyroid stimulating hormone (TSH) that goes into the blood stream to activate thyroid cells, which then secrete T3 and T4 into the peripheral tissues. (cdc.gov)
  • The thyroid hormone exerts negative feedback on cells that produce TSH, causing them to shut down production. (cdc.gov)
  • It is metabolized so one iodine atom is removed to produce T3 - about 10 times as active as T4 in binding to a receptor that exerts the action as receptor to the thyroid hormone. (cdc.gov)
  • The iodine is what the cells need to make the thyroid hormone. (cdc.gov)
  • The iodine hormone exerts its action on receptors on the nucleus in cells. (cdc.gov)
  • The low-density lipoprotein receptor (LDL-R) is a mosaic protein of 839 amino acids (after removal of 21-amino acid signal peptide) that mediates the endocytosis of cholesterol-rich low-density lipoprotein (LDL). (wikipedia.org)
  • It belongs to the low density lipoprotein receptor gene family. (wikipedia.org)
  • The low-density lipoprotein receptor (LDLR) is the major cholesterol-carrying lipoprotein of plasma, acting to regulate cholesterol homeostasis in mammalian cells. (embl.de)
  • Complete cloning and sequencing of rat gp330/"megalin," a distinctive member of the low density lipoprotein receptor gene family. (embl.de)
  • Transient mismatch repair gene transfection for functional analysis of genetic hMLH1 and hMSH2 variants. (xenbase.org)
  • These slight variations occur in less than 1% of the DNA sequence and produce different variants of a particular gene that are called alleles. (health.am)
  • Alternative splicing of this gene results in several transcript variants, some of which have been characterized by the presence or absence of an ALU cassette insert and a short or long C-terminal region. (cancerindex.org)
  • Pathological variants in TRPM4 gene have been linked to several cardiac phenotypes such as complete heart block (CHB), ventricular tachycardia, and Brugada syndrome (BrS). (frontiersin.org)
  • In consequence, protein turnover of WT-TRPM4 and TRPM4 variants overexpressed in HEK293 cells was analyzed using cycloheximide, an inhibitor of protein biosynthesis. (frontiersin.org)
  • We have recently examined the whole nucleotide sequence of the Mediterranean Fever gene in Japanese familial Mediterranean fever patients and revealed single nucleotide variants associated with the susceptibility of familial Mediterranean fever from a nation-wide survey by the next-generation sequencing. (biomedcentral.com)
  • Three transcript variants encoding different isoforms have been found for this gene. (assaygenie.com)
  • Next generation sequencing to identify novel genetic variants causative of autosomal dominant familial hypercholesterolemia associated with increased risk of coronary heart disease. (edu.pl)
  • Patients with RD are unable to degrade phytanic acid because of a deficient activity of phytanoyl-CoA hydroxylase (PhyH), a peroxisomal enzyme catalyzing the first step of phytanic acid alpha-oxidation. (medscape.com)
  • Summary of studies investigating the roles of the carboxy- and the amino terminal domains of the soluble epoxide hydrolase enzyme. (frontiersin.org)
  • The renatured enzyme had full activity, leading to the conclusion that all the information required for the enzyme's three-dimensional structure was present only in the linear sequence of amino acids it contained and that the active structure of the enzyme was the thermodynamically most stable one. (golifescience.com)
  • PTH up-regulates the enzyme responsible for 1-alpha hydroxylation of 25-hydroxy vitamin D , converting vitamin D to its active form ( 1,25-dihydroxy vitamin D ). This actived form of vitamin D affects the absorption of calcium (as Ca 2+ ions) by the intestine via calbindin . (bionity.com)
  • Catalytic domain of the Protein Tyrosine Kinase, Insulin Receptor. (umbc.edu)
  • In the normal U.S. diet, iodine intake is about 250 micrograms or ¼ milligram (mg) of iodine per day, which goes into the thyroid cells and is incorporated into amino acids called tyrosine (in a large thyroglobulin molecule). (cdc.gov)
  • The transient receptor potential melastatin 4 (TRPM4) protein is an intracellular Ca 2+ -activated non-selective cation channel, which is impermeable to Ca 2+ . (frontiersin.org)
  • Clinical characteristics of patients with COVID-19 harboring detectable intracellular SARS-CoV-2 RNA in peripheral blood cells. (google.com)
  • Inflammasomes are intracellular sensors that regulate host defense, cell homeostasis, and cell death. (biomedcentral.com)
  • Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. (lookformedical.com)
  • This Mn2+-complex exhibited a significant antioxidant potential, reducing intracelular oxidation and increasing oxidative stress resistance in S. cerevisiae cells and in vivo, in G. mellonella, increasing the activity of the intracellular antioxidant enzymes superoxide dismutase and catalase. (bvsalud.org)
  • ADAR1 silencing in breast cancer cells leads to increased apoptosis, suggesting an anti-apoptotic function that promotes cancer progression. (cancerindex.org)
  • Moreover, mitochondria control cell death through apoptosis and supply Ca 2+ and metabolites required for cellular homeodynamics [ 3 ]. (hindawi.com)
  • Through these associations, the lamins may have more expanded roles at the cellular level and control diverse functions such as DNA synthesis, gene expression, and apoptosis. (bmj.com)
  • Over 500 products have been investigated for neuroprotective effects including those from the categories of free radical scavengers, anti-excitotoxic agents, apoptosis (programmed cell death) inhibitors, anti-inflammatory agents, neurotrophic factors, metal ion chelators, ion channel modulators, and gene therapy. (researchandmarkets.com)
  • Alternatively, cells that sense injury or loss of mitochondrial integrity may undergo programmed cell death (apoptosis). (massgenomics.org)
  • Apoptosis is the mechanism responsible for the physiological deletion of cells and appears to be intrinsically programmed. (lookformedical.com)
  • Michael S. Brown and Joseph L. Goldstein were awarded the 1985 Nobel Prize in Physiology or Medicine for their identification of LDL-R and its relation to cholesterol metabolism and familial hypercholesterolemia. (wikipedia.org)
  • Type "B" repeats in low-density lipoprotein (LDL) receptor that plays a central role in mammalian cholesterol metabolism. (embl.de)
  • InsR signaling plays an important role in many cellular processes including glucose homeostasis, glycogen synthesis, lipid and protein metabolism, ion and amino acid transport, cell cycle and proliferation, cell differentiation, gene transcription, and nitric oxide synthesis. (umbc.edu)
  • TDP-43 regulates RNA metabolism, trafficking, and localization of thousands of target genes. (nature.com)
  • The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. (assaygenie.com)
  • Plays a central role in controlling thyroid cell metabolism. (assaygenie.com)
  • The span of viability of a cell characterized by the capacity to perform certain functions such as metabolism, growth, reproduction, some form of responsiveness, and adaptability. (lookformedical.com)
  • It plays a major role in cell metabolism, growth, and survival as a core component of SIGNAL TRANSDUCTION . (lookformedical.com)
  • Sensitive ADAR editing reporter in cancer cells enables high-throughput screening of small molecule libraries. (cancerindex.org)
  • In a single-well setup we used the reporter in HeLa cells to screen a small molecule library of 33 000 compounds. (cancerindex.org)
  • The B-cell receptor consists of an Ig molecule anchored to the cell's surface. (msdmanuals.com)
  • Exon 1 contains a signal sequence that localises the receptor to the endoplasmic reticulum for transport to the cell surface. (wikipedia.org)
  • The N-terminal domain of the LDL receptor, which is responsible for ligand binding, is composed of seven sequence repeats (~50% identical). (wikipedia.org)
  • Portions of the cytosolic sequence have been found in other lipoprotein receptors, as well as in more distant receptor relatives. (wikipedia.org)
  • Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties. (xenbase.org)
  • Physical methods showed that this denatured form of ribonuclease had lost all detectable secondary and tertiary structures, although its amino acid sequence (primary structure) was intact. (golifescience.com)
  • That is, each has the same genes, but there are slight variations in the DNA sequence of nucleotide bases in each gene. (health.am)
  • The information contained in the nucleotide sequence of a gene is transcribed to mRNA (messenger RNA) by enzymes in the cell's nucleus and then translated to a protein in the cytoplasm. (health.am)
  • Recombinant fusion protein containing a sequence corresponding to amino acids 21-253 of human TSHR (NP_001018046.1). (assaygenie.com)
  • It is a multifactorial process resulting in the accumulation of lipids throughout the vessel wall, associated with mononuclear cell infiltration and clean muscle proliferation. (ehd.org)
  • Using data from the second phase (1991-1994) of the Third National Health and Nutrition Examination Survey (NHANES III), we examined associations between 22 polymorphisms in 13 candidate genes and four serum lipids: high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), total cholesterol (TC), and triglycerides (TG). (cdc.gov)
  • In humans, the LDL receptor protein is encoded by the LDLR gene on chromosome 19. (wikipedia.org)
  • The LDLR gene resides on chromosome 19 at the band 19p13.2 and is split into 18 exons. (wikipedia.org)
  • Compound heterozygous LDLR variant in severely affected familial hypercholesterolemia patient. (edu.pl)
  • D445*) in the LDLR gene that causes familial hypercholesterolemia. (edu.pl)
  • It is most significantly expressed in bronchial epithelial cells and adrenal gland and cortex tissue. (wikipedia.org)
  • Electron microscopy typically shows fusion of epithelial cell foot processes, or so-called foot process effacement. (biomedcentral.com)
  • It presents a functional unit of a physical barrier consisting of a mucus layer and a monolayer of epithelial cells and of a mucosal lymphoid system that together efficiently discriminate between pathogenic and commensal microorganisms 16 . (nature.com)
  • It is a cell-surface receptor that recognizes apolipoprotein B100 (ApoB100), which is embedded in the outer phospholipid layer of very low-density lipoprotein (VLDL), their remnants-i.e. intermediate-density lipoprotein (IDL), and LDL particles. (wikipedia.org)
  • Lipoprotein lipase increases low density lipoprotein retention by subendothelial cell matrix. (jci.org)
  • G676Afs*33)) causing familial hypercholesterolemia in Saudi Arab homozygous children. (edu.pl)
  • Under physiological conditions, alpha- and beta-chain synthesis and secretions are tightly coupled, and only small amounts of monomeric subunits are secreted. (mayocliniclabs.com)
  • Liu Y, Zhang YZ, Imoto S . Microbial Gene Ontology informed deep neural network for microbe functionality discovery in human diseases. (google.com)
  • Transient receptor potential melastatin member 4 (TRPM4), a non-selective cation channel, mediates cell membrane depolarization in immune response, insulin secretion, neurological disorders, and cancer. (frontiersin.org)
  • Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: structure-based assessment of amino acid variation. (xenbase.org)
  • Common polymorphisms (rs429358 and rs7412) were selected from the ApoE gene and we then performed the genotyping as the TaqMan assay. (edu.pl)
  • Recent candidate gene studies [ 13 - 16 ], as well as genome-wide association studies [ 17 - 25 ], have identified polymorphisms that account for a portion of the variation in blood lipid levels. (cdc.gov)
  • A double-blind, placebo-controlled randomized clinical trial of alpha-tocopherol (vitamin E) in the treatment of amyotrophic lateral sclerosis. (drlauda.at)
  • Any combination of the various acidic or amine amino acid side chains will have this effect. (golifescience.com)
  • A 24-hour urine calcium measurement is necessary to rule out familial benign (hypocalciuric) hypercalcemia (FHH). (medscape.com)
  • we identified a novel gene encoding a 24 amino acid peptide named Humanin (HN) that suppressed neuronal death induced by any type of FAD genes thus far examined, toxic Aβ peptides, and anti-APP antibody (Hashimoto et al. (jneurosci.org)
  • Predictive identification of exonic splicing enhancers in human genes. (xenbase.org)
  • This is achieved by the activation of calcium-sensing receptors located on parathyroid cells. (bionity.com)
  • Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. (lookformedical.com)
  • Each repeat, referred to as a class A repeat or LDL-A, contains roughly 40 amino acids, including 6 cysteine residues that form disulfide bonds within the repeat. (wikipedia.org)
  • The single transmembrane domain of 22 (mostly) non-polar residues crosses the plasma membrane in a single alpha helix. (wikipedia.org)
  • The pyrin protein is encoded by the Mediterranean Fever gene on chromosome 16 that acts as a major regulatory component of the inflammasome, and is responsible for familial Mediterranean fever. (biomedcentral.com)
  • The accumulation of the various products of alpha-synuclein aggregation has been associated with the etiology and pathogenesis of several neurodegenerative conditions, including both familial and sporadic forms of Parkinson's disease (PD) and dementia with Lewy bodies (DLB). (mdpi.com)
  • Researchers have identified a gene on the X chromosome, GPR101 , which was overexpressed 1000-fold more than normal in a genetic study of 43 patients affected by sporadic or inherited gigantism that manifested during childhood or adolescence. (medscape.com)
  • Park H, Imoto S , Miyano S. Comprehensive information-based differential gene regulatory networks analysis (CIdrgn): Application to gastric cancer and chemotherapy-responsive gene network identification. (google.com)
  • Characterization of a functional thrombin receptor. (jci.org)
  • Humanin (HN) is a short bioactive peptide abolishing neuronal cell death induced by various familial AD (FAD)-causative genes and amyloid-β (Aβ) in vitro . (jneurosci.org)
  • Skeletal defects (noticed in some patients) are not related directly to phytanic acid levels. (medscape.com)
  • We show that manipulation of TDP-43 expression levels causes significant defects in dendritic branching and outgrowth, without an immediate effect on cell viability. (nature.com)
  • Disorders where genetics play an important role, so-called genetic diseases, can be classified as single gene defects, chromosomal disorders, or multifactorial. (health.am)
  • Single gene defects are rare, with a frequency of less than 1 in 200 births. (health.am)
  • Defects in this gene are a cause of several types of hyperthyroidism. (assaygenie.com)
  • This shows approximately 30% homology with the EGF precursor gene. (wikipedia.org)
  • By contrast, all the different beta-subunits are transcribed from separate genes, show less homology, and convey the receptor specificity of the dimeric hormones. (mayocliniclabs.com)
  • A phytanic acid-restricted diet and combination docosahexaenoic acid and cholic acid therapy may inhibit disease progression. (medscape.com)
  • TDP-43 is a highly conserved, ubiquitously expressed, multifunctional nucleic acid-binding protein composed of two RNA recognition motifs (RRM), nuclear localization (NLS) and export signals (NES), and a carboxy-terminal glycine rich region. (nature.com)
  • Osei P, Northcote-Smith J, Fang J, Singh K, Ortu F, Suntharalingam K . The Bulk Breast Cancer Cell and Breast Cancer Stem Cell Activity of Bi-nuclear Copper(II)-Phenanthroline Complexes. (le.ac.uk)
  • It regulates the serum cholesterol level by influencing the level of cholesterol uptake into cells. (cdc.gov)
  • In their review " Natural and Adaptive Immunity to Cancer ", Vesely and colleagues draw from recent mouse models of cancer and human clinical data to describe how cells, effector molecules, and pathways of the immune system act to suppress and control tumor cells. (massgenomics.org)
  • The idea that the immune system might recognize and destroy tumor cells was conceived 50-100 years ago. (massgenomics.org)
  • A cell line derived from cultured tumor cells. (lookformedical.com)
  • The most usual cases are between two alcohols, an alcohol and an acid, two acids, or alcohol, and an amine or amide. (golifescience.com)
  • Salt bridges result from the neutralization of an acid and amine on side chains. (golifescience.com)
  • The receptor also recognizes apolipoprotein E (ApoE) which is found in chylomicron remnants and IDL. (wikipedia.org)
  • In a cytokine profile analysis of familial Mediterranean fever patients, we have found that interleukin-6 is considered to be one of the most crucial cytokines in familial Mediterranean fever attack since interleukin-6 had the best performance for distinguishing familial Mediterranean fever in attack from healthy controls or familial Mediterranean fever in remission, and in vitro interleukin-6 production is regulated by microRNAs-204-3p/phosphoinositide 3-kinase g pathway. (biomedcentral.com)
  • Healthy animals injected with pro-inflammatory IL-1β and tumor necrosis factor alpha (TNF-α) cytokines demonstrate 'sickness behavior' associated with social withdrawal [ 12 ]. (biomedcentral.com)
  • In addition, see what patients on our Patient Council have to share on the topic of stem cells . (michaeljfox.org)
  • Hematopoiesis is the development of immune and other blood cells from a small population of stem cells known as hematopoietic stem cells (HSCs). (brainimmune.com)
  • HSCs are pluripotent, self-renewing stem cells of the marrow cavity. (brainimmune.com)
  • Skeletal muscle growth and regeneration involves the activity of resident adult stem cells, namely satellite cells (SC). (sdbonline.org)
  • Stem Cell Reports. (knaw.nl)
  • To investigate the migraine locus around the C19p13 region through analysis of the NOTCH3 gene (C19p13.2-p13.1), previously shown to be a gene involved in CADASIL and the TNFSF7 gene (C19p13), homologous to the ligands of TNF-alpha and TNF-beta, genes that have previously been associated with migraine. (openneurologyjournal.com)
  • Malignant glucagonomas are islet cell pancreatic tumors that are discovered because of glucagonoma syndrome (in which the glucagonoma autonomously secretes glucagon), because of local mass effects, or incidentally. (medscape.com)
  • Cell damage was assessed using MTT assays, and the lactate dehydrogenase (LDH) release rate and flow cytometry were used to detect the accumulation of reactive oxygen species (ROS) and mitochondrial membrane potential respectively. (sdbonline.org)
  • This gene subfamily is constitutively active at physiological resting membrane potentials in excitable cells, including smooth muscle cells, and has been particularly linked to the human pulmonary circulation. (ersjournals.com)
  • They span the membrane of cells, allowing the selective permeation of K + ions from one side of the membrane to the other, usually from the inside of the cell to the outside. (ersjournals.com)
  • They regulate the excitability of cells and contribute to their resting membrane potential [ 1 , 2 ]. (ersjournals.com)
  • GSOs also mitigated the deleterious effects of GLU on the mitochondrial membrane potential and Cyt C release, thus alleviating mitochondrial dysfunction, and increased GSH levels and CAT activity in both cells and Drosophila brain tissue. (sdbonline.org)
  • At negative membrane potentials, TRPM4 allows Na + entry into the cell, leading to cellular membrane depolarization. (frontiersin.org)
  • Aggregation of the protein alpha-synuclein is found in Lewy bodies, a pathological hallmark of Parkinson's disease. (michaeljfox.org)
  • Alpha-synuclein (aSyn) plays a crucial role in Parkinson's disease (PD) and other synucleinopathies, since it misfolds and accumulates in typical proteinaceous inclusions. (bvsalud.org)
  • The parents of an individual with an autosomal recessive disorder typically each carry one copy of the altered gene, but do not show signs and symptoms of the disorder. (medlineplus.gov)
  • Human beings have cells with 46 chromosomes -2 sex chromosomes and 22 pairs of autosomal (non-sex) chromosomes. (health.am)
  • Since the autosomal chromosomes are paired, there are 2 copies of each gene. (health.am)
  • These include Charcot-Marie-Tooth disease type 2B, 7 forms of dilated cardiomyopathy, 8 both autosomal dominant and autosomal recessive forms of Emery-Dreifuss muscular dystrophy, 9, 10 limb girdle muscular dystrophy type 1B, 11 Dunnigan-type familial partial lipodystrophy, 12- 14 and Hutchinson-Gilford progeria. (bmj.com)
  • Long-term activation of protein kinase c causes chronic Na/H antiporter stimulation in cultured proximal tubule cells. (jci.org)
  • Antibody interaction with TSHR results in an uncontrolled receptor stimulation. (assaygenie.com)
  • In humans, seven alternatively spliced forms derive from three genes- LMNA , LMNB1 , and LMNB2 . (bmj.com)
  • One exception is hu- humanized SCID mice, the use of al oncogenic viruses that are strictly man T-cell lymphotropic virus type 1 surrogate hosts has not proven very species-specific, causing cancer in (HTLV-1): in addition to its ability to useful for defining tumour site con- humans only. (who.int)
  • that is histopathological y very simi- T cel s, B cel s, natural kil er cel s, LMP1 of EBV can transform ro- lar to that caused by hepatitis B vi- macrophages, and dendritic cells, dent fibroblasts and is expressed rus (HBV) in humans, but it does so and this humanized mouse model in most of the human cancers as- through a different mechanism. (who.int)
  • Mitochondria are highly dynamic organelles that provide essential metabolic functions and represent the major bioenergetic hub of eukaryotic cell. (hindawi.com)