• Complement receptor type 1 (CR1) also known as C3b/C4b receptor or CD35 (cluster of differentiation 35) is a protein that in humans is encoded by the CR1 gene. (wikipedia.org)
  • Decreases in expression of this protein and/or mutations in its gene have been associated with gallbladder carcinomas, mesangiocapillary glomerulonephritis, systemic lupus erythematosus and sarcoidosis. (wikipedia.org)
  • The most common allelic variant of the human CR1 gene (CR1*1) is composed of 38 exons spanning 133kb encoding a protein of 2,039 amino acids with a predicted molecular weight of 220 kDa. (wikipedia.org)
  • A determining factor for susceptibility to BSE prions is a polymorphism for methionine (M) or valine (V) at codon 129 of the human prion protein gene ( PRNP ). (cdc.gov)
  • This complex gene codes for a complex protein important in a number of pathways. (creation.com)
  • This complex organization of the gene reflects the complex nature of the protein receptor it produces. (creation.com)
  • In hypermobility type of Ehlers-Danlos syndrome , haploinsufficiency (where one copy is unable to produce the protein in sufficient quantity) due to a 30-kb deletion of tenascin-X (TNXB) gene is responsible for the disease. (dorak.info)
  • In the developing male (XY) gonad, sex-determining region of the Y (SRY) protein acts to up-regulate expression of the related gene, SOX9 , a transcriptional regulator that in turn initiates a downstream pathway of testis development, whilst also suppressing ovary development. (plos.org)
  • The byg mutation is an A to T transversion causing a premature stop codon in the gene encoding MAP3K4 (also known as MEKK4), a mitogen-activated protein kinase kinase kinase. (plos.org)
  • The Y-linked sex determining gene SRY regulates this process by initiating a pathway of gene and protein expression, including the expression of critical autosomal genes such as SOX9 . (plos.org)
  • This mutant, which we called boygirl ( byg ), was shown to contain an early stop codon that disrupts the autosomal gene encoding MAP3K4, a component of the mitogen-activated protein kinase (MAPK) signaling pathway. (plos.org)
  • 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)
  • If a gene is abnormal, it may code for an abnormal protein or for an abnormal amount of a normal protein. (health.am)
  • This gene provides instructions for making a protein called progranulin. (medlineplus.gov)
  • People with a mutation in one copy of the GRN gene in each cell (heterozygotes) have some functional progranulin protein and develop GRN -related frontotemporal lobar degeneration. (medlineplus.gov)
  • Individuals who inherit sickle-cell genes from both parents are homozygotes and develop SCD, while those who inherit the gene from only one parent have the sickle-cell trait (SCT). (who.int)
  • 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)
  • The protein encoded by this gene is an omega class glutathione S-transferase (GST). (cancerindex.org)
  • What does this gene/protein do? (cancerindex.org)
  • What pathways are this gene/protein implicaed in? (cancerindex.org)
  • Luciferase assays and online miRNA databases were used to validate that tumor protein p53 (TP53) is the target gene of miR‑125b. (spandidos-publications.com)
  • individuals who have inherited two copies of the gene (homozygotes) have an 80- to 100-fold increased risk. (stoptheclot.org)
  • In these trials, a favorable safety profile was observed, and in our post hoc analyses of data from these trials, we observed promising clinical signals in a subset of patients with two copies of the APOE4 gene, or APOE4/4 homozygotes, who have greater beta amyloid burden and develop AD earlier. (biospace.com)
  • Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor. (jamanetwork.com)
  • Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. (bvsalud.org)
  • The sickle-cell gene, protein S (PS). (who.int)
  • For example, we are finding out that homozygotes for the APOE4 gene responded to tramiprosate . (medscape.com)
  • There is no distinguishable difference between the affected phenotype of the heterozygote and homozygote (exception- see co-dominant). (dvm360.com)
  • And what would you see in a homozygote/heterozygote for these defects? (flashcardmachine.com)
  • Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures. (bvsalud.org)
  • In 5'-3' order the genes in this region are: membrane cofactor protein - CR1 - complement receptor type 2 - decay-accelerating factor - C4-binding protein. (wikipedia.org)
  • Mutations in these genes affect proteins involved in the signaling pathway for pigment production and explain a large amount of the color variation in mammals. (creation.com)
  • Most genes carry information which is necessary to synthesize a protein. (health.am)
  • If one of these genes is defective, the other may code for sufficient protein, so that no disease is clinically apparent. (health.am)
  • We use basic and clinical research to understand the cells, proteins, and genes that lead to successful recovery of function, and also how complications develop that impact quality of life after stroke. (stanford.edu)
  • Extensive evidence has revealed that the core clock machinery involves "clock genes" and "clock proteins" functioning as molecular cogs. (bioone.org)
  • In APOE4 homozygotes, only apoA-I and apoE monomer were detected. (elsevierpure.com)
  • [ 25 ] In particular, studies have revealed that keratosis follicularis (Darier disease) keratinocytes displayed abnormal trafficking of the desmosomal protein desmoplakin and abnormal expression of cytokeratins 10 and 14. (medscape.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)
  • Scope includes mutations and abnormal protein expression. (cancerindex.org)
  • Heterozygous individuals inherit one abnormal and one normal allele which can make the functional protein. (dvm360.com)
  • With a homozygote, only one abnormal. (flashcardmachine.com)
  • viscosity, reduced red cell deformability, The main objectives of this study were abnormal red cell adhesive properties, en- to assess platelet aggregation patterns and dothelial intimal proliferation, bone marrow levels of PC, PS and AT III in SCA patients or fat embolism and a chronic hypercoagula- in the steady state and in vaso-occlusive ble state [6]. (who.int)
  • No unique phenotype for genetic homozygotes has been reported. (medscape.com)
  • Most mutations in ATM result in truncation and destabilisation of the protein, but certain missense and splicing errors have been shown to produce a less severe phenotype. (bmj.com)
  • Hewitt AWBennett SLDimasi DPCraig JEMackey DA A myocilin Gln368STOP homozygote does not exhibit a more severe glaucoma phenotype than heterozygous cases. (jamanetwork.com)
  • Genotype specific effect estimates suggested: 1) an inverse relationship between hemoglobin and cadmium levels among HFE H63D homozygotes, and 2) an inverse relationship between vitamin C intake and cadmium levels that strengthens with the number of HFE H63D variant alleles a subject carries. (cdc.gov)
  • sec5 mutations have been identified and characterized in Drosophila in order to delineate the role of the protein in neurons and particularly at synapses. (sdbonline.org)
  • The mechanisms by which specific ATP2A2 mutations impact the function of the ATP2A2 protein have been investigated using an in vitro model. (medscape.com)
  • In a different study, in which researchers systematically analyzed mutations identical to those found in patients with Darier disease, mutant SERCA2 protein aggregates were found to cause stress to the endoplasmic reticulum, subsequently inducing cell apoptosis. (medscape.com)
  • It has long been speculated that the adaptor protein Disabled (Dab), which is a key regulator of neuronal migration in the vertebrate brain, might be a component of this signaling pathway, but this idea has been controversial. (biologists.com)
  • [ 7 ] Thus, diverse biochemical mechanisms are responsible for altered protein function. (medscape.com)
  • Most of the congenital coagulation protein disorders reported in domestic animals are deficiencies or abnormalities of a single factor. (msdvetmanual.com)
  • However, mRNA and protein levels for CD2AP and podocin were greatly reduced, suggesting a cooperative role for these molecules in foot process and slit diaphragm formation. (nih.gov)
  • Additionally, transfection with 50 nM miR‑125b mimics markedly reduced the mRNA and protein expression levels of TP53 in the cultured lens epithelial cells, and miR‑125b significantly induced apoptosis in the epithelial cells compared with negative control cells. (spandidos-publications.com)
  • Schematic diagram of the mature nonglycosylated prion protein and below amino acid sequences of the human and the simian prion polypeptide chain. (cdc.gov)
  • The normal reference value for the activated protein C resistance (APCR) ratio is greater than 2.1. (medscape.com)
  • Spontaneous central vein thrombosis in a patient with activated protein C resistance and dengue infection: An association or causation? (medscape.com)
  • Sickle-cell anaemia (SCA) was first rec- aggregability, elevated beta thromboglobu- ognized as a haematological disorder more lin, reduced levels of protein C (PC) and than 90 years ago [1]. (who.int)
  • The condition can be autosomal or sex-linked (defect on either the X or Y chromosome) Autosomal recessive traits result in an inability to produce a functional protein. (dvm360.com)
  • In a severe deficiency or functional defect of coagulation proteins, clinical signs appear at an early age. (msdvetmanual.com)
  • Insufficient production of coagulation proteins or limited access to vitamin K by the immature neonatal liver may exacerbate a coagulation defect. (msdvetmanual.com)
  • Treatment is supportive through aggressive multidisciplinary care along with small-molecule correctors and potentiators targeting the cystic fibrosis transmembrane conductance regulator protein defect. (msdmanuals.com)
  • Two of them are homozygous for the stop mutation E193X, leading to complete loss of alpha-NAGA protein. (bmj.com)
  • Homozygotes for a targeted null mutation die soon after implantation. (jax.org)
  • The RR was significantly higher in patients with a 6-bp deletion homozygote (-6 bp/-6 bp) in TS-3'UTR (55.0% vs . 30.3% in +6 bp/+6 bp or +6 bp/-6 bp, p = 0.034), and C/A or A/A in XPD156 (52.0% vs . 26.1% in C/C, p = 0.038). (biomedcentral.com)
  • These data were recapitulated in vivo, where G/G homozygotes had significantly higher resistin mRNA levels in human abdominal subcutaneous fat. (diabetesjournals.org)
  • Inactivation of TCF7L2 protein attained by removing the high-mobility group (HMG)-box DNA binding domain in mature adipocytes in vivo leads to whole-body glucose intolerance and hepatic insulin resistance. (medscape.com)
  • Electron microscopy reveals loss of desmosomes (epithelial intercellular junctions formed by membrane and submembrane protein complexes), breakdown of desmosome-keratin intermediate filament attachment, and perinuclear aggregates of keratin intermediate filaments. (medscape.com)
  • Cataracts are the leading cause of blindness worldwide and are characterized by progressive aggregation and precipitation of lens proteins, and the development of age‑related cataracts is associated with dysregulated cellular activities of lens epithelial cells. (spandidos-publications.com)
  • Molecular genetic methods were implemented into the screening examinations for thrombophilic disorders in the 1990's along with the first discoveries of coagulation inhibitors (AT, protein C and protein S). The discovery of the molecular cause of activated protein C (APC) resistance by Bertina in 1994 greatly expanded their utilization. (intechopen.com)
  • Using immunolocalisation of the meiotic proteins, we examined chromosome pairing and recombination in males from the hybrid zone. (preprints.org)
  • ZIP4 is a ZMM protein involved in homologous recombination and may act as a hub through physical interactions with components of the chromosome axis and other ZMMs 19 . (nature.com)
  • Marked reductions in activity of coagulation proteins essential to hemostasis are usually fatal. (msdvetmanual.com)
  • If activity of any particular coagulation protein is 5%-10% of normal, the neonate may survive, but signs usually appear before 6 months of age. (msdvetmanual.com)
  • A thesis is proposed here, based on rational argument that depletion of the cytoskeletal organizer protein shank3 may result in defective nNOS membrane localization, resulting in defective nitric oxide synthesis. (frontiersin.org)
  • Here, we report positional cloning of Pairing homoeologous 2 (Ph2) and functional validation of the wheat DNA mismatch repair protein MSH7-3D as a key inhibitor of homoeologous recombination, thus solving a half-century-old question. (nature.com)
  • The exocyst complex, a set of eight proteins first identified from secretory mutants in yeast, is an attractive candidate for mediating directed traffic. (sdbonline.org)
  • The investigators found that the resultant transfected cells showed defects in ATP2A2 protein expression (15 mutants), ATP hydrolysis (29 mutants), calcium transport (4 mutants), and calcium binding and kinetics (3 mutants). (medscape.com)
  • There may also be normal protein produced by the normal allele, but this may be insufficient for normal function. (dvm360.com)
  • Before clinical signs were noted, we detected a non-type 2B signature, indicating the existence of atypical prion protein during the incubation period. (cdc.gov)
  • If the results hold up, they could explain why some ApoE3/E3 homozygotes, a supposedly risk-neutral group, have LOAD risk that parallels that of E4 carriers, and may improve stratification of participants in future clinical trials. (alzforum.org)
  • Here we outline the current status of the viral evasion mechanism underlying the regulation of the cGAS-STING pathway, focusing on how post-transcriptional modifications, viral proteins, and non-coding RNAs involve innate immunity during viral infection, attempting to inspire new targets discovery and uncover potential clinical antiviral treatments. (frontiersin.org)
  • In the prospectus, Alzheon notes, "We believe that we are the only company developing a clinical stage small molecule with a mechanism of action designed to prevent the misfolding and aggregation of beta amyloid protein into neurotoxic oligomers. (biospace.com)
  • These factors combined indicate a 85-95% functional deficiency, similar to that seen with ZZ homozygotes. (bbk.ac.uk)
  • but these polymorphisms resulted in expression of inactive proteins that should not be subject to inhibition. (aspetjournals.org)
  • Several polymorphisms in TS may influence TS mRNA transcription, stability, or protein expression. (biomedcentral.com)
  • Homozygotes for factor V Leiden usually have APRC ratios of less than 1.5. (medscape.com)
  • Personer, der er homozygote for faktor V Leiden - eller faktor II-varianten, eller som har en dobbelt heterozygoti, har en forhøjet risiko for VTE [5]. (ugeskriftet.dk)
  • The TDP-43 protein forms clumps (aggregates) that may interfere with cell functions and ultimately lead to cell death. (medlineplus.gov)
  • Some studies of keratosis follicularis (Darier disease) have suggested that alterations in calcium regulation may affect the synthesis, folding, or trafficking of desmosomal proteins. (medscape.com)
  • Disease manifests only in homozygotes. (msdmanuals.com)
  • The majority of the protein was present as functionally inactive polymer, and the remaining monomer was 37% active relative to the wild-type protein. (bbk.ac.uk)
  • Four protein species were detected by silver nitrate staining in subjects with an APOE3 allele: apoA-I, apoE monomer, apoE-apoA-II heterodimer, and apoE homodimer. (elsevierpure.com)
  • Within neurons, multiple pathways are known to transport proteins and transmitters to the cell surface. (sdbonline.org)
  • Another distinction that has been drawn contrasts the constitutive and the regulated pathways to distinguish the ongoing transport of protein and lipid to the cell surface from the ability to secrete hormones and transmitters in response to specific stimuli. (sdbonline.org)
  • Two important pathways were examined in the current study: (1) a basic pathway of exocytosis that brings new proteins to the cell surface and permits the cell to grow, and (2) synaptic transmission, a specialized form of exocytosis, regulated by Ca 2+ entry, in which vesicles already present at synapses fuse with the membrane and recycle locally (Murthy, 2003). (sdbonline.org)
  • 4 , 10 There is evidence to suggest that these proteins respond to DNA damage by phosphorylating one or more substrates, including p53, c-Abl, and replication protein A (RPA), to recruit proteins to regions of DNA repair and/or to activate radiation signal transduction pathways. (bmj.com)
  • 8 , 9 The protein is a member of a novel family of large proteins, which show sequence homology to the catalytic domain of phosphatidylinositol 3 kinase, 3 and are implicated in cell cycle regulation, signal transduction, and the response to DNA damage. (bmj.com)
  • Using antibodies to podocyte proteins important for podocyte function, we found that Lmx1b(-/-) podocytes express near-normal levels of nephrin, synaptopodin, ZO-1, alpha3 integrin, and GBM laminins. (nih.gov)
  • The CFTR variants have been divided into six classes based on how the variant affects the function or processing of the CFTR protein. (msdmanuals.com)
  • A commonly seen in the superior and can cleave pth-related protein intake must be subtle ovulatory with urinary iodine. (lorenzopetrantoni.com)
  • The protein mediates cellular binding to particles and immune complexes that have activated complement. (wikipedia.org)
  • CR1 and CR2 on murine B cells form complexes with a co-accessory activation complex containing CD19, CD81, and the fragilis/Ifitm (murine equivalents of LEU13) proteins. (wikipedia.org)
  • Background: Because iron and cadmium share common transport mechanisms, iron-processing protein variants such as HFE C282Y, HFE H63D, and Transferrin P570S may influence cadmium metabolism. (cdc.gov)
  • The models of most immune evasion during innate immune responses are conserved, including altering the post-transcriptional modifications (PTMs) of vital proteins to inactivate or degrade these components, eluding DNA sensing from PRRs, decreasing cyclic GMP-AMP (cGAMP) cellular abundance, and modifying metabolism approach in host cells ( Eaglesham and Kranzusch, 2020 ). (frontiersin.org)
  • Zhou ZVollrath D A cellular assay distinguishes normal and mutant TIGR/myocilin protein. (jamanetwork.com)
  • Los individuos heterocigotos son sanos y tienen una función normal de los granulocitos en tanto que los homocigotos presentan ocasionalmente anomalías esqueléticas, retraso del desarrollo y convulsiones. (bvsalud.org)
  • Our results indicate that reduced levels of proteins associated with foot processes and the glomerular slit diaphragm likely contribute, along with reduced levels of GBM collagens, to the nephropathy associated with NPS. (nih.gov)
  • Expression analysis of mutant XY gonads at the same stage also reveals a dramatic reduction in Sox9 and, crucially, Sry at the transcript and protein levels. (plos.org)
  • At least two alleles reduce the effectiveness of the vitamin-D binding protein, and their homozygotes account for 9% and 18% of French Canadians (Sinotte et al. (blogspot.com)
  • Approximately 10% of AT homozygotes develop cancer, mostly of the lymphoid system. (bmj.com)
  • Evidence has suggested the role of motor proteins like myosin Va in transposition of nNOS within the nerve terminals to the membranes to facilitate nitrergic neurotransmission ( 11 , 12 ). (frontiersin.org)
  • Results were validated in 135 homozygotes detected through other family and population studies. (nih.gov)
  • The hormone resistin is a member of a novel family of cysteine-rich secreted proteins associated with pulmonary inflammation (FIZZ3) and expressed in the murine small bowel and adipose tissue ( 1 ). (diabetesjournals.org)
  • However, studies have shown that the disorder is characterized by the buildup of a protein called TAR DNA-binding protein 43 (TDP-43) in certain brain cells. (medlineplus.gov)
  • Genetic epistasis tests show that Dab functions upstream of Abl and ena , and, consistent with this, we show that Dab is required for the subcellular localization of these two proteins. (biologists.com)
  • If a condition is inherited in a dominant fashion, but homozygotes are affected to a greater degree than heterozygotes the inheritance pattern is considered co-dominant or semi-dominant. (dvm360.com)