• A mutation of the noggin ( NOG ) gene in a fibrodysplasia ossificans progressiva family has been described. (medscape.com)
  • [ 9 ] The FOP gene in the 17q21-22 region had been observed with several mutations described in the NOG gene (located in 17q22) in 4 fibrodysplasia ossificans progressiva patients, including the G91C mutation, which was transmitted dominantly in a Spanish fibrodysplasia ossificans progressiva family. (medscape.com)
  • A novel mutation in the activin A type 1 receptor gene was described in one patient. (medscape.com)
  • [ 13 ] . A patient from Japan with an ACVR1 gene mutation had normal development until age 17 years and a mild clinical course. (medscape.com)
  • X-linked hypophosphatemic rickets and autosomal recessive hypophosphatemic rickets are the result of mutations in PHEX (a phosphate-regulating gene with homologies to endopeptidases on the X chromosome) and dentin matrix protein 1 ( DMP1 ), respectively. (medscape.com)
  • Based on these previous analyses and clinical findings, CLRN1 was directly sequenced in 17 patients susceptible to carrying mutations in this gene. (molvis.org)
  • Heterozygous null mutations in each autism gene are demonstrated to have normal baseline neurotransmission and PHP. (sdbonline.org)
  • A subsequent electrophysiology-based genetic screen identifies the first known heterozygous mutations that commonly genetically interact with multiple ASD gene orthologs, causing PHP to fail. (sdbonline.org)
  • Here we identify recurrent mutations within Wilms tumours that involve the highly conserved YEATS domain of MLLT1 (ENL), a gene known to be involved in transcriptional elongation during early development. (nature.com)
  • Increased curiosity about CAPN3 was highly stimulated when it had been reported that mutations in its gene bring about limb-girdle muscular dystrophy (LGMD) type 2A, seen as a the continuous atrophy of hip and make muscle tissues (LGMD2A, or calpainopathy) (21). (exposed-skin-care.net)
  • As opposed to other styles of muscles dystrophy, where mutations take place in genes encoding structural protein, calpainopathy was the initial reported kind of dystrophy predetermined by mutations within a gene encoding a proteolytic enzyme. (exposed-skin-care.net)
  • You can find over 440 noted mutations within the calpain 3 gene up to now, included in this 212 (50%) are missense mutations, a lot of which alter its catalytic activity (22). (exposed-skin-care.net)
  • Mutations in the Adenomatous polyposis coli (APC) gene are responsible for the majority of cases of FAP. (spandidos-publications.com)
  • Based on an established filtering strategy and data analyses, along with confirmation by Sanger sequencing and co‑segregation, a novel frameshift mutation c.1317delA (p.Ala440LeufsTer14) in exon 10 of the APC gene was identified. (spandidos-publications.com)
  • This novel frameshift mutation causing FAP not only expands the germline mutation spectrum of the APC gene in the Chinese population, but it also increases the understanding of the phenotypic and genotypic correlations of FAP, and may potentially lead to improved genetic counseling and specific treatment for families with FAP in the future. (spandidos-publications.com)
  • Germline mutations in the tumor suppressor adenomatous polyposis coli gene (APC) on chromosome 5q22.2 are responsible for the most cases of FAP. (spandidos-publications.com)
  • The incumbent in this position plays a critical role in data annotation and curation for the Gene Ontology (GO) and Protein Ontology (PRO) programs at The Jackson Laboratory in Bar Harbor Maine, through diverse activities to gather, analyze, evaluate and integrate information and analysis results using biomedical ontologies. (bytesizebio.net)
  • Mutations in the INS R gene have been linked to insulin-resistant diabetes mellitus, noninsulin-dependent diabetes mellitus and leprechaunism, an extremely rare disorder characterized by abnormal resistance to insulin that results in a variety of distinguishing characteristics, including growth delays and abnormalities affecting the endocrine system. (rndsystems.com)
  • Rare mutations have been described in genes involved in ovarian development and/or function such as FSHR (MIM 136435), LHCGR (MIM 152790), BMP15 (MIM 300247), POF1B (MIM 300603), NOBOX (MIM 610934), INHA (MIM 147380), GDF9 (MIM 601918), NR5A1 (MIM 184757), and FIGLA (MIM 608697) and in meiotic genes [ 9 - 23 ]. (hindawi.com)
  • Nevertheless, mutations in these genes account for a minority of cases of ovarian dysfunction, indicating that additional factors remain to be identified. (hindawi.com)
  • 1 Some of these, such as the MC1R 2 and ASIP 3 genes, have been fairly well studied and useful information has been obtained by examining mutation patterns at these loci. (creation.com)
  • 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)
  • Loss of APC function results in increased level of β-catenin and activation of growth-promoting genes via the increased β-catenin/Tcf-4 transcription complexes, subsequently leading to the development of adenomatous colorectal polyps at a young age ( 9 ). (spandidos-publications.com)
  • A mutation or deletion of any of the genes that code for enzymes involved in cortisol or aldosterone synthesis results in congenital adrenal hyperplasia. (medscape.com)
  • The first sequence targeted internal transcribed spacer regions of ribosomal genes and revealed up to 100% homology with D. immitis sequences from GenBank, whereas a maximum homology of 80% was observed with D. repens sequences from GenBank. (cdc.gov)
  • Failure of nitric oxide synthesis, the major inhibitory neurotransmitter, results in a phenotype that involves complete failure of gut smooth muscle relaxation ( 8 ). (frontiersin.org)
  • Some of the stronger mutations cause a dominant white phenotype which is lethal in the homozygous condition. (creation.com)
  • Both novel mutations segregated with the phenotype. (molvis.org)
  • By contrast, high levels of Gap1 expression under sev enhancer/promoter control using amplification by the UAS/GAL4 system in an otherwise wild type background results in a rough eye phenotype due to loss of photoreceptors (Rørth, 1996). (sdbonline.org)
  • The particular phenotype that results depends on the sex of the individual, the location of the block in synthesis, and the severity of the genetic deletion or mutation. (medscape.com)
  • The remaining missense mutations, all affecting highly conserved coiled-coil domain positions, imparted destabilizing electrostatic and polar changes. (nih.gov)
  • Furthermore, the deleterious aftereffect of missense mutations can occur not merely from immediate disruption of CAPN3 function(s), but additionally from disruption from the protein's structural integrity, that could affect its intra or intermolecular protein lead and interactions to decreased stability or altered localization. (exposed-skin-care.net)
  • Activating (gain-of-function) mutations, which are generally somatic and not heritable, have been associated with progression in certain cancers. (creation.com)
  • As we recently reported, analysis of 77 FHWT by whole genome sequencing (WGS, 58 patients) or whole exomic sequencing (WES,19 patients) identified 825 high-quality somatic, non-synonymous variants, with an average of 11 candidate mutations/case (range 2-42) (ref. 6 ). (nature.com)
  • A homozygous p.Glu120Lys mutation in NANOS3 was identified in two sisters with primary amenorrhea. (hindawi.com)
  • Microarray analysis revealed the previously reported mutation p.Y63X in two unrelated patients, one of them homozygous for the mutation. (molvis.org)
  • Based on these results, a gain-of-function mutant of ZAP-70 was generated by changing the sequence Y319SDP into Y319EEI. (pasteur.fr)
  • Four remaining family members (MBD1, MBD2, MBD3 and MBD4) have been discovered on the basis of homology searches with the MeCP2 MBD amino acid sequence [ 8 ]. (biomedcentral.com)
  • As a result of alternative splicing, two INS R isoforms (A and B) that differ by the absence or presence, respectively, of a 12 aa residue sequence in the carboxyl terminus of the alpha subunit exist. (rndsystems.com)
  • INS R is highly conserved between species, rat INS R shares 94% and 97% aa sequence homology with the human and mouse receptor, respectively. (rndsystems.com)
  • Many computational methods for gaining functional insights from sequence data are based on the simple, but powerful, observation that functionally important nucleotides tend to remain unchanged over evolutionary time, because mutations at these sites generally reduce fitness and are therefore eliminated by natural selection 7 - 15 . (biorxiv.org)
  • Evolutionary turnover may cause inconsistencies between sequence orthology and functional homology that substantially limit this type of analysis. (biorxiv.org)
  • Errors may be the result of poor indexing of sequences deposited in sequence databases or inaccurate estimation of the degree of genomic polymorphisms within a species and between closely related species. (cdc.gov)
  • Mutations also result in interesting variety including white animals and white spotting phenotypes. (creation.com)
  • Molecular alterations long known to contribute to WT development include mutations and/or deletions involving WT1 , WTX , CTNNB1 and loss of imprinting or loss of heterozygosity (LOH) at 11p15 (reviewed in ref. 5 ). (nature.com)
  • Deficiency of 21-hydroxylase, resulting from mutations or deletions of CYP21A, is the most common form of CAH, accounting for more than 90% of cases. (medscape.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)
  • Scope includes mutations and abnormal protein expression. (cancerindex.org)
  • We report in-frame insertion/deletion MLLT1 mutations in FHWT that are absent in other TARGET paediatric tumour types. (nature.com)
  • Such a phenotypic variation may be the result of a single mutation or deletion. (cdc.gov)
  • In vitro analyses of apoptosis through flow cytometry and confocal microscopy show that NANOS3 capacity to prevent apoptosis was impaired by this mutation. (hindawi.com)
  • The identification of an inactivating missense mutation in NANOS3 suggests a mechanism for POI involving increased primordial germ cells (PGCs) apoptosis during embryonic cell migration and highlights the importance of NANOS proteins in human ovarian biology. (hindawi.com)
  • A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. (medscape.com)
  • In addition, various mutations that impair the function of the insulin receptor (InR) signaling pathway, as well as transgenic flies that have disrupted neuronal InR signaling, also have increased sensitivity to the intoxicating effects of ethanol. (escholarship.org)
  • Human SLC4A1/AE1 mutations cause either the erythroid disorders spherocytic haemolytic anaemia or ovalocytosis, or distal renal tubular acidosis. (tcdb.org)
  • Large repertoire of these disorders results from defective inhibitory neurotransmission that involves release of nitric oxide from prejunctional nerve terminals of motor neurons that traverse the smooth muscle layers of the gut ( 4 - 7 ). (frontiersin.org)
  • Though human biopsy samples of functional bowel disorders are difficult to obtain for obvious reasons, animal studies have provided ambiguous results regarding concentrations of nNOS in nerve terminals in pathological states ( 9 , 10 ), which phenotypically manifest as either failure of relaxation of intestinal smooth muscles or varying degrees of impairment of gastrointestinal transit ( 11 , 12 ). (frontiersin.org)
  • Several diseases can result in disorders of bone mineralization, which can be defined as the process by which osteoid becomes calcified. (medscape.com)
  • Glioblastoma (GBM), a very aggressive and incurable tumor, often results from constitutive activation of EGFR (epidermal growth factor receptor) and of phosphoinositide 3-kinase (PI3K). (sdbonline.org)
  • Finally, a genetic absence of the receptor for calcitriol results in deficient calcification. (medscape.com)
  • We have previously shown that after T-cell antigen receptor stimulation, Lck binds to ZAP-70 via its Src homology 2 (SH2) domain (LckSH2) and, more recently, that Tyr319 of ZAP-70 is phosphorylated in vivo and plays a positive regulatory role. (pasteur.fr)
  • Ligand binding induces a conformational change of the receptor, resulting in ATP binding, autophosphorylation, and subsequent downstream signaling. (rndsystems.com)
  • On the basis of molecular modelling, the two mutations affecting the myosin head were predicted to impose electrostatic and conformational changes, whereas the truncating mutation deleted the unique carboxy-terminal tailpiece. (nih.gov)
  • In essence, the "experiment" considered by these methods is the one conducted directly on genomes by nature over millenia, and the outcomes of interest are the presence or absence of fixed mutations. (biorxiv.org)
  • IOP elevation in human glaucoma results from an obstruction of the outflow system leading to an abnormal increase in eye pressure, death of retinal ganglion cells and loss of vision. (yale.edu)
  • We identified six MYH9 mutations (one nonsense and five missense) in seven unrelated probands from MHA, SBS and FTNS families. (nih.gov)
  • Most of the mutations causing FAP are nonsense or frameshift mutations, and can result in premature stop codons thus produce truncated APC proteins ( 7 ). (spandidos-publications.com)
  • The results show that nonnative proteins are more structured and less solvent exposed than commonly believed. (lu.se)
  • Each mutation was verified by Sanger sequencing of PCR products spanning the variants ( Fig. 1 ). (nature.com)
  • It really is plausible which the subcellular localization of CAPN3 determines its particular mobile function, which mutations make a difference some of those features straight or indirectly (1). (exposed-skin-care.net)
  • One fourth of these patients present with cyclical vomiting, which may be explained by junctionopathy resulting from shank deficit in enteric nitrergic nerve terminals. (frontiersin.org)
  • Further, patients with MLLT1 mutations presented at a younger age and were associated with ILNR rather than PLNR. (nature.com)
  • In San Diego County, clinicians treating cephalosporin-allergic patients with a 2 g dose of azithromycin for uncomplicated gonorrhea are advised to obtain tests of cure 3 weeks after treatment and to recommend sexual abstinence until a negative test result for gonorrhea is achieved. (cdc.gov)
  • Results: 78 patients were included. (bvsalud.org)
  • RESULTS: MC3R loss-of-function variants were infrequent but overrepresented in patients with CDGP (8/362 (2.2%), OR = 4.17, p = 0.001). (bvsalud.org)
  • As a result of its increased ability to bind LckSH2, this mutant induced a dramatic increase in NFAT activity in Jurkat T-cells, was hyperphosphorylated, and displayed a higher catalytic activity compared with wild-type ZAP-70. (pasteur.fr)
  • Alternative splicing results in multiple transcript variants encoding distinct isoforms. (cancerindex.org)
  • Despite the increasing understanding of female reproduction, defined causes or mechanisms resulting in primary ovarian insufficiency remain largely unknown [ 7 ]. (hindawi.com)
  • 5 This explains why heritable loss-of-function mutations sometimes have pleiotropic effects, not only resulting in white color patterns, but also anemia and/or infertility. (creation.com)
  • While loss-of-function mutations in hppy resulted in resistance to ethanol-induced sedation, neuronal overexpression of hppy caused increased sensitivity. (escholarship.org)
  • Tyrosine 319 in the interdomain B of ZAP-70 is a binding site for the Src homology 2 domain of Lck. (pasteur.fr)
  • This may involve significant role of "shank," named for SRC-homology (SH3) and multiple ankyrin repeat domains, in nitric oxide synthesis. (frontiersin.org)
  • In a study to better understand the neuroanatomical substrates and molecular pathways underlying ethanol sensitivity in Drosophila, we found that genetic manipulation of a small group of insulin producing cells results in a strong increase in sensitivity to ethanol-induced sedation. (escholarship.org)
  • A single missense mutation allows AE1 to mediate both electrogenic SO 4 2- -Cl - exchange or electroneutral, H + -independent SO 4 2- -SO 4 2- exchange ( Alper 2006 ). (tcdb.org)
  • Some mutations result in pleiotropy, although this is variable depending on genetic background, type of mutation, and location of the mutation. (creation.com)
  • Interestingly, the resulting hyperplastic glia express high levels of key components of the lysosomal-autophagic compartment, including vacuolar-type H(+)-ATPase (V-ATPase) subunits and ref(2)P (refractory to Sigma P), the Drosophila homolog of SQSTM1/p62. (sdbonline.org)
  • Transient transfection of Fos-GHR or Jun-GHR resulted in activation of the serine protease inhibitor 2.1 promoter in Chinese hamster ovary-K1 cells to a level equal to that achieved by fully activated wild type GHR. (ku.dk)
  • Furthermore, stable expression of Jun-GHR alone or Fos-GHR and Jun-GHR together in the interleukin 3-dependent BaF-B03 cell line resulted in cell proliferation after interleukin 3 withdrawal at a rate equal to maximally stimulated wild type GHR-expressing cells. (ku.dk)
  • Our results indicate that several dozens of proteins for each cell type, are PE-lipoxidated in HT-22, MLE, and H9c2 cells and M2 macrophages after they were induced to undergo ferroptosis. (cdc.gov)
  • Clinical results and laboratory examination findings vary with each disorder. (medscape.com)
  • Specific point mutations in human anion exchanger 1 (AE1) convert this electroneutral anion exchanger into a monovalent cation conductance. (tcdb.org)
  • Four were human immunodeficiency virus (HIV)-negative by self-report and one had an HIV-negative test result. (cdc.gov)
  • We have generated fitCons scores for three human cell types based on public data from EN-CODE. (biorxiv.org)
  • Although hppy shows strong homology to mammalian Ste20 family kinases involved in JNK signaling, we found that neither activation nor inhibition of the JNK pathway affected ethanol-induced sedation. (escholarship.org)
  • If the enzyme that controls either of these steps is deficient because of a mutation, vitamin D function is less than normal. (medscape.com)
  • These data support a model whereby activating MLLT1 mutations early in renal development result in the development of Wilms tumour. (nature.com)
  • We conclude that activating MLLT1 mutations accompanied by Wnt activation early in renal development result in the development of Wilms tumour. (nature.com)
  • This will contribute to a deeper understanding of the role mutations play and better inform apologetic arguments as it further builds the creation model. (creation.com)
  • Many mutations have been identified in each of the species studied. (creation.com)
  • This system with the two main parts and their groups makes it possible to combine two (or more) distinct searches into one search result, while being flexible in removing results from the final list. (diva-portal.org)
  • These MLLT1 mutations were associated with changes in binding to H3K9ac, evidence of HOX and MYC (MYC-C) expression dysregulation, and were often accompanied by CTNNB1 mutations and evidence of Wnt pathway activation. (nature.com)
  • Our data claim that D705G and R448H mutations AZ-33 affect both CAPN3s anchorage to titin and its own balance. (exposed-skin-care.net)
  • Previously, creationist studies have pointed out the importance of evaluating genetic data to determine the types of mutations which have likely occurred throughout history. (creation.com)
  • There is a need for standardization in terms and definitions for this field to support accurate communication of concepts, data, and results. (nist.gov)