• genes
  • Krausz C, Degl'Innocenti S, Nuti F, Morelli A, Felici F, Sansone M, Varriale G, Forti G (2006) Natural transmission of USP9Y gene mutations: A new perspective on the role of AZFa genes in male fertility. (springer.com)
  • So far, mutations in more than 50 genes have been identified to be associated with RP [ 11 , 12 ]. (hindawi.com)
  • Mutation screening in already known candidate genes by sequence analyses revealed proline to threonine substitution at codon 23 (p.Pro23Thr) in CRYGD for aculeiform type cataract in family A. The family B with four members affected by granular nuclear cataract, however, could not be linked with any of these analyzed 23 candidate genes. (springer.com)
  • At least 5% -15% of cases are known to occur because of a mutation in one of several specific genes, transmitted in either an autosomal-dominant or autosomal-recessive pattern Mutations in specific genes have been conclusively shown to cause PD. (wikipedia.org)
  • TSC is caused by a mutation of either of two genes, TSC1 and TSC2, which code for the proteins hamartin and tuberin, respectively. (wikipedia.org)
  • Silent mutations can occur in non-coding regions (outside of genes or within introns), or they may occur within exons. (wikipedia.org)
  • Five missense mutations (A287P, R457H, V492E, C569Y, and V608F) and a splicing mutation in the POR genes have been found in patients who had hormonal evidence for combined deficiencies of two steroidogenic cytochrome P450 enzymes - P450c17 CYP17A1, which catalyzes steroid 17α-hydroxylation and 17,20 lyase reaction, and P450c21 21-Hydroxylase, which catalyzes steroid 21-hydroxylation. (wikipedia.org)
  • All of these mutations as well as those causing hereditary fibrinogen Aα-Chain amyloidosis exhibit partial penetrance, i.e. only some family members with one of these mutant genes develop dysfibrinogenemia-related symptoms. (wikipedia.org)
  • All three genes are located on the long (i.e. "p") arm of human chromosome 4 (at positions 4q31.3, 4q31.3, and 4q32.1, respectively) and may contain mutations that are the cause of congenital dysfibrinogenemia. (wikipedia.org)
  • Genetic
  • Mutations in PINK1, PRKN, and DJ-1 may cause mitochondrial dysfunction, an element of both idiopathic and genetic PD. (wikipedia.org)
  • Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a very rare neurodegenerative genetic disorder that results from mutations in the gene that produces Sacsin. (wikipedia.org)
  • The "nearly neutral" theory proposes that molecular evolution acting on nonsynonymous substitutions is driven by mutation, genetic drift, and very weak natural selection, and that it is extremely sensitive to population size. (wikipedia.org)
  • Some 100 different genetic mutations occurring in more than 400 families have been found to cause it. (wikipedia.org)
  • codon
  • In this instance, if there was a thousand times less UCC tRNA than UCU tRNA, then the incorporation of serine into a polypeptide chain would happen a thousand times more slowly when a mutation causes the codon to change from UCU to UCC. (wikipedia.org)
  • Silent mutations lead to a change of one of the letters in the triplet code that represents a codon, but despite the single base change, the amino acid that is coded for remains unchanged or similar in biochemical properties. (wikipedia.org)
  • variants
  • Therefore, over the last few years, intensive research has focused on evaluating the functional consequences of CDH1 missense variants and in assessing E-cadherin pathogenicity. (mdpi.com)
  • In that context, our group has contributed to better characterize CDH1 germline missense variants and is now considered a worldwide reference centre. (mdpi.com)
  • All patients had biallelic mutations in the PRODH gene, often with several variants on the same allele. (wikipedia.org)
  • and questions such as how POR mutations cause bony abnormalities and what role POR variants play in drug metabolism by hepatic P450s are being addressed in recent publications. (wikipedia.org)
  • familial
  • This NLSD-M family shows a wide range of intra-familial phenotypic variability in subjects carrying the same mutations, both in terms of target-organs and in terms of rate of disease progression. (sigmaaldrich.com)
  • A significant number of autosomal-dominant Parkinson's disease cases are associated with mutations in the LRRK2 gene Mutations in LRRK2 are the most common known cause of familial and sporadic PD, accounting for approximately 5% of individuals with a family history of the disease and 3% of sporadic cases. (wikipedia.org)
  • germline
  • Germline mutations impairing activity of POLD1 have been implicated in several types of hereditary cancer, in some sporadic cancers, and in a developmental syndrome of premature aging, Mandibular hypoplasia, Deafness, and Progeroid features and Lipodystrophy (MDPL/MDP syndrome). (wikipedia.org)
  • impairs
  • Functionally, we show for the first time that this mutation impairs HR by disrupting the RAD51D-XRCC2 interaction and confers PARP-inhibitor sensitivity. (aacrjournals.org)
  • Residue I108 interacts with CDH23 EC2 in the handshake and its mutation impairs the interaction in vitro . (jneurosci.org)
  • residues
  • However, a paucity of appropriate animal models has slowed our understanding both of the interaction and of how mutations of residues within the predicted interface compromise tip link integrity. (jneurosci.org)
  • Through sequencing Aur B, we discovered mutations at the 885(C) and 893(T) residues in the GBM cell lines. (aacrjournals.org)
  • clinical
  • Importantly, while in most cases CDH1 alterations result in the complete loss of E-cadherin associated with a well-established clinical impact, in about 20% of cases the mutations are of the missense type. (mdpi.com)
  • spastic ataxia
  • Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. (wikipedia.org)
  • Functional
  • Previously, we quantified the effects of missense mutations on the thermodynamic stability of the BRCT domains, and we showed that many are so destabilizing that the folded functional state is drastically depopulated at physiological temperature. (sigmaaldrich.com)
  • Functional data analysis demonstrated that these mutations caused the production of ATGL proteins able to bind to LDs, but with decreased lipase activity. (sigmaaldrich.com)
  • profound
  • We found that all of the mutations, regardless of how profound their destabilizing effects, retained some DNA repair activity and thereby partially rescued the chicken BRCA1 knockout. (sigmaaldrich.com)
  • Additionally, we demonstrate an altered mobility and a decrease in the levels of fully assembled complex I in the patient's fibroblasts and cybrids, suggesting that the mutation has a profound effect on complex I assembly and/or stability. (wiley.com)
  • human
  • These results offer new insights into the interaction between PCDH15 and CDH23 and help explain the etiology of human deafness linked to mutations in the tip-link interface. (jneurosci.org)
  • patients
  • In patients with Parkinson's disease, the OR for carrying a GBA mutation was 5·43 (95% CI 3·89-7·57), confirming that mutations in this gene are a common risk factor for Parkinson's disease. (wikipedia.org)
  • Six patients were found with de-novo missense mutation and one patient was identified with de-novo splice site mutation. (wikipedia.org)
  • Some of the POR patients were born to mothers who became virilized during pregnancy, suggesting deficient placental aromatization of fetal androgens due to a lesion in microsomal aromatase resulting in low estrogen production, which was later confirmed by lower aromatase activities caused by POR mutations. (wikipedia.org)
  • disorders
  • Two common disorders associated with a mutation are: aniridia, the absence of the iris, and Peters' anomaly, thinning and clouding of the cornea. (wikipedia.org)
  • proteins
  • Nonetheless, mutations in this gene could result in the over- or under-abundance of proteins involved in the regulation of spermatogenesis. (springer.com)
  • By contrast, the mutation R1699L, which disrupts the binding of phosphorylated proteins (but which is not destabilizing), was completely inactive. (sigmaaldrich.com)
  • function
  • Incidentally, both gain-of-function and loss-of-function GBA mutations are proposed to contribute to parkinsonism through effects such as increased alpha-synuclein levels. (wikipedia.org)