• 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)
  • 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)
  • 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)
  • familial
  • 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
  • In that context, our group has contributed to better characterize CDH1 germline missense variants and is now considered a worldwide reference centre. (mdpi.com)
  • 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)
  • 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)
  • 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)
  • Mutants
  • Mutants corresponding to Asn172 or Trp356 mutation were constructed by site-directed mutagenesis of the normal c21 cDNA clone. (uniprot.org)
  • 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)
  • 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)
  • 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)
  • 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)
  • causes
  • 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)
  • mice
  • In mice, the mutation results in defective synaptic transmission characterized by a slower recovery from depression after trains of stimulation. (sigmaaldrich.com)
  • Mapping and sequencing showed that noddy mutant mice harbor an isoleucine-to-asparagine (I108N) mutation in the EC1 repeat of PCDH15. (jneurosci.org)
  • interaction
  • 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)
  • type
  • 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)
  • 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)
  • however
  • There are many different mutations described in LRRK2, however unequivocal proof of causation only exists for a small number. (wikipedia.org)
  • either
  • They failed to produce active enzyme toward either substrate upon transfection into COS-1 cells, demonstrating that these mutations caused CAH. (uniprot.org)