FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2123295511> ?p ?o ?g. }

• W2123295511 endingPage "2407" @default.
• W2123295511 startingPage "2392" @default.
• W2123295511 abstract "Myotonia is a condition characterized by impaired relaxation of muscle following sudden forceful contraction. We systematically screened all 23 exons of the CLCN1 gene in 88 unrelated patients with myotonia and identified mutations in 14 patients. Six novel mutations were discovered: five were missense (S132C, L283F, T310M, F428S and T550M) found in heterozygous patients, and one was a nonsense mutation (E193X) in a homozygous patient. While five patients had a clinical diagnosis of myotonia congenita, the patient with the F428S mutation exhibited symptoms characteristic of paramyotonia congenita--a condition usually thought to be caused by mutations in the sodium channel gene SCN4A. Nevertheless, no mutations in SCN4A were identified in this patient. The functional consequences of the novel CLCN1 sequence variants were explored by recording chloride currents from human embryonic kidney cells transiently expressing homo- or heterodimeric mutant channels. The five tested mutations caused distinct functional alterations of the homodimeric human muscle chloride ion channel hClC-1. S132C and T550M conferred novel hyperpolarization-induced gating steps, L283F and T310M caused a shift of the activation curve to more positive potentials and F428S reduced the expression level of hClC-1 channels. All showed a dominant-negative effect. For S132C, L283F, T310M and T550M, heterodimeric channels consisting of one wild-type (WT) and one mutant subunit exhibited a shifted activation curve at low intracellular [Cl(-)]. WT-F428S channels displayed properties similar to WT hClC-1, but expressed at significantly lower levels. The novel mutations exhibit a broad variety of functional defects that, by distinct mechanisms, cause a significant reduction of the resting chloride conductance in muscle of heterozygous patients. Our results provide novel insights into functional alterations and clinical symptoms caused by mutations in CLCN1." @default.
• W2123295511 created "2016-06-24" @default.
• W2123295511 creator A5003282968 @default.
• W2123295511 creator A5005846840 @default.
• W2123295511 creator A5006311015 @default.
• W2123295511 creator A5006523160 @default.
• W2123295511 creator A5018970078 @default.
• W2123295511 creator A5034111897 @default.
• W2123295511 creator A5039689906 @default.
• W2123295511 creator A5042822354 @default.
• W2123295511 creator A5044300649 @default.
• W2123295511 creator A5047986704 @default.
• W2123295511 creator A5058346905 @default.
• W2123295511 creator A5061399870 @default.
• W2123295511 creator A5066741145 @default.
• W2123295511 creator A5069761907 @default.
• W2123295511 creator A5070475275 @default.
• W2123295511 creator A5070954626 @default.
• W2123295511 creator A5082696895 @default.
• W2123295511 creator A5090105143 @default.
• W2123295511 date "2002-11-01" @default.
• W2123295511 modified "2023-10-13" @default.
• W2123295511 title "Novel CLCN1 mutations with unique clinical and electrophysiological consequences" @default.
• W2123295511 cites W1525245904 @default.
• W2123295511 cites W1963546104 @default.
• W2123295511 cites W1965484547 @default.
• W2123295511 cites W1967312612 @default.
• W2123295511 cites W1970004399 @default.
• W2123295511 cites W1976584289 @default.
• W2123295511 cites W1983123512 @default.
• W2123295511 cites W1990361339 @default.
• W2123295511 cites W1990592293 @default.
• W2123295511 cites W2011416373 @default.
• W2123295511 cites W2017025033 @default.
• W2123295511 cites W2038794309 @default.
• W2123295511 cites W2053726766 @default.
• W2123295511 cites W2062138338 @default.
• W2123295511 cites W2064063117 @default.
• W2123295511 cites W2066872960 @default.
• W2123295511 cites W2067177559 @default.
• W2123295511 cites W2067312729 @default.
• W2123295511 cites W2070994927 @default.
• W2123295511 cites W2072091098 @default.
• W2123295511 cites W2076881300 @default.
• W2123295511 cites W2080083594 @default.
• W2123295511 cites W2083665187 @default.
• W2123295511 cites W2084329802 @default.
• W2123295511 cites W2086734513 @default.
• W2123295511 cites W2092196545 @default.
• W2123295511 cites W2098127572 @default.
• W2123295511 cites W2099088155 @default.
• W2123295511 cites W2102569557 @default.
• W2123295511 cites W2118094114 @default.
• W2123295511 cites W2120997881 @default.
• W2123295511 cites W2125577530 @default.
• W2123295511 cites W2132344166 @default.
• W2123295511 cites W2135271579 @default.
• W2123295511 cites W2143319028 @default.
• W2123295511 cites W2164797647 @default.
• W2123295511 cites W2285432701 @default.
• W2123295511 cites W2313253316 @default.
• W2123295511 cites W2407931818 @default.
• W2123295511 cites W3004021698 @default.
• W2123295511 doi "https://doi.org/10.1093/brain/awf246" @default.
• W2123295511 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12390967" @default.
• W2123295511 hasPublicationYear "2002" @default.
• W2123295511 type Work @default.
• W2123295511 sameAs 2123295511 @default.
• W2123295511 citedByCount "79" @default.
• W2123295511 countsByYear W21232955112012 @default.
• W2123295511 countsByYear W21232955112013 @default.
• W2123295511 countsByYear W21232955112014 @default.
• W2123295511 countsByYear W21232955112015 @default.
• W2123295511 countsByYear W21232955112016 @default.
• W2123295511 countsByYear W21232955112017 @default.
• W2123295511 countsByYear W21232955112018 @default.
• W2123295511 countsByYear W21232955112019 @default.
• W2123295511 countsByYear W21232955112020 @default.
• W2123295511 countsByYear W21232955112021 @default.
• W2123295511 countsByYear W21232955112022 @default.
• W2123295511 countsByYear W21232955112023 @default.
• W2123295511 crossrefType "journal-article" @default.
• W2123295511 hasAuthorship W2123295511A5003282968 @default.
• W2123295511 hasAuthorship W2123295511A5005846840 @default.
• W2123295511 hasAuthorship W2123295511A5006311015 @default.
• W2123295511 hasAuthorship W2123295511A5006523160 @default.
• W2123295511 hasAuthorship W2123295511A5018970078 @default.
• W2123295511 hasAuthorship W2123295511A5034111897 @default.
• W2123295511 hasAuthorship W2123295511A5039689906 @default.
• W2123295511 hasAuthorship W2123295511A5042822354 @default.
• W2123295511 hasAuthorship W2123295511A5044300649 @default.
• W2123295511 hasAuthorship W2123295511A5047986704 @default.
• W2123295511 hasAuthorship W2123295511A5058346905 @default.
• W2123295511 hasAuthorship W2123295511A5061399870 @default.
• W2123295511 hasAuthorship W2123295511A5066741145 @default.
• W2123295511 hasAuthorship W2123295511A5069761907 @default.
• W2123295511 hasAuthorship W2123295511A5070475275 @default.
• W2123295511 hasAuthorship W2123295511A5070954626 @default.

• next