FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3087229207> ?p ?o ?g. }

• W3087229207 endingPage "1972" @default.
• W3087229207 startingPage "1962" @default.
• W3087229207 abstract "Abstract Objective ITPR3 , encoding inositol 1,4,5‐trisphosphate receptor type 3, was previously reported as a potential candidate disease gene for Charcot‐Marie‐Tooth neuropathy. Here, we present genetic and functional evidence that ITPR3 is a Charcot‐Marie‐Tooth disease gene. Methods Whole‐exome sequencing of four affected individuals in an autosomal dominant family and one individual who was the only affected individual in his family was used to identify disease‐causing variants. Skin fibroblasts from two individuals of the autosomal dominant family were analyzed functionally by western blotting, quantitative reverse transcription PCR, and Ca 2+ imaging. Results Affected individuals in the autosomal dominant family had onset of symmetrical neuropathy with demyelinating and secondary axonal features at around age 30, showing signs of gradual progression with severe distal leg weakness and hand involvement in the proband at age 64. Exome sequencing identified a heterozygous ITPR3 p.Val615Met variant segregating with the disease. The individual who was the only affected in his family had disease onset at age 4 with demyelinating neuropathy. His condition was progressive, leading to severe muscle atrophy below knees and atrophy of proximal leg and hand muscles by age 16. Trio exome sequencing identified a de novo ITPR3 variant p.Arg2524Cys. Altered Ca 2+ ‐transients in p.Val615Met patient fibroblasts suggested that the variant has a dominant‐negative effect on inositol 1,4,5‐trisphosphate receptor type 3 function. Interpretation Together with two previously identified variants, our report adds further evidence that ITPR3 is a disease‐causing gene for CMT and indicates altered Ca 2+ homeostasis in disease pathogenesis." @default.
• W3087229207 created "2020-09-25" @default.
• W3087229207 creator A5004993292 @default.
• W3087229207 creator A5010442545 @default.
• W3087229207 creator A5010677190 @default.
• W3087229207 creator A5019565239 @default.
• W3087229207 creator A5020910626 @default.
• W3087229207 creator A5023082449 @default.
• W3087229207 creator A5031506785 @default.
• W3087229207 creator A5036123048 @default.
• W3087229207 creator A5049261938 @default.
• W3087229207 creator A5050847001 @default.
• W3087229207 creator A5065676496 @default.
• W3087229207 creator A5073926095 @default.
• W3087229207 creator A5077098159 @default.
• W3087229207 creator A5080499234 @default.
• W3087229207 creator A5087581647 @default.
• W3087229207 creator A5089901203 @default.
• W3087229207 creator A5090135910 @default.
• W3087229207 date "2020-09-19" @default.
• W3087229207 modified "2023-10-18" @default.
• W3087229207 title "Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease" @default.
• W3087229207 cites W1967695195 @default.
• W3087229207 cites W1976746355 @default.
• W3087229207 cites W1979096599 @default.
• W3087229207 cites W1985207083 @default.
• W3087229207 cites W1999825570 @default.
• W3087229207 cites W2046421695 @default.
• W3087229207 cites W2046745652 @default.
• W3087229207 cites W2047995038 @default.
• W3087229207 cites W2048750982 @default.
• W3087229207 cites W2059988834 @default.
• W3087229207 cites W2069238130 @default.
• W3087229207 cites W2070053976 @default.
• W3087229207 cites W2076265694 @default.
• W3087229207 cites W2092327068 @default.
• W3087229207 cites W2136746857 @default.
• W3087229207 cites W2151372200 @default.
• W3087229207 cites W2160385640 @default.
• W3087229207 cites W2160647546 @default.
• W3087229207 cites W2160995259 @default.
• W3087229207 cites W2162322549 @default.
• W3087229207 cites W2166432730 @default.
• W3087229207 cites W2173669563 @default.
• W3087229207 cites W2336702220 @default.
• W3087229207 cites W2336716466 @default.
• W3087229207 cites W2464889374 @default.
• W3087229207 cites W2483776236 @default.
• W3087229207 cites W2514169237 @default.
• W3087229207 cites W2731581547 @default.
• W3087229207 cites W2850305266 @default.
• W3087229207 cites W2888377732 @default.
• W3087229207 cites W2898534233 @default.
• W3087229207 cites W2908957874 @default.
• W3087229207 cites W2915736024 @default.
• W3087229207 cites W2965229043 @default.
• W3087229207 cites W2969614841 @default.
• W3087229207 cites W2980525511 @default.
• W3087229207 cites W2996226246 @default.
• W3087229207 cites W2999920472 @default.
• W3087229207 cites W3011822431 @default.
• W3087229207 cites W3032777020 @default.
• W3087229207 doi "https://doi.org/10.1002/acn3.51190" @default.
• W3087229207 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7545616" @default.
• W3087229207 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32949214" @default.
• W3087229207 hasPublicationYear "2020" @default.
• W3087229207 type Work @default.
• W3087229207 sameAs 3087229207 @default.
• W3087229207 citedByCount "9" @default.
• W3087229207 countsByYear W30872292072021 @default.
• W3087229207 countsByYear W30872292072022 @default.
• W3087229207 countsByYear W30872292072023 @default.
• W3087229207 crossrefType "journal-article" @default.
• W3087229207 hasAuthorship W3087229207A5004993292 @default.
• W3087229207 hasAuthorship W3087229207A5010442545 @default.
• W3087229207 hasAuthorship W3087229207A5010677190 @default.
• W3087229207 hasAuthorship W3087229207A5019565239 @default.
• W3087229207 hasAuthorship W3087229207A5020910626 @default.
• W3087229207 hasAuthorship W3087229207A5023082449 @default.
• W3087229207 hasAuthorship W3087229207A5031506785 @default.
• W3087229207 hasAuthorship W3087229207A5036123048 @default.
• W3087229207 hasAuthorship W3087229207A5049261938 @default.
• W3087229207 hasAuthorship W3087229207A5050847001 @default.
• W3087229207 hasAuthorship W3087229207A5065676496 @default.
• W3087229207 hasAuthorship W3087229207A5073926095 @default.
• W3087229207 hasAuthorship W3087229207A5077098159 @default.
• W3087229207 hasAuthorship W3087229207A5080499234 @default.
• W3087229207 hasAuthorship W3087229207A5087581647 @default.
• W3087229207 hasAuthorship W3087229207A5089901203 @default.
• W3087229207 hasAuthorship W3087229207A5090135910 @default.
• W3087229207 hasBestOaLocation W30872292071 @default.
• W3087229207 hasConcept C104317684 @default.
• W3087229207 hasConcept C10590036 @default.
• W3087229207 hasConcept C142724271 @default.
• W3087229207 hasConcept C16671776 @default.
• W3087229207 hasConcept C188997412 @default.
• W3087229207 hasConcept C2777767895 @default.
• W3087229207 hasConcept C2779134260 @default.

• next