FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3171229713> ?p ?o ?g. }

• W3171229713 abstract "Rhabdomyolysis is the acute breakdown of skeletal myofibres in response to an initiating factor, most commonly toxins and over exertion. A variety of genetic disorders predispose to rhabdomyolysis through different pathogenic mechanisms, particularly in patients with recurrent episodes. However, the majority of cases remain without a genetic diagnosis. Here we present six patients who presented with severe and recurrent rhabdomyolysis, usually with onset in the teenage years; other features included a history of myalgia and muscle cramps. We identified ten bi-allelic loss-of-function variants in the gene encoding obscurin (OBSCN) co-segregating with disease. We show reduced expression of OBSCN and loss of obscurin protein in patient muscle. Obscurin is proposed to be involved in SR function and Ca2+ handling. Patient cultured myoblasts appear more susceptible to starvation as evidenced by a greater decreased in SR Ca2+ content compared to control myoblasts. This likely reflects a lower efficiency when pumping Ca2+ back into the SR and/or a decrease in Ca2+ SR storage ability when metabolism is diminished. OSBCN variants have previously been associated with cardiomyopathies. None of the patients presented with a cardiomyopathy and cardiac examinations were normal in all cases in which cardiac function was assessed. There was also no history of cardiomyopathy in first degree relatives, in particular in any of the carrier parents. This cohort is relatively young, thus follow-up studies and the identification of additional cases with bi-allelic null OBSCN variants will further delineate OBSCN-related disease and the clinical course of disease." @default.
• W3171229713 created "2021-06-22" @default.
• W3171229713 creator A5000871892 @default.
• W3171229713 creator A5011174794 @default.
• W3171229713 creator A5011213147 @default.
• W3171229713 creator A5016823690 @default.
• W3171229713 creator A5022372136 @default.
• W3171229713 creator A5023082449 @default.
• W3171229713 creator A5025162900 @default.
• W3171229713 creator A5029299548 @default.
• W3171229713 creator A5030998265 @default.
• W3171229713 creator A5031862165 @default.
• W3171229713 creator A5033335450 @default.
• W3171229713 creator A5041832440 @default.
• W3171229713 creator A5044699009 @default.
• W3171229713 creator A5046051820 @default.
• W3171229713 creator A5048475328 @default.
• W3171229713 creator A5050071654 @default.
• W3171229713 creator A5050847001 @default.
• W3171229713 creator A5053813248 @default.
• W3171229713 creator A5054996777 @default.
• W3171229713 creator A5055554379 @default.
• W3171229713 creator A5061202444 @default.
• W3171229713 creator A5061360903 @default.
• W3171229713 creator A5072329970 @default.
• W3171229713 creator A5076037048 @default.
• W3171229713 creator A5077009027 @default.
• W3171229713 creator A5077116677 @default.
• W3171229713 creator A5078813133 @default.
• W3171229713 creator A5079257891 @default.
• W3171229713 creator A5080499234 @default.
• W3171229713 creator A5080625220 @default.
• W3171229713 creator A5082443827 @default.
• W3171229713 creator A5085975872 @default.
• W3171229713 creator A5086910696 @default.
• W3171229713 creator A5090300363 @default.
• W3171229713 date "2021-06-04" @default.
• W3171229713 modified "2023-10-17" @default.
• W3171229713 title "Biallelic loss-of-function OBSCN variants predispose individuals to severe, recurrent rhabdomyolysis" @default.
• W3171229713 cites W1521859206 @default.
• W3171229713 cites W1830007828 @default.
• W3171229713 cites W1971161141 @default.
• W3171229713 cites W1982268478 @default.
• W3171229713 cites W1990360491 @default.
• W3171229713 cites W1991168797 @default.
• W3171229713 cites W1997402367 @default.
• W3171229713 cites W2007482131 @default.
• W3171229713 cites W2016989884 @default.
• W3171229713 cites W2041663954 @default.
• W3171229713 cites W2052155884 @default.
• W3171229713 cites W2063926829 @default.
• W3171229713 cites W2066541341 @default.
• W3171229713 cites W2075841038 @default.
• W3171229713 cites W2088481987 @default.
• W3171229713 cites W2090352597 @default.
• W3171229713 cites W2096707568 @default.
• W3171229713 cites W2099388247 @default.
• W3171229713 cites W2104322455 @default.
• W3171229713 cites W2104627343 @default.
• W3171229713 cites W2111975407 @default.
• W3171229713 cites W2129372533 @default.
• W3171229713 cites W2130262043 @default.
• W3171229713 cites W2138170368 @default.
• W3171229713 cites W2152515122 @default.
• W3171229713 cites W2167842354 @default.
• W3171229713 cites W2174490601 @default.
• W3171229713 cites W2385803741 @default.
• W3171229713 cites W2541494029 @default.
• W3171229713 cites W2544243043 @default.
• W3171229713 cites W2554708671 @default.
• W3171229713 cites W2780313299 @default.
• W3171229713 cites W2793685690 @default.
• W3171229713 cites W2795556301 @default.
• W3171229713 cites W2885240581 @default.
• W3171229713 cites W2887612627 @default.
• W3171229713 cites W2901349131 @default.
• W3171229713 cites W2903551950 @default.
• W3171229713 cites W2910789246 @default.
• W3171229713 cites W2915848125 @default.
• W3171229713 cites W2944222179 @default.
• W3171229713 cites W3006005147 @default.
• W3171229713 cites W3012105397 @default.
• W3171229713 cites W3027352170 @default.
• W3171229713 cites W3038774644 @default.
• W3171229713 cites W3041498715 @default.
• W3171229713 cites W3087837216 @default.
• W3171229713 cites W3134064744 @default.
• W3171229713 cites W3135987068 @default.
• W3171229713 cites W3136467619 @default.
• W3171229713 cites W602247445 @default.
• W3171229713 doi "https://doi.org/10.1101/2021.06.04.447044" @default.
• W3171229713 hasPublicationYear "2021" @default.
• W3171229713 type Work @default.
• W3171229713 sameAs 3171229713 @default.
• W3171229713 citedByCount "0" @default.
• W3171229713 crossrefType "posted-content" @default.
• W3171229713 hasAuthorship W3171229713A5000871892 @default.
• W3171229713 hasAuthorship W3171229713A5011174794 @default.
• W3171229713 hasAuthorship W3171229713A5011213147 @default.
• W3171229713 hasAuthorship W3171229713A5016823690 @default.

• next