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RBM20 mutations in left ventricular non-compaction cardiomyopathy 被引量:1
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作者 Anna Gaertner Barbel Klauke +1 位作者 Andreas Brodehl Hendrik Milting 《Pediatric Investigation》 CSCD 2020年第1期61-63,共3页
Cardiomyopathies are among the most prevalent causes of premature death in the Western world.A significant amount of cardiomyopathies has a genetic etiology.Currently,mutations in more than 170 genes associated with d... Cardiomyopathies are among the most prevalent causes of premature death in the Western world.A significant amount of cardiomyopathies has a genetic etiology.Currently,mutations in more than 170 genes associated with different cardiomyopathies,channelopathies,or syndromes with cardiac involvement are described. 展开更多
关键词 INVOLVEMENT VENTRICULAR CARDIOMYOPATHY
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Screening for mutations in human cardiomyopathy- is RBM24 a new but rare disease gene?
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作者 Anna Gaertner Andreas Brodehl Hendrik Milting 《Protein & Cell》 SCIE CAS CSCD 2019年第6期393-394,共2页
With great interest we have read the study of Liu et al.(2018) revealing the role of RNA binding protein 24 (RBM24) on global alternative splicing and dilated cardiomyopathy (DCM) in mice. As suggested previously, def... With great interest we have read the study of Liu et al.(2018) revealing the role of RNA binding protein 24 (RBM24) on global alternative splicing and dilated cardiomyopathy (DCM) in mice. As suggested previously, deficiency of Rbm24 causes embryonic lethality limiting the functional analyses (Yang et al., 2014). To circumvent this limitation the authors generated cardiac specific Rbm24 deficient mice and showed that homozygous deletion of Rbm24 at postnatal stage leads to rapidly progressive DCM and heart failure (Liu et al., 2018). 展开更多
关键词 great INTEREST study of LIU functional analyses
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