Literature DB >> 25189259

A novel de novo mutation of β-cardiac myosin heavy chain gene found in a twelve-year-old boy with hypertrophic cardiomyopathy.

Seigo Okada1, Yasuo Suzuki, Takuro Arimura, Akinori Kimura, Hiroko Narumi, Shunji Hasegawa.   

Abstract

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Year:  2014        PMID： 25189259     DOI： 10.1007/s12041-014-0414-8

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  20 in total

Review 1.  Primary prevention of sudden death as a novel treatment strategy in hypertrophic cardiomyopathy.

Authors:  Barry J Maron; N A Mark Estes; Martin S Maron; Adrian K Almquist; Mark S Link; James E Udelson
Journal:  Circulation       Date:  2003-06-17       Impact factor: 29.690

2.  Long-term outcome of 4 Korean families with hypertrophic cardiomyopathy caused by 4 different mutations.

Authors:  Jin-Oh Choi; Cheol-Woong Yu; Jong Chun Nah; Jeong Rang Park; Bok-Soo Lee; Yu Jeong Choi; Byung-Ryul Cho; Sang-Chol Lee; Seung Woo Park; Akinori Kimura; Jeong Euy Park
Journal:  Clin Cardiol       Date:  2010-07       Impact factor: 2.882

Review 3.  A contemporary approach to hypertrophic cardiomyopathy.

Authors:  Carolyn Y Ho; Christine E Seidman
Journal:  Circulation       Date:  2006-06-20       Impact factor: 29.690

Review 4.  The failing heart.

Authors:  J A Towbin; N E Bowles
Journal:  Nature       Date:  2002-01-10       Impact factor: 49.962

5.  Sarcomeric genotyping in hypertrophic cardiomyopathy.

Authors:  Sara L Van Driest; Steve R Ommen; A Jamil Tajik; Bernard J Gersh; Michael J Ackerman
Journal:  Mayo Clin Proc       Date:  2005-04       Impact factor: 7.616

Review 6.  Cardiomyopathies: from genetics to the prospect of treatment.

Authors:  W M Franz; O J Müller; H A Katus
Journal:  Lancet       Date:  2001-11-10       Impact factor: 79.321

7.  Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.

Authors:  H Watkins; A Rosenzweig; D S Hwang; T Levi; W McKenna; C E Seidman; J G Seidman
Journal:  N Engl J Med       Date:  1992-04-23       Impact factor: 91.245

Review 8.  Molecular genetics of hypertrophic cardiomyopathy.

Authors:  J A Towbin
Journal:  Curr Cardiol Rep       Date:  2000-03       Impact factor: 2.931

Review 9.  Molecular basis of hereditary cardiomyopathy: abnormalities in calcium sensitivity, stretch response, stress response and beyond.

Authors:  Akinori Kimura
Journal:  J Hum Genet       Date:  2010-01-15       Impact factor: 3.172

10.  Evidence that pharmacological strategies lack efficacy for the prevention of sudden death in hypertrophic cardiomyopathy.

Authors:  P Melacini; B J Maron; F Bobbo; C Basso; B Tokajuk; M Zucchetto; G Thiene; S Iliceto
Journal:  Heart       Date:  2007-06       Impact factor: 5.994
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  3 in total

Review 1.  Molecular genetics and pathogenesis of cardiomyopathy.

Authors:  Akinori Kimura
Journal:  J Hum Genet       Date:  2015-07-16       Impact factor: 3.172

2.  Long genes and genes with multiple splice variants are enriched in pathways linked to cancer and other multigenic diseases.

Authors:  Aleksandr B Sahakyan; Shankar Balasubramanian
Journal:  BMC Genomics       Date:  2016-03-12       Impact factor: 3.969

3.  Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes.

Authors:  Maria Franaszczyk; Grazyna Truszkowska; Przemyslaw Chmielewski; Malgorzata Rydzanicz; Joanna Kosinska; Tomasz Rywik; Anna Biernacka; Mateusz Spiewak; Grazyna Kostrzewa; Malgorzata Stepien-Wojno; Piotr Stawinski; Maria Bilinska; Pawel Krajewski; Tomasz Zielinski; Anna Lutynska; Zofia T Bilinska; Rafal Ploski
Journal:  J Clin Med       Date:  2020-01-29       Impact factor: 4.241
  3 in total

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