Literature DB >> 11180602

A R644C mutation within lamin A extends the mutations causing dilated cardiomyopathy.

J Genschel1, B Bochow, S Kuepferling, R Ewert, R Hetzer, H Lochs, H Schmidt.   

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Year:  2001        PMID： 11180602     DOI： 10.1002/1098-1004(200102)17:2<154::AID-HUMU11>3.0.CO;2-R

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  9 in total

1.  Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants.

Authors:  Florence H J van Tienen; Patrick J Lindsey; Miriam A F Kamps; Ingrid P Krapels; Frans C S Ramaekers; Han G Brunner; Arthur van den Wijngaard; Jos L V Broers
Journal:  Eur J Hum Genet       Date:  2018-11-12       Impact factor: 4.246

2.  Identification of a new lamin A/C mutation in a Chinese family affected with atrioventricular block as the prominent phenotype.

Authors:  Xiaoyan Wu; Qing K Wang; Le Gui; Mugen Liu; Xianqin Zhang; Runming Jin; Wei Li; Lu Yan; Rong Du; Qiufen Wang; Jianfang Zhu; Junguo Yang
Journal:  J Huazhong Univ Sci Technolog Med Sci       Date:  2010-02-14

3.  Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?

Authors:  Jop H van Berlo; Willem G de Voogt; Anneke J van der Kooi; J Peter van Tintelen; Gisèle Bonne; Rabah Ben Yaou; Denis Duboc; Tom Rossenbacker; Hein Heidbüchel; Marianne de Visser; Harry J G M Crijns; Yigal M Pinto
Journal:  J Mol Med (Berl)       Date:  2004-11-13       Impact factor: 4.599

4.  Prelamin A and lamin A appear to be dispensable in the nuclear lamina.

Authors:  Loren G Fong; Jennifer K Ng; Jan Lammerding; Timothy A Vickers; Margarita Meta; Nathan Coté; Bryant Gavino; Xin Qiao; Sandy Y Chang; Stephanie R Young; Shao H Yang; Colin L Stewart; Richard T Lee; C Frank Bennett; Martin O Bergo; Stephen G Young
Journal:  J Clin Invest       Date:  2006-03       Impact factor: 14.808

5.  Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.

Authors:  P Sébillon; C Bouchier; L D Bidot; G Bonne; K Ahamed; P Charron; V Drouin-Garraud; A Millaire; G Desrumeaux; A Benaïche; J-C Charniot; K Schwartz; E Villard; M Komajda
Journal:  J Med Genet       Date:  2003-08       Impact factor: 6.318

6.  LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset.

Authors:  Megan S Kane; Mark E Lindsay; Daniel P Judge; Jemima Barrowman; Colette Ap Rhys; Lisa Simonson; Harry C Dietz; Susan Michaelis
Journal:  Am J Med Genet A       Date:  2013-05-10       Impact factor: 2.802

7.  Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies.

Authors:  F Kortüm; M Chyrek; S Fuchs; B Albrecht; G Gillessen-Kaesbach; U Mütze; E Seemanova; S Tinschert; D Wieczorek; G Rosenberger; K Kutsche
Journal:  Mol Syndromol       Date:  2011-11-12

8.  Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.

Authors:  Laurence M Nunn; Luis R Lopes; Petros Syrris; Cian Murphy; Vincent Plagnol; Eileen Firman; Chrysoula Dalageorgou; Esther Zorio; Diana Domingo; Victoria Murday; Iain Findlay; Alexis Duncan; Gerry Carr-White; Leema Robert; Teofila Bueser; Caroline Langman; Simon P Fynn; Martin Goddard; Anne White; Henning Bundgaard; Laura Ferrero-Miliani; Nigel Wheeldon; Simon K Suvarna; Aliceson O'Beirne; Martin D Lowe; William J McKenna; Perry M Elliott; Pier D Lambiase
Journal:  Europace       Date:  2015-10-25       Impact factor: 5.214

9.  Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24.

Authors:  Jemima Barrowman; Corinne Hamblet; Megan S Kane; Susan Michaelis
Journal:  PLoS One       Date:  2012-02-15       Impact factor: 3.240
  9 in total

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