Literature DB >> 17250669

Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).

M Lanktree, H Cao, S W Rabkin, A Hanna, R A Hegele.   

Abstract

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Year:  2007        PMID： 17250669     DOI： 10.1111/j.1399-0004.2007.00740.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  8 in total

1.  A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features.

Authors:  B Saha; D Lessel; F M Hisama; D F Leistritz; K Friedrich; G M Martin; C Kubisch; J Oshima
Journal:  Mol Syndromol       Date:  2010-09-14

Review 2.  Diseases of the Nucleoskeleton.

Authors:  James M Holaska
Journal:  Compr Physiol       Date:  2016-09-15       Impact factor: 9.090

3.  LMNA missense mutations causing familial partial lipodystrophy do not lead to an accumulation of prelamin A.

Authors:  Yiping Tu; Sofía Sánchez-Iglesias; David Araújo-Vilar; Loren G Fong; Stephen G Young
Journal:  Nucleus       Date:  2016-09-02       Impact factor: 4.197

4.  Lamin A mutation impairs interaction with nucleoporin NUP155 and disrupts nucleocytoplasmic transport in atrial fibrillation.

Authors:  Meng Han; Miao Zhao; Chen Cheng; Yuan Huang; Shengna Han; Wenjuan Li; Xin Tu; Xuan Luo; Xiaoling Yu; Yinan Liu; Qiuyun Chen; Xiang Ren; Qing Kenneth Wang; Tie Ke
Journal:  Hum Mutat       Date:  2018-12-08       Impact factor: 4.878

5.  Mutation of caspase-digestion sites in keratin 18 interferes with filament reorganization, and predisposes to hepatocyte necrosis and loss of membrane integrity.

Authors:  Sujith V W Weerasinghe; Nam-On Ku; Peter J Altshuler; Raymond Kwan; M Bishr Omary
Journal:  J Cell Sci       Date:  2014-01-24       Impact factor: 5.285

6.  Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.

Authors:  Sharie B Parks; Jessica D Kushner; Deirdre Nauman; Donna Burgess; Susan Ludwigsen; Amanda Peterson; Duanxiang Li; Petra Jakobs; Michael Litt; Charles B Porter; Peter S Rahko; Ray E Hershberger
Journal:  Am Heart J       Date:  2008-03-12       Impact factor: 4.749

7.  Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.

Authors:  Jason Cowan; Duanxiang Li; Jorge Gonzalez-Quintana; Ana Morales; Ray E Hershberger
Journal:  Circ Cardiovasc Genet       Date:  2009-11-17

Review 8.  Overlapping syndromes in laminopathies: a meta-analysis of the reported literature.

Authors:  Nicola Carboni; Luisa Politano; Matteo Floris; Anna Mateddu; Elisabetta Solla; Stefania Olla; Lorenzo Maggi; Maria Antonietta Maioli; Rachele Piras; Eleonora Cocco; Giovanni Marrosu; Maria Giovanna Marrosu
Journal:  Acta Myol       Date:  2013-05
  8 in total

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