R482W mutation with LMNA causer familial partial lipodystrophy

被引：0
|
作者：
Genschel, J [1 ]
Baier, P [1 ]
Buettner, CA [1 ]
Schmidt, M [1 ]
Ockenga, J [1 ]
Tietge, UJ [1 ]
Manns, MP [1 ]
Lochs, H [1 ]
Brabant, G [1 ]
Schmidt, HH [1 ]
机构：
[1] Med Hsch Hannover, Hannover, Germany
来源：
GASTROENTEROLOGY | 2001年 / 120卷 / 05期
关键词：
D O I：
暂无
中图分类号：
R57 [消化系及腹部疾病];
学科分类号：
摘要：
1581
引用
收藏
页码：A306 / A306
页数：1
相关论文
共 50 条
  • [21] Lipodystrophy-Linked LMNA p.R482W Mutation Induces Clinical Early Atherosclerosis and In Vitro Endothelial Dysfunction
    Bidault, Guillaume
    Garcia, Marie
    Vantyghem, Marie-Christine
    Ducluzeau, Pierre-Henri
    Morichon, Romain
    Thiyagarajah, Kayathri
    Moritz, Sylviane
    Capeau, Jacqueline
    Vigouroux, Corinne
    Bereziat, Veronique
    ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 2013, 33 (09) : 2162 - 2171
  • [22] Familial partial lipodystrophy with gene mutation in both LMNA and PPARG: report of a case and review of literature
    Zhou, Guiming
    Wang, Yang
    Xu, Mei
    INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY, 2016, 9 (12): : 13027 - 13031
  • [23] The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation
    Wojtanik, Kari M.
    Edgemon, Keith
    Viswanadha, Srikant
    Lindsey, Brigette
    Haluzik, Martin
    Chen, Weiping
    Poy, George
    Reitman, Marc
    Londos, Constantine
    JOURNAL OF LIPID RESEARCH, 2009, 50 (06) : 1068 - 1079
  • [24] Myopathy in patients with familial partial lipodystrophy due to LMNA mutations
    Spuler, S
    Kalbhenn, T
    Schmidt, HJ
    NEUROMUSCULAR DISORDERS, 2004, 14 (8-9) : 591 - 591
  • [25] Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
    Cao, H
    Hegele, RA
    HUMAN MOLECULAR GENETICS, 2000, 9 (01) : 109 - 112
  • [26] Unusual Cases of Diabetes Mellitus As a Result of Heterozygous Missense Mutation R482W in Lmna Gene in 2 Unrelated Families, Described for the First Time in Russian Population
    Sorkina, Ekaterina
    Tiulpakov, Anatoly
    Kalashnikova, Marina
    Melnichenko, Galina A.
    Pronin, Vyacheslav
    ENDOCRINE REVIEWS, 2014, 35 (03)
  • [27] The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy
    Muschke, Petra
    Koelsch, Uwe
    Jakubiczka, Sibylle
    Wieland, Ilse
    Brune, Thomas
    Wieacker, Peter
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (23) : 2810 - 2814
  • [28] In silico investigation of molecular mechanism of laminopathy caused by a point mutation (R482W) in lamin A/C protein
    Vidya Rajendran
    Rituraj Purohit
    Rao Sethumadhavan
    Amino Acids, 2012, 43 : 603 - 615
  • [29] In silico investigation of molecular mechanism of laminopathy caused by a point mutation (R482W) in lamin A/C protein
    Rajendran, Vidya
    Purohit, Rituraj
    Sethumadhavan, Rao
    AMINO ACIDS, 2012, 43 (02) : 603 - 615
  • [30] A LMNA splicing mutation in two sisters with severe dunnigan-type familial partial lipodystrophy type 2
    Morel, Chantal F.
    Thomas, Mary Ann
    Cao, Henian
    O'Neil, Caroline H.
    Pickering, J. Geoffrey
    Foulkes, William D.
    Hegele, Robert A.
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2006, 91 (07): : 2689 - 2695
12345