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
  • [31] Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene
    D. B. Savage
    I. McFarlane
    I. Barroso
    M. A. Soos
    A. Powlson
    E. L. Thomas
    J. D. Bell
    I. Scobie
    P. E. Belchetz
    W. F. Kelly
    D. J. Halsall
    A. J. Schafer
    S. O’Rahilly
    Diabetologia, 2004, 47 : 753 - 756
  • [32] ADIPOCYTE DYSFUNCTION IN AN IPSC MODEL OF FAMILIAL PARTIAL LIPODYSTROPHY DUE TO MUTATIONS IN LMNA
    Alvarez, Aluet Borrego
    Liu, Katie
    Gobble, McKinlee
    Grupe, Michael
    Buchser, William
    Baldridge, Dustin
    Stone, Stephen
    HORMONE RESEARCH IN PAEDIATRICS, 2024, 97 : 154 - 155
  • [33] Phenotypic Differences Among Familial Partial Lipodystrophy Due to LMNA or PPARG Variants
    Vasandani, Chandna
    Li, Xilong
    Sekizkardes, Hilal
    Brown, Rebecca J.
    Garg, Abhimanyu
    JOURNAL OF THE ENDOCRINE SOCIETY, 2022, 6 (12)
  • [34] Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy
    Vantyghem, M. C.
    Vincent-Desplanques, D.
    Defrance-Faivre, F.
    Capeau, J.
    Fermon, C.
    Valat, A. S.
    Lascols, O.
    Hecart, A. C.
    Pigny, P.
    Delemer, B.
    Vigouroux, C.
    Wemeau, J. L.
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2008, 93 (06): : 2223 - 2229
  • [35] Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene
    Savage, DB
    Soos, MA
    Powlson, A
    O'Rahilly, S
    McFarlane, I
    Halsall, DJ
    Barroso, I
    Thomas, EL
    Bell, JD
    Scobie, I
    Belchetz, PE
    Kelly, WF
    Schafer, AJ
    DIABETOLOGIA, 2004, 47 (04) : 753 - 756
  • [36] Familial partial lipodystrophy (Dunnigan syndrome) due to LMNA gene mutation: The first description of its clinical case in Russia
    Sorkina, E. L.
    Kalashnikova, M. F.
    Melnichenko, G. A.
    Tyulpakov, A. N.
    TERAPEVTICHESKII ARKHIV, 2015, 87 (03) : 83 - 87
  • [37] A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features
    Saha, B.
    Lessel, D.
    Hisama, F. M.
    Leistritz, D. F.
    Friedrich, K.
    Martin, G. M.
    Kubisch, C.
    Oshima, J.
    MOLECULAR SYNDROMOLOGY, 2010, 1 (03) : 127 - 132
  • [38] Familial partial lipodystrophy linked to a novel peroxisome proliferator activator receptor -γ (PPARG) mutation, H449L: a comparison of people with this mutation and those with classic codon 482 Lamin A/C (LMNA) mutations
    Demir, T.
    Onay, H.
    Savage, D. B.
    Temeloglu, E.
    Uzum, A. K.
    Kadioglu, P.
    Altay, C.
    Ozen, S.
    Demir, L.
    Cavdar, U.
    Akinci, B.
    DIABETIC MEDICINE, 2016, 33 (10) : 1445 - 1450
  • [39] Partial Lipodystrophy and LMNA p.R545H Variant
    Magno, Silvia
    Ceccarini, Giovanni
    Barison, Andrea
    Fabiani, Iacopo
    Giacomina, Alessandro
    Gilio, Donatella
    Pelosini, Caterina
    Rubegni, Anna
    Emdin, Michele
    Gatti, Gian Luca
    Santorelli, Filippo Maria
    Sessa, Maria Rita
    Santini, Ferruccio
    JOURNAL OF CLINICAL MEDICINE, 2021, 10 (05) : 1 - 12
  • [40] LMNA missense mutations causing familial partial lipodystrophy do not lead to an accumulation of prelamin A
    Tu, Yiping
    Sanchez-Iglesias, Sofia
    Araujo-Vilar, David
    Fong, Loren G.
    Young, Stephen G.
    NUCLEUS, 2016, 7 (05) : 512 - 521
12345