ADIPOCYTE DYSFUNCTION IN AN IPSC MODEL OF FAMILIAL PARTIAL LIPODYSTROPHY DUE TO MUTATIONS IN LMNA

被引:0
|
作者
Alvarez, Aluet Borrego [1 ]
Liu, Katie [1 ]
Gobble, McKinlee [1 ]
Grupe, Michael [1 ]
Buchser, William [1 ]
Baldridge, Dustin [1 ]
Stone, Stephen [1 ]
机构
[1] Washington Univ, Sch Med, St Louis, MO USA
来源
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
6852
引用
收藏
页码:154 / 155
页数:2
相关论文
共 50 条
  • [31] Patients with familial partial lipodystrophy of the dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities
    Vantyghem, MC
    Pigny, P
    Maurage, CA
    Rouaix-Emery, N
    Stojkovic, T
    Cuisset, JM
    Millaire, A
    Lascols, O
    Vermersch, P
    Wemeau, JL
    Capeau, J
    Vigouroux, C
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2004, 89 (11): : 5337 - 5346
  • [32] Familial partial lipodystrophy associated with heterozygous LMNA mutation Arg482Gln in a Polish family
    Drac, H.
    Madej-Pilarczyk, A.
    Gospodarczyk-Szot, K.
    Gawel, M.
    Hausmanowa-Petrusewicz, I.
    JOURNAL OF NEUROLOGY, 2009, 256 : S159 - S159
  • [33] LAMIN MUTATIONS IN FAMILIAL PARTIAL LIPODYSTROPHY POINT TO PHOSPHORYLATION AS A THERAPEUTIC TARGET
    Lin, Eric W.
    Brady, Graham
    Kwan, Raymond
    Nesvizhskii, Alexey
    Omary, M. Bishr
    GASTROENTEROLOGY, 2019, 156 (06) : S1292 - S1293
  • [34] Absence of mutations in exon 8 of the LMNA gene in combination antiretroviral therapy-associated partial lipodystrophy
    Domingo, P
    Baiget, M
    Arroyo, JA
    Seco, L
    Sambeat, MA
    Domenech, M
    Vazquez, G
    JOURNAL OF ACQUIRED IMMUNE DEFICIENCY SYNDROMES, 2002, 30 (04) : 457 - 458
  • [35] Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy
    Boguslavsky, RL
    Stewart, CL
    Worman, HJ
    HUMAN MOLECULAR GENETICS, 2006, 15 (04) : 653 - 663
  • [36] Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy
    Hegele, RA
    Cao, HN
    Anderson, CM
    Hramiak, IM
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2000, 85 (09): : 3431 - 3435
  • [37] 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
  • [38] Hypopharyngeal Squamous Cell Carcinoma in Sisters with LMNA Associated Familial Partial Lipodystrophy: A Case Report and Review of the Literature
    Youssef, Stephanie J.
    Macielak, Robert J.
    Schimmenti, Lisa A.
    Chatzopoulos, Kyriakos
    Price, Daniel L.
    ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY, 2020, 129 (12): : 1243 - 1246
  • [39] Atypical Progeroid Syndrome and Partial Lipodystrophy Due to LMNA Gene p.R349W Mutation
    Magno, Silvia
    Ceccarini, Giovanni
    Pelosini, Caterina
    Ferrari, Federica
    Prodam, Flavia
    Gilio, Donatella
    Maffei, Margherita
    Sessa, Maria Rita
    Barison, Andrea
    Ciccarone, Annamaria
    Emdin, Michele
    Aimaretti, Gianluca
    Santini, Ferruccio
    JOURNAL OF THE ENDOCRINE SOCIETY, 2020, 4 (10)
  • [40] 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