Familial Partial Lipodystrophy Phenotype Resulting from a Single-Base Mutation in Deoxyribonucleic Acid-Binding Domain of Peroxisome Proliferator-Activated Receptor-γ | Zendy

Houshang Monajemi | Zendy; Lin Zhang | Zendy; Gang Li | Zendy; Ellen H. Jeninga | Zendy; Henian Cao | Zendy; Mario Maas | Zendy; Catherine B. Brouwer | Zendy; Eric Kalkhoven | Zendy; Erik S.G. Stroes | Zendy; Robert A. Hegele | Zendy; Todd Leff | Zendy

Open Access

Familial Partial Lipodystrophy Phenotype Resulting from a Single-Base Mutation in Deoxyribonucleic Acid-Binding Domain of Peroxisome Proliferator-Activated Receptor-γ

Author(s) -

Houshang Monajemi,

Lin Zhang,

Gang Li,

Ellen H. Jeninga,

Henian Cao,

Mario Maas,

Catherine B. Brouwer,

Eric Kalkhoven,

Erik S.G. Stroes,

Robert A. Hegele,

Todd Leff

Publication year - 2007

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2006-1807

Subject(s) - peroxisome proliferator activated receptor gamma , lmna , biology , genetics , mutation , lipodystrophy , peroxisome proliferator activated receptor , phenotype , endocrinology , receptor , gene , virus , antiretroviral therapy , viral load

Familial partial lipodystrophy (FPLD) results from coding sequence mutations either in LMNA, encoding nuclear lamin A/C, or in PPARG, encoding peroxisome proliferator-activated receptor-gamma (PPARgamma). The LMNA form is called FPLD2 (MIM 151660) and the PPARG form is called FPLD3 (MIM 604367).

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