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Scholar Results 1 - 10 of about 101 related to Savage: Human metabolic syndrome resulting from dominant-negative mutations in the nuclear.... (0.10 sec) 

Human metabolic syndrome resulting from dominant-negative mutations in the …

- diabetesjournals.org
DB Savage, GD Tan, CL Acerini, SA Jebb, M Agostini, … - Diabetes, 2003 - Am Diabetes Assoc
We previously reported a syndrome of severe hyperinsulinemia and early-onset hypertension
in three patients with dominant-negative mutations in the nuclear hormone receptor peroxisome
proliferator-activated receptor (PPAR)-γ. We now report the results of further detailed ...
Cited by 212 - Related articles - BL Direct - All 6 versions

PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy


RA Hegele, H Cao, C Frankowski, ST Mathews, T Leff - Diabetes, 2002 - Am Diabetes Assoc
Autosomal dominant familial partial lipodystrophy (FPLD) due to mutant LMNA encoding nuclear
lamin A/C is characterized by adipose tissue repartitioning together with multiple metabolic
disturbances, including insulin resistance and dyslipidemia. There is emerging evidence ...
Cited by 158 - Related articles - BL Direct - All 6 versions

A novel heterozygous mutation in peroxisome proliferator-activated receptor-{ …


AK Agarwal, A Garg - Journal of Clinical Endocrinology & Metabolism, 2002 - Endocrine Soc
Familial partial lipodystrophies (FPL) are a heterogeneous group of genetic disorders characterized
by marked loss of subcutaneous (sc) fat from the extremities. Affected individuals show an increased
preponderance of insulin resistance, diabetes mellitus and dyslipidemia. Recently, lamin ...
Cited by 167 - Related articles - All 4 versions

Tyrosine agonists reverse the molecular defects associated with dominant- …

- endojournals.org
M Agostini, M Gurnell, DB Savage, EM Wood, AG Smith … - Endocrinology, 2004 - Endocrine Soc
Loss-of-function mutations in the ligand-binding domain of human peroxisome proliferator-activated
receptor (PPAR ) are associated with a novel syndrome characterized by partial lipodystrophy
and severe insulin resistance. Here we have further characterized the properties of ...
Cited by 54 - Related articles - BL Direct - All 4 versions

Hypertension and abnormal fat distribution but not insulin resistance in mice with …

- nih.gov
YS Tsai, HJ Kim, N Takahashi, HS Kim, JR … - Journal of Clinical …, 2004 - Am Soc Clin Investig
Peroxisome proliferator–activated receptor γ (PPARγ), the molecular target of a class of insulin
sensitizers, regulates adipocyte differentiation and lipid metabolism. A dominant negative P467L
mutation in the ligand-binding domain of PPARγ in humans is associated with severe ...
Cited by 81 - Related articles - BL Direct - All 10 versions

Muscle-specific PPARγ-deficient mice develop increased adiposity and insulin …

- nih.gov
AW Norris, L Chen, SJ Fisher, I Szanto, M … - Journal of Clinical …, 2003 - Am Soc Clin Investig
Activation of peroxisome proliferator-activated receptor γ (PPARγ) by thiazolidinediones
(TZDs) improves insulin resistance by increasing insulin-stimulated glucose disposal in skeletal
muscle. It remains debatable whether the effect of TZDs on muscle is direct or indirect via ...
Cited by 209 - Related articles - BL Direct - All 6 versions

Dominant negative mutations in human PPARγ associated with severe insulin …


I Barroso, M Gurnell, VEF Crowley, M Agostini, JW … - Nature, 1999 - nature.com
Thiazolidinediones are a new class of antidiabetic agent that improve insulin sensitivity and reduce
plasma glucose and blood pressure in subjects with type 2 diabetes 1 . Although these agents
can bind and activate an orphan nuclear receptor, peroxisome proliferator-activated ...
Cited by 750 - Related articles - BL Direct - All 7 versions

Digenic inheritance of severe insulin resistance in a human pedigree


DB Savage, M Agostini, I Barroso, M Gurnell, J Luan, A … - Nature Genetics, 2002 - nature.com
Cited by 101 - Related articles - BL Direct - All 4 versions

Adipose-specific peroxisome proliferator-activated receptor γ knockout causes …

- pnas.org
W He, Y Barak, A Hevener, P Olson, D … - Proceedings of the …, 2003 - National Acad Sciences
Syndrome X, typified by obesity, insulin resistance (IR), dyslipidemia, and other metabolic
abnormalities, is responsive to antidiabetic thiazolidinediones (TZDs). Peroxisome
proliferator-activated receptor (PPAR) γ, a target of TZDs, is expressed abundantly in ...
Cited by 282 - Related articles - BL Direct - All 12 versions

[PDF] Muscle-specific Pparg deletion causes insulin resistance


AL Hevener, W He, Y Barak, J Le, G Bandyopadhyay, P … - Nature medicine, 2003 - salk.edu
1Department of Medicine, Division of Endocrinology and Metabolism, University of
California, San Diego, La Jolla, California 92093, USA. 2Department of Biology, University of
California, San Diego, La Jolla, California 92093, USA. 3Jackson Laboratory, Bar Harbor, ...
Cited by 257 - Related articles - BL Direct - All 8 versions


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