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5. New PPARG mutation leads to lipodystrophy and loss of protein function that is partially restored by a synthetic ligand. Lüdtke A; Buettner J; Schmidt HH; Worman HJ J Med Genet; 2007 Sep; 44(9):e88. PubMed ID: 17766367 [TBL] [Abstract][Full Text] [Related]
6. Case Report: A New Peroxisome Proliferator-Activated Receptor Gamma Mutation Causes Familial Partial Lipodystrophy Type 3 in a Chinese Patient. Chen X; Ma Z; Chen P; Song X; Li W; Yu X; Xie J Front Endocrinol (Lausanne); 2022; 13():830708. PubMed ID: 35422762 [TBL] [Abstract][Full Text] [Related]
7. The novel loss of function Ile354Val mutation in PPARG causes familial partial lipodystrophy. Padova G; Prudente S; Vinciguerra F; Sudano D; Baratta R; Bellacchio E; Trischitta V; Vallone A; Sciacca L; Frittitta L Acta Diabetol; 2020 May; 57(5):589-596. PubMed ID: 31863320 [TBL] [Abstract][Full Text] [Related]
8. Impaired peroxisome proliferator-activated receptor gamma function through mutation of a conserved salt bridge (R425C) in familial partial lipodystrophy. Jeninga EH; van Beekum O; van Dijk AD; Hamers N; Hendriks-Stegeman BI; Bonvin AM; Berger R; Kalkhoven E Mol Endocrinol; 2007 May; 21(5):1049-65. PubMed ID: 17312272 [TBL] [Abstract][Full Text] [Related]
9. Lessons from human mutations in PPARgamma. Hegele RA Int J Obes (Lond); 2005 Mar; 29 Suppl 1():S31-5. PubMed ID: 15711581 [TBL] [Abstract][Full Text] [Related]
11. Natural helix 9 mutants of PPARγ differently affect its transcriptional activity. Broekema MF; Massink MPG; Donato C; de Ligt J; Schaarschmidt J; Borgman A; Schooneman MG; Melchers D; Gerding MN; Houtman R; Bonvin AMJJ; Majithia AR; Monajemi H; van Haaften GW; Soeters MR; Kalkhoven E Mol Metab; 2019 Feb; 20():115-127. PubMed ID: 30595551 [TBL] [Abstract][Full Text] [Related]
12. Vascular placental abnormalities and newborn death in a pregnant diabetic woman with familial partial lipodystrophy type 3: a possible role for peroxisome proliferator-activated receptor γ. Castell AL; Hiéronimus S; Lascols O; Fournier T; Fénichel P Diabetes Metab; 2012 Oct; 38(4):367-9. PubMed ID: 22559930 [TBL] [Abstract][Full Text] [Related]
13. Gene-gene and gene-environment interactions in lipodystrophy: Lessons learned from natural PPARγ mutants. Broekema MF; Savage DB; Monajemi H; Kalkhoven E Biochim Biophys Acta Mol Cell Biol Lipids; 2019 May; 1864(5):715-732. PubMed ID: 30742913 [TBL] [Abstract][Full Text] [Related]
14. Novel peroxisome proliferator-activated receptor gamma mutation in a family with familial partial lipodystrophy type 3. Miehle K; Porrmann J; Mitter D; Stumvoll M; Glaser C; Fasshauer M; Hoffmann K Clin Endocrinol (Oxf); 2016 Jan; 84(1):141-8. PubMed ID: 26119484 [TBL] [Abstract][Full Text] [Related]
15. A single-base mutation in the peroxisome proliferator-activated receptor gamma4 promoter associated with altered in vitro expression and partial lipodystrophy. Al-Shali K; Cao H; Knoers N; Hermus AR; Tack CJ; Hegele RA J Clin Endocrinol Metab; 2004 Nov; 89(11):5655-60. PubMed ID: 15531525 [TBL] [Abstract][Full Text] [Related]
16. Structural basis of the transactivation deficiency of the human PPARγ F360L mutant associated with familial partial lipodystrophy. Lori C; Pasquo A; Montanari R; Capelli D; Consalvi V; Chiaraluce R; Cervoni L; Loiodice F; Laghezza A; Aschi M; Giorgi A; Pochetti G Acta Crystallogr D Biol Crystallogr; 2014 Jul; 70(Pt 7):1965-76. PubMed ID: 25004973 [TBL] [Abstract][Full Text] [Related]
17. Inguinal Fat Compensates Whole Body Metabolic Functionality in Partially Lipodystrophic Mice with Reduced PPARγ Expression. Chang CS; Yu SS; Ho LC; Chao SH; Chou TY; Shao AN; Kao LZ; Chang CY; Chen YH; Wu MS; Tsai PJ; Maeda N; Tsai YS Int J Mol Sci; 2023 Feb; 24(4):. PubMed ID: 36835312 [TBL] [Abstract][Full Text] [Related]
18. A frameshift mutation in peroxisome-proliferator-activated receptor-gamma in familial partial lipodystrophy subtype 3 (FPLD3; MIM 604367). Hegele RA; Ur E; Ransom TP; Cao H Clin Genet; 2006 Oct; 70(4):360-2. PubMed ID: 16965332 [No Abstract] [Full Text] [Related]
20. Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3). Francis GA; Li G; Casey R; Wang J; Cao H; Leff T; Hegele RA BMC Med Genet; 2006 Jan; 7():3. PubMed ID: 16412238 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]