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2. 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]
3. Familial partial lipodystrophy phenotype resulting from a single-base mutation in deoxyribonucleic acid-binding domain of peroxisome proliferator-activated receptor-gamma. Monajemi H; Zhang L; Li G; Jeninga EH; Cao H; Maas M; Brouwer CB; Kalkhoven E; Stroes E; Hegele RA; Leff T J Clin Endocrinol Metab; 2007 May; 92(5):1606-12. PubMed ID: 17299075 [TBL] [Abstract][Full Text] [Related]
4. 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]
5. Peroxisome proliferator-activated receptor-γ mutations responsible for lipodystrophy with severe hypertension activate the cellular renin-angiotensin system. Auclair M; Vigouroux C; Boccara F; Capel E; Vigeral C; Guerci B; Lascols O; Capeau J; Caron-Debarle M Arterioscler Thromb Vasc Biol; 2013 Apr; 33(4):829-38. PubMed ID: 23393388 [TBL] [Abstract][Full Text] [Related]
6. 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 DB; Temeloglu E; Uzum AK; Kadioglu P; Altay C; Ozen S; Demir L; Cavdar U; Akinci B Diabet Med; 2016 Oct; 33(10):1445-50. PubMed ID: 26756202 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
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. 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]
12. Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy. Akinci B; Onay H; Demir T; Savas-Erdeve Ş; Gen R; Simsir IY; Keskin FE; Erturk MS; Uzum AK; Yaylali GF; Ozdemir NK; Atik T; Ozen S; Yurekli BS; Apaydin T; Altay C; Akinci G; Demir L; Comlekci A; Secil M; Oral EA Metabolism; 2017 Jul; 72():109-119. PubMed ID: 28641778 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. Circulating exosomal circRNA-miRNA-mRNA network in a familial partial lipodystrophy type 3 family with a novel Zhou L; Li S; Ren J; Wang D; Yu R; Zhao Y; Zhang Q; Xiao X Am J Physiol Endocrinol Metab; 2024 Sep; 327(3):E357-E370. PubMed ID: 39017680 [TBL] [Abstract][Full Text] [Related]
15. A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy. Agarwal AK; Garg A J Clin Endocrinol Metab; 2002 Jan; 87(1):408-11. PubMed ID: 11788685 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. Familial partial lipodystrophy resulting from loss-of-function PPARγ pathogenic variants: phenotypic, clinical, and genetic features. Soares RMV; da Silva MA; Campos JTAM; Lima JG Front Endocrinol (Lausanne); 2024; 15():1394102. PubMed ID: 39398333 [TBL] [Abstract][Full Text] [Related]
18. PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy. Hegele RA; Cao H; Frankowski C; Mathews ST; Leff T Diabetes; 2002 Dec; 51(12):3586-90. PubMed ID: 12453919 [TBL] [Abstract][Full Text] [Related]
19. Altered promoter recycling rates contribute to dominant-negative activity of human peroxisome proliferator-activated receptor-gamma mutations associated with diabetes. Li G; Leff T Mol Endocrinol; 2007 Apr; 21(4):857-64. PubMed ID: 17227883 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]