These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
23. Dunnigan-type familial partial lipodystrophy associated with the heterozygous R482W mutation in LMNA gene - case study of three women from one family. Nabrdalik K, Strózik A, Minkina-Pędras M, Jarosz-Chobot P, Młynarski W, Grzeszczak W, Gumprecht J. Endokrynol Pol; 2013; 64(4):306-11. PubMed ID: 24002959 [Abstract] [Full Text] [Related]
24. Lessons from human mutations in PPARgamma. Hegele RA. Int J Obes (Lond); 2005 Mar; 29 Suppl 1():S31-5. PubMed ID: 15711581 [Abstract] [Full Text] [Related]
27. 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 [Abstract] [Full Text] [Related]
28. LMNA R482Q mutation in partial lipodystrophy associated with reduced plasma leptin concentration. Hegele RA, Cao H, Huff MW, Anderson CM. J Clin Endocrinol Metab; 2000 Sep; 85(9):3089-93. PubMed ID: 10999791 [Abstract] [Full Text] [Related]
30. Both lamin A and lamin C mutations cause lamina instability as well as loss of internal nuclear lamin organization. Broers JL, Kuijpers HJ, Ostlund C, Worman HJ, Endert J, Ramaekers FC. Exp Cell Res; 2005 Apr 01; 304(2):582-92. PubMed ID: 15748902 [Abstract] [Full Text] [Related]
31. [Mutations of the lamin A/C gene causing familial partial lipodystrophy: significance for the development of hyperlipidemia and insulin resistant diabetes mellitus]. Genschel J, Lochs H, Schmidt HH. Z Gastroenterol; 2000 Apr 01; 38(4):341-3. PubMed ID: 10820868 [No Abstract] [Full Text] [Related]
32. Phenomics, lipodystrophy, and the metabolic syndrome. Hegele RA. Trends Cardiovasc Med; 2004 May 01; 14(4):133-7. PubMed ID: 15177263 [Abstract] [Full Text] [Related]
33. In silico investigation of molecular mechanism of laminopathy caused by a point mutation (R482W) in lamin A/C protein. Rajendran V, Purohit R, Sethumadhavan R. Amino Acids; 2012 Aug 01; 43(2):603-15. PubMed ID: 21989830 [Abstract] [Full Text] [Related]
34. Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation. Mory PB, Crispim F, Kasamatsu T, Gabbay MA, Dib SA, Moisés RS. Arq Bras Endocrinol Metabol; 2008 Nov 01; 52(8):1252-6. PubMed ID: 19169477 [Abstract] [Full Text] [Related]
35. Altered protein dynamics of disease-associated lamin A mutants. Gilchrist S, Gilbert N, Perry P, Ostlund C, Worman HJ, Bickmore WA. BMC Cell Biol; 2004 Dec 13; 5(1):46. PubMed ID: 15596010 [Abstract] [Full Text] [Related]
37. Phenotype of a patient with a de novo mutation in the hepatocyte nuclear factor 1beta/maturity-onset diabetes of the young type 5 gene. Mayer C, Böttcher Y, Kovacs P, Halbritter J, Stumvoll M. Metabolism; 2008 Mar 13; 57(3):416-20. PubMed ID: 18249217 [Abstract] [Full Text] [Related]
38. Association of leptin with insulin resistance, body composition, and lipid parameters in postmenopausal women and men in type 2 diabetes mellitus. Gulturk S, Cetin A, Erdal S. Saudi Med J; 2008 Jun 13; 29(6):813-20. PubMed ID: 18521457 [Abstract] [Full Text] [Related]
39. Effect of pathogenic mis-sense mutations in lamin A on its interaction with emerin in vivo. Holt I, Ostlund C, Stewart CL, Man Nt, Worman HJ, Morris GE. J Cell Sci; 2003 Jul 15; 116(Pt 14):3027-35. PubMed ID: 12783988 [Abstract] [Full Text] [Related]
40. Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety). Garg A. J Clin Endocrinol Metab; 2000 May 15; 85(5):1776-82. PubMed ID: 10843151 [Abstract] [Full Text] [Related] Page: [Previous] [Next] [New Search]