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    Results: 1 to 20 of 164

    1.

    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.PMID: 12453919 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    Lessons from human mutations in PPARgamma.

    Hegele RA.

    Int J Obes (Lond). 2005 Mar;29 Suppl 1:S31-5.PMID: 15711581 [PubMed - indexed for MEDLINE]Related articles

    3.

    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.PMID: 11788685 [PubMed - indexed for MEDLINE]Related articlesFree article

    4.

    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. Epub 2007 Feb 13.PMID: 17299075 [PubMed - indexed for MEDLINE]Related articlesFree article

    5.

    Peroxisome proliferator-activated receptor-gamma C190S mutation causes partial lipodystrophy.

    Lüdtke A, Buettner J, Wu W, Muchir A, Schroeter A, Zinn-Justin S, Spuler S, Schmidt HH, Worman HJ.

    J Clin Endocrinol Metab. 2007 Jun;92(6):2248-55. Epub 2007 Mar 13.PMID: 17356052 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy.

    Vigouroux C, Magré J, Vantyghem MC, Bourut C, Lascols O, Shackleton S, Lloyd DJ, Guerci B, Padova G, Valensi P, Grimaldi A, Piquemal R, Touraine P, Trembath RC, Capeau J.

    Diabetes. 2000 Nov;49(11):1958-62.PMID: 11078466 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    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.PMID: 17766367 [PubMed - indexed for MEDLINE]Related articles

    8.

    Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.

    Cao H, Hegele RA.

    Hum Mol Genet. 2000 Jan 1;9(1):109-12.PMID: 10587585 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C.

    Speckman RA, Garg A, Du F, Bennett L, Veile R, Arioglu E, Taylor SI, Lovett M, Bowcock AM.

    Am J Hum Genet. 2000 Apr;66(4):1192-8. Erratum in: Am J Hum Genet 2000 Sep;67(3):775. PMID: 10739751 [PubMed - indexed for MEDLINE]Related articlesFree article

    10.

    Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy.

    Hegele RA, Cao H, Anderson CM, Hramiak IM.

    J Clin Endocrinol Metab. 2000 Sep;85(9):3431-5.PMID: 10999845 [PubMed - indexed for MEDLINE]Related articlesFree article

    11.

    A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy.

    Araújo-Vilar D, Lado-Abeal J, Palos-Paz F, Lattanzi G, Bandín MA, Bellido D, Domínguez-Gerpe L, Calvo C, Pérez O, Ramazanova A, Martínez-Sánchez N, Victoria B, Costa-Freitas AT.

    Clin Endocrinol (Oxf). 2008 Jul;69(1):61-8. Epub 2008 Jul 1.PMID: 18031308 [PubMed - indexed for MEDLINE]Related articles

    12.

    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.PMID: 15531525 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    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. Epub 2007 Feb 20.PMID: 17312272 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    Premature atherosclerosis associated with monogenic insulin resistance.

    Hegele RA.

    Circulation. 2001 May 8;103(18):2225-9.PMID: 11342468 [PubMed - indexed for MEDLINE]Related articlesFree article

    15.

    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.PMID: 10999791 [PubMed - indexed for MEDLINE]Related articlesFree article

    16.

    Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-gamma.

    Savage DB, Tan GD, Acerini CL, Jebb SA, Agostini M, Gurnell M, Williams RL, Umpleby AM, Thomas EL, Bell JD, Dixon AK, Dunne F, Boiani R, Cinti S, Vidal-Puig A, Karpe F, Chatterjee VK, O'Rahilly S.

    Diabetes. 2003 Apr;52(4):910-7.PMID: 12663460 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    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;52(8):1252-6.PMID: 19169477 [PubMed - indexed for MEDLINE]Related articlesFree article

    18.

    Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy.

    Simha V, Agarwal AK, Oral EA, Fryns JP, Garg A.

    J Clin Endocrinol Metab. 2003 Jun;88(6):2821-4.PMID: 12788894 [PubMed - indexed for MEDLINE]Related articlesFree article

    19.

    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 14;7:3.PMID: 16412238 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    Tyrosine agonists reverse the molecular defects associated with dominant-negative mutations in human peroxisome proliferator-activated receptor gamma.

    Agostini M, Gurnell M, Savage DB, Wood EM, Smith AG, Rajanayagam O, Garnes KT, Levinson SH, Xu HE, Schwabe JW, Willson TM, O'Rahilly S, Chatterjee VK.

    Endocrinology. 2004 Apr;145(4):1527-38. Epub 2003 Dec 4.PMID: 14657011 [PubMed - indexed for MEDLINE]Related articlesFree article

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