Acquired and inherited lipodystrophies.
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[1] P. Angulo,et al. Nonalcoholic fatty liver disease. , 2002, Revista de gastroenterologia de Mexico.
[2] A. Garg,et al. Clinical Features and Metabolic and Autoimmune Derangements in Acquired Partial Lipodystrophy: Report of 35 Cases and Review of the Literature , 2004, Medicine.
[3] R. Peshock,et al. The skeleton in congenital, generalized lipodystrophy: evaluation using whole-body radiographic surveys, magnetic resonance imaging and technetium-99m bone scintigraphy , 2004, Skeletal Radiology.
[4] A. Garg,et al. Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes. , 2003, The Journal of clinical endocrinology and metabolism.
[5] S. O’Rahilly,et al. Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. , 2003, The Journal of clinical endocrinology and metabolism.
[6] A. K. Agarwal,et al. Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. , 2003, Human molecular genetics.
[7] A. K. Agarwal,et al. Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy. , 2003, The Journal of clinical endocrinology and metabolism.
[8] M. Lathrop,et al. Prevalence of mutations in AGPAT2 among human lipodystrophies. , 2003, Diabetes.
[9] A. Chait,et al. Köbberling type of familial partial lipodystrophy: an underrecognized syndrome. , 2003, Diabetes care.
[10] A. K. Agarwal,et al. Risk factors for diabetes in familial partial lipodystrophy, Dunnigan variety. , 2003, Diabetes care.
[11] Jimmy D Bell,et al. Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-gamma. , 2003, Diabetes.
[12] A. Garg,et al. Clinical Features and Metabolic Derangements in Acquired Generalized Lipodystrophy: Case Reports and Review of the Literature , 2003, Medicine.
[13] A. Cohen,et al. A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy. , 2003, The Journal of clinical endocrinology and metabolism.
[14] A. Garg,et al. Effect of leptin replacement on intrahepatic and intramyocellular lipid content in patients with generalized lipodystrophy. , 2003, Diabetes care.
[15] A. Garg,et al. Post‐mortem findings in familial partial lipodystrophy, Dunnigan variety , 2002, Diabetic medicine : a journal of the British Diabetic Association.
[16] R. Hegele,et al. PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy. , 2002, Diabetes.
[17] A. Häkkinen,et al. Increased fat accumulation in the liver in HIV-infected patients with antiretroviral therapy-associated lipodystrophy , 2002, AIDS.
[18] A. Garg,et al. Lipodystrophy in Human Immunodeficiency Virus-Infected Patients , 2002 .
[19] J. Carruthers,et al. HIV‐Associated Facial Lipoatrophy , 2002, Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.].
[20] S. O’Rahilly,et al. Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy , 2002, Journal of medical genetics.
[21] P. Reiss,et al. Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. , 2002, Neurology.
[22] G. Scarano,et al. Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. , 2002, American journal of human genetics.
[23] C. Stewart,et al. Life at the edge: the nuclear envelope and human disease , 2002, Nature Reviews Molecular Cell Biology.
[24] K. Petersen,et al. Leptin reverses insulin resistance and hepatic steatosis in patients with severe lipodystrophy. , 2002, The Journal of clinical investigation.
[25] Y. Matsuzawa,et al. Serum adiponectin and leptin levels in patients with lipodystrophies , 2002 .
[26] A. Bowcock,et al. Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene. , 2002, The American journal of medicine.
[27] Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci. , 2002, Diabetes.
[28] R. Trembath,et al. A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies. , 2002, Human molecular genetics.
[29] W. Rozenbaum,et al. Association between altered expression of adipogenic factor SREBP1 in lipoatrophic adipose tissue from HIV-1-infected patients and abnormal adipocyte differentiation and insulin resistance , 2002, The Lancet.
[30] C. Fichtenbaum,et al. Pharmacokinetic interactions between protease inhibitors and statins in HIV seronegative volunteers: ACTG Study A5047 , 2002, AIDS.
[31] M. Reitman,et al. Leptin-replacement therapy for lipodystrophy. , 2002, The New England journal of medicine.
[32] M. Schambelan,et al. Effects of recombinant human growth hormone on hepatic lipid and carbohydrate metabolism in HIV-infected patients with fat accumulation. , 2002, The Journal of clinical endocrinology and metabolism.
[33] R. Greenblatt,et al. Effectiveness of highly active antiretroviral therapy among HIV-1 infected women , 2002, Journal of epidemiology and community health.
[34] A. Garg,et al. Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia. , 2002, The Journal of clinical endocrinology and metabolism.
[35] C. Lelliott,et al. Lamin expression in human adipose cells in relation to anatomical site and differentiation state. , 2002, The Journal of clinical endocrinology and metabolism.
[36] A. Garg,et al. A Novel Heterozygous Mutation in Peroxisome Proliferator-Activated Receptor-γ Gene in a Patient with Familial Partial Lipodystrophy , 2002 .
[37] Simeon I. Taylor,et al. Intensive, long-term plasma exchange therapy for severe hypertriglyceridemia in acquired generalized lipoatrophy. , 2002, The Journal of clinical endocrinology and metabolism.
[38] A. Bowcock,et al. AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34 , 2002, Nature Genetics.
[39] C. Vigouroux,et al. Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene. , 2001, Journal of cell science.
[40] Jie Chen,et al. Phosphatidic Acid-Mediated Mitogenic Activation of mTOR Signaling , 2001, Science.
[41] S. Mallal,et al. HIV protease inhibitor substitution in patients with lipodystrophy: a randomized, controlled, open-label, multicentre study , 2001, AIDS.
[42] Marco Zoli,et al. Metformin in non-alcoholic steatohepatitis , 2001, The Lancet.
[43] J. Papp,et al. Identification of the gene altered in Berardinelli–Seip congenital lipodystrophy on chromosome 11q13 , 2001, Nature Genetics.
[44] D. Leung. The structure and functions of human lysophosphatidic acid acyltransferases. , 2001, Frontiers in bioscience : a journal and virtual library.
[45] R. Gilroy,et al. LIPOATROPHIC DIABETES AND END-STAGE LIVER DISEASE SECONDARY TO NONALCOHOLIC STEATOHEPATITIS WITH RECURRENCE AFTER LIVER TRANSPLANTATION , 2001, Transplantation.
[46] R. Petty,et al. Lipodystrophy in patients with juvenile dermatomyositis--evaluation of clinical and metabolic abnormalities. , 2001, The Journal of rheumatology.
[47] A. Bowcock,et al. Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene. , 2001, The Journal of clinical endocrinology and metabolism.
[48] C. Flexner,et al. Suppression of Preadipocyte Differentiation and Promotion of Adipocyte Death by HIV Protease Inhibitors* , 2000, The Journal of Biological Chemistry.
[49] R. Trembath,et al. 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. , 2000, Diabetes.
[50] J. Hoofnagle,et al. Efficacy and Safety of Troglitazone in the Treatment of Lipodystrophy Syndromes , 2000, Annals of Internal Medicine.
[51] P. Hruz,et al. The Mechanism of Insulin Resistance Caused by HIV Protease Inhibitor Therapy* , 2000, The Journal of Biological Chemistry.
[52] P. Puigserver,et al. Transcriptional regulation of adipogenesis. , 2000, Genes & development.
[53] A. Garg. Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety). , 2000 .
[54] M. Lovett,et al. 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. , 2000, American journal of human genetics.
[55] D. Cooper,et al. A syndrome of lipoatrophy, lactic acidaemia and liver dysfunction associated with HIV nucleoside analogue therapy: contribution to protease inhibitor-related lipodystrophy syndrome , 2000, AIDS.
[56] S. Gregory,et al. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy , 2000, Nature Genetics.
[57] E. Pivnick,et al. Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: report of five new cases and review. , 2000, American journal of medical genetics.
[58] R. Hegele,et al. Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. , 2000, Human molecular genetics.
[59] S. O’Rahilly,et al. Dominant negative mutations in human PPARγ associated with severe insulin resistance, diabetes mellitus and hypertension , 1999, Nature.
[60] X. Matías-Guiu,et al. Subcutaneous adipocyte apoptosis in HIV-1 protease inhibitor-associated lipodystrophy. , 1999, AIDS.
[61] A. Bowcock,et al. A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. , 1999, The Journal of clinical endocrinology and metabolism.
[62] D. Cooper,et al. Diagnosis, prediction, and natural course of HIV-1 protease-inhibitor-associated lipodystrophy, hyperlipidaemia, and diabetes mellitus: acohort study , 1999, The Lancet.
[63] A. J. Mcadams,et al. The alternative pathway C3 convertase and glomerular deposits , 1999, Pediatric Nephrology.
[64] F. Schick,et al. Measurement of intracellular triglyceride stores by H spectroscopy: validation in vivo. , 1999, American journal of physiology. Endocrinology and metabolism.
[65] R. Peshock,et al. Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety). , 1999, The Journal of clinical endocrinology and metabolism.
[66] M. Schambelan,et al. Body shape changes in HIV-infected patients. , 1998, Journal of acquired immune deficiency syndromes and human retrovirology : official publication of the International Retrovirology Association.
[67] M. Olive,et al. Life without white fat: a transgenic mouse. , 1998, Genes & development.
[68] R. Hammer,et al. Insulin resistance and diabetes mellitus in transgenic mice expressing nuclear SREBP-1c in adipose tissue: model for congenital generalized lipodystrophy. , 1998, Genes & development.
[69] D. Jakubowicz,et al. Effects of metformin on spontaneous and clomiphene-induced ovulation in the polycystic ovary syndrome. , 1998, The New England journal of medicine.
[70] David A. Cooper,et al. A syndrome of peripheral lipodystrophy, hyperlipidaemia and insulin resistance in patients receiving HIV protease inhibitors , 1998, AIDS.
[71] A. Bowcock,et al. Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21–22 , 1998, Nature Genetics.
[72] J. Currier,et al. Protease inhibitor-associated hyperglycaemia , 1997, The Lancet.
[73] A. Kumar,et al. Cloning and expression of two human lysophosphatidic acid acyltransferase cDNAs that enhance cytokine-induced signaling responses in cells. , 1997, DNA and cell biology.
[74] O. Trygstad,et al. Generalized lipodystrophy, congenital and acquired (lipoatrophy) , 1996, Acta paediatrica (Oslo, Norway : 1992). Supplement.
[75] G. Gores,et al. Ursodeoxycholic acid or clofibrate in the treatment of non‐alcohol‐induced steatohepatitis: A pilot study , 1996, Hepatology.
[76] M. Chandalia,et al. Severe Islet Amyloidosis in Congenital Generalized Lipodystrophy , 1996, Diabetes Care.
[77] M. Chandalia,et al. Postmortem findings in congenital generalized lipodystrophy. , 1995, The Journal of clinical endocrinology and metabolism.
[78] P. Mathieson,et al. Are nephritic factors nephritogenic? , 1994, American journal of kidney diseases : the official journal of the National Kidney Foundation.
[79] H. Worman,et al. Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C. , 1993, The Journal of biological chemistry.
[80] P. Lachmann,et al. Complement-mediated adipocyte lysis by nephritic factor sera , 1993, The Journal of experimental medicine.
[81] S. Grundy,et al. Peculiar distribution of adipose tissue in patients with congenital generalized lipodystrophy. , 1992, The Journal of clinical endocrinology and metabolism.
[82] A. Torrelo,et al. Partial lipodystrophy and dermatomyositis. , 1991, Archives of dermatology.
[83] D. Cutler,et al. Insulin-resistant diabetes mellitus and hypermetabolism in mandibuloacral dysplasia: a newly recognized form of partial lipodystrophy. , 1991, The Journal of clinical endocrinology and metabolism.
[84] J. Billings,et al. Lipoatrophic panniculitis: a possible autoimmune inflammatory disease of fat. Report of three cases. , 1987, Archives of dermatology.
[85] G. Blobel,et al. cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins. , 1986, Proceedings of the National Academy of Sciences of the United States of America.
[86] J. Köbberling,et al. Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state. , 1986, Journal of medical genetics.
[87] Jasin He. Systemic lupus erythematosus, partial lipodystrophy and hypocomplementemia. , 1979 .
[88] P. Duffus,et al. Identification of nephritic factor as an immunoglobulin. , 1978, Clinical and experimental immunology.
[89] Sensenbrenner Ja,et al. A low birthweight syndrome, ? Rieger syndrome. , 1975 .
[90] M. Dunnigan,et al. Familial lipoatrophic diabetes with dominant transmission. A new syndrome. , 1974, The Quarterly journal of medicine.
[91] S. Imamura,et al. Lipodystrophia centrifugalis abdominalis infantilis. , 1971, Archives of dermatology.
[92] V. McKusick,et al. New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys. , 1971, Birth defects original article series.
[93] M. Seip. Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome? , 1959, Acta paediatrica.
[94] W. Berardinelli. An undiagnosed endocrinometabolic syndrome: report of 2 cases. , 1954, The Journal of clinical endocrinology and metabolism.
[95] A. Simons. Eine seltene trophoneurose („Iipodystrophia progressiva“) , 1911 .
[96] S. W. Mitchell. SINGULAR CASE OF ABSENCE OF ADIPOSE MATTER IN THE UPPER HALF OF THE BODY , 1885 .