Genetic disorders of adipose tissue development, differentiation, and death.

Epigenetic differences arise during the lifetime of monozygotic twins

Fraga, M. F., Ballestar, E., Paz, M. F., Ropero, S., Setien, F., Ballestar, M. L., Heine-Suñer, D., Cigudosa, J. C., Urioste, M., Benitez, J., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0500398102 · Cited by 3,602 · see citing works

Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

Eriksson, M., Brown, W. T., Gordon, L. B., Glynn, M. W., Singer, J. I., Scott, L. J., Erdos, M. R., Robbins, C. M., Moses, T. Y., Berglund, P., et al. (2003) · Nature · doi:10.1038/nature01629 · Cited by 2,217 · see citing works

PPARγ Is Required for the Differentiation of Adipose Tissue In Vivo and In Vitro

Rosen, E. D., Sarraf, P., Troy, A. E., Bradwin, G., Moore, K. J., Milstone, D. S., Spiegelman, B. M., & Mortensen, R. M. (1999) · Molecular Cell · doi:10.1016/s1097-2765(00)80211-7 · Cited by 2,081 · see citing works

PPARγ Is Required for Placental, Cardiac, and Adipose Tissue Development

Barak, Y., Nelson, M. C., Ong, E. S., Jones, Y., Ruiz‐Lozano, P., Chien, K. R., Koder, A., & Evans, R. M. (1999) · Molecular Cell · doi:10.1016/s1097-2765(00)80209-9 · Cited by 1,960 · see citing works

The activation of Akt/PKB signaling pathway and cell survival

Song, G., Ouyang, G., & Bao, S. (2005) · Journal of Cellular and Molecular Medicine · doi:10.1111/j.1582-4934.2005.tb00337.x · Cited by 1,891 · see citing works

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

Bonne, G., di Barletta, M. R., Varnous, S., Bécane, H. M., Hammouda, E.-H., Merlini, L., Francesco Muntoni, A., Greenberg, C. R., Gary, F., Urtizberea, J. A., et al. (1999) · Nature Genetics · doi:10.1038/6799 · Cited by 1,353 · see citing works

PPARγ Mediates High-Fat Diet–Induced Adipocyte Hypertrophy and Insulin Resistance

Kubota, N., Terauchi, Y., Miki, H., Tamemoto, H., Yamauchi, T., Komeda, K., Satoh, S., Nakano, R., Ishii, C., 杉山, 拓., et al. (1999) · Molecular Cell · doi:10.1016/s1097-2765(00)80210-5 · Cited by 1,342 · see citing works

Leptin-Replacement Therapy for Lipodystrophy

Oral, E. A., Simha, V., Ruiz, E., Andewelt, A., Premkumar, A., Snell, P., Wagner, A. J., DePaoli, A. M., Reitman, M. L., Taylor, S. I., et al. (2002) · New England Journal of Medicine · doi:10.1056/nejmoa012437 · Cited by 1,247 · see citing works

Loss of a-Type Lamin Expression Compromises Nuclear Envelope Integrity Leading to Muscular Dystrophy

Sullivan, T. L., Escalante‐Alcalde, D., Bhatt, H., Anver, M. R., BHAT, N. K., Nagashima, K., Stewart, C. L., & Burke, B. E. (1999) · The Journal of Cell Biology · doi:10.1083/jcb.147.5.913 · Cited by 1,197 · see citing works

Acquired and Inherited Lipodystrophies

Garg, A. (2004) · New England Journal of Medicine · doi:10.1056/nejmra025261 · Cited by 939 · see citing works

Identification of the gene altered in Berardinelli–Seip congenital lipodystrophy on chromosome 11q13

Magré, J., Délepine, M., Khallouf, E., Gedde‐Dahl, T., Maldergem, L. V., Sobel, E. M., Papp, J. C., Meier, M., Mégarbané, A., BSCL Working Group, et al. (2001) · Nature Genetics · doi:10.1038/ng585 · Cited by 755 · see citing works

Severe diabetes, age-dependent loss of adipose tissue, and mild growth deficiency in mice lacking Akt2/PKBβ

Garofalo, R. S., Orena, S. J., Rafidi, K., Torchia, A. J., Stock, J. L., Hildebrandt, A. L., Coskran, T., Black, S. C., Brees, D. J., Wicks, J. R., et al. (2003) · Journal of Clinical Investigation · doi:10.1172/jci16885 · Cited by 726 · see citing works

cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins.

Fisher, D. Z., Chaudhary, N., & Blobel, G. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.17.6450 · Cited by 721 · see citing works

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy

Shackleton, S., Lloyd, D. J., Jackson, S. N. J., Evans, R. S., Niermeijer, M. F., Singh, B. M., Schmidt, H., Brabant, G. E., Kumar, S., Durrington, P. N., et al. (2000) · Nature Genetics · doi:10.1038/72807 · Cited by 701 · see citing works

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

Cao, H. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.1.109 · Cited by 668 · see citing works

Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C

Lin, F., & Worman, H. J. (1993) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)85424-8 · Cited by 635 · see citing works

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

Muchir, A. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.9.1453 · Cited by 615 · see citing works

Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder Type 2) and Mouse

Sandre‐Giovannoli, A. D., Chaouch, M., Kozlov, S. V., Vallat, J.-M., Tazir, M., Kassouri, N., Szepetowski, P., Hamadouche, T., Vandenberghe, A., Stewart, C. L., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/339274 · Cited by 562 · see citing works

A Family with Severe Insulin Resistance and Diabetes Due to a Mutation in AKT2

George, S., Rochford, J. J., Wolfrum, C., Gray, S. L., Schinner, S., Wilson, J. C., Soos, M. A., Murgatroyd, P. R., Williams, R. M., Acerini, C. L., et al. (2004) · Science · doi:10.1126/science.1096706 · Cited by 559 · see citing works

Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase–deficient mice

Pendás, A. M., Zhou, Z., Cadiñanos, J., Freije, J. M. P., Wang, J., Hultenby, K., Astudillo, A., Wernerson, A., Rodríguez, F., Tryggvason, K., et al. (2002) · Nature Genetics · doi:10.1038/ng871 · Cited by 554 · see citing works

Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C

Novelli, G., Muchir, A., Sangiuolo, F. C., Helbling-Leclerc, A., D’Apice, M. R., Massart, C., Capon, F., Sbraccia, P., Federici, M., Lauro, R., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/341908 · Cited by 550 · see citing works

AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34

Agarwal, A. K., Oral, E. A., de Almeida, S., Akkoç, N., Taylor, S. I., Bowcock, A. M., Barnes, R. I., & Garg, A. (2002) · Nature Genetics · doi:10.1038/ng880 · Cited by 522 · see citing works

MITOCHONDRIAL DNA AND HUMAN EVOLUTION

Pakendorf, B., & Stoneking, M. (2005) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.6.080604.162249 · Cited by 481 · see citing works

Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect

Bergö, M. O., Gavino, B. J., Ross, J., Schmidt, W. K., Hong, C., Kendall, L. V., Mohr, A., Meta, M. D., Genant, H. K., Jiang, Y., et al. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.192460799 · Cited by 443 · see citing works

LMNA mutations in atypical Werner's syndrome

Chen, L., Lee, L., Kudlow, B. A., dos Santos, H. G., Sletvold, O., Shafeghati, Y., Botha, E. G., Garg, A., Hanson, N. B., Martin, G. M., et al. (2003) · The Lancet · doi:10.1016/s0140-6736(03)14069-x · Cited by 433 · see citing works

Life at the edge: the nuclear envelope and human disease

Burke, B. E., & Stewart, C. L. (2002) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm879 · Cited by 425 · see citing works

Human Metabolic Syndrome Resulting From Dominant-Negative Mutations in the Nuclear Receptor Peroxisome Proliferator-Activated Receptor-γ

Savage, D. B., Tan, G. D., Acerini, C. L., Jebb, S. A., Agostini, M., Gurnell, M., Williams, R., Umpleby, A. M., Thomas, E. L., Bell, J. D., et al. (2003) · Diabetes · doi:10.2337/diabetes.52.4.910 · Cited by 423 · see citing works

Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

di Barletta, M. R., Ricci, E., Galluzzi, G., Tonali, P. A., Mora, M., Morandi, L. O., Romorini, A., Voït, T., Ørstavik, K. H., Merlini, L., et al. (2000) · The American Journal of Human Genetics · doi:10.1086/302869 · Cited by 415 · see citing works

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

Agarwal, A. K. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg213 · Cited by 402 · see citing works

Improved insulin-sensitivity in mice heterozygous for PPAR-γ deficiency

Miles, P. D. G., Barak, Y., He, W., Evans, R. M., & Olefsky, J. M. (2000) · Journal of Clinical Investigation · doi:10.1172/jci8538 · Cited by 400 · see citing works

Serum Adiponectin and Leptin Levels in Patients with Lipodystrophies

Haque, W. A., Shimomura, I., Matsuzawa, Y., & Garg, A. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.5.8624 · Cited by 394 · see citing works

AN UNDIAGNOSED ENDOCRINOMETABOLIC SYNDROME: REPORT OF 2 CASES*

Berardinelli, W. (1954) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-14-2-193 · Cited by 386 · see citing works

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

Windpassinger, C., Auer‐Grumbach, M., Irobi, J., Patel, H., Petek, E., Hörl, G., Malli, R., Reed, J. A., Dierick, I., Verpoorten, N., et al. (2004) · Nature Genetics · doi:10.1038/ng1313 · Cited by 381 · see citing works

A progeroid syndrome in mice is caused by defects in A-type lamins

Mounkes, L. C., Козлов, С. В., Hernandez, L. F., Sullivan, T. L., & Stewart, C. L. (2003) · Nature · doi:10.1038/nature01631 · Cited by 367 · see citing works

Mouse model carrying H222P- Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies

Arimura, T., Helbling-Leclerc, A., Massart, C., Varnous, S., Niel, F., Lacène, E., Fromes, Y., Toussaint, M., Mura, A., Keller, D. I., et al. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddi017 · Cited by 330 · see citing works

A Protein Farnesyltransferase Inhibitor Ameliorates Disease in a Mouse Model of Progeria

Fong, L. G., Frost, D. J., Meta, M. D., Qiao, X., Yang, S. H., Coffinier, C., & Young, S. G. (2006) · Science · doi:10.1126/science.1124875 · Cited by 315 · see citing works

Generalized lipodystrophy, congenital and acquired (lipoatrophy)

Seip, M., & Trygstad, O. (1996) · Acta Paediatrica · doi:10.1111/j.1651-2227.1996.tb14262.x · Cited by 293 · see citing works

Mutations in the genes encoding 11β-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency

Draper, N., Walker, E. A., Bujalska, I. J., Tomlinson, J. W., Chalder, S. M., Arlt, W., Lavery, G. G., Bedendo, O., Ray, D. W., Laing, I., et al. (2003) · Nature Genetics · doi:10.1038/ng1214 · Cited by 285 · see citing works

The processing pathway of prelamin a

Sinensky, M. S., Fantle, K., Trujillo, M., McLain, T., Kupfer, A., & Dalton, M. B. (1994) · Journal of Cell Science · doi:10.1242/jcs.107.1.61 · Cited by 278 · see citing works

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, R. A., Garg, A., Du, F., Bennett, L. B., Veile, R. A., Oral, E. A., Taylor, S. I., Lovett, M., & Bowcock, A. M. (2000) · The American Journal of Human Genetics · doi:10.1086/302836 · Cited by 273 · see citing works

A Novel Heterozygous Mutation in Peroxisome Proliferator-Activated Receptor-γ Gene in a Patient with Familial Partial Lipodystrophy

Agarwal, A. K., & Garg, A. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.1.8290 · Cited by 269 · see citing works

PPARG F388L, a Transactivation-Deficient Mutant, in Familial Partial Lipodystrophy

Hegele, R. A., Cao, H., Frankowski, C., Mathews, S. T., & Leff, T. (2002) · Diabetes · doi:10.2337/diabetes.51.12.3586 · Cited by 263 · see citing works

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

Maldergem, L. V., Magré, J., Khallouf, T. E., Gedde‐Dahl, T., Délepine, M., Trygstad, O., Seemanová, E., Stephenson, T. J., Albott, C. S., Bonńici, F., et al. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.10.722 · Cited by 250 · see citing works

Phenotypic and Genetic Heterogeneity in Congenital Generalized Lipodystrophy

Agarwal, A. K., Simha, V., Oral, E. A., Moran, S. A., Görden, P., O’Rahilly, S., Zaidi, Z., Gürakan, F., Arslanian, S. A., Klar, A., et al. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-030855 · Cited by 243 · see citing works

Lipodystrophy and Gigantism with Associated Endocrine Manifestations: A New Diencephalic Syndrome?

SEIP, M. (1959) · Acta Paediatrica · doi:10.1111/j.1651-2227.1959.tb16421.x · Cited by 239 · see citing works

LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090)

Cao, H., & Hegele, R. A. (2003) · Journal of Human Genetics · doi:10.1007/s10038-003-0025-3 · Cited by 230 · see citing works

Thematic Review Series: Lipid Posttranslational Modifications. Prelamin A, Zmpste24, misshapen cell nuclei, and progeria—new evidence suggesting that protein farnesylation could be important for disease pathogenesis

Young, S. G., Fong, L. G., & Michaelis, S. (2005) · Journal of Lipid Research · doi:10.1194/jlr.r500011-jlr200 · Cited by 213 · see citing works

Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice

Mounkes, L. C., Kozlov, S. V., Rottman, J. N., & Stewart, C. L. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi221 · Cited by 204 · see citing works

Adipose Tissue Distribution Pattern in Patients with Familial Partial Lipodystrophy (Dunnigan Variety)1

Garg, A., Peshock, R. M., & Fleckenstein, J. L. (1999) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.84.1.5383 · Cited by 197 · see citing works

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

Caux, F. A., Dubosclard, E., Lascols, O., Buendia, B., Chazouillères, O., Cohen, A. A., Courvalin, J., Laroche, L., Capeau, J., Vigouroux, C., et al. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-021506 · Cited by 196 · see citing works

38. Congenital Hyperpituitarism of Hypothalamic Origin; A new Diencephalic Syndrome with Endocrine Manifestations

Seip, M. (1959) · Acta Paediatrica · doi:10.1111/j.1651-2227.1959.tb17558.x · Cited by 195 · see citing works

A Gene for Congenital Generalized Lipodystrophy Maps to Human Chromosome 9q34

Garg, A., Wilson, R., Barnes, R., Arioǧlu, E., Zaidi, Z., Gürakan, F., Koçak, N., O’Rahilly, S., Taylor, S. I., Patel, S. B., et al. (1999) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.84.9.6103 · Cited by 192 · see citing works

Familial Lipoatrophic Diabetes with Dominant Transmission

Dunnigan, M. G., Cochrane, M., KELLY, A., & Scott, J. W. (1974) · QJM · doi:10.1093/oxfordjournals.qjmed.a067376 · Cited by 182 · see citing works

Phenotypic Heterogeneity in Body Fat Distribution in Patients with Congenital Generalized Lipodystrophy Caused by Mutations in the AGPAT2 or Seipin Genes

Simha, V., & Garg, A. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-030835 · Cited by 180 · see citing works

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, M., Bourut, C., Lascols, O., Shackleton, S., Lloyd, D. J., Guerci, B., Padova, G., Valensi, P. E., et al. (2000) · Diabetes · doi:10.2337/diabetes.49.11.1958 · Cited by 179 · see citing works

From syndrome families to functional genomics

Brunner, H. G., & van Driel, M. A. (2004) · Nature Reviews Genetics · doi:10.1038/nrg1383 · Cited by 175 · see citing works

Gender Differences in the Prevalence of Metabolic Complications in Familial Partial Lipodystrophy (Dunnigan Variety)*

Garg, A. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.85.5.6605 · Cited by 173 · see citing works

Congenital generalized lipodystrophy: significance of triglyceride biosynthetic pathways

Agarwal, A. K., & Garg, A. (2003) · Trends in Endocrinology and Metabolism · doi:10.1016/s1043-2760(03)00078-x · Cited by 165 · see citing works

The structure and functions of human lysophosphatidic acid acyltransferases

David, W. L. (2001) · Frontiers in bioscience · doi:10.2741/leung · Cited by 157 · see citing works

Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21–22

Peters, J. M., Barnes, R., Bennett, L. B., Gitomer, W. M., Bowcock, A. M., & Garg, A. (1998) · Nature Genetics · doi:10.1038/ng0398-292 · Cited by 157 · see citing works

Hypertension and abnormal fat distribution but not insulin resistance in mice with P465L PPARγ

Tsai, Y.-S., Kim, H.-J., Takahashi, N., Kim, H., Hagaman, J. R., Kim, J. K., & Maeda, N. (2004) · Journal of Clinical Investigation · doi:10.1172/jci20964 · Cited by 156 · see citing works

Premature Atherosclerosis Associated With Monogenic Insulin Resistance

Hegele, R. A. (2001) · Circulation · doi:10.1161/01.cir.103.18.2225 · Cited by 151 · see citing works

Adipose Tissue Distribution Pattern in Patients with Familial Partial Lipodystrophy (Dunnigan Variety)

Garg, A. (1999) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.84.1.170 · Cited by 149 · see citing works

Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene

Garg, A., Speckman, R. A., & Bowcock, A. M. (2002) · The American Journal of Medicine · doi:10.1016/s0002-9343(02)01070-7 · Cited by 146 · see citing works

Genetic Basis of Lipodystrophies and Management of Metabolic Complications

Agarwal, A. K., & Garg, A. (2006) · Annual Review of Medicine · doi:10.1146/annurev.med.57.022605.114424 · Cited by 146 · see citing works

Digenic inheritance of severe insulin resistance in a human pedigree

Savage, D. B., Agostini, M., Barroso, I., Gurnell, M., Luan, J., Meirhaeghe, A., Harding, A.-H., Ihrke, G., Rajanayagam, O., Soos, M. A., et al. (2002) · Nature Genetics · doi:10.1038/ng926 · Cited by 144 · see citing works

Lipodystrophies: rare disorders causing metabolic syndrome

Garg, A., & Misra, A. (2004) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2004.03.003 · Cited by 138 · see citing works

Genetic and Phenotypic Heterogeneity in Patients with Mandibuloacral Dysplasia-Associated Lipodystrophy

Simha, V., Agarwal, A. K., Oral, E. A., Fryns, J., & Garg, A. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-021575 · Cited by 136 · see citing works

Cloning and Expression of Two Human Lysophosphatidic Acid Acyltransferase cDNAs That Enhance Cytokine-Induced Signaling Responses in Cells

WEST, J., TOMPKINS, C. K., BALANTAC, N., NUDELMAN, E., Meengs, B., White, T., Bursten, S. L., Coleman, J., Kumar, A., Singer, J. W., et al. (1997) · DNA and Cell Biology · doi:10.1089/dna.1997.16.691 · Cited by 129 · see citing works

Peculiar distribution of adipose tissue in patients with congenital generalized lipodystrophy

Garg, A., Fleckenstein, J. L., Peshock, R. M., & Grundy, S. M. (1992) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.75.2.1639935 · Cited by 128 · see citing works

Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype

Shackleton, S., Smallwood, D. T., Clayton, P. T., Wilson, L. C., Agarwal, A. K., Garg, A., & Trembath, R. C. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.029751 · Cited by 120 · see citing works

Köbberling Type of Familial Partial Lipodystrophy

Herbst, K. L., Tannock, L. R., Deeb, S. S., Purnell, J. Q., Brunzell, J. D., & Chait, A. (2003) · Diabetes Care · doi:10.2337/diacare.26.6.1819 · Cited by 119 · see citing works

Body Fat Distribution and Metabolic Derangements in Patients with Familial Partial Lipodystrophy Associated with Mandibuloacral Dysplasia

Simha, V., & Garg, A. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.2.8258 · Cited by 118 · see citing works

Phenotypic Heterogeneity in Patients with Familial Partial Lipodystrophy (Dunnigan Variety) Related to the Site of Missense Mutations in Lamin A/C Gene1

Garg, A., Vinaitheerthan, M., Weatherall, P. T., & Bowcock, A. M. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.1.7121 · Cited by 117 · see citing works

Human Lysophosphatidic Acid Acyltransferase

Eberhardt, C., Gray, P. W., & Tjoelker, L. W. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.32.20299 · Cited by 115 · see citing works

Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome

Plášilová, M., Chattopadhyay, C., Pal, P., Schaub, N. A., Buechner, S. A., Mueller, H., Miny, P., Ghosh, A., & Heinimann, K. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2004.019661 · Cited by 107 · see citing works

Phenotypic Heterogeneity in Patients with Familial Partial Lipodystrophy (Dunnigan Variety) Related to the Site of Missense Mutations in Lamin A/C Gene

Garg, A. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.86.1.59 · Cited by 101 · see citing works

A Novel Heterozygous Mutation in Peroxisome Proliferator-Activated Receptor- Gene in a Patient with Familial Partial Lipodystrophy

Agarwal, A. K. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.87.1.408 · Cited by 97 · see citing works

Progeria: A cell culture study and clinical report of familial incidence

Rautenstrauch, T., Snigula, F., Krieg, T., Gay, S., & M�ller, P. K. (1977) · European Journal of Pediatrics · doi:10.1007/bf00477545 · Cited by 95 · see citing works

An unidentified neonatal progeroid syndrome: Follow-up report

Wiedemann, H. ‐. (1979) · European Journal of Pediatrics · doi:10.1007/bf00441901 · Cited by 88 · see citing works

Leptin Levels, β-Cell Function, and Insulin Sensitivity in Families with Congenital and Acquired Generalized Lipoatropic Diabetes1

Pardini, V. C., Victoria, I. M. N., Rocha, S. M. V., Andrade, D. G., Rocha, A. M., Pieroni, F. B., Milagres, G., Purisch, S., & Velho, G. (1998) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.83.2.4567 · Cited by 86 · see citing works

Prevalence of Mutations in AGPAT2 Among Human Lipodystrophies

Magré, J., Délepine, M., Maldergem, L. V., Robert, J., Maassen, J. A., Meier, M., Panz, V. R., Kim, C. A., Tubiana‐Rufi, N., Czernichow, P., et al. (2003) · Diabetes · doi:10.2337/diabetes.52.6.1573 · Cited by 84 · see citing works

A homozygousZMPSTE24null mutation in combination with a heterozygous mutation in theLMNAgene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS

Denecke, J., Brune, T., Feldhaus, T., Robenek, H., Kranz, C., Auchus, R. J., Agarwal, A. K., & Marquardt, T. (2006) · Human Mutation · doi:10.1002/humu.20315 · Cited by 83 · see citing works

DISEASE GENE DISCOVERY THROUGH INTEGRATIVE GENOMICS

Giallourakis, C. C., Henson, C., Reich, M. M., Xie, X. S., & Mootha, V. K. (2005) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.6.080604.162234 · Cited by 83 · see citing works

Risk Factors for Diabetes in Familial Partial Lipodystrophy, Dunnigan Variety

Haque, W. A., Oral, E. A., Dietz, K. R., Bowcock, A. M., Agarwal, A. K., & Garg, A. (2003) · Diabetes Care · doi:10.2337/diacare.26.5.1350 · Cited by 80 · see citing works

Postmortem findings in congenital generalized lipodystrophy

Chandalia, M., Garg, A., Vuitch, F., & Nizzi, F. (1995) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.80.10.7559900 · Cited by 74 · see citing works

The skeleton in congenital, generalized lipodystrophy: evaluation using whole-body radiographic surveys, magnetic resonance imaging and technetium-99m bone scintigraphy

Fleckenstein, J. L., Garg, A., Bonte, F. J., Vuitch, M. F., & Peshock, R. M. (1992) · Skeletal Radiology · doi:10.1007/bf00241817 · Cited by 73 · see citing works

Seipin: a mysterious protein

Agarwal, A. K., & Garg, A. (2004) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2004.07.009 · Cited by 73 · see citing works

Focal Segmental Glomerulosclerosis in Patients with Mandibuloacral Dysplasia Owing to ZMPSTE24 Deficiency

Agarwal, A. K., Zhou, X. J., Hall, R. K., Nicholls, K., Bankier, A., Esch, H. V., Fryns, J., & Garg, A. (2006) · Journal of Investigative Medicine · doi:10.2310/6650.2006.05068 · Cited by 73 · see citing works

A Single-Base Mutation in the Peroxisome Proliferator-Activated Receptor γ4 Promoter Associated with Alteredin VitroExpression and Partial Lipodystrophy

Alshali, K. Z., Cao, H., Knoers, N. V. A. M., Hermus, A. R., Tack, C. J., & Hegele, R. A. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-0280 · Cited by 73 · see citing works

Gender Differences in the Prevalence of Metabolic Complications in Familial Partial Lipodystrophy (Dunnigan Variety)

Garg, A. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.85.5.1776 · Cited by 72 · see citing works

Functional characterization of human 1-acylglycerol-3-phosphate acyltransferase isoform 8: Cloning, tissue distribution, gene structure, and enzymatic activity

Agarwal, A. K., Barnes, R. I., & Garg, A. (2006) · Archives of Biochemistry and Biophysics · doi:10.1016/j.abb.2006.03.014 · Cited by 69 · see citing works

Characterization of Adiposity and Metabolism in Lmna-Deficient Mice

Cutler, D. A., Sullivan, T. L., Marcus‐Samuels, B., Stewart, C. L., & Reitman, M. L. (2002) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.2002.6466 · Cited by 65 · see citing works

Cloning and identification of the human LPAAT-zeta gene, a novel member of the lysophosphatidic acid acyltransferase family

Li, D., Yu, L., Wu, H., Shan, Y., Guo, J., Dang, Y., Wei, Y., & Zhao, S. (2003) · Journal of Human Genetics · doi:10.1007/s10038-003-0045-z · Cited by 61 · see citing works

A Novel Homozygous Ala529ValLMNAMutation in Turkish Patients with Mandibuloacral Dysplasia

Garg, A., Çoğulu, Ö., Özkınay, F., Önay, H., & Agarwal, A. K. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-2560 · Cited by 60 · see citing works

Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes

Aarskog, D., Ose, L., Pande, H., Eide, N. A., & Opitz, J. M. (1983) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320150104 · Cited by 58 · see citing works

Genetic basis of congenital generalized lipodystrophy

Agarwal, A. K., Barnes, R. I., & Garg, A. (2003) · International Journal of Obesity · doi:10.1038/sj.ijo.0802487 · Cited by 58 · see citing works

How epigenetics integrates nuclear functions

Esteller, M., & Almouzni, G. (2005) · EMBO Reports · doi:10.1038/sj.embor.7400456 · Cited by 57 · see citing works

PPARγ: A Critical Determinant of Body Fat Distribution in Humans and Mice

Tsai, Y.-S., & Maeda, N. (2005) · Trends in Cardiovascular Medicine · doi:10.1016/j.tcm.2005.04.002 · Cited by 56 · see citing works

Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy

Haque, W. A., Garg, A., & Agarwal, A. K. (2004) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2004.12.024 · Cited by 54 · see citing works

Cloning and characterization a novel human 1-acyl-sn-glycerol-3-phosphate acyltransferase geneAGPAT7

Ye, G., Chen, C., Huang, S., Han, D., Guo, J., Wan, B., & Yu, L. (2005) · DNA sequence · doi:10.1080/10425170500213712 · Cited by 42 · see citing works

Severe diabetes, age-dependent loss of adipose tissue, and mild growth deficiency in mice lacking Akt2/PKBβ

Garofalo, R. S., Orena, S., Rafidi, K., et al. (2003) · Journal of Clinical Investigation · doi:10.1172/jci200316885 · Cited by 40 · see citing works

Strategies for dissecting epigenetic mechanisms in the mouse

Mager, J., & Bartolomei, M. S. (2005) · Nature Genetics · doi:10.1038/ng1664 · Cited by 39 · see citing works

Leptin Levels,  -Cell Function, and Insulin Sensitivity in Families with Congenital and Acquired Generalized Lipoatropic Diabetes

Pardini, V. C. (1998) · Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.83.2.503 · Cited by 37 · see citing works

Wiedemann-Rautenstrauch (neonatal progeroid) syndrome: New case with normal telomere length in skin fibroblasts

Korniszewski, L., Nowak, R. A., ska-Hoffmann, E. B. O., Sk�rka, A., Gieruszczak‐Białek, D., & Sawadro‐Rochowska, M. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1530 · Cited by 35 · see citing works

Phenotypic Heterogeneity in Body Fat Distribution in Patients with Atypical Werner’s Syndrome Due to Heterozygous Arg133Leu Lamin A/C Mutation

Jacob, K. N., Baptista, F., dos Santos, H. G., Oshima, J., Agarwal, A. K., & Garg, A. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-0939 · Cited by 31 · see citing works

Analysis of all exons of tsc1 and tsc2 genes for germline mutations in Japanese patients with tuberous sclerosis: Report of 10 mutations

Yamashita, Y., Ono, J., Okada, S., Wataya‐Kaneda, M., Yoshikawa, K., Nishizawa, M., Hirayama, Y., Kobayashi, E., Seyama, K., & Hino, O. (2000) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(20000117)90:2 · Cited by 30 · see citing works

cDNA Cloning, Expression and Chromosomal Localization of Two Human Lysophosphatidic Acid Acyltransferases

Eberhardt, C., Gray, P. W., & Tjoelker, L. W. (1999) · Advances in experimental medicine and biology · doi:10.1007/978-1-4615-4793-8_51 · Cited by 28 · see citing works

Body Fat Distribution and Metabolic Derangements in Patients with Familial Partial Lipodystrophy Associated with Mandibuloacral Dysplasia

Simha, V. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.87.2.776 · Cited by 25 · see citing works

DNA methylation patterns in human tissues of uniparental origin using a zinc-finger gene (ZNF127) from the Angelman/Prader-Willi region

Mowery‐Rushton, P., Driscoll, D. J., Nicholls, R. D., Locker, J. D., & Surti, U. (1996) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19960111)61:2 · Cited by 24 · see citing works

A low birthweight syndrome, ? Rieger syndrome.

Sensenbrenner, J. A., Hussels, I. E., & Ls, L. (1975) · PubMed · Cited by 22 · see citing works

Absent iris stroma, narrow body build and small facial bones: a new association or variant of SHORT syndrome?

Bankier, A., KEITH, C. G., & Temple, I. K. (1995) · Clinical Dysmorphology · doi:10.1097/00019605-199510000-00005 · Cited by 15 · see citing works

Developmental Origin of Fat: Tracking Obesity to Its Source

Gesta, S., Tseng, Y.-H., & Kahn, C. R. (2007) · Cell · doi:10.1016/j.cell.2007.10.004 · Cited by 1,508 · see citing works

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

MAGIC, Heid, I. M., Jackson, A. U., Randall, J. C., Winkler, T. W., Qi, L., Steinthorsdottir, V., Thorleifsson, G., Zillikens, M. C., Speliotes, E. K., et al. (2010) · Nature Genetics · doi:10.1038/ng.685 · Cited by 931 · see citing works

Adipocytokines and the Metabolic Complications of Obesity

Rasouli, N., & Kern, P. A. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-1613 · Cited by 739 · see citing works

Altered adipose tissue and adipocyte function in the pathogenesis of metabolic syndrome

Kahn, C. R., Wang, G., & Lee, K. Y. (2019) · Journal of Clinical Investigation · doi:10.1172/jci129187 · Cited by 656 · see citing works

The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology

Szymanski, K. M., Binns, D. D., Bartz, R., Grishin, N. V., Li, W., Agarwal, A. K., Garg, A., Anderson, R. G. W., & Goodman, J. M. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0704154104 · Cited by 628 · see citing works

Lipodystrophies: Genetic and Acquired Body Fat Disorders

Garg, A. (2011) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2011-1159 · Cited by 556 · see citing works

The role of mitochondria in the pathogenesis of type 2 diabetes

Patti, M.-E., & Corvera, S. (2010) · Endocrine Reviews · doi:10.1210/er.2009-0027 · Cited by 551 · see citing works

A TALEN Genome-Editing System for Generating Human Stem Cell-Based Disease Models

Ding, Q., Lee, Y., Schaefer, E. A. K., Peters, D., Veres, A., Kim, K. J., Kuperwasser, N., Motola, D., Meissner, T. B., Hendriks, W. T. J., et al. (2012) · Cell stem cell · doi:10.1016/j.stem.2012.11.011 · Cited by 501 · see citing works

Biochemistry, physiology, and genetics of GPAT, AGPAT, and lipin enzymes in triglyceride synthesis

Takeuchi, K., & Reue, K. (2009) · American Journal of Physiology-Endocrinology and Metabolism · doi:10.1152/ajpendo.90958.2008 · Cited by 463 · see citing works

The dynamic roles of intracellular lipid droplets: from archaea to mammals

Murphy, D. J. (2011) · PROTOPLASMA · doi:10.1007/s00709-011-0329-7 · Cited by 392 · see citing works

Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.

Kim, C., Delepine, M., Boutet, E., Mourabit, H. E., Lay, S. L., Meier, M., Nemani, M., Bridel, E., Leite, C. C., Bertola, D., et al. (2008) · Journal of Clinical Endocrinology and Metabolism · doi:10.1210/jc.2007-1328 · Cited by 390 · see citing works

Deletion of Cavin/PTRF causes global loss of caveolae, dyslipidemia and glucose intolerance

Liu, L.-B., Brown, D., Mckee, M., LeBrasseur, N., Yang, D., Albrecht, K. H., Ravid, K., & Pilch, P. (2008) · Cell Metabolism · doi:10.1016/j.cmet.2008.07.008 · Cited by 350 · see citing works

Lipid droplets: a classic organelle with new outfits

Fujimoto, T., Ohsaki, Y., Cheng, J., Suzuki, M., & Shinohara, Y. (2008) · Histochemistry and Cell Biology · doi:10.1007/s00418-008-0449-0 · Cited by 345 · see citing works

Metabolic syndrome: from epidemiology to systems biology

Lusis, A. J., Attie, A., & Reue, K. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2468 · Cited by 340 · see citing works

Role of Phospholipids in Endocytosis, Phagocytosis, and Macropinocytosis

Bohdanowicz, M., & Grinstein, S. (2013) · Physiological Reviews · doi:10.1152/physrev.00002.2012 · Cited by 306 · see citing works

Lipoatrophy and severe metabolic disturbance in mice with fat-specific deletion of PPARγ

Wang, F., Mullican, S. E., DiSpirito, J. R., Peed, L. C., & Lazar, M. A. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1314863110 · Cited by 253 · see citing works

Molecular Mechanisms of Hepatic Steatosis and Insulin Resistance in the AGPAT2-Deficient Mouse Model of Congenital Generalized Lipodystrophy

Cortés, V., Curtis, D. E., Sukumaran, S., Shao, X., Parameswara, V., Rashid, S., Smith, A. R., Ren, J., Esser, V., Hammer, R. E., et al. (2009) · Cell Metabolism · doi:10.1016/j.cmet.2009.01.002 · Cited by 226 · see citing works

C/EBP transcription factors regulate SREBP1c gene expression during adipogenesis

Payne, V. A., Au, W.-S., Lowe, C. E., Rahman, S. M., Friedman, J. E., O’Rahilly, S., & Rochford, J. J. (2009) · Biochemical Journal · doi:10.1042/bj20091112 · Cited by 214 · see citing works

The Human Lipodystrophy Gene BSCL2/Seipin May Be Essential for Normal Adipocyte Differentiation

Payne, V. A., Grimsey, N. J., Tuthill, A., Virtue, S., Gray, S. L., Nora, E. D., Semple, R. K., O’Rahilly, S., & Rochford, J. J. (2008) · Diabetes · doi:10.2337/db08-0184 · Cited by 199 · see citing works

Lipodystrophies: disorders of adipose tissue biology.

Garg, A., & Agarwal, A. K. (2009) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2008.12.014 · Cited by 184 · see citing works

Adipose Depots Possess Unique Developmental Gene Signatures

Yamamoto, Y., Gesta, S., Lee, K. Y., Tran, T. T., Saadatirad, P., & Kahn, C. R. (2010) · Obesity · doi:10.1038/oby.2009.512 · Cited by 185 · see citing works

Insulin Resistance in Children

Tagi, V. M., Giannini, C., & Chiarelli, F. (2019) · Frontiers in Endocrinology · doi:10.3389/fendo.2019.00342 · Cited by 176 · see citing works

Predictors of Acquired Lipodystrophy in Juvenile-Onset Dermatomyositis and a Gradient of Severity

Bingham, A., Mamyrova, G., Rother, K. I., Oral, E. A., Cochran, E. K., Premkumar, A., Kleiner, D. E., James‐Newton, L., Targoff, I. N., Pandey, J. P., et al. (2008) · Medicine · doi:10.1097/md.0b013e31816bc604 · Cited by 172 · see citing works

Thyroid hormone-related regulation of gene expression in human fatty liver.

Pihlajamäki, J., Boes, T., Kim, E.-Y., Dearie, F., Kim, B. W., Schroeder, J., Mun, E., Nasser, I., Park, P. J., Bianco, A. C., et al. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-0212 · Cited by 164 · see citing works

A novel ATAC-seq approach reveals lineage-specific reinforcement of the open chromatin landscape via cooperation between BAF and p63

Bao, X., Rubin, A. J., Qu, K., Zhang, J., Giresi, P. G., Chang, H. Y., & Khavari, P. A. (2015) · Genome Biology · doi:10.1186/s13059-015-0840-9 · Cited by 164 · see citing works

Expression of the Splicing Factor Gene SFRS10 Is Reduced in Human Obesity and Contributes to Enhanced Lipogenesis

Pihlajamäki, J., Lerín, C., Itkonen, P., Boes, T., Floß, T., Schroeder, J., Dearie, F., Crunkhorn, S., Burak, M. F., Jiménez‐Chillarón, J. C., et al. (2011) · Cell Metabolism · doi:10.1016/j.cmet.2011.06.007 · Cited by 156 · see citing works

Tissue-Autonomous Function of Drosophila Seipin in Preventing Ectopic Lipid Droplet Formation

Tian, Y., Bi, J., Shui, G., Liu, Z., Xiang, Y., Liu, Y. M., Wenk, M. R., Yang, H., & Huang, X. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1001364 · Cited by 147 · see citing works

Mechanotransduction from the ECM to the genome: Are the pieces now in place?

Gieni, R. S., & Hendzel, M. J. (2007) · Journal of Cellular Biochemistry · doi:10.1002/jcb.21364 · Cited by 143 · see citing works

White adipose tissue development in zebrafish is regulated by both developmental time and fish size

Imrie, D., & Sadler, K. C. (2010) · Developmental Dynamics · doi:10.1002/dvdy.22443 · Cited by 137 · see citing works

Lipidomics as a Principal Tool for Advancing Biomedical Research

Lam, S. M., & Shui, G. (2013) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2013.06.007 · Cited by 128 · see citing works

The Human Lipodystrophy Gene Product Berardinelli-Seip Congenital Lipodystrophy 2/Seipin Plays a Key Role in Adipocyte Differentiation

Chen, W., Yechoor, V. K., Chang, B. H.-J., Li, M. V., March, K. L., & Chan, L. (2009) · Endocrinology · doi:10.1210/en.2009-0236 · Cited by 121 · see citing works

Update on Dyslipidemia

Garg, A., & Simha, V. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2007-0275 · Cited by 120 · see citing works

Fat body remodeling and homeostasis control in Drosophila

Zheng, H., Yang, X., & Xi, Y. (2016) · Life Sciences · doi:10.1016/j.lfs.2016.10.019 · Cited by 115 · see citing works

Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance

Payne, F., Colnaghi, R., Rocha, N., Seth, A., Harris, J., Carpenter, G., Bottomley, W. E., Wheeler, E., Wong, S., Saudek, V., et al. (2014) · Journal of Clinical Investigation · doi:10.1172/jci73264 · Cited by 112 · see citing works

Cell proliferation, viability, and in vitro differentiation of equine mesenchymal stem cells seeded on bacterial cellulose hydrogel scaffolds

Favi, P. M., Benson, R. S., Neilsen, N. R., Hammonds, R. L., Bates, C. C., Stephens, C. P., & Dhar, M. S. (2013) · Materials Science and Engineering C · doi:10.1016/j.msec.2012.12.100 · Cited by 110 · see citing works

Serum interleukin 1 receptor antagonist as an independent marker of non-alcoholic steatohepatitis in humans

Pihlajamäki, J., Kuulasmaa, T., Kamińska, D., Simonen, M., Kärjä, V. J., Grönlund, S., Käkelä, P., Pääkkönen, M. E., Kainulainen, S., Punnonen, K. R. A., et al. (2011) · Journal of Hepatology · doi:10.1016/j.jhep.2011.10.005 · Cited by 107 · see citing works

Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity

Barrowman, J., Wiley, P. A., Hudon, S. E., Hrycyna, C. A., & Michaelis, S. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds233 · Cited by 104 · see citing works

Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey

Akıncı, B., Önay, H., Demir, T., Özen, S., Kayserili, H., Akıncı, G., Nur, B. G., Tüysüz, B., Özbek, M. N., Güngör, Â., et al. (2016) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2016-1005 · Cited by 99 · see citing works

Lipid droplet formation in response to oleic acid in Huh-7 cells is a fatty acid receptor mediated event

Rohwedder, A., Zhang, Q., Rudge, S. A., & Wakelam, M. J. O. (2014) · Journal of Cell Science · doi:10.1242/jcs.145854 · Cited by 92 · see citing works

Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort

Gonzaga-Jauregui, C. G., Ge, W., Staples, J. C., Hout, C. V. V., Yadav, A., Colonie, R. D., Leader, J. B., Kirchner, H. L., Murray, M. F., Reid, J. G., et al. (2019) · Diabetes · doi:10.2337/db19-0447 · Cited by 92 · see citing works

Unravelling hair follicle–adipocyte communication

Schmidt, B., & Horsley, V. (2012) · Experimental Dermatology · doi:10.1111/exd.12001 · Cited by 88 · see citing works

Identification and association analysis of several hundred single nucleotide polymorphisms within candidate genes for back fat thickness in Italian Large White pigs using a selective genotyping approach1

Fontanesi, L., Galimberti, G., Calò, D. G., Fronza, R., Martelli, P. L., Scotti, E., Colombo, M., Schiavo, G., Casadio, R., Buttazzoni, L., et al. (2012) · Journal of Animal Science · doi:10.2527/jas.2011-4797 · Cited by 87 · see citing works

Exploring the pathophysiology behind the more common genetic and acquired lipodystrophies

Nolis, T. (2013) · Journal of Human Genetics · doi:10.1038/jhg.2013.107 · Cited by 87 · see citing works

Human 1-Acylglycerol-3-phosphate O-Acyltransferase Isoforms 1 and 2

Agarwal, A. K., Sukumaran, S., Cortés, V., Tunison, K., Mizrachi, D., Sankella, S., Gerard, R. D., Horton, J. D., & Garg, A. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.250449 · Cited by 84 · see citing works

Reep1null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation

Renvoisé, B., Malone, B., Falgairolle, M., Munasinghe, J., Stadler, J., Sibilla, C., Park, S. H., & Blackstone, C. D. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw315 · Cited by 83 · see citing works

Paediatric fatty liver disease (PeFLD): All is not NAFLD – Pathophysiological insights and approach to management

Hegarty, R., Deheragoda, M. G., Fitzpatrick, E., & Dhawan, A. K. (2018) · Journal of Hepatology · doi:10.1016/j.jhep.2018.02.006 · Cited by 74 · see citing works

Adipogenic signaling in rat white adipose tissue: Modulation by aging and calorie restriction

Zhu, M., Lee, G. D., Ding, L., Hu, J., Qiu, G., de Cabo, R., Bernier, M., Ingram, D. K., & Zou, S. (2007) · Experimental Gerontology · doi:10.1016/j.exger.2007.05.011 · Cited by 71 · see citing works

Caveolin-1: A New Locus for Human Lipodystrophy

Garg, A., & Agarwal, A. K. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-0426 · Cited by 59 · see citing works

An inhibitory role of progerin in the gene induction network of adipocyte differentiation from iPS cells

Xiong, Z.-M., LaDana, C., Wu, D., & Cao, K. (2013) · Aging · doi:10.18632/aging.100550 · Cited by 56 · see citing works

A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4

Dwianingsih, E. K., Takeshima, Y., Itoh, K., Yamauchi, Y., Awano, H., Malueka, R. G., Nishida, A., Ota, M., Yagi, M., & Matsuo, M. (2010) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2010.06.016 · Cited by 56 · see citing works

ZMPSTE24, an integral membrane zinc metalloprotease with a connection to progeroid disorders

Barrowman, J., & Michaelis, S. (2009) · Biological Chemistry · doi:10.1515/bc.2009.080 · Cited by 55 · see citing works

Role of thyroid hormone homeostasis in obesity-prone and obesity-resistant mice fed a high-fat diet

Xia, S., Duan, X., Hao, L.-Y., Li, L., Cheng, X., Xie, Z., Qiao, Y., Li, L., Xue Ming, T. A. N. G., Shi, Y., et al. (2015) · Metabolism · doi:10.1016/j.metabol.2014.12.010 · Cited by 56 · see citing works

Functional characterization of the human 1-acylglycerol-3-phosphate-O-acyltransferase isoform 10/glycerol-3-phosphate acyltransferase isoform 3

Sukumaran, S., Barnes, R. I., Garg, A., & Agarwal, A. K. (2009) · Journal of Molecular Endocrinology · doi:10.1677/jme-09-0010 · Cited by 56 · see citing works

Single-cell analysis of insulin-regulated fatty acid uptake in adipocytes

Varlamov, O., Somwar, R., Cornea, A. M., Kievit, P., Grove, K. L., & Roberts, C. T. (2010) · American Journal of Physiology-Endocrinology and Metabolism · doi:10.1152/ajpendo.00330.2010 · Cited by 53 · see citing works

Lysophospholipid acyltransferases

Agarwal, A. K. (2012) · Current Opinion in Lipidology · doi:10.1097/mol.0b013e328354fcf4 · Cited by 52 · see citing works

Endolysosomal phospholipidosis and cytosolic lipid droplet storage and release in macrophages

Schmitz, G., & Grandl, M. (2008) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2008.12.007 · Cited by 52 · see citing works

Characterization of Substrate Preference for Slc1p and Cst26p in Saccharomyces cerevisiae Using Lipidomic Approaches and an LPAAT Activity Assay

Shui, G., Guan, X. L., Gopalakrishnan, P., Xue, Y., Goh, J. S. Y., Yang, H., & Wenk, M. R. (2010) · PLoS ONE · doi:10.1371/journal.pone.0011956 · Cited by 51 · see citing works

Adipose Tissue: An Emerging Target for Adeno-associated Viral Vectors

Bates, R., Huang, W., & Cao, L. (2020) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2020.09.009 · Cited by 49 · see citing works

Minireview: Obesity and LipOdystrophy—Where Do the Circles Intersect?

Chehab, F. F. (2008) · Endocrinology · doi:10.1210/en.2007-1355 · Cited by 48 · see citing works

Clinical and molecular aspects of Berardinelli–Seip Congenital Lipodystrophy (BSCL)

Gomes, K. B., Pardini, V. C., & Fernandes, A. P. (2009) · Clinica Chimica Acta · doi:10.1016/j.cca.2008.12.032 · Cited by 43 · see citing works

Efficacy of pioglitazone in familial partial lipodystrophy of the Dunnigan type: a case report

Moreau, F., Boullu-Sanchis, S., Vigouroux, C., Lucescu, C., Lascols, O., Sapin, R., Ruimy, D., Guerci, B., Pinget, M., & Jeandidier, N. (2007) · Diabetes & Metabolism · doi:10.1016/j.diabet.2007.04.005 · Cited by 43 · see citing works

Delphinidin, a major anthocyanin, inhibits 3T3‐L1 pre‐adipocyte differentiation through activation of Wnt/β‐catenin signaling

Rahman, N., Jeon, M., & Kim, Y. (2016) · BioFactors · doi:10.1002/biof.1251 · Cited by 42 · see citing works

Gene-gene and gene-environment interactions in lipodystrophy: Lessons learned from natural PPARγ mutants

Broekema, M. F., Savage, D. B., Monajemi, H., & Kalkhoven, E. (2019) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2019.02.002 · Cited by 41 · see citing works

Developmental disorders caused by haploinsufficiency of transcriptional regulators: a perspective based on cell fate determination

Zug, R. (2022) · Biology Open · doi:10.1242/bio.058896 · Cited by 42 · see citing works

Ubiquitin Carboxyl-Terminal Hydrolase L3 Promotes Insulin Signaling and Adipogenesis

Suzuki, M., Setsuie, R., & Wada, K. (2009) · Endocrinology · doi:10.1210/en.2009-0332 · Cited by 38 · see citing works

Clitoromegaly in Childhood and Adolescence: Behind One Clinical Sign, a Clinical Sea

Iezzi, M. L., Lasorella, S., Varriale, G., Zagaroli, L., Ambrosi, M., & Verrottı, A. (2018) · Sexual Development · doi:10.1159/000489385 · Cited by 36 · see citing works

Mogat1 deletion does not ameliorate hepatic steatosis in lipodystrophic (Agpat2−/−) or obese (ob/ob) mice

Agarwal, A. K., Tunison, K., Dalal, J. S., Yen, C. E., Farese, R. V., Horton, J. D., & Garg, A. (2016) · Journal of Lipid Research · doi:10.1194/jlr.m065896 · Cited by 33 · see citing works

Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum

Haghighi, A., Kavehmanesh, Z., Haghighi, A., Salehzadeh, F., Santos‐Simarro, F., Maldergem, L. V., Cimbalistiene, L., Collins, F., Chopra, M., Al‐Sinani, S., et al. (2015) · Clinical Genetics · doi:10.1111/cge.12623 · Cited by 32 · see citing works

The Emergence of Adipocytes

Laharrague, P. F., & Casteilla, L. (2010) · Endocrine development · doi:10.1159/000316894 · Cited by 32 · see citing works

Loss of Mpzl3 Function Causes Various Skin Abnormalities and Greatly Reduced Adipose Depots

Leiva, A. G., Chen, A. L., Devarajan, P., Chen, Z., Damanpour, S., Hall, J. A., Bianco, A. C., Li, J., Badiavas, E. V., Zaias, J., et al. (2014) · Journal of Investigative Dermatology · doi:10.1038/jid.2014.94 · Cited by 31 · see citing works

Approach to the Patient With Lipodystrophy

Fourman, L. T., & Grinspoon, S. K. (2022) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgac079 · Cited by 35 · see citing works

Association Analyses Between Type 2 Diabetes Genes and Obesity Traits in Pigs

Du, Z., Fan, B., Zhao, X., Amoako, R., & Rothschild, M. F. (2008) · Obesity · doi:10.1038/oby.2008.557 · Cited by 29 · see citing works

The Transcriptional Effects of PCB118 and PCB153 on the Liver, Adipose Tissue, Muscle and Colon of Mice: Highlighting of Glut4 and Lipin1 as Main Target Genes for PCB Induced Metabolic Disorders

Mesnier, A., Champion, S., Louis, L., Sauzet, C., May, P., Portugal, H., Benbrahim, K., Joelle, A., Alessi, M., Amiot, M. J., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0128847 · Cited by 28 · see citing works

Seipin regulates excitatory synaptic transmission in cortical neurons

Wei, S., Soh, S. L., Qiu, W., Yang, W., Seah, C. J., Guo, J., Ong, W., Pang, Z. P., & Han, W. (2012) · Journal of Neurochemistry · doi:10.1111/jnc.12099 · Cited by 26 · see citing works

Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease

Ceccarini, G., Magno, S., Pelosini, C., Ferrari, F., Sessa, M. R., Scabia, G., Maffei, M., Jéru, I., Lascols, O., Vigouroux, C., et al. (2020) · Frontiers in Endocrinology · doi:10.3389/fendo.2020.00039 · Cited by 26 · see citing works

Lysophosphatidic acid triggers inflammation in the liver and white adipose tissue in rat models of 1-acyl-sn-glycerol-3-phosphate acyltransferase 2 deficiency and overnutrition

Sakuma, I., Gaspar, R. C., Luukkonen, P. K., Kahn, M., Zhang, D., Zhang, X., Murray, S., Golla, J. P., Vatner, D. F., Samuel, V. T., et al. (2023) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2312666120 · Cited by 25 · see citing works

Fyn Regulates Adipogenesis by Promoting PIKE-A/STAT5a Interaction

Tse, M. C. L., Liu, X., Yang, S., Ye, K., & Chan, C. B. (2013) · Molecular and Cellular Biology · doi:10.1128/mcb.01410-12 · Cited by 25 · see citing works

Coordinated and Interactive Expression of Genes of Lipid Metabolism and Inflammation in Adipose Tissue and Liver during Metabolic Overload

Liang, W., Tonini, G., Mulder, P., Kelder, T., van Erk, M., van den Hoek, A. M., Mariman, R., Wielinga, P. Y., Baccini, M., Kooistra, T., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0075290 · Cited by 25 · see citing works

Inherited lipodystrophies and the metabolic syndrome

Monajemi, H., Stroes, E. S. G., Hegele, R. A., & Fliers, E. (2007) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2007.02906.x · Cited by 25 · see citing works

Molecular mechanisms controlling human adipose tissue development: insights from monogenic lipodystrophies

Rochford, J. J. (2010) · Expert Reviews in Molecular Medicine · doi:10.1017/s1462399410001547 · Cited by 24 · see citing works

Cardiac Manifestations of Congenital Generalized Lipodystrophy

Sanon, V. P., Handelsman, Y., Pham, S. V., & CHILTON, R. J. (2016) · Clinical Diabetes · doi:10.2337/cd16-0002 · Cited by 23 · see citing works

Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family

Rahman, O. U., Khawar, N., Khan, M. A., Ahmed, J., Khattak, K., Al-Aama, J. Y., Naeem, M., & Jelani, M. (2013) · Diagnostic Pathology · doi:10.1186/1746-1596-8-78 · Cited by 22 · see citing works

Motor neuropathy‐associated mutation impairs Seipin functions in neurotransmission

Wei, S., Soh, S. L., Xia, J., Ong, W., Pang, Z. P., & Han, W. (2013) · Journal of Neurochemistry · doi:10.1111/jnc.12638 · Cited by 21 · see citing works

Clinical characteristics and efficacy of pioglitazone in a Japanese diabetic patient with an unusual type of familial partial lipodystrophy

Iwanishi, M., Ebihara, K., Kusakabe, T., Chen, W., Ito, J., Masuzaki, H., Hosoda, K., & Nakao, K. (2009) · Metabolism · doi:10.1016/j.metabol.2009.04.043 · Cited by 21 · see citing works

Role of miR-383 and miR-146b in different propensities to obesity in male mice

Xia, S., Duan, X., Cheng, X., Chen, L.-M., Kang, Y., Wang, P., Xue Ming, T. A. N. G., Shi, Y., & Le, G. (2017) · Journal of Endocrinology · doi:10.1530/joe-17-0044 · Cited by 19 · see citing works

Stromal Vascular Fraction and its Role in the Management of Alopecia: A Review.

Stefanis, A. J., Groh, T., Arenbergerová, M., Arenberger, P., & Bauer, P. O. (2019) · Europe PMC (PubMed Central) · Cited by 19 · see citing works

Adipocyte Biology from the Perspective of In Vivo Research: Review of Key Transcription Factors

Evseeva, M. N., Balashova, M. S., Kulebyakin, K. Y., & Rubtsov, Y. P. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms23010322 · Cited by 19 · see citing works

Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction

Ren, M., Shi, J., Jia, J., Guo, Y., Ni, X., & Shi, T. (2020) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-020-01383-y · Cited by 19 · see citing works

Ghrelin delays premature aging in Hutchinson‐Gilford progeria syndrome

Ferreira‐Marques, M., Carvalho, A., Franco, A. C., Leal, A., Botelho, M., Carmo‐Silva, S., Águas, R., Cortes, L., Lucas, V., Real, A. C., et al. (2023) · Aging Cell · doi:10.1111/acel.13983 · Cited by 19 · see citing works

Impact of Progerin Expression on Adipogenesis in Hutchinson—Gilford Progeria Skin-Derived Precursor Cells

Najdi, F., Krüger, P., & Djabali, K. (2021) · Cells · doi:10.3390/cells10071598 · Cited by 17 · see citing works

Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1

Haghighi, A., Razzaghy‐Azar, M., Talea, A., Sadeghian, M., Ellard, S., & Haghighi, A. (2012) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2012.07.011 · Cited by 15 · see citing works

Les lipodystrophies primitives

Capeau, J., Magré, J., Lascols, O., Caron, M., Béréziat, V., & Vigouroux, C. (2007) · Annales d Endocrinologie · doi:10.1016/j.ando.2006.12.003 · Cited by 15 · see citing works

Accelerated epigenetic aging and DNA methylation alterations in Berardinelli–Seip congenital lipodystrophy

Qannan, A., Bejaoui, Y., Izadi, M., Yousri, N. A., Razzaq, A., Christiansen, C., Martin, G. M., Bell, J. T., Horvath, S., Oshima, J., et al. (2023) · Human Molecular Genetics · doi:10.1093/hmg/ddad016 · Cited by 14 · see citing works

Human serum RNase-L level is inversely associated with metabolic syndrome and age

Wang, Y.-T., Tseng, P., Chen, C., Han, D., Chi, Y., Tseng, F., & Yang, W. (2017) · Cardiovascular Diabetology · doi:10.1186/s12933-017-0522-x · Cited by 14 · see citing works

Chapter 36 – Role of the Adipocyte in Metabolism and Endocrine Function

Ravussin, E., & Smith, S. R. (2016) · Elsevier eBooks · doi:10.1016/b978-0-323-18907-1.00036-6 · Cited by 11 · see citing works

Do you know this syndrome?

Silveira, L. M. A., Ramos, A. N., do Amaral, I. R., & Rêgo, V. R. P. D. A. (2013) · Anais Brasileiros de Dermatologia · doi:10.1590/abd1806-4841.20131965 · Cited by 13 · see citing works

Congenital generalized lipodystrophy in Taiwan

Hsu, R., Lin, W.-D., Chao, M., Hsiao, H., Wong, S.-L., Chiu, P.-C., Chu, S., Ke, Y., Lau, B.-H., Chien, Y., et al. (2018) · Journal of the Formosan Medical Association · doi:10.1016/j.jfma.2018.02.003 · Cited by 13 · see citing works

Treating young adults with type 2 diabetes or monogenic diabetes

Owen, K. R. (2016) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2016.05.002 · Cited by 12 · see citing works

Is the Adipose Tissue the Key Road to Inflammation?

Lucas, S., Verwaerde, C., & Wolowczuk, I. (2009) · Immunology and Immunogenetics Insights · doi:10.4137/iii.s2145 · Cited by 12 · see citing works

White Adipose Tissue

Gesta, S., & Kahn, C. R. (2011) · Springer eBooks · doi:10.1007/978-1-4614-0965-6_4 · Cited by 12 · see citing works

Inherited and Acquired Lipodystrophies

Simha, V., & Agarwal, A. K. (2007) · Nutrition and Health · doi:10.1007/978-1-59745-370-7_18

Human Lipodystrophy: An Update in Molecular Genetics and Possible Mechanisms of Fat Loss

Agarwal, A. K. (2014) · Humana Press eBooks · doi:10.1007/978-1-62703-770-9_15 · Cited by 1 · see citing works

Genetics of Lipodystrophies

Vigouroux, C., Bidault, G., & Capeau, J. (2013) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0024915

Insulin Resistance and Diabetes Associated with Lipodystrophies

Leiter, S. M., & Semple, R. K. (2017) · Frontiers in diabetes · doi:10.1159/000454739 · Cited by 1 · see citing works

Author manuscript, published in "Endocrine Development 2010;19:1-20" DOI: 10.1159/000316893 1. Human lipodystrophies: genetic and acquired diseases of adipose tissue

Capeau, J., Magré, J., Caron, M., Lagathu, C., Antoine, B., Béréziat, V., & Lascols, O. (2013)