| 1 | FPLD2, ITM2A
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| Itm2a silencing rescues lamin A mediated inhibition of 3T3-L1 adipocyte differentiation
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| Davies SJ, Ryan J, O'Connor PBF, Kenny E, Morris D, Baranov PV, O'Connor R, McCarthy TV.
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| Adipocyte 7 Oct 2;6(4):259-276. doi: 10.1080/21623945.2017.1362510. Epub 2017 Sep 5 2017
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| 2 | FPLD2, LMNA
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| Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations.
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| Subramanyam L, Simha V, Garg A.
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| Clin Genet 78(1):66-73. Epub 2009 Dec 22.
2010
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| 3 | FPLD2, LMNA
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| A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy.
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| 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.
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| Clin Endocrinol (Oxf) 69(1):61-8. Epub 2008 Jul 1.PMID: 18031308 2008
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| 4 | LMNA, FPLD2
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| Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).
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| Lanktree M, Cao H, Rabkin S, Hanna A, Hegele R.
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| Clin Genet 71(2):183-6. No abstract available. 2007
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| 5 | LMNA, FPLD2
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| New Metabolic Phenotypes in Laminopathies: LMNA Mutations in Patients with Severe Metabolic Syndrome.
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| Decaudain A, Vantyghem MC, Guerci B, HŽcart AC, Auclair M, Reznik Y, Narbonne H, Ducluzeau PH, Donadille B, LebbŽ C, BŽrŽziat V, Capeau J, Lascols O, Vigouroux C.
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| J Clin Endocrinol Metab 92(12):4835-44. Epub 2007 Aug 21. 2007
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| 6 | LMNA, FPLD2
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| The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy.
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| Muschke P, Kšlsch U, Jakubiczka S, Wieland I, Brune T, Wieacker P.
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| Am J Med Genet A 143(23):2810-4. 2007
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| 7 | LMNA, FPLD2
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| Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy.
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| Boguslavsky RL, Stewart CL, Worman HJ.
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| Hum Mol Genet 15(4):653-63. Epub 2006 Jan 13. 2006
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| 8 | LMNA, EMD2 , LGMD1B , CMD1A , CMT2B1 , FPLD2 , MADYS1 , PRO1 , WRN2 , RDMP2 , LDHCP , EMD3 , MCPRS
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| The laminopathies: a clinical review.
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| Rankin J, Ellard S.
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| Clin Genet 70(4):261-74. 2006
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| 9 | LMNA, EMD2, EMD3, LGMD1B, CMD1A, CMT2B1, FPLD2, MADYS1, PRO1, WRN2, RDMP2 , LDHCP, MCPRS
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| Human laminopathies: nuclei gone genetically awry.
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| Capell BC, Collins FS.
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| Nat Rev Genet 7(12):940-52. 2006
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| 10 | LMNA, PRO1, EMD2, CMD1A, FPLD2
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| LMNA mutation position predicts organ system involvement in laminopathies.
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| Hegele R.
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| Clin Genet 68(1):31-4. 2005
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| 11 | LMNA , FPLD2, EMD2
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| Effects of expressing lamin A mutant protein causing Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy in HeLa cells.
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| Bechert K, Lagos-Quintana M, Harborth J, Weber K, Osborn M.
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| Exp Cell Res 286(1):75-86. 2003
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| 12 | FPLD2, LMNA
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| Elevated serum C-reactive protein and free fatty acids among nondiabetic carriers of missense mutations in the gene encoding lamin A/C (LMNA) with partial lipodystrophy.
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| Hegele RA, Kraw ME, Ban MR, Miskie BA, Huff MW, Cao H.
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| Arterioscler Thromb Vasc Biol 23(1):111-6. 2003
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| 13 | FPLD2, LMNA, SREBF1
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| A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies.
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| Lloyd DJ, Trembath RC, Shackleton S.
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| Hum Mol Genet 11(7):769-77. 2002
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| 14 | FPLD2, LMNA, MXD1
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| Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.
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| Novelli G, Muchir A, Sangiuolo F, Helbling-Leclerc A, D'Apice MR, Massart C, Capon F, Sbraccia P, Federici M, Lauro R, Tudisco C, Pallotta R, Scarano G, Dallapiccola B, Merlini L, Bonne G.
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| Am J Hum Genet 71(2):426-31. 2002
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| 15 | FPLD2, LMNA
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| LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.
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| Shackleton S, Lloyd DJ, Jackson SN, Evans R, Niermeijer MF, Singh BM, Schmidt H, Brabant G, Kumar S, Durrington PN, Gregory S, O'Rahilly S, Trembath RC.
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| Nat Genet 24(2):153-6. 2000
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| 16 | FPLD2, LMNA
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| 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.
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| Speckman RA, Garg A, Du F, Bennett L, Veile R, Arioglu E, Taylor SI, Lovett M, Bowcock AM.
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| Am J Hum Genet 66(4):1192-8. 2000
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| 17 | FPLD2, LMNA
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| Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.
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| Cao H, Hegele RA.
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| Hum Mol Genet 9(1):109-12. 2000
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| 18 | CMD1A, EMD2, FPLD2, LGMD1B, LMNA
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| Mutations in the LMNA gene encoding lamin A/C.
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| Genschel J, Schmidt HH.
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| Hum Mutat 16(6):451-9. 2000
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| 19 | FPLD2
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| Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22.
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| Anderson JL, et al.
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| Am J Med Genet 82 : 161-165. 1999
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| 20 | FPLD2
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| Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22.
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| Peters JM, Barnes R, Bennett L, Gitomer WM, Bowcock AM, Garg A.
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| Nat Genet 18(3):292-5. 1998
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| 21 | FPLD2
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| A defect in the regional deposition of adipose tissue (partial lipodystrophy) is encoded by a gene at chromosome 1q.
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| Jackson SN, Pinkney J, Bargiotta A, Veal CD, Howlett TA, McNally PG, Corral R, Johnson A, Trembath RC.
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| Am J Hum Genet 63 : 534-540. 1998
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