| 1 | CMD1A, DUSP4, LMNA
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| Elevated dual specificity protein phosphatase 4 in cardiomyopathy caused by lamin A/C gene mutation is primarily ERK1/2-dependent and its depletion improves cardiac function and survival.
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| Choi JC, Wu W, Phillips E, Plevin R, Sera F, Homma S, Worman HJ.
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| Hum Mol Genet 27(13):2290-2305. doi: 10.1093/hmg/ddy134.
2018
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| 2 | CMD1A, EMD2, EMD3, LMNA
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| Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins.
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| Muchir A, Shan J, Bonne G, Lehnart SE, Worman HJ.
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| Hum Mol Genet 18(2):241-7. Epub 2008 Oct 16.
2009
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| 3 | CMD1A, LMNA
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| Sudden death in a patient with lamin A/C gene mutation and near normal left ventricular systolic function.
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| Fernández X, Dumont CA, Monserrat L, Hermida-Prieto M, Castro-Beiras A.
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| Int J Cardiol 126(1):136-7. Epub 2007 Apr 17.PMID: 17442430 2008
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| 4 | CMD1A, LMNA
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| Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
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| Parks SB, Kushner JD, Nauman D, Burgess D, Ludwigsen S, Peterson A, Li D, Jakobs P, Litt M, Porter CB, Rahko PS, Hershberger RE.
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| Am Heart J 156(1):161-9. Epub 2008 Mar 12.PMID: 18585512 2008
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| 5 | 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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| 6 | 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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| 7 | 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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| 8 | LMNA, CMD1A
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| In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients.
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| Sylvius N, Bilinska ZT, Veinot JP, Fidzianska A, Bolongo PM, Poon S, McKeown P, Davies RA, Chan KL, Tang AS, Dyack S, Grzybowski J, Ruzyllo W, McBride H, Tesson F.
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| J Med Genet 42(8):639-47. 2005
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| 9 | CMD1A, LMNA
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| Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.
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| Hermida-Prieto M, Monserrat L, Castro-Beiras A, Laredo R, Soler R, Peteiro J, Rodriguez E, Bouzas B, Alvarez N, Muniz J, Crespo-Leiro M.
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| Am J Cardiol 94(1):50-4. 2004
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| 10 | CMD1A, LMNA
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| Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.
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| Sebillon P, Bouchier C, Bidot LD, Bonne G, Ahamed K, Charron P, Drouin-Garraud V, Millaire A, Desrumeaux G, Benaiche A, Charniot JC, Schwartz K, Villard E, Komajda M.
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| J Med Genet 40(8):560-7. 2003
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| 11 | LMNA, CMD1A
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| Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.
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| Taylor MR, Fain PR, Sinagra G, Robinson ML, Robertson AD, Carniel E, Di Lenarda A, Bohlmeyer TJ, Ferguson DA, Brodsky GL, Boucek MM, Lascor J, Moss AC, Li WL, Stetler GL, Muntoni F, Bristow MR, Mestroni L; Familial Dilated Cardiomyopathy Registry Research Group.
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| J Am Coll Cardiol 41(5):771-80. Erratum in: J Am Coll Cardiol. 2003 Aug 6;42(3):590. 2003
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| 12 | CMD1A, LMNA
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| Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.
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| Arbustini E, Pilotto A, Repetto A, Grasso M, Negri A, Diegoli M, Campana C, Scelsi L, Baldini E, Gavazzi A, Tavazzi L.
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| J Am Coll Cardiol 39(6):981-90. 2002
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| 13 | CMD1A, LMNA
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| Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement.
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| Brodsky GL, Muntoni F, Miocic S, Sinagra G, Sewry C, Mestroni L.
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| Circulation 101(5):473-6. 2000
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| 14 | 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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| 15 | CMD1A, LMNA
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| Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System Disease.
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| Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, Atherton J, Vidaillet HJ Jr, Spudich S, De Girolami U, Seidman JG, Seidman CE, Muntoni F, Muehle G, Johnson W, McDonough B.
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| N Engl J Med 341(23):1715-1724 1999
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| 16 | CMD1A
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| A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1-1q1.
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| Kass S, MacRae C, Graber HL, Sparks EA, McNamara D, Boudoulas H, Basson CT,Baker PB 3rd, Cody RJ, Fishman MC, et al.
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| Nat Genet 7(4):546-51. 1994
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