[1]	NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A AND C). DOI=10.1038/319463a0; PubMed=3453101 [NCBI, ExPASy, EBI, Israel, Japan] McKeon F.D., Kirschner M.W., Caput D.; "Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins."; Nature 319:463-468(1986).
[2]	NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A AND C), AND PROTEIN SEQUENCE OF 583-644. PubMed=3462705 [NCBI, ExPASy, EBI, Israel, Japan] Fisher D.Z., Chaudhary N., Blobel G.; "cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins."; Proc. Natl. Acad. Sci. U.S.A. 83:6450-6454(1986).
[3]	NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS A AND C). TISSUE=Kidney, Lung, and Skin; DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan] The MGC Project Team; "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."; Genome Res. 14:2121-2127(2004).
[4]	NUCLEOTIDE SEQUENCE [MRNA] OF 375-664 (ISOFORM ADELTA10). TISSUE=Colon; DOI=10.1074/jbc.271.16.9249; PubMed=8621584 [NCBI, ExPASy, EBI, Israel, Japan] Machiels B.M., Zorenc A.H., Endert J.M., Kuijpers H.J., van Eys G.J., Ramaekers F.C., Broers J.L.; "An alternative splicing product of the lamin A/C gene lacks exon 10."; J. Biol. Chem. 271:9249-9253(1996).
[5]	IDENTIFICATION AS A RENAL CANCER ANTIGEN. TISSUE=Renal cell carcinoma; DOI=10.1002/(SICI)1097-0215(19991112)83:4<456::AID-IJC4>3.0.CO;2-5; PubMed=10508479 [NCBI, ExPASy, EBI, Israel, Japan] Scanlan M.J., Gordan J.D., Williamson B., Stockert E., Bander N.H., Jongeneel C.V., Gure A.O., Jaeger D., Jaeger E., Knuth A., Chen Y.-T., Old L.J.; "Antigens recognized by autologous antibody in patients with renal-cell carcinoma."; Int. J. Cancer 83:456-464(1999).
[6]	INTERACTION WITH NARF, AND MUTAGENESIS OF CYS-661. DOI=10.1074/jbc.274.42.30008; PubMed=10514485 [NCBI, ExPASy, EBI, Israel, Japan] Barton R.M., Worman H.J.; "Prenylated prelamin A interacts with Narf, a novel nuclear protein."; J. Biol. Chem. 274:30008-30018(1999).
[7]	INTERACTION WITH TMPO-ALPHA AND RB1. DOI=10.1091/mbc.E02-07-0450; PubMed=12475961 [NCBI, ExPASy, EBI, Israel, Japan] Markiewicz E., Dechat T., Foisner R., Quinlan R.A., Hutchison C.J.; "Lamin A/C binding protein LAP2alpha is required for nuclear anchorage of retinoblastoma protein."; Mol. Biol. Cell 13:4401-4413(2002).
[8]	PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-390; SER-392 AND SER-652, AND MASS SPECTROMETRY. TISSUE=Epithelium; DOI=10.1073/pnas.0404720101; PubMed=15302935 [NCBI, ExPASy, EBI, Israel, Japan] Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P.; "Large-scale characterization of HeLa cell nuclear phosphoproteins."; Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004).
[9]	PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-390; SER-392; SER-406; SER-407; THR-409 AND SER-423, AND MASS SPECTROMETRY. DOI=10.1021/pr050048h; PubMed=16083285 [NCBI, ExPASy, EBI, Israel, Japan] Kim J.-E., Tannenbaum S.R., White F.M.; "Global phosphoproteome of HT-29 human colon adenocarcinoma cells."; J. Proteome Res. 4:1339-1346(2005).
[10]	PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-10; THR-19; SER-22; SER-277; SER-390; SER-392 AND THR-424, AND MASS SPECTROMETRY. TISSUE=Epithelium; DOI=10.1016/j.cell.2006.09.026; PubMed=17081983 [NCBI, ExPASy, EBI, Israel, Japan] Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.; "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."; Cell 127:635-648(2006).
[11]	ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-417, AND MASS SPECTROMETRY. TISSUE=Epithelium; DOI=10.1016/j.molcel.2006.06.026; PubMed=16916647 [NCBI, ExPASy, EBI, Israel, Japan] Kim S.C., Sprung R., Chen Y., Xu Y., Ball H., Pei J., Cheng T., Kho Y., Xiao H., Xiao L., Grishin N.V., White M., Yang X.-J., Zhao Y.; "Substrate and functional diversity of lysine acetylation revealed by a proteomics survey."; Mol. Cell 23:607-618(2006).
[12]	PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-19; SER-22; SER-390; SER-392; SER-395; SER-628; SER-632 AND SER-636, AND MASS SPECTROMETRY. TISSUE=Epithelium; DOI=10.1038/nbt1240; PubMed=16964243 [NCBI, ExPASy, EBI, Israel, Japan] Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.; "A probability-based approach for high-throughput protein phosphorylation analysis and site localization."; Nat. Biotechnol. 24:1285-1292(2006).
[13]	PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-22; SER-390 AND SER-392, AND MASS SPECTROMETRY. TISSUE=Epithelium; DOI=10.1073/pnas.0507066103; PubMed=16565220 [NCBI, ExPASy, EBI, Israel, Japan] Nousiainen M., Sillje H.H.W., Sauer G., Nigg E.A., Koerner R.; "Phosphoproteome analysis of the human mitotic spindle."; Proc. Natl. Acad. Sci. U.S.A. 103:5391-5396(2006).
[14]	PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-19; SER-22; SER-390; SER-392; SER-395; SER-403; SER-404; SER-414; THR-416; SER-628 AND SER-632, AND MASS SPECTROMETRY. TISSUE=Epithelium; DOI=10.1021/pr070152u; PubMed=17924679 [NCBI, ExPASy, EBI, Israel, Japan] Yu L.-R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D.; "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra."; J. Proteome Res. 6:4150-4162(2007).
[15]	PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-22, AND MASS SPECTROMETRY. DOI=10.1073/pnas.0611217104; PubMed=17287340 [NCBI, ExPASy, EBI, Israel, Japan] Molina H., Horn D.M., Tang N., Mathivanan S., Pandey A.; "Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry."; Proc. Natl. Acad. Sci. U.S.A. 104:2199-2204(2007).
[16]	PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-22; SER-390; SER-392 AND SER-395, AND MASS SPECTROMETRY. DOI=10.2116/analsci.24.161; PubMed=18187866 [NCBI, ExPASy, EBI, Israel, Japan] Imami K., Sugiyama N., Kyono Y., Tomita M., Ishihama Y.; "Automated phosphoproteome analysis for cultured cancer cells by two-dimensional nanoLC-MS using a calcined titania/C18 biphasic column."; Anal. Sci. 24:161-166(2008).
[17]	PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-22; SER-390; SER-392 AND SER-628, AND MASS SPECTROMETRY. DOI=10.1021/pr0705441; PubMed=18220336 [NCBI, ExPASy, EBI, Israel, Japan] Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III; "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."; J. Proteome Res. 7:1346-1351(2008).
[18]	X-RAY CRYSTALLOGRAPHY (1.4 ANGSTROMS) OF 435-552. DOI=10.1074/jbc.C200038200; PubMed=11901143 [NCBI, ExPASy, EBI, Israel, Japan] Dhe-Paganon S., Werner E.D., Chi Y.I., Shoelson S.E.; "Structure of the globular tail of nuclear lamin."; J. Biol. Chem. 277:17381-17384(2002).
[19]	STRUCTURE BY NMR OF 428-549. DOI=10.1016/S0969-2126(02)00777-3; PubMed=12057196 [NCBI, ExPASy, EBI, Israel, Japan] Krimm I., Ostlund C., Gilquin B., Couprie J., Hossenlopp P., Mornon J.-P., Bonne G., Courvalin J.-C., Worman H.J., Zinn-Justin S.; "The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy."; Structure 10:811-823(2002).
[20]	X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF 305-387. DOI=10.1016/j.jmb.2004.08.093; PubMed=15476822 [NCBI, ExPASy, EBI, Israel, Japan] Strelkov S.V., Schumacher J., Burkhard P., Aebi U., Herrmann H.; "Crystal structure of the human lamin A coil 2B dimer: implications for the head-to-tail association of nuclear lamins."; J. Mol. Biol. 343:1067-1080(2004).
[21]	VARIANTS EDMD2 TRP-453; PRO-527 AND PRO-530. DOI=10.1038/6799; PubMed=10080180 [NCBI, ExPASy, EBI, Israel, Japan] Bonne G., Di Barletta M.R., Varnous S., Becane H.-M., Hammouda E.-H., Merlini L., Muntoni F., Greenberg C.R., Gary F., Urtizberea J.-A., Duboc D., Fardeau M., Toniolo D., Schwartz K.; "Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy."; Nat. Genet. 21:285-288(1999).
[22]	VARIANTS CMD1A GLY-60; ARG-85; LYS-195 AND GLY-203. DOI=10.1056/NEJM199912023412302; PubMed=10580070 [NCBI, ExPASy, EBI, Israel, Japan] Fatkin D., MacRae C., Sasaki T., Wolff M.R., Porcu M., Frenneaux M., Atherton J., Vidaillet H.J. Jr., Spudich S., De Girolami U., Seidman J.G., Seidman C.E.; "Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease."; N. Engl. J. Med. 341:1715-1724(1999).
[23]	VARIANTS FPLD2 ASP-465; GLN-482; TRP-482 AND HIS-582. DOI=10.1086/302836; PubMed=10739751 [NCBI, ExPASy, EBI, Israel, Japan] Speckman R.A., Garg A., Du F., Bennett L., Veile R., Arioglu E., Taylor S.I., Lovett M., Bowcock A.M.; "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."; Am. J. Hum. Genet. 66:1192-1198(2000).
[24]	ERRATUM. Speckman R.A., Garg A., Du F., Bennett L., Veile R., Arioglu E., Taylor S.I., Lovett M., Bowcock A.M.; Am. J. Hum. Genet. 67:775-775(2000).
[25]	VARIANTS EDMD TYR-222; GLN-249; GLN-336; TRP-453; THR-469; PRO-527 AND LYS-528. DOI=10.1086/302869; PubMed=10739764 [NCBI, ExPASy, EBI, Israel, Japan] Raffaele di Barletta M., Ricci E., Galluzzi G., Tonali P., Mora M., Morandi L., Romorini A., Voit T., Orstavik K.H., Merlini L., Trevisan C., Biancalana V., Housmanowa-Petrusewicz I., Bione S., Ricotti R., Schwartz K., Bonne G., Toniolo D.; "Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy."; Am. J. Hum. Genet. 66:1407-1412(2000).
[26]	VARIANTS EDMD CYS-45; PRO-50; SER-63; GLU-112 DEL; PRO-222; GLU-232; GLN-249; LYS-261 DEL; PRO-294; LYS-358; LYS-371; LYS-386; TRP-453; LYS-456; SER-520; PRO-527 AND LYS-528. DOI=10.1002/1531-8249(200008)48:2<170::AID-ANA6>3.3.CO;2-A; PubMed=10939567 [NCBI, ExPASy, EBI, Israel, Japan] Bonne G., Mercuri E., Muchir A., Urtizberea A., Becane H.M., Recan D., Merlini L., Wehnert M., Boor R., Reuner U., Vorgerd M., Wicklein E.M., Eymard B., Duboc D., Penisson-Besnier I., Cuisset J.M., Ferrer X., Desguerre I., Lacombe D., Bushby K., Pollitt C., Toniolo D., Fardeau M., Schwartz K., Muntoni F.; "Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene."; Ann. Neurol. 48:170-180(2000).
[27]	VARIANT FPLD2 GLN-482. DOI=10.1093/hmg/9.1.109; PubMed=10587585 [NCBI, ExPASy, EBI, Israel, Japan] Cao H., Hegele R.A.; "Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy."; Hum. Mol. Genet. 9:109-112(2000).
[28]	VARIANTS LGMD1B LYS-208 DEL AND HIS-377. DOI=10.1093/hmg/9.9.1453; PubMed=10814726 [NCBI, ExPASy, EBI, Israel, Japan] Muchir A., Bonne G., van der Kooi A.J., van Meegen M., Baas F., Bolhuis P.A., de Visser M., Schwartz K.; "Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)."; Hum. Mol. Genet. 9:1453-1459(2000).
[29]	VARIANTS FPLD LEU-482 AND TRP-482. DOI=10.1038/72807; PubMed=10655060 [NCBI, ExPASy, EBI, Israel, Japan] Shackleton S., Lloyd D.J., Jackson S.N.J., Evans R., Niermeijer M.F., Singh B.M., Schmidt H., Brabant G., Kumar S., Durrington P.N., Gregory S., O'Rahilly S., Trembath R.C.; "LMNA, encoding lamin A/C, is mutated in partial lipodystrophy."; Nat. Genet. 24:153-156(2000).
[30]	VARIANTS EDMD PRO-150 AND LYS-261 DEL. PubMed=10908904 [NCBI, ExPASy, EBI, Israel, Japan] Felice K.J., Schwartz R.C., Brown C.A., Leicher C.R., Grunnet M.L.; "Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene."; Neurology 55:275-280(2000).
[31]	VARIANTS EDMD2 PRO-25; THR-43; SER-50; PRO-133; 196-ARG--THR-199 DELINS SER; GLN-249; LYS-261 DEL; LYS-358; TRP-453; ILE-456; PRO-527 AND HIS-624. DOI=10.1002/ajmg.1463; PubMed=11503164 [NCBI, ExPASy, EBI, Israel, Japan] Brown C.A., Lanning R.W., McKinney K.Q., Salvino A.R., Cherniske E., Crowe C.A., Darras B.T., Gominak S., Greenberg C.R., Grosmann C., Heydemann P., Mendell J.R., Pober B.R., Sasaki T., Shapiro F., Simpson D.A., Suchowersky O., Spence J.E.; "Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy."; Am. J. Med. Genet. 102:359-367(2001).
[32]	VARIANT CMD1A LYS-203. DOI=10.1054/jcaf.2001.26339; PubMed=11561226 [NCBI, ExPASy, EBI, Israel, Japan] Jakobs P.M., Hanson E.L., Crispell K.A., Toy W., Keegan H., Schilling K., Icenogle T.B., Litt M., Hershberger R.E.; "Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease."; J. Card. Fail. 7:249-256(2001).
[33]	CHARACTERIZATION OF VARIANTS CMD1A GLY-60; ARG-85; LYS-195 AND GLY-203, CHARACTERIZATION OF VARIANTS EDMD LYS-358; LYS-371; LYS-386; TRP-453; SER-520; PRO-527; LYS-528 AND PRO-530, AND CHARACTERIZATION OF VARIANTS FPLD2 GLN-482; TRP-482 AND ASN-486. PubMed=11792809 [NCBI, ExPASy, EBI, Israel, Japan] Oestlund C., Bonne G., Schwartz K., Worman H.J.; "Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy."; J. Cell Sci. 114:4435-4445(2001).
[34]	VARIANT LGMD1B HIS-481. DOI=10.1016/S0960-8966(01)00207-3; PubMed=11525883 [NCBI, ExPASy, EBI, Israel, Japan] Kitaguchi T., Matsubara S., Sato M., Miyamoto K., Hirai S., Schwartz K., Bonne G.; "A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block."; Neuromuscul. Disord. 11:542-546(2001).
[35]	VARIANT CMD1A PRO-215. DOI=10.1067/mhj.2002.126737; PubMed=12486434 [NCBI, ExPASy, EBI, Israel, Japan] Hershberger R.E., Hanson E.L., Jakobs P.M., Keegan H., Coates K., Bousman S., Litt M.; "A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation."; Am. Heart J. 144:1081-1086(2002).
[36]	VARIANT CMT2B1 CYS-298. DOI=10.1086/339274; PubMed=11799477 [NCBI, ExPASy, EBI, Israel, Japan] De Sandre-Giovannoli A., Chaouch M., Kozlov S., Vallat J.-M., Tazir M., Kassouri N., Szepetowski P., Hammadouche T., Vandenberghe A., Stewart C.L., Grid D., Levy N.; "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."; Am. J. Hum. Genet. 70:726-736(2002).
[37]	ERRATUM. De Sandre-Giovannoli A., Chaouch M., Kozlov S., Vallat J.-M., Tazir M., Kassouri N., Szepetowski P., Hammadouche T., Vandenberghe A., Stewart C.L., Grid D., Levy N.; Am. J. Hum. Genet. 70:1075-1075(2002).
[38]	VARIANT MADA HIS-527. DOI=10.1086/341908; PubMed=12075506 [NCBI, ExPASy, EBI, Israel, Japan] Novelli G., Muchir A., Sangiuolo F., Helbling-Leclerc A., D'Apice M.R., Massart C., Capon F., Sbraccia P., Federici M., Lauro R., Tudisco C., Pallotta R., Scarano G., Dallapiccola B., Merlini L., Bonne G.; "Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C."; Am. J. Hum. Genet. 71:426-431(2002).
[39]	VARIANTS FPLD2 TRP-28 AND GLY-62. DOI=10.1016/S0002-9343(02)01070-7; PubMed=12015247 [NCBI, ExPASy, EBI, Israel, Japan] Garg A., Speckman R.A., Bowcock A.M.; "Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene."; Am. J. Med. 112:549-555(2002).
[40]	VARIANTS CMD1A GLU-97; TRP-190 AND LYS-317. DOI=10.1016/S0735-1097(02)01724-2; PubMed=11897440 [NCBI, ExPASy, EBI, Israel, Japan] Arbustini E., Pilotto A., Repetto A., Grasso M., Negri A., Diegoli M., Campana C., Scelsi L., Baldini E., Gavazzi A., Tavazzi L.; "Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease."; J. Am. Coll. Cardiol. 39:981-990(2002).
[41]	VARIANT EDND2 GLN-249, AND VARIANT LGMD1B LEU-377. DOI=10.1007/s100380200029; PubMed=12032588 [NCBI, ExPASy, EBI, Israel, Japan] Ki C.-S., Hong J.S., Jeong G.-Y., Ahn K.J., Choi K.-M., Kim D.-K., Kim J.-W.; "Identification of lamin A/C (LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B."; J. Hum. Genet. 47:225-228(2002).
[42]	VARIANTS FPLD2 GLY-60 AND PRO-527. PubMed=12196663 [NCBI, ExPASy, EBI, Israel, Japan] van der Kooi A.J., Bonne G., Eymard B., Duboc D., Talim B., Van der Valk M., Reiss P., Richard P., Demay L., Merlini L., Schwartz K., Busch H.F.M., de Visser M.; "Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy."; Neurology 59:620-623(2002).
[43]	VARIANT APICAL LEFT VENTRICULAR ANEURYSM CYS-541. DOI=10.1016/S1388-9842(03)00149-1; PubMed=14675861 [NCBI, ExPASy, EBI, Israel, Japan] Forissier J.-F., Bonne G., Bouchier C., Duboscq-Bidot L., Richard P., Wisnewski C., Briault S., Moraine C., Dubourg O., Schwartz K., Komajda M.; "Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation."; Eur. J. Heart Fail. 5:821-825(2003).
[44]	VARIANT CMD1A ASSOCIATED WITH QUADRICEPS MYOPATHY HIS-377. DOI=10.1002/humu.10170; PubMed=12673789 [NCBI, ExPASy, EBI, Israel, Japan] Charniot J.-C., Pascal C., Bouchier C., Sebillon P., Salama J., Duboscq-Bidot L., Peuchmaurd M., Desnos M., Artigou J.-Y., Komajda M.; "Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype."; Hum. Mutat. 21:473-481(2003).
[45]	VARIANTS CMD1A LEU-89; HIS-377 AND LEU-573. DOI=10.1016/S0735-1097(02)02954-6; PubMed=12628721 [NCBI, ExPASy, EBI, Israel, Japan] Familial dilatd cardiomyopathy registry research group; Taylor M.R.G., Fain P.R., Sinagra G., Robinson M.L., Robertson A.D., Carniel E., Di Lenarda A., Bohlmeyer T.J., Ferguson D.A., Brodsky G.L., Boucek M.M., Lascor J., Moss A.C., Li W.-L.P., Stetler G.L., Muntoni F., Bristow M.R., Mestroni L.; "Natural history of dilated cardiomyopathy due to lamin A/C gene mutations."; J. Am. Coll. Cardiol. 41:771-780(2003).
[46]	ERRATUM. Familial dilatd cardiomyopathy registry research group; Taylor M.R.G., Fain P.R., Sinagra G., Robinson M.L., Robertson A.D., Carniel E., Di Lenarda A., Bohlmeyer T.J., Ferguson D.A., Brodsky G.L., Boucek M.M., Lascor J., Moss A.C., Li W.-L.P., Stetler G.L., Muntoni F., Bristow M.R., Mestroni L.; J. Am. Coll. Cardiol. 42:590-590(2003).
[47]	VARIANT LDHCP LEU-133. DOI=10.1210/jc.2002-021506; PubMed=12629077 [NCBI, ExPASy, EBI, Israel, Japan] Caux F., Dubosclard E., Lascols O., Buendia B., Chazouilleres O., Cohen A., Courvalin J.-C., Laroche L., Capeau J., Vigouroux C., Christin-Maitre S.; "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."; J. Clin. Endocrinol. Metab. 88:1006-1013(2003).
[48]	VARIANTS HGPS CYS-471; CYS-527 AND SER-608. DOI=10.1007/s10038-003-0025-3; PubMed=12768443 [NCBI, ExPASy, EBI, Israel, Japan] Cao H., Hegele R.A.; "LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090)."; J. Hum. Genet. 48:271-274(2003).
[49]	VARIANT ATFB LYS-161. DOI=10.1136/jmg.40.8.560; PubMed=12920062 [NCBI, ExPASy, EBI, Israel, Japan] Sebillon P., Bouchier C., Bidot L.D., Bonne G., Ahamed K., Charron P., Drouin-Garraud V., Millaire A., Desrumeaux G., Benaiche A., Charniot J.-C., Schwartz K., Villard E., Komajda M.; "Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations."; J. Med. Genet. 40:560-567(2003).
[50]	VARIANTS EDMD2 GLY-25; LYS-32 DEL; VAL-35; GLU-112 DEL; PRO-248; GLN-249; CYS-267; VAL-446; TRP-453; ARG-528 AND HIS-541, VARIANT EDMD GLY-65, AND VARIANT CMD1A CYS-435. DOI=10.1136/jmg.40.12.e132; PubMed=14684700 [NCBI, ExPASy, EBI, Israel, Japan] Vytopil M., Benedetti S., Ricci E., Galluzzi G., Dello Russo A., Merlini L., Boriani G., Gallina M., Morandi L., Politano L., Moggio M., Chiveri L., Hausmanova-Petrusewicz I., Ricotti R., Vohanka S., Toman J., Toniolo D.; "Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes."; J. Med. Genet. 40:E132-E132(2003).
[51]	VARIANTS WRN PRO-57 AND ARG-140. DOI=10.1016/S0140-6736(03)14069-X; PubMed=12927431 [NCBI, ExPASy, EBI, Israel, Japan] 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., Mian I.S., Kennedy B.K., Oshima J.; "LMNA mutations in atypical Werner's syndrome."; Lancet 362:440-445(2003).
[52]	VARIANTS HGPS LYS-145 AND SER-608. DOI=10.1038/nature01629; PubMed=12714972 [NCBI, ExPASy, EBI, Israel, Japan] Eriksson M., Brown W.T., Gordon L.B., Glynn M.W., Singer J., Scott L., Erdos M.R., Robbins C.M., Moses T.Y., Berglund P., Dutra A., Pak E., Durkin S., Csoka A.B., Boehnke M., Glover T.W., Collins F.S.; "Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome."; Nature 423:293-298(2003).
[53]	VARIANTS EDMD ASN-63; PRO-140; GLN-249; LEU-377; LYS-386 AND PRO-527. DOI=10.1161/01.STR.0000064322.47667.49; PubMed=12649505 [NCBI, ExPASy, EBI, Israel, Japan] Boriani G., Gallina M., Merlini L., Bonne G., Toniolo D., Amati S., Biffi M., Martignani C., Frabetti L., Bonvicini M., Rapezzi C., Branzi A.; "Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study."; Stroke 34:901-908(2003).
[54]	VARIANTS CMD1A TRP-190 AND LEU-349. DOI=10.1016/j.amjcard.2004.03.029; PubMed=15219508 [NCBI, ExPASy, EBI, Israel, Japan] 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.; "Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations."; Am. J. Cardiol. 94:50-54(2004).
[55]	VARIANT CMD1A PRO-143. DOI=10.1016/j.ehj.2004.01.020; PubMed=15140538 [NCBI, ExPASy, EBI, Israel, Japan] Kaerkkaeinen S., Helioe T., Miettinen R., Tuomainen P., Peltola P., Rummukainen J., Ylitalo K., Kaartinen M., Kuusisto J., Toivonen L., Nieminen M.S., Laakso M., Peuhkurinen K.; "A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy."; Eur. Heart J. 25:885-893(2004).
[56]	INVOLVEMENT IN LETHAL TIGHT SKIN CONTRACTURE SYNDROME. DOI=10.1093/hmg/ddh265; PubMed=15317753 [NCBI, ExPASy, EBI, Israel, Japan] Navarro C.L., De Sandre-Giovannoli A., Bernard R., Boccaccio I., Boyer A., Genevieve D., Hadj-Rabia S., Gaudy-Marqueste C., Smitt H.S., Vabres P., Faivre L., Verloes A., Van Essen T., Flori E., Hennekam R., Beemer F.A., Laurent N., Le Merrer M., Cau P., Levy N.; "Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy."; Hum. Mol. Genet. 13:2493-2503(2004).
[57]	VARIANTS ATYPICAL PROGEROID PATIENTS ILE-10; VAL-578 AND CYS-644. DOI=10.1136/jmg.2003.015651; PubMed=15060110 [NCBI, ExPASy, EBI, Israel, Japan] Csoka A.B., Cao H., Sammak P.J., Constantinescu D., Schatten G.P., Hegele R.A.; "Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes."; J. Med. Genet. 41:304-308(2004).
[58]	VARIANT HGPS ASN-542. DOI=10.1136/jmg.2004.019661; PubMed=15286156 [NCBI, ExPASy, EBI, Israel, Japan] Plasilova M., Chattopadhyay C., Pal P., Schaub N.A., Buechner S.A., Mueller H., Miny P., Ghosh A., Heinimann K.; "Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome."; J. Med. Genet. 41:609-614(2004).
[59]	VARIANT CMT2 ASP-33, AND VARIANT EDMD GLY-33. DOI=10.1136/jmg.2003.013383; PubMed=14985400 [NCBI, ExPASy, EBI, Israel, Japan] Goizet C., Yaou R.B., Demay L., Richard P., Bouillot S., Rouanet M., Hermosilla E., Le Masson G., Lagueny A., Bonne G., Ferrer X.; "A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia."; J. Med. Genet. 41:E29-E29(2004).
[60]	VARIANT HGPS PHE-143. DOI=10.1002/ana.20359; PubMed=15622532 [NCBI, ExPASy, EBI, Israel, Japan] Kirschner J., Brune T., Wehnert M., Denecke J., Wasner C., Feuer A., Marquardt T., Ketelsen U.-P., Wieacker P., Boennemann C.G., Korinthenberg R.; "p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria."; Ann. Neurol. 57:148-151(2005).
[61]	VARIANT CMDA1 ASN-260. PubMed=16156025 [NCBI, ExPASy, EBI, Israel, Japan] Arbustini Eloisa A.E., Pilotto A., Pasotti M., Grasso M., Diegoli M., Campana C., Gavazzi A., Alessandra R., Tavazzi L.; "Gene symbol: LMNA. Disease: cardiomyopathy, dilated, with conduction defect 1."; Hum. Genet. 117:298-298(2005).
[62]	VARIANT MADA VAL-529. DOI=10.1210/jc.2004-2560; PubMed=15998779 [NCBI, ExPASy, EBI, Israel, Japan] Garg A., Cogulu O., Ozkinay F., Onay H., Agarwal A.K.; "A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia."; J. Clin. Endocrinol. Metab. 90:5259-5264(2005).
[63]	VARIANT LGMD1B HIS-377, AND VARIANTS EDMD2 ASN-63; PRO-140; GLN-190; GLN-249 AND PRO-527. DOI=10.1136/jmg.2004.026112; PubMed=15744034 [NCBI, ExPASy, EBI, Israel, Japan] Cenni V., Sabatelli P., Mattioli E., Marmiroli S., Capanni C., Ognibene A., Squarzoni S., Maraldi N.M., Bonne G., Columbaro M., Merlini L., Lattanzi G.; "Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy."; J. Med. Genet. 42:214-220(2005).
[64]	VARIANTS CMD1A TRP-190; GLY-192 AND SER-541, AND CHARACTERIZATION OF VARIANTS CMD1A GLY-192 AND SER-541. DOI=10.1136/jmg.2004.023283; PubMed=16061563 [NCBI, ExPASy, EBI, Israel, Japan] Sylvius N., Bilinska Z.T., Veinot J.P., Fidzianska A., Bolongo P.M., Poon S., McKeown P., Davies R.A., Chan K.-L., Tang A.S.L., Dyack S., Grzybowski J., Ruzyllo W., McBride H., Tesson F.; "In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients."; J. Med. Genet. 42:639-647(2005).
[65]	VARIANT TCAPF LEU-573. DOI=10.1210/jc.2005-1297; PubMed=16278265 [NCBI, ExPASy, EBI, Israel, Japan] Van Esch H., Agarwal A.K., Debeer P., Fryns J.-P., Garg A.; "A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features."; J. Clin. Endocrinol. Metab. 91:517-521(2006).
[66]	VARIANTS FPLD2 ASN-230; CYS-399 AND LEU-573. DOI=10.1111/j.1399-0004.2007.00740.x; PubMed=17250669 [NCBI, ExPASy, EBI, Israel, Japan] Lanktree M., Cao H., Rabkin S.W., Hanna A., Hegele R.A.; "Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660)."; Clin. Genet. 71:183-186(2007).
[67]	VARIANT LGMD1B HIS-377. DOI=10.1007/s10048-006-0070-0; PubMed=17136397 [NCBI, ExPASy, EBI, Israel, Japan] Rudnik-Schoeneborn S., Botzenhart E., Eggermann T., Senderek J., Schoser B.G.H., Schroeder R., Wehnert M., Wirth B., Zerres K.; "Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy."; Neurogenetics 8:137-142(2007).

Comments

FUNCTION: Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin. Lamin A and C are present in equal amounts in the lamina of mammals.
SUBUNIT: Homodimer of lamin A and lamin C. Interacts with lamin-associated polypeptides IA, IB and TMPO-alpha, RB1 and with emerin. Interacts with SREBF1 and SREBF2. Proteolytically processed isoform A interacts with NARF.
INTERACTION:
P18054:ALOX12; NbExp=3; IntAct=EBI-351935, EBI-1633210;
SUBCELLULAR LOCATION: Nucleus.

ALTERNATIVE PRODUCTS: 3 named isoforms [FASTA] produced by alternative splicing.

Name	A
Synonyms	Lamin A
Isoform ID	P02545-1
This is the isoform sequence displayed in this entry.

Name	C
Synonyms	Lamin C
Isoform ID	P02545-2
Features which should be applied to build the isoform sequence: VSP_002469, VSP_002470.

Name	ADelta10
Synonyms	Lamin ADelta10
Isoform ID	P02545-3
Features which should be applied to build the isoform sequence: VSP_002468.

PTM: Increased phosphorylation of the lamins occurs before envelope disintegration and probably plays a role in regulating lamin associations.
PTM: The C-terminal 18 residues are removed by proteolytic cleavage in isoform A. Proteolytic cleavage requires prior farnesylation and absence of farnesylation blocks cleavage (By similarity).
DISEASE: Defects in LMNA are a cause of Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]. EDMD2 is an autosomal dominant disorder characterized by slowly progressive muscle wasting and weakness, early contractures of the elbows Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.
DISEASE: Defects in LMNA are a cause of Emery-Dreifuss muscular dystrophy type 3 (EDMD3) [MIM:604929]. EDMD3 is an autosomal recessive disorder characterized by early contractures, muscle wasting and weakness and cardiomyopathy.
DISEASE: Defects in LMNA are the cause of cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
DISEASE: Defects in LMNA are the cause of cardiomyopathy dilated with quadriceps myopathy (CMDQM) [MIM:607920]. CMDQM is a severe dilated cardiomyopathy with conduction defects or atrial/ventricular arrhythmias, associated with quadriceps muscle myopathy. Cardiac involvement precedes neuromuscular disease.
DISEASE: Defects in LMNA are a cause of generalized lipoatrophy associated with diabetes, hepatic steatosis, hypertrophic cardiomyopathy and leukomelanodermic papules (LDHCP) [MIM:608056]. LDHCP is a disorder characterized by acquired generalized lipoatrophy with metabolic alterations, massive liver steatosis, distinctive cutaneous manifestations, and cardiac abnormalities involving both endocardium and myocardium.
DISEASE: Defects in LMNA are a cause of familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]; also known as familial partial lipodystrophy Dunnigan type. FPLD2 is an autosomal dominant disorder characterized by marked loss of subcutaneous adipose tissue from the extremities and trunk but by excess fat deposition in the head and neck. Frequently associated with profound insulin resistance, dyslipidemia, and diabetes.
DISEASE: Defects in LMNA are the cause of limb-girdle muscular dystrophy type 1B (LGMD1B) [MIM:159001].LGMD1B is an autosomal dominant degenerative myopathy with age-related atrioventricular cardiac conduction disturbances and the absence of early contractures. LGMD1B is characterized by slowly progressive skeletal muscle weakness of the hip and shoulder girdles. Muscle biopsy shows mild dystrophic changes.
DISEASE: Defects in LMNA are the cause of Charcot-Marie-Tooth disease type 2B1 (CMT2B1) [MIM:605588]. CMT2B1 is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT2 group are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2B1 inheritance is autosomal recessive.
DISEASE: Defects in LMNA are the cause of Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]. HGPS is a rare genetic disorder characterized by features reminiscent of marked premature aging.
DISEASE: Defects in LMNA are a cause of familial atrial fibrillation (ATFB) [MIM:607554]. Atrial fibrillation is a cardiac arrhythmia characterized by rapid and irregular activation of the atrium. It causes thromboembolism, tachycardia-mediated cardiomyopathy and heart failure.
DISEASE: Defects in LMNA are a cause of Werner syndrome (WRN) [MIM:277700]. WRN is an autosomal, recessively inherited, segmental progeroid syndrome, in which multiple aspects (or segments) of aging phenotypes seem to be entailed. The features of Werner syndrome are scleroderma-like skin changes, especially in the extremities, cataract, subcutaneous calcification, premature arteriosclerosis, diabetes mellitus, and a wizened and prematurely aged facies.
DISEASE: Defects in LMNA are the cause of mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370]. Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, joint contractures, and types A or B patterns of lipodystrophy. Type A lipodystrophy observed in MADA, is characterized by fat loss restricted to the extremities.
DISEASE: Defects in LMNA are a cause of lethal tight skin contracture syndrome [MIM:275210]; also called restrictive dermopathy (RD). Lethal tight skin contracture syndrome is a rare disorder mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial features (small mouth, small pinched nose and micrognathia), sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course. Liveborn children usually die within the first week of life. The overall prevalence of consanguineous cases suggested an autosomal recessive inheritance.
DISEASE: Defects in LMNA are a cause of tendinous calcinosis arthropathy and progeroid features (TCAPF) [MIM:611618]. This disorder consists of an autosomal recessive arthropathy syndrome affecting predominantly the distal femora and proximal tibia in the knee