| 1 | EMD, LMNA, SUN1, SUN2, SYNE1
|
| Spatiotemporal Mislocalization of Nuclear Membrane-Associated Proteins in γ-Irradiation-Induced Senescent Cells.
|
| Alena SK, Eva B, Ale K, Emilie L.
|
| Cells 9(4). pii: E999. doi: 10.3390/cells9040999.
2020
|
| 2 | BCL2L12, EMD, KLK10, LMNA, MYO1C, SMAD2
|
| Lamin A/C and Emerin depletion impacts chromatin organization and dynamics in the interphase nucleus.
|
| Ranade D, Pradhan R, Jayakrishnan M, Hegde S, Sengupta K.
|
| BMC Mol Cell Biol 20(1):11. doi: 10.1186/s12860-019-0192-5.
2019
|
| 3 | EMD2, LMNA
|
| Effect of genetic background on the cardiac phenotype in a mouse model of Emery-Dreifuss muscular dystrophy.
|
| Vignier N, Mougenot N, Bonne G, Muchir A.
|
| Biochem Biophys Rep 19:100664. doi: 10.1016/j.bbrep.2019.100664. eCollection 2019 Sep.
2019
|
| 4 | CMD1A, DUSP4, LMNA
|
| 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.
|
| Choi JC, Wu W, Phillips E, Plevin R, Sera F, Homma S, Worman HJ.
|
| Hum Mol Genet 27(13):2290-2305. doi: 10.1093/hmg/ddy134.
2018
|
| 5 | BANF1, EMD, LMNA
|
| Structural analysis of the ternary complex between lamin A/C, BAF and emerin identifies an interface disrupted in autosomal recessive progeroid diseases.
|
| Samson C, Petitalot A, Celli F, Herrada I, Ropars V, Le Du MH, Nhiri N, Jacquet E, Arteni AA, Buendia B, Zinn-Justin S.
|
| Nucleic Acids Res 46(19):10460-10473. doi: 10.1093/nar/gky736.
2018
|
| 6 | CNOT1, LMNA
|
| CNOT1 cooperates with LMNA to aggravate osteosarcoma tumorigenesis through the Hedgehog signaling pathway.
|
| Cheng DD, Li J, Li SJ, Yang QC, Fan CY.
|
| Mol Oncol 11(4):388-404. doi: 10.1002/1878-0261.12043. Epub 2017 Mar 6.
2017
|
| 7 | LAMB1, LMNA, TMPO
|
| A-type lamins bind both hetero- and euchromatin, the latter being regulated by lamina-associated polypeptide 2 alpha.
|
| Gesson K, Rescheneder P, Skoruppa MP, von Haeseler A, Dechat T, Foisner R.
|
| Genome Res 26(4):462-73. doi: 10.1101/gr.196220.115. Epub 2016 Jan 21.
2016
|
| 8 | LMNA, LMNB1, LMNB2
|
| Physiological and Pathological Aging Affects Chromatin Dynamics, Structure and Function at the Nuclear Edge.
|
| Robin JD, Magdinier F.
|
| Front Genet 7:153. doi: 10.3389/fgene.2016.00153. eCollection 2016. Review.
2016
|
| 9 | LMNA, RB1, SENP1
|
| SENP1-modulated sumoylation regulates retinoblastoma protein (RB) and Lamin A/C interaction and stabilization.
|
| Sharma P, Kuehn MR.
|
| Oncogene 35(50):6429-6438. doi: 10.1038/onc.2016.177. Epub 2016 Jun 6.
2016
|
| 10 | BANF1, LMNA, TMPO
|
| The lamin-A/C-LAP2α-BAF1 protein complex regulates mitotic spindle assembly and positioning.
|
| Qi R, Xu N, Wang G, Ren H, Li S, Lei J, Lin Q, Wang L, Gu X, Zhang H, Jiang Q, Zhang C.
|
| J Cell Sci 128(15):2830-41. doi: 10.1242/jcs.164566. Epub 2015 Jun 19.
2015
|
| 11 | LMNA, TMPO
|
| All-trans retinoic acid and rapamycin normalize Hutchinson Gilford progeria fibroblast phenotype.
|
| Pellegrini C, Columbaro M, Capanni C, D'Apice MR, Cavallo C, Murdocca M, Lattanzi G, Squarzoni S.
|
| Oncotarget 6(30):29914-28. doi: 10.18632/oncotarget.4939.
2015
|
| 12 | LMNA, PRO1, TMPO
|
| Progerin reduces LAP2α-telomere association in Hutchinson-Gilford progeria.
|
| Chojnowski A, Ong PF, Wong ES, Lim JS, Mutalif RA, Navasankari R, Dutta B, Yang H, Liow YY, Sze SK, Boudier T, Wright GD, Colman A, Burke B, Stewart CL, Dreesen O.
|
| Elife 4. doi: 10.7554/eLife.07759.
2015
|
| 13 | LMNA, TMPO
|
| Loss of lamin A function increases chromatin dynamics in the nuclear interior.
|
| Bronshtein I, Kepten E, Kanter I, Berezin S, Lindner M, Redwood AB, Mai S, Gonzalo S, Foisner R, Shav-Tal Y, Garini Y.
|
| Nat Commun 6:8044. doi: 10.1038/ncomms9044.
2015
|
| 14 | LMNA
|
| Phosphorylation of lamins determine their structural properties and signaling functions.
|
| Torvaldson E, Kochin V, Eriksson JE.
|
| Nucleus 6(3):166-71. doi: 10.1080/19491034.2015.1017167. Epub 2015 Mar 20.
2015
|
| 15 | LMNA, LMNB1
|
| Autophagy-mediated degradation of nuclear envelope proteins during oncogene-induced senescence.
|
| Lenain C, Gusyatiner O, Douma S, van den Broek B, Peeper DS.
|
| Carcinogenesis 36(11):1263-74. doi: 10.1093/carcin/bgv124. Epub 2015 Sep 8.
2015
|
| 16 | FXR1, LMNA
|
| Deregulation of Fragile X-related protein 1 by the lipodystrophic lamin A p.R482W mutation elicits a myogenic gene expression program in preadipocytes.
|
| Oldenburg AR, Delbarre E, Thiede B, Vigouroux C, Collas P.
|
| Hum Mol Genet 23(5):1151-62. doi: 10.1093/hmg/ddt509. Epub 2013 Oct 9.
2014
|
| 17 | LMNA
|
| Nuclear structures surrounding internal lamin invaginations.
|
| Legartová S, Stixová L, Laur O, Kozubek S, Sehnalová P, Bártová E.
|
| J Cell Biochem 115(3):476-87. doi: 10.1002/jcb.24681.
2014
|
| 18 | LMNA, PRO1, SUN1
|
| Dysregulated interactions between lamin A and SUN1 induce abnormalities in the nuclear envelope and endoplasmic reticulum in progeric laminopathies.
|
| Chen ZJ, Wang WP, Chen YC, Wang JY, Lin WH, Tai LA, Liou GG, Yang CS, Chi YH.
|
| J Cell Sci 127(Pt 8):1792-804. doi: 10.1242/jcs.139683. Epub 2014 Feb 12.
2014
|
| 19 | AKT1, LMNA
|
| The protein kinase Akt/PKB regulates both prelamin A degradation and Lmna gene expression.
|
| Bertacchini J, Beretti F, Cenni V, Guida M, Gibellini F, Mediani L, Marin O, Maraldi NM, de Pol A, Lattanzi G, Cocco L, Marmiroli S.
|
| FASEB J ASEB J. 2013 Feb 21. [Epub ahead of print]
2013
|
| 20 | LMNA
|
| Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling.
|
| Zwerger M, Jaalouk DE, Lombardi ML, Isermann P, Mauermann M, Dialynas G, Herrmann H, Wallrath LL, Lammerding J.
|
| Hum Mol Genet um Mol Genet. 2013 Feb 19. [Epub ahead of print]
2013
|
| 21 | LBR, LMNA
|
| LBR and Lamin A/C Sequentially Tether Peripheral Heterochromatin and Inversely Regulate Differentiation.
|
| Solovei I, Wang AS, Thanisch K, Schmidt CS, Krebs S, Zwerger M, Cohen TV, Devys D, Foisner R, Peichl L, Herrmann H, Blum H, Engelkamp D, Stewart CL, Leonhardt H, Joffe B.
|
| Cell 152(3):584-98. doi: 10.1016/j.cell.2013.01.009.
2013
|
| 22 | CIAO2B, LMNA
|
| Identification of FAM96B as a novel prelamin A binding partner.
|
| Xiong XD, Wang J, Zheng H, Jing X, Liu Z, Zhou Z, Liu X.
|
| Biochem Biophys Res Commun 440(1):20-4. doi: 10.1016/j.bbrc.2013.08.099. Epub 2013 Sep 13. 2013
|
| 23 | LMNA, SUMO1
|
| Lamin A tail modification by SUMO1 is disrupted by familial partial lipodystrophy-causing mutations.
|
| Simon DN, Domaradzki T, Hofmann WA, Wilson KL.
|
| Mol Biol Cell 24(3):342-50. doi: 10.1091/mbc.E12-07-0527. Epub 2012 Dec 14.
2013
|
| 24 | LMNA, PRO1, TPR
|
| Defective nuclear import of Tpr in Progeria reflects the Ran sensitivity of large cargo transport.
|
| Snow CJ, Dar A, Dutta A, Kehlenbach RH, Paschal BM.
|
| J Cell Biol 201(4):541-57. doi: 10.1083/jcb.201212117. Epub 2013 May 6.
2013
|
| 25 | LMNA
|
| DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death.
|
| Bertrand AT, Renou L, Papadopoulos A, Beuvin M, Lacčne E, Massart C, Ottolenghi C, Decostre V, Maron S, Schlossarek S, Cattin ME, Carrier L, Malissen M, Arimura T, Bonne G.
|
| Hum Mol Genet 21(5):1037-48. Epub 2011 Nov 16.
2012
|
| 26 | LMNA, PRO1
|
| Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome.
|
| Gordon LB, Kleinman ME, Miller DT, Neuberg DS, Giobbie-Hurder A, Gerhard-Herman M, Smoot LB, Gordon CM, Cleveland R, Snyder BD, Fligor B, Bishop WR, Statkevich P, Regen A, Sonis A, Riley S, Ploski C, Correia A, Quinn N, Ullrich NJ, Nazarian A, Liang MG, Huh SY, Schwartzman A, Kieran MW.
|
| Proc Natl Acad Sci U S A 109(41):16666-71. doi: 10.1073/pnas.1202529109. Epub 2012 Sep 24.
2012
|
| 27 | LMNA
|
| Nuclear damages and oxidative stress: new perspectives for laminopathies.
|
| Lattanzi G, Marmiroli S, Facchini A, Maraldi NM.
|
| Eur J Histochem 56(4):e45. doi: 10.4081/ejh.2012.e45.
2012
|
| 28 | LMNA
|
| Cardiomyocyte-specific expression of lamin a improves cardiac function in Lmna-/- mice.
|
| Frock RL, Chen SC, Da DF, Frett E, Lau C, Brown C, Pak DN, Wang Y, Muchir A, Worman HJ, Santana LF, Ladiges WC, Rabinovitch PS, Kennedy BK.
|
| PLoS One 7(8):e42918. doi: 10.1371/journal.pone.0042918. Epub 2012 Aug 15.
2012
|
| 29 | LMNA, PRO1
|
| Expression of the Hutchinson-Gilford progeria mutation during osteoblast development results in loss of osteocytes, irregular mineralization, and poor biomechanical properties.
|
| Schmidt E, Nilsson O, Koskela A, Tuukkanen J, Ohlsson C, Rozell B, Eriksson M.
|
| J Biol Chem 287(40):33512-22. Epub 2012 Aug 14.
2012
|
| 30 | LMNA
|
| Cardiac involvement in patients with lamin A/C gene mutations: a cohort observation.
|
| Carboni N, Sardu C, Cocco E, Marrosu G, Manzi RC, Nissardi V, Isola F, Mateddu A, Solla E, Maioli MA, Oppo V, Piras R, Coghe G, Lai C, Marrosu MG.
|
| Muscle Nerve 46(2):187-92. doi: 10.1002/mus.23294.
2012
|
| 31 | LMNA
|
| Human longevity and common variations in the LMNA gene: a meta-analysis.
|
| Conneely KN, Capell BC, Erdos MR, Sebastiani P, Solovieff N, Swift AJ, Baldwin CT, Budagov T, Barzilai N, Atzmon G, Puca AA, Perls TT, Geesaman BJ, Boehnke M, Collins FS.
|
| Aging Cell 11(3):475-81. doi: 10.1111/j.1474-9726.2012.00808.x. Epub 2012 Mar 27.
2012
|
| 32 | LMNA
|
| Perturbation of nuclear lamin A causes cell death in chondrocytes.
|
| Attur M, Ben-Artzi A, Yang Q, Al-Mussawir HE, Worman HJ, Palmer G, Abramson SB.
|
| Arthritis Rheum 64(6):1940-9. doi: 10.1002/art.34360. Epub 2012 Jan 9.
2012
|
| 33 | LMNA
|
| LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle.
|
| Dialynas G, Flannery KM, Zirbel LN, Nagy PL, Mathews KD, Moore SA, Wallrath LL.
|
| Hum Mol Genet 21(7):1544-56. doi: 10.1093/hmg/ddr592. Epub 2011 Dec 20.
2012
|
| 34 | LMNA, PRO1, SUN1
|
| Accumulation of the inner nuclear envelope protein Sun1 is pathogenic in progeric and dystrophic laminopathies.
|
| Chen CY, Chi YH, Mutalif RA, Starost MF, Myers TG, Anderson SA, Stewart CL, Jeang KT.
|
| Cell 149(3):565-77. doi: 10.1016/j.cell.2012.01.059.
2012
|
| 35 | BANF1, LMNA
|
| Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution.
|
| Capanni C, Squarzoni S, Cenni V, D'Apice MR, Gambineri A, Novelli G, Wehnert M, Pasquali R, Maraldi NM, Lattanzi G.
|
| Cell Cycle 11(19):3568-77. doi: 10.4161/cc.21869. Epub 2012 Aug 30.
2012
|
| 36 | LMNA, PRO1
|
| Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn.
|
| Reunert J, Wentzell R, Walter M, Jakubiczka S, Zenker M, Brune T, Rust S, Marquardt T.
|
| Eur J Hum Genet 20(9):933-7. doi: 10.1038/ejhg.2012.36.
2012
|
| 37 | DUSP4, LMNA
|
| Dual specificity phosphatase 4 mediates cardiomyopathy caused by lamin A/C (LMNA) gene mutation.
|
| Choi JC, Wu W, Muchir A, Iwata S, Homma S, Worman HJ.
|
| J Biol Chem 287(48):40513-24. doi: 10.1074/jbc.M112.404541. Epub 2012 Oct 9.
2012
|
| 38 | LMNA
|
| DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death.
|
| Bertrand AT, Renou L, Papadopoulos A, Beuvin M, Lacčne E, Massart C, Ottolenghi C, Decostre V, Maron S, Schlossarek S, Cattin ME, Carrier L, Malissen M, Arimura T, Bonne G.
|
| Hum Mol Genet 21(5):1037-48. doi: 10.1093/hmg/ddr534. Epub 2011 Nov 16.
2012
|
| 39 | LMNA, SUN2, TMEM201
|
| Samp1 is a component of TAN lines and is required for nuclear movement.
|
| Borrego-Pinto J, Jegou T, Osorio DS, Auradé F, Gorjánácz M, Koch B, Mattaj IW, Gomes ER.
|
| J Cell Sci 125(Pt 5):1099-105. doi: 10.1242/jcs.087049. Epub 2012 Feb 20.
2012
|
| 40 | LMNA
|
| Lamin A variants that cause striated muscle disease are defective in anchoring transmembrane actin-associated nuclear lines for nuclear movement.
|
| Folker ES, Ostlund C, Luxton GW, Worman HJ, Gundersen GG.
|
| Proc Natl Acad Sci U S A 108(1):131-6. Epub 2010 Dec 20.
2011
|
| 41 | EMD2, EMD3, LMNA
|
| Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
|
| Scharner J, Brown CA, Bower M, Iannaccone ST, Khatri IA, Escolar D, Gordon E, Felice K, Crowe CA, Grosmann C, Meriggioli MN, Asamoah A, Gordon O, Gnocchi VF, Ellis JA, Mendell JR, Zammit PS.
|
| Hum Mutat 32(2):152-67. doi: 10.1002/humu.21361. Epub 2011 Jan 25. 2011
|
| 42 | LMNA, NUP88
|
| The nucleoporin Nup88 is interacting with nuclear lamin A.
|
| Lussi YC, Hügi I, Laurell E, Kutay U, Fahrenkrog B.
|
| Mol Biol Cell 22(7):1080-90. Epub 2011 Feb 2. 2011
|
| 43 | LMNA, MLIP
|
| Identification of a novel muscle A-type lamin-interacting protein (MLIP).
|
| Ahmady E, Deeke SA, Rabaa S, Kouri L, Kenney L, Stewart AF, Burgon PG.
|
| J Biol Chem 286(22):19702-13. Epub 2011 Apr 15.
2011
|
| 44 | LMNA
|
| A dual role for A-type lamins in DNA double-strand break repair.
|
| Redwood AB, Perkins SM, Vanderwaal RP, Feng Z, Biehl KJ, Gonzalez-Suarez I, Morgado-Palacin L, Shi W, Sage J, Roti-Roti JL, Stewart CL, Zhang J, Gonzalo S.
|
| Cell Cycle 10(15):2549-60. Epub 2011 Aug 1.
2011
|
| 45 | LMNA, PRO1
|
| The defective nuclear lamina in Hutchinson-gilford progeria syndrome disrupts the nucleocytoplasmic Ran gradient and inhibits nuclear localization of Ubc9.
|
| Kelley JB, Datta S, Snow CJ, Chatterjee M, Ni L, Spencer A, Yang CS, Cubeńas-Potts C, Matunis MJ, Paschal BM.
|
| Mol Cell Biol 31(16):3378-95. Epub 2011 Jun 13.
2011
|
| 46 | LMNA
|
| Inflammatory changes in infantile-onset LMNA-associated myopathy.
|
| Komaki H, Hayashi YK, Tsuburaya R, Sugie K, Kato M, Nagai T, Imataka G, Suzuki S, Saitoh S, Asahina N, Honke K, Higuchi Y, Sakuma H, Saito Y, Nakagawa E, Sugai K, Sasaki M, Nonaka I, Nishino I.
|
| Neuromuscul Disord 21(8):563-8. doi: 10.1016/j.nmd.2011.04.010. Epub 2011 May 31.
2011
|
| 47 | LMNA
|
| High prevalence of laminopathies among patients with metabolic syndrome.
|
| Dutour A, Roll P, Gaborit B, Courrier S, Alessi MC, Tregouet DA, Angelis F, Robaglia-Schlupp A, Lesavre N, Cau P, Lévy N, Badens C, Morange PE.
|
| Hum Mol Genet 20(19):3779-86. Epub 2011 Jun 30.
2011
|
| 48 | LMNA, PRO1
|
| A conserved splicing mechanism of the LMNA gene controls premature aging.
|
| Lopez-Mejia IC, Vautrot V, De Toledo M, Behm-Ansmant I, Bourgeois CF, Navarro CL, Osorio FG, Freije JM, Stévenin J, De Sandre-Giovannoli A, Lopez-Otin C, Lévy N, Branlant C, Tazi J.
|
| Hum Mol Genet 20(23):4540-55. doi: 10.1093/hmg/ddr385. Epub 2011 Aug 29.
2011
|
| 49 | LAMB2, LMNA, TMPO
|
| Laminopathies and lamin-associated signaling pathways.
|
| Maraldi NM, Capanni C, Cenni V, Fini M, Lattanzi G.
|
| J Cell Biochem 112(4):979-92. doi: 10.1002/jcb.22992. Review.
2011
|
| 50 | LMNA
|
| Loss of a DNA binding site within the tail of prelamin A contributes to altered heterochromatin anchorage by progerin.
|
| Bruston F, Delbarre E, Ostlund C, Worman HJ, Buendia B, Duband-Goulet I.
|
| FEBS Lett 584(14):2999-3004. Epub 2010 May 24.
2010
|
| 51 | EMD2, EMD3, LMNA
|
| Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
|
| Scharner J, Brown CA, Bower M, Iannaccone ST, Khatri IA, Escolar D, Gordon E, Felice K, Crowe CA, Grosmann C, Meriggioli MN, Asamoah A, Gordon O, Gnocchi VF, Ellis JA, Mendell JR, Zammit PS.
|
| Hum Mutat um Mutat. 2010 Sep 16. [Epub ahead of print]PMID: 20848652 2010
|
| 52 | LMNA, PRO1
|
| Defective lamin A-Rb signaling in Hutchinson-Gilford Progeria Syndrome and reversal by farnesyltransferase inhibition.
|
| Marji J, O'Donoghue SI, McClintock D, Satagopam VP, Schneider R, Ratner D, Worman HJ, Gordon LB, Djabali K.
|
| PLoS One 5(6):e11132.PMID: 20559568 2010
|
| 53 | LMNA, MADYS1
|
| Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.
|
| Ahmad Z, Zackai E, Medne L, Garg A.
|
| Am J Med Genet A m J Med Genet A. 2010 Sep 2. [Epub ahead of print]PMID: 20814950 2010
|
| 54 | LMNA, RDMP2
|
| Autosomal recessive LMNA mutation causing Restrictive Dermopathy.
|
| Youn GJ, Uzunyan M, Vachon L, Johnson J, Winder TL, Yano S.
|
| Clin Genet 78(2):199-200. No abstract available. PMID: 20662858 2010
|
| 55 | FPLD2, LMNA
|
| Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations.
|
| Subramanyam L, Simha V, Garg A.
|
| Clin Genet 78(1):66-73. Epub 2009 Dec 22.
2010
|
| 56 | CMD1A, EMD2, EMD3, LMNA
|
| Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins.
|
| Muchir A, Shan J, Bonne G, Lehnart SE, Worman HJ.
|
| Hum Mol Genet 18(2):241-7. Epub 2008 Oct 16.
2009
|
| 57 | C19orf46, EDMD2, EDMD3, LMNA, SUN1, SUN2, SYNE1, SYNE2, SYNE3
|
| Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice.
|
| Puckelwartz MJ, Kessler E, Zhang Y, Hodzic D, Randles KN, Morris G, Earley JU, Hadhazy M, Holaska JM, Mewborn SK, Pytel P, McNally EM.
|
| Hum Mol Genet 18(4):607-20. Epub 2008 Nov 13. 2009
|
| 58 | CTCF, D4Z4, LMNA
|
| The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy.
|
| Ottaviani A, Rival-Gervier S, Boussouar A, Foerster AM, Rondier D, Sacconi S, Desnuelle C, Gilson E, Magdinier F.
|
| PLoS Genet 5(2):e1000394. Epub 2009 Feb 27.
2009
|
| 59 | LMNA, PRO1
|
| Activating the synthesis of progerin, the mutant prelamin A in Hutchinson-Gilford progeria syndrome, with antisense oligonucleotides.
|
| Fong LG, Vickers TA, Farber EA, Choi C, Yun UJ, Hu Y, Yang SH, Coffinier C, Lee R, Yin L, Davies BS, Andres DA, Spielmann HP, Bennett CF, Young SG.
|
| Hum Mol Genet 18(13):2462-71. Epub 2009 Apr 17.
2009
|
| 60 | LMNA, PRO1
|
| ncreased expression of the Hutchinson-Gilford progeria syndrome truncated lamin A transcript during cell aging.
|
| Rodriguez S, Coppedč F, Sagelius H, Eriksson M.
|
| Eur J Hum Genet 17(7):928-37. Epub 2009 Jan 28.
2009
|
| 61 | LMNA, PRO1
|
| A progeria mutation reveals functions for lamin A in nuclear assembly, architecture, and chromosome organization.
|
| Taimen P, Pfleghaar K, Shimi T, Möller D, Ben-Harush K, Erdos MR, Adam SA, Herrmann H, Medalia O, Collins FS, Goldman AE, Goldman RD.
|
| Proc Natl Acad Sci U S A roc Natl Acad Sci U S A. 2009 Nov 19. [Epub ahead of print]PMID: 19926845 2009
|
| 62 | LMNA, RDMP2
|
| Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation.
|
| Madej-Pilarczyk A, Rosińska-Borkowska D, Rekawek J, Marchel M, Szaluś E, Jabłońska S, Hausmanowa-Petrusewicz I.
|
| Am J Med Genet A 149A(11):2387-92.PMID: 19842191 2009
|
| 63 | EMD, LMNA
|
| Emerin-prelamin A interplay in human fibroblasts.
|
| Capanni C, Del Coco R, Mattioli E, Camozzi D, Columbaro M, Schena E, Merlini L, Squarzoni S, Maraldi NM, Lattanzi G.
|
| Biol Cell 101(9):541-54.PMID: 19323649 2009
|
| 64 | EMD, LMNA
|
| Reduced expression of A-type lamins and emerin activates extracellular signal-regulated kinase in cultured cells.
|
| Muchir A, Wu W, Worman HJ.
|
| Biochim Biophys Acta 1792(1):75-81. Epub 2008 Nov 5.PMID: 19022376 2009
|
| 65 | LMNA
|
| Accelerated features of age-related bone loss in zmpste24 metalloproteinase-deficient mice.
|
| Rivas D, Li W, Akter R, Henderson JE, Duque G.
|
| J Gerontol A Biol Sci Med Sci 64(10):1015-24. Epub 2009 Jul 8.PMID: 19587107 2009
|
| 66 | LMNA, TMPO
|
| Lamin complexes in the nuclear interior control progenitor cell proliferation and tissue homeostasis.
|
| Naetar N, Foisner R.
|
| Cell Cycle 8(10):1488-93. Epub 2009 May 20.
2009
|
| 67 | LMNA, MADYS1
|
| Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy.
|
| Zirn B, Kress W, Grimm T, Berthold LD, Neubauer B, Kuchelmeister K, Mller U, Hahn A.
|
| Am J Med Genet A 146A(8):1049-54. 2008
|
| 68 | LMNA, PRO1
|
| Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin.
|
| Wang Y, Panteleyev AA, Owens DM, Djabali K, Stewart CL, Worman HJ.
|
| Hum Mol Genet 17(15):2357-69. Epub 2008 Apr 28.
2008
|
| 69 | LMNA, PRO1
|
| A farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a progeria mouse model.
|
| Capell BC, Olive M, Erdos MR, Cao K, Faddah DA, Tavarez UL, Conneely KN, Qu X, San H, Ganesh SK, Chen X, Avallone H, Kolodgie FD, Virmani R, Nabel EG, Collins FS.
|
| Proc Natl Acad Sci U S A 105(41):15902-7. Epub 2008 Oct 6.
2008
|
| 70 | HHSS, LMNA
|
| Heart-hand syndrome of Slovenian type: a new kind of laminopathy.
|
| Renou L, Stora S, Yaou RB, Volk M, Sinkovec M, Demay L, Richard P, Peterlin B, Bonne G.
|
| J Med Genet 45(10):666-71. Epub 2008 Jul 8.
2008
|
| 71 | LMNA, LMNB1, LMNB2
|
| Nuclear lamins: major factors in the structural organization and function of the nucleus and chromatin.
|
| Dechat T, Pfleghaar K, Sengupta K, Shimi T, Shumaker DK, Solimando L, Goldman RD.
|
| Genes Dev 22(7):832-53. Review.
2008
|
| 72 | EMD, LMNA
|
| Emerin and the nuclear lamina in muscle and cardiac disease.
|
| Holaska JM.
|
| Circ Res 103(1):16-23. Review.PMID: 18596264 2008
|
| 73 | CMD1A, LMNA
|
| Sudden death in a patient with lamin A/C gene mutation and near normal left ventricular systolic function.
|
| Fernández X, Dumont CA, Monserrat L, Hermida-Prieto M, Castro-Beiras A.
|
| Int J Cardiol 126(1):136-7. Epub 2007 Apr 17.PMID: 17442430 2008
|
| 74 | FPLD2, LMNA
|
| A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy.
|
| 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.
|
| Clin Endocrinol (Oxf) 69(1):61-8. Epub 2008 Jul 1.PMID: 18031308 2008
|
| 75 | EMD2, EMD3, LMNA
|
| Expression of the myodystrophic R453W mutation of lamin A in C2C12 myoblasts causes promoter-specific and global epigenetic defects.
|
| Hĺkelien AM, Delbarre E, Gaustad KG, Buendia B, Collas P.
|
| Exp Cell Res 314(8):1869-80. Epub 2008 Mar 7.PMID: 18396274 2008
|
| 76 | CMD1A, LMNA
|
| Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
|
| Parks SB, Kushner JD, Nauman D, Burgess D, Ludwigsen S, Peterson A, Li D, Jakobs P, Litt M, Porter CB, Rahko PS, Hershberger RE.
|
| Am Heart J 156(1):161-9. Epub 2008 Mar 12.PMID: 18585512 2008
|
| 77 | LMNA, MADYS1
|
| The R527H mutation in LMNA gene causes an increased sensitivity to ionizing radiation.
|
| di Masi A, D'Apice MR, Ricordy R, Tanzarella C, Novelli G.
|
| Cell Cycle 7(13):2030-7. Epub 2008 Apr 11.PMID: 18604166 2008
|
| 78 | LGMD1B, LMNA
|
| De novo LMNA mutations cause a new form of congenital muscular dystrophy.
|
| Quijano-Roy S, Mbieleu B, Bönnemann CG, Jeannet PY, Colomer J, Clarke NF, Cuisset JM, Roper H, De Meirleir L, D'Amico A, Ben Yaou R, Nascimento A, Barois A, Demay L, Bertini E, Ferreiro A, Sewry CA, Romero NB, Ryan M, Muntoni F, Guicheney P, Richard P, Bonne G, Estournet B.
|
| Ann Neurol 64(2):177-86.
2008
|
| 79 | LMNA
|
| Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies.
|
| Zhang YQ, Sarge KD.
|
| J Cell Biol 182(1):35-9. Epub 2008 Jul 7.
2008
|
| 80 | LMNA, FPLD2
|
| Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).
|
| Lanktree M, Cao H, Rabkin S, Hanna A, Hegele R.
|
| Clin Genet 71(2):183-6. No abstract available. 2007
|
| 81 | PRO1, LMNA
|
| Alterations in mitosis and cell cycle progression caused by a mutant lamin A known to accelerate human aging.
|
| Dechat T, Shimi T, Adam SA, Rusinol AE, Andres DA, Spielmann HP, Sinensky MS, Goldman RD.
|
| Proc Natl Acad Sci U S A 104(12):4955-60. Epub 2007 Mar 14. 2007
|
| 82 | LMNA, PRO1
|
| A lamin A protein isoform overexpressed in Hutchinson-Gilford progeria syndrome interferes with mitosis in progeria and normal cells.
|
| Cao K, Capell BC, Erdos MR, Djabali K, Collins FS.
|
| Proc Natl Acad Sci U S A 104(12):4949-54. Epub 2007 Mar 14. 2007
|
| 83 | WRN, LMNA, PRO1
|
| Werner and Hutchinson-Gilford progeria syndromes: mechanistic basis of human progeroid diseases.
|
| Kudlow BA, Kennedy BK, Monnat RJ Jr.
|
| Nat Rev Mol Cell Biol 8(5):394-404. 2007
|
| 84 | CCND3,LMNA
|
| Identification of cyclin D3 as a new interaction partner of lamin A/C.
|
| Mariappan I, Gurung R, Thanumalayan S, Parnaik VK.
|
| Biochem Biophys Res Commun 355(4):981-5. Epub 2007 Feb 20. 2007
|
| 85 | MADYS1, LMNA
|
| Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes.
|
| Kosho T, Takahashi J, Momose T, Nakamura A, Sakurai A, Wada T, Yoshida K, Wakui K, Suzuki T, Kasuga K, Nishimura G, Kato H, Fukushima Y.
|
| Am J Med Genet A 143(21):2598-603. 2007
|
| 86 | MADYS1, LMNA
|
| Compound Heterozygosity for Mutations in LMNA in a Patient with a Myopathic and Lipodystrophic Mandibuloacral Dysplasia Type A Phenotype.
|
| Lombardi F, Gullotta F, Columbaro M, Filareto A, D'Adamo M, Vielle A, Guglielmi V, Nardone AM, Azzolini V, Grosso E, Lattanzi G, D'Apice MR, Masala S, Maraldi NM, Sbraccia P, Novelli G.
|
| J Clin Endocrinol Metab 92(11):4467-71. Epub 2007 Sep 11. 2007
|
| 87 | LMNA, FPLD2
|
| New Metabolic Phenotypes in Laminopathies: LMNA Mutations in Patients with Severe Metabolic Syndrome.
|
| Decaudain A, Vantyghem MC, Guerci B, Hcart AC, Auclair M, Reznik Y, Narbonne H, Ducluzeau PH, Donadille B, Lebb C, Brziat V, Capeau J, Lascols O, Vigouroux C.
|
| J Clin Endocrinol Metab 92(12):4835-44. Epub 2007 Aug 21. 2007
|
| 88 | LMNA, MCPRS
|
| Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells.
|
| Kandert S, Lke Y, Kleinhenz T, Neumann S, Lu W, Jaeger VM, Munck M, Wehnert M, Mller CR, Zhou Z, Noegel AA, Dabauvalle MC, Karakesisoglou I.
|
| Hum Mol Genet 16(23):2944-59. Epub 2007 Sep 19. 2007
|
| 89 | LMNA, FPLD2
|
| The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy.
|
| Muschke P, Klsch U, Jakubiczka S, Wieland I, Brune T, Wieacker P.
|
| Am J Med Genet A 143(23):2810-4. 2007
|
| 90 | CMT2B1, LMNA
|
| Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.
|
| Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E.
|
| Brain 130(Pt 4):1062-75. Epub 2007 Mar 8.
2007
|
| 91 | EMD2, EMD3, LGMD1B, LMNA
|
| Phenotypic clustering of lamin A/C mutations in neuromuscular patients.
|
| Benedetti S, Menditto I, Degano M, Rodolico C, Merlini L, D'Amico A, Palmucci L, Berardinelli A, Pegoraro E, Trevisan CP, Morandi L, Moroni I, Galluzzi G, Bertini E, Toscano A, Olivč M, Bonne G, Mari F, Caldara R, Fazio R, Mammě I, Carrera P, Toniolo D, Comi G, Quattrini A, Ferrari M, Previtali SC.
|
| Neurology 69(12):1285-92. Epub 2007 Mar 21.PMID: 17377071 2007
|
| 92 | LMNA
|
| Pre-Lamin A processing is linked to heterochromatin organization.
|
| Lattanzi G, Columbaro M, Mattioli E, Cenni V, Camozzi D, Wehnert M, Santi S, Riccio M, Del Coco R, Maraldi NM, Squarzoni S, Foisner R, Capanni C.
|
| J Cell Biochem 102(5):1149-59.PMID: 17654502 2007
|
| 93 | EMD2, LMNA
|
| A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery-Dreifuss muscular dystrophy phenotype.
|
| Maioli MA, Marrosu G, Mateddu A, Solla E, Carboni N, Tacconi P, Lai C, Marrosu MG.
|
| Muscle Nerve 36(6):828-32.PMID: 17701980 2007
|
| 94 | LMNA, PRO1
|
| A protein farnesyltransferase inhibitor ameliorates disease in a mouse model of progeria.
|
| Fong LG, Frost D, Meta M, Qiao X, Yang SH, Coffinier C, Young SG.
|
| Science 311(5767):1621-3. Epub 2006 Feb 16. 2006
|
| 95 | EMD, LMNA, EMD2
|
| Loss of emerin at the nuclear envelope disrupts the Rb1/E2F and MyoD pathways during muscle regeneration.
|
| Melcon G, Kozlov S, Cutler DA, Sullivan T, Hernandez L, Zhao P, Mitchell S, Nader G, Bakay M, Rottman JN, Hoffman EP, Stewart CL.
|
| Hum Mol Genet 15(4):637-51. Epub 2006 Jan 10. 2006
|
| 96 | LMNA, FPLD2
|
| Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy.
|
| Boguslavsky RL, Stewart CL, Worman HJ.
|
| Hum Mol Genet 15(4):653-63. Epub 2006 Jan 13. 2006
|
| 97 | LMNA, PRO1
|
| Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson-Gilford progeria syndrome.
|
| Varga R, Eriksson M, Erdos MR, Olive M, Harten I, Kolodgie F, Capell BC, Cheng J, Faddah D, Perkins S, Avallone H, San H, Qu X, Ganesh S, Gordon LB, Virmani R, Wight TN, Nabel EG, Collins FS.
|
| Proc Natl Acad Sci U S A 103(9):3250-5. Epub 2006 Feb 21. 2006
|
| 98 | PRO1, LMNA
|
| The truncated prelamin A in Hutchinson-Gilford progeria syndrome alters segregation of A-type and B-type lamin homopolymers.
|
| Delbarre E, Tramier M, Coppey-Moisan M, Gaillard C, Courvalin JC, Buendia B.
|
| Hum Mol Genet 15(7):1113-22. Epub 2006 Feb 15. 2006
|
| 99 | LMNA, PRO1
|
| Lamin A-dependent nuclear defects in human aging.
|
| Scaffidi P, Misteli T.
|
| Science 312(5776):1059-63. Epub 2006 Apr 27. 2006
|
| 100 | ZMPSTE24, LMNA, PRO1
|
| A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS.
|
| Denecke J, Brune T, Feldhaus T, Robenek H, Kranz C, Auchus RJ, Agarwal AK, Marquardt T.
|
| Hum Mutat 27(6):524-31. 2006
|
| 101 | LMNA, PRO1
|
| Farnesyl transferase inhibitors: the 'fountain of youth' for progeria syndromes.
|
| Kang M.
|
| Clin Genet 70(2):108-9. No abstract available. 2006
|
| 102 | LMNA, EMD2, EMD3
|
| Pathology and nuclear abnormalities in hearts of transgenic mice expressing M371K lamin A encoded by an LMNA mutation causing Emery-Dreifuss muscular dystrophy.
|
| Wang Y, Herron AJ, Worman HJ.
|
| Hum Mol Genet 15(16):2479-89. Epub 2006 Jul 6. 2006
|
| 103 | LMNA, PRO1
|
| Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation.
|
| Verstraeten VL, Broers JL, van Steensel MA, Zinn-Justin S, Ramaekers FC, Steijlen PM, Kamps M, Kuijpers HJ, Merckx D, Smeets HJ, Hennekam RC, Marcelis CL, van den Wijngaard A.
|
| Hum Mol Genet 15(16):2509-22. Epub 2006 Jul 6. 2006
|
| 104 | LMNA, MCPRS, PRO1
|
| Molecular bases of progeroid syndromes.
|
| Navarro CL, Cau P, Levy N.
|
| Hum Mol Genet 15 Spec No 2:R151-61. 2006
|
| 105 | LMNA, EMD2 , LGMD1B , CMD1A , CMT2B1 , FPLD2 , MADYS1 , PRO1 , WRN2 , RDMP2 , LDHCP , EMD3 , MCPRS
|
| The laminopathies: a clinical review.
|
| Rankin J, Ellard S.
|
| Clin Genet 70(4):261-74. 2006
|
| 106 | LMNA, EMD2, EMD3, LGMD1B, CMD1A, CMT2B1, FPLD2, MADYS1, PRO1, WRN2, RDMP2 , LDHCP, MCPRS
|
| Human laminopathies: nuclei gone genetically awry.
|
| Capell BC, Collins FS.
|
| Nat Rev Genet 7(12):940-52. 2006
|
| 107 | LMNA
|
| Dysfunction of lamin A triggers a DNA damage response and cellular senescence.
|
| Lees-Miller SP.
|
| DNA Repair (Amst) 5(2):286-9. Epub 2005 Dec 15. Review. Erratum in: DNA Repair (Amst). 2006 May 10;5(5):649. 2006
|
| 108 | LMNA
|
| Prelamin A and lamin A appear to be dispensable in the nuclear lamina.
|
| Fong LG, Ng JK, Lammerding J, Vickers TA, Meta M, Cot N, Gavino B, Qiao X, Chang SY, Young SR, Yang SH, Stewart CL, Lee RT, Bennett CF, Bergo MO, Young SG.
|
| J Clin Invest 116(3):743-52. 2006
|
| 109 | MDC1A, LMNA, FKTN, FCMD
|
| Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease?
|
| Taniguchi M, Kurahashi H, Noguchi S, Sese J, Okinaga T, Tsukahara T, Guicheney P, Ozono K, Nishino I, Morishita S, Toda T.
|
| Biochem Biophys Res Commun 342(2):489-502. Epub 2006 Feb 3. 2006
|
| 110 | FPLD, LMNA
|
| A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy type 2.
|
| Morel CF, Thomas MA, Cao H, O'Neil CH, Pickering JG, Foulkes WD, Hegele RA.
|
| J Clin Endocrinol Metab 91(7):2689-95. Epub 2006 Apr 24. 2006
|
| 111 | EMD2, LMNA
|
| Cardiac involvement in Emery-Dreifuss muscular dystrophy.
|
| Wessely R, Seidl S, Schomig A.
|
| Clin Genet 67(3):220-3. 2005
|
| 112 | PRO1, LMNA
|
| Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome.
|
| Scaffidi P, Misteli T.
|
| Nat Med 11(4):440-5. Epub 2005 Mar 6. 2005
|
| 113 | LMNA, SREBF1
|
| Altered pre-lamin A processing is a common mechanism leading to lipodystrophy.
|
| Capanni C, Mattioli E, Columbaro M, Lucarelli E, Parnaik VK, Novelli G, Wehnert M, Cenni V, Maraldi NM, Squarzoni S, Lattanzi G.
|
| Hum Mol Genet 14(11):1489-502. Epub 2005 Apr 20. 2005
|
| 114 | LMNA, PRO1, EMD2, CMD1A, FPLD2
|
| LMNA mutation position predicts organ system involvement in laminopathies.
|
| Hegele R.
|
| Clin Genet 68(1):31-4. 2005
|
| 115 | LMNA, PRO1
|
| Genomic instability in laminopathy-based premature aging.
|
| Liu B, Wang J, Chan KM, Tjia WM, Deng W, Guan X, Huang JD, Li KM, Chau PY, Chen DJ, Pei D, Pendas AM, Cadinanos J, Lopez-Otin C, Tse HF, Hutchison C, Chen J, Cao Y, Cheah KS, Tryggvason K, Zhou Z.
|
| Nat Med 11(7):780-5. Epub 2005 Jun 26. 2005
|
| 116 | LMNA, CMD1A
|
| In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients.
|
| 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.
|
| J Med Genet 42(8):639-47. 2005
|
| 117 | LMNA, PRO1
|
| Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome.
|
| Capell BC, Erdos MR, Madigan JP, Fiordalisi JJ, Varga R, Conneely KN, Gordon LB, Der CJ, Cox AD, Collins FS.
|
| Proc Natl Acad Sci U S A 102(36):12879-84. Epub 2005 Aug 29. 2005
|
| 118 | LMNA, SMAD2, RB, PPP2R3B, TGFB1
|
| A-type lamins are essential for TGF-{beta}1 induced PP2A to dephosphorylate transcription factors.
|
| Van Berlo JH, Voncken JW, Kubben N, Broers JL, Duisters R, van Leeuwen RE, Crijns HJ, Ramaekers FC, Hutchison CJ, Pinto YM.
|
| Hum Mol Genet 14(19):2839-49. Epub 2005 Aug 22. 2005
|
| 119 | LMNA, PRO1
|
| Inhibiting farnesylation reverses the nuclear morphology defect in a HeLa cell model for Hutchinson-Gilford progeria syndrome.
|
| Mallampalli MP, Huyer G, Bendale P, Gelb MH, Michaelis S.
|
| Proc Natl Acad Sci U S A 102(40):14416-21. Epub 2005 Sep 26. 2005
|
| 120 | LMNA, PRO1
|
| Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition.
|
| Glynn MW, Glover TW.
|
| Hum Mol Genet 14(20):2959-69. Epub 2005 Aug 26. 2005
|
| 121 | LMNA, EMD2
|
| Functions and dysfunctions of the nuclear lamin Ig-fold domain in nuclear assembly, growth, and Emery-Dreifuss muscular dystrophy.
|
| Shumaker DK, Lopez-Soler RI, Adam SA, Herrmann H, Moir RD, Spann TP, Goldman RD.
|
| Proc Natl Acad Sci U S A 102(43):15494-9. Epub 2005 Oct 14. 2005
|
| 122 | LMNA, FXTAS, FMR1
|
| Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells.
|
| Arocena DG, Iwahashi CK, Won N, Beilina A, Ludwig AL, Tassone F, Schwartz PH, Hagerman PJ.
|
| Hum Mol Genet 14(23):3661-71. Epub 2005 Oct 20. 2005
|
| 123 | LMNA
|
| Variants in the ghrelin gene are associated with metabolic syndrome in the Old Order Amish.
|
| Steinle NI, Pollin TI, O'Connell JR, Mitchell BD, Shuldiner AR.
|
| J Clin Endocrinol Metab 90(12):6672-7. Epub 2005 Oct 4. 2005
|
| 124 | PRO1, LMNA
|
| Correction of cellular phenotypes of Hutchinson-Gilford Progeria cells by RNA interference.
|
| Huang S, Chen L, Libina N, Janes J, Martin GM, Campisi J, Oshima J.
|
| Hum Genet 118(3-4):444-50. Epub 2005 Oct 6. 2005
|
| 125 | LMNA, MCPRS
|
| Aging syndrome genes and premature coronary artery disease.
|
| Low AF, O'Donnell CJ, Kathiresan S, Everett B, Chae CU, Shaw SY, Ellinor PT, MacRae CA.
|
| BMC Med Genet 6:38. 2005
|
| 126 | CMD1T, LMNA, TMPO
|
| Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy.
|
| Taylor MR, Slavov D, Gajewski A, Vlcek S, Ku L, Fain PR, Carniel E, Di Lenarda A, Sinagra G, Boucek MM, Cavanaugh J, Graw SL, Ruegg P, Feiger J, Zhu X, Ferguson DA, Bristow MR, Gotzmann J, Foisner R, Mestroni L; Familial Cardiomyopathy Registry Research Group.
|
| Hum Mutat 26(6):566-74. 2005
|
| 127 | LGMD1B, LMNA
|
| [Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations]
|
| Ben Yaou R, Becane HM, Demay L, Laforet P, Hannequin D, Bohu PA, Drouin-Garraud V, Ferrer X, Mussini JM, Ollagnon E, Petiot P, Penisson-Besnier I, Streichenberger N, Toutain A, Richard P, Eymard B, Bonne G.
|
| Rev Neurol (Paris) 161(1):42-54. French. 2005
|
| 128 | LMNA
|
| Inactivation of the lamin A/C gene by CpG island promoter hypermethylation in hematologic malignancies, and its association with poor survival in nodal diffuse large B-cell lymphoma.
|
| Agrelo R, Setien F, Espada J, Artiga MJ, Rodriguez M, Perez-Rosado A, Sanchez-Aguilera A, Fraga MF, Piris MA, Esteller M.
|
| J Clin Oncol 23(17):3940-7. Epub 2005 May 2. 2005
|
| 129 | LMNA, CMT2B1, EMD3, EMD2, LGMD1B
|
| Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.
|
| Benedetti S, Bertini E, Iannaccone S, Angelini C, Trisciani M, Toniolo D, Sferrazza B, Carrera P, Comi G, Ferrari M, Quattrini A, Previtali SC.
|
| J Neurol Neurosurg Psychiatry 76(7):1019-21. 2005
|
| 130 | LMNA, SYNE2, EMD
|
| Lamin A/C-dependent localization of Nesprin-2, a giant scaffolder at the nuclear envelope.
|
| Libotte T, Zaim H, Abraham S, Padmakumar VC, Schneider M, Lu W, Munck M, Hutchison C, Wehnert M, Fahrenkrog B, Sauder U, Aebi U, Noegel AA, Karakesisoglou I.
|
| Mol Biol Cell 16(7):3411-24. Epub 2005 Apr 20. 2005
|
| 131 | MTMR2, CMT4B1, SBF2, CMT4B2, SH3TC2, CMT4C, PRX, CMT4F, LMNA, CMT2B1
|
| Autosomal-recessive Charcot-Marie-Tooth diseases.
|
| Vallat JM, Tazir M, Magdelaine C, Sturtz F, Grid D.
|
| J Neuropathol Exp Neurol 64(5):363-70. Review. 2005
|
| 132 | LMNA, WRN2
|
| Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's syndrome due to heterozygous Arg133Leu lamin A/C mutation.
|
| Jacob KN, Baptista F, dos Santos HG, Oshima J, Agarwal AK, Garg A.
|
| J Clin Endocrinol Metab 90(12):6699-706. Epub 2005 Sep 20. 2005
|
| 133 | LMNA, LDHCP
|
| Adipokines and the insulin resistance syndrome in familial partial lipodystrophy caused by a mutation in lamin A/C.
|
| Wong SP, Huda M, English P, Bargiotta A, Wilding JP, Johnson A, Corrall R, Pinkney JH.
|
| Diabetologia 48(12):2641-9. Epub 2005 Nov 17. 2005
|
| 134 | HHSS, LMNA
|
| Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart-hand syndrome?
|
| Sinkovec M, Petrovic D, Volk M, Peterlin B.
|
| Clin Genet 68(2):155-60.
2005
|
| 135 | LMNA, PRO1
|
| Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes.
|
| Csoka AB, Cao H, Sammak PJ, Constantinescu D, Schatten GP, Hegele RA.
|
| J Med Genet 41(4):304-8. No abstract available. 2004
|
| 136 | LMNA, PRO1
|
| Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome.
|
| Plasilova M, Chattopadhyay C, Pal P, Schaub NA, Buechner SA, Mueller H, Miny P, Ghosh A, Heinimann K.
|
| J Med Genet 41(8):609-14. No abstract available. 2004
|
| 137 | RDMP1, RDMP2, ZMPSTE24, LMNA
|
| Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganisation and identify restrictive dermopathy as a lethal neonatal laminopathy.
|
| Navarro C, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Genevieve D, Hadj-Rabia S, Gaudy-Marqueste C, Smith HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Levy N.
|
| Hum Mol Genet 2004 Aug 18 [Epub ahead of print] 2004
|
| 138 | LMNA, PRO1
|
| Lamin A expression levels are unperturbed at the normal and mutant alleles but display partial splice site selection in Hutchinson-Gilford progeria syndrome.
|
| Reddel CJ, Weiss AS.
|
| J Med Genet 41(9):715-7. No abstract available. 2004
|
| 139 | RDMP1, RDMP2, LMNA, ZMPSTE24, PRO1
|
| Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
|
| Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Genevieve D, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Levy N.
|
| Hum Mol Genet 13(20):2493-503. Epub 2004 Aug 18. 2004
|
| 140 | LMNA
|
| Decreased mechanical stiffness in LMNA-/- cells is caused by defective nucleo-cytoskeletal integrity: implications for the development of laminopathies.
|
| Broers JL, Peeters EA, Kuijpers HJ, Endert J, Bouten CV, Oomens CW, Baaijens FP, Ramaekers FC.
|
| Hum Mol Genet 13(21):2567-80. Epub 2004 Sep 14. 2004
|
| 141 | LMNA, ZMPSTE24
|
| Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice.
|
| Fong LG, Ng JK, Meta M, Cote N, Yang SH, Stewart CL, Sullivan T, Burghardt A, Majumdar S, Reue K, Bergo MO, Young SG.
|
| Proc Natl Acad Sci U S A 101(52):18111-6. Epub 2004 Dec 17. 2004
|
| 142 | CMD1A, LMNA
|
| Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.
|
| 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.
|
| Am J Cardiol 94(1):50-4. 2004
|
| 143 | LMNA, LMNB1, LMNB2
|
| The stability of the nuclear lamina polymer changes with the composition of lamin subtypes according to their individual binding strengths.
|
| Schirmer EC, Gerace L.
|
| J Biol Chem 279(41):42811-7. Epub 2004 Jul 27. 2004
|
| 144 | LMNA, PRO1
|
| Lamin a truncation in Hutchinson-Gilford progeria.
|
| De Sandre-Giovannoli A, Bernard R, Cau P, Navarro C, Amiel J, Boccaccio I, Lyonnet S, Stewart CL, Munnich A, Le Merrer M, Levy N.
|
| Science 300(5628):2055. Epub 2003 Apr 17. No abstract available. 2003
|
| 145 | LMNA, PRO1
|
| Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
|
| Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS.
|
| Nature 423(6937):293-8. 2003
|
| 146 | LGMD1B, LMNA
|
| Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype.
|
| Charniot JC, Pascal C, Bouchier C, Sebillon P, Salama J, Duboscq-Bidot L, Peuchmaurd M, Desnos M, Artigou JY, Komajda M.
|
| Hum Mutat 21(5):473-81. 2003
|
| 147 | CMD1A, LMNA
|
| Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.
|
| 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.
|
| J Med Genet 40(8):560-7. 2003
|
| 148 | LMNA, WRN2
|
| LMNA mutations in atypical Werner's syndrome.
|
| Chen L, Lee L, Kudlow BA, Dos Santos HG, Sletvold O, Shafeghati Y, Botha EG, Garg A, Hanson NB, Martin GM, Mian IS, Kennedy BK, Oshima J.
|
| Lancet 362(9382):440-5. 2003
|
| 149 | ATRX, DNMT3B, EMD, FSHMD1A, HR,LBR, LMNA, MECP2, NSD1, SMARCAL1
|
| Perturbations of chromatin structure in human genetic disease: recent advances.
|
| Bickmore WA, Van Der Maarel SM.
|
| Hum Mol Genet 12 Suppl 2:R207-13. Epub 2003 Aug 05. 2003
|
| 150 | LGMD1B, LMNA
|
| Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene.
|
| Muchir A, van Engelen BG, Lammens M, Mislow JM, McNally E, Schwartz K, Bonne G.
|
| Exp Cell Res 291(2):352-62. 2003
|
| 151 | LMNA
|
| Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcription.
|
| Capanni C, Cenni V, Mattioli E, Sabatelli P, Ognibene A, Columbaro M, Parnaik VK, Wehnert M, Maraldi NM, Squarzoni S, Lattanzi G.
|
| Exp Cell Res 291(1):122-34. 2003
|
| 152 | LMNA, PRO1
|
| LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).
|
| Cao H, Hegele RA.
|
| J Hum Genet 48(5):271-4. Epub 2003 Apr 03. 2003
|
| 153 | LMNA , FPLD2, EMD2
|
| Effects of expressing lamin A mutant protein causing Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy in HeLa cells.
|
| Bechert K, Lagos-Quintana M, Harborth J, Weber K, Osborn M.
|
| Exp Cell Res 286(1):75-86. 2003
|
| 154 | FPLD2, LMNA
|
| 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.
|
| Hegele RA, Kraw ME, Ban MR, Miskie BA, Huff MW, Cao H.
|
| Arterioscler Thromb Vasc Biol 23(1):111-6. 2003
|
| 155 | LMNA
|
| The carboxyl-terminal region common to lamins A and C contains a DNA binding domain.
|
| Stierle V, Couprie J, Ostlund C, Krimm I, Zinn-Justin S, Hossenlopp P, Worman HJ, Courvalin JC, Duband-Goulet I.
|
| Biochemistry 42(17):4819-28. 2003
|
| 156 | LMNA, CMD1A
|
| Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.
|
| 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.
|
| J Am Coll Cardiol 41(5):771-80. Erratum in: J Am Coll Cardiol. 2003 Aug 6;42(3):590. 2003
|
| 157 | MADYS1, LMNA
|
| Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C.
|
| Shen JJ, Brown CA, Lupski JR, Potocki L.
|
| J Med Genet 40(11):854-7. No abstract available. 2003
|
| 158 | LMNA, LDHCP
|
| 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, Dubosclard E, Lascols O, Buendia B, Chazouilleres O, Cohen A, Courvalin JC, Laroche L, Capeau J, Vigouroux C, Christin-Maitre S.
|
| J Clin Endocrinol Metab 88(3):1006-13. 2003
|
| 159 | CMD1A, LMNA
|
| Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.
|
| Arbustini E, Pilotto A, Repetto A, Grasso M, Negri A, Diegoli M, Campana C, Scelsi L, Baldini E, Gavazzi A, Tavazzi L.
|
| J Am Coll Cardiol 39(6):981-90. 2002
|
| 160 | UBQLN4, CMT2B1, LMNA, SEMA4A
|
| 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.
|
| De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Levy N.
|
| Am J Hum Genet 70(3):726-36. 2002
|
| 161 | EMD, LMNA
|
| Emery-Dreifuss muscular dystrophy.
|
| Helbling-Leclerc A, Bonne G, Schwartz K.
|
| Eur J Hum Genet 10(3):157-61. 2002
|
| 162 | FPLD2, LMNA, SREBF1
|
| A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies.
|
| Lloyd DJ, Trembath RC, Shackleton S.
|
| Hum Mol Genet 11(7):769-77. 2002
|
| 163 | FPLD2, LMNA, MXD1
|
| Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.
|
| 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.
|
| Am J Hum Genet 71(2):426-31. 2002
|
| 164 | LMNA, ZNF239
|
| In vivo and in vitro interaction between human transcription factor MOK2 and nuclear lamin A/C.
|
| Dreuillet C, Tillit J, Kress M, Ernoult-Lange M.
|
| Nucleic Acids Res 30(21):4634-42. 2002
|
| 165 | LMNA, EMD2, LGMD1B
|
| Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.
|
| Ki CS, Hong JS, Jeong GY, Ahn KJ, Choi KM, Kim DK, Kim JW.
|
| J Hum Genet 47(5):225-8. 2002
|
| 166 | LMNA, EMD2
|
| Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.
|
| van der Kooi AJ, Bonne G, Eymard B, Duboc D, Talim B, Van der Valk M, Reiss P, Richard P, Demay L, Merlini L, Schwartz K, Busch HF, de Visser M.
|
| Neurology 59(4):620-3. 2002
|
| 167 | LMNA, EMD
|
| Functional domains of the nucleus: implications for Emery-Dreifuss muscular dystrophy.
|
| Maraldi NM, Lattanzi G, Sabatelli P, Ognibene A, Squarzoni S.
|
| Neuromuscul Disord 12(9):815-23. Review. 2002
|
| 168 | LMNA, RB1, TMPO
|
| Lamin A/C binding protein LAP2alpha is required for nuclear anchorage of retinoblastoma protein.
|
| Markiewicz E, Dechat T, Foisner R, Quinlan RA, Hutchison CJ.
|
| Mol Biol Cell 13(12):4401-13. 2002
|
| 169 | LMNA
|
| Subcutaneous Abdominal Adipocyte Size, a Predictor of Type 2 Diabetes, Is Linked to Chromosome 1q21-q23 and Is Associated with a Common Polymorphism in LMNA in Pima Indians.
|
| Weyer C, Wolford JK, Hanson RL, Foley JE, Tataranni PA, Bogardus C, Pratley RE.
|
| Mol Genet Metab 72(3):231-238. 2001
|
| 170 | LMNA
|
| The R482Q lamin A/C mutation that causes lipodystrophy does not prevent nuclear targeting of lamin A in adipocytes or its interaction with emerin.
|
| Holt I, Clements L, Manilal S, Brown SC, Morris GE.
|
| Eur J Hum Genet 9(3):204-8. 2001
|
| 171 | EMD2, LMNA
|
| Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.
|
| Brown CA, Lanning RW, McKinney KQ, Salvino AR, Cherniske E, Crowe CA, Darras BT, Gominak S, Greenberg CR, Grosmann C, Heydemann P, Mendell JR, Pober BR, Sasaki T, Shapiro F, Simpson DA, Suchowersky O, Spence JE.
|
| Am J Med Genet 102(4):359-67. 2001
|
| 172 | EMD, LMNA
|
| Distinct functional domains in emerin bind lamin A and DNA-bridging protein BAF.
|
| Lee KK, Haraguchi T, Lee RS, Koujin T, Hiraoka Y, Wilson KL.
|
| J Cell Sci 114(Pt 24):4567-73. 2001
|
| 173 | LMNA
|
| The A-type lamins: nuclear structural proteins as a focus for muscular dystrophy and cardiovascular diseases
|
| Mounkes LC, Burke B, Stewart CL.
|
| Trends Cardiovasc Med 11(7):280-5. Review. 2001
|
| 174 | LDHCP, LMNA
|
| Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene.
|
| Vigouroux C, Auclair M, Dubosclard E, Pouchelet M, Capeau J, Courvalin JC, Buendia B.
|
| J Cell Sci 114(Pt 24):4459-68. 2001
|
| 175 | FPLD2, LMNA
|
| LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.
|
| 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.
|
| Nat Genet 24(2):153-6. 2000
|
| 176 | FPLD2, LMNA
|
| 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 RA, Garg A, Du F, Bennett L, Veile R, Arioglu E, Taylor SI, Lovett M, Bowcock AM.
|
| Am J Hum Genet 66(4):1192-8. 2000
|
| 177 | FPLD2, LMNA
|
| Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.
|
| Cao H, Hegele RA.
|
| Hum Mol Genet 9(1):109-12. 2000
|
| 178 | EMD2, EMD3, LMNA
|
| Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.
|
| Raffaele Di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, Romorini A, Voit T, Orstavik KH, Merlini L, Trevisan C, Biancalana V, Housmanowa-Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D.
|
| Am J Hum Genet 66(4):1407-12. 2000
|
| 179 | CMD1A, LMNA
|
| Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement.
|
| Brodsky GL, Muntoni F, Miocic S, Sinagra G, Sewry C, Mestroni L.
|
| Circulation 101(5):473-6. 2000
|
| 180 | CMD1A, EMD2, FPLD2, LGMD1B, LMNA
|
| Mutations in the LMNA gene encoding lamin A/C.
|
| Genschel J, Schmidt HH.
|
| Hum Mutat 16(6):451-9. 2000
|
| 181 | EMD2, LMNA
|
| Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
|
| Bonne G, Mercuri E, Muchir A, Urtizberea A, Becane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F.
|
| Ann Neurol 48(2):170-80. 2000
|
| 182 | EMD, LMNA
|
| Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene.
|
| Felice KJ, Schwartz RC, Brown CA, Leicher CR, Grunnet ML.
|
| Neurology 55(2):275-80. 2000
|
| 183 | EMD2, LMNA
|
| Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy.
|
| Manilal S, et al.
|
| Hum Mol Genet 8 : 353-359. 1999
|
| 184 | EMD2, LMNA
|
| Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.
|
| Bonne G, et al.
|
| Nat Genet 21(3):285-8. 1999
|
| 185 | CMD1A, LMNA
|
| Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System Disease.
|
| 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.
|
| N Engl J Med 341(23):1715-1724 1999
|
| 186 | LMNA, EMD
|
| Heart to heart: from nuclear proteins to emery-dreifuss muscular dystrophy.
|
| Morris GE, Manilal S.
|
| Hum Mol Genet 8(10 REVIEW ISSUE):1847-51 1999
|
| 187 | LBR, LMNA, LMNB1
|
| Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization.
|
| Wydner KL, et al.
|
| Genomics 32 : 474-478. 1996
|
| 188 | LMNA
|
| An alternative splicing product of the lamin A/C gene lacks exon 10.
|
| Machiels BM, Zorenc AH, Endert JM, Kuijpers HJ, van Eys GJ, Ramaekers FC, Broers JL.
|
| J Biol Chem 271(16):9249-53. 1996
|
| 189 | LMNA, LMNL1, LMNL2
|
| Lamin A/C gene and a related sequence map to human chromosomes 1q12.1-q23 and 10.
|
| Kamat AK, et al.
|
| Somat Cell Mol Genet 19 : 203-208. 1993
|
| 190 | LMNA
|
| Mutations of phosphorylation sites in lamin A that prevent nuclear lamina disassembly in mitosis.
|
| Heald R, McKeon F.
|
| Cell 61(4):579-89.
1990
|
| 191 | LMNA
|
| cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins.
|
| Fisher DZ, Chaudhary N, Blobel G.
|
| Proc Natl Acad Sci U S A 83(17):6450-4. 1986
|