29:
482:
11 of the gene, thereby causing the deletion of the processing site on prelamin A. This results in an accumulation of progerin that is unable to mature into lamin A, leading to misshapen nuclei. Missplicing also leads to the complete or partial loss of exon 11 and results in a truncated prelamin A
1116:
The recent progress in uncovering the molecular mechanisms of toxic progerin formation in laminopathies leading to premature aging has opened up the potential for the development of targeted treatment. The farnesylation of prelamin A and its pathological form progerin is carried out by the enzyme
428:
in the lamin A/C rod and tail domains are the cause for a wide array of genetic disorders, suggesting that lamin A/C protein contains distinct functional domains that are essential for the maintenance and integrity of different cell lineages. Interaction between lamin A and the nuclear envelope
2909:
Hoffmann K, Dreger CK, Olins AL, Olins DE, Shultz LD, Lucke B, Karl H, Kaps R, Muller D, Vaya A, Aznar J, Ware RE, Cruz NS, Lindner TH, Herrmann H, Reis A, Sperling K (2002). "Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huet
449:
The most common mutation in the lamin A/C is the homozygous Arg527His (arginine replaced by histidine at position 527) substitution in exon 9 of the LMNA gene Other known mutations are Ala529Val and Arg527His/Val440Met. Additionally, some mutations such as Arg527Cys, Lys542Asn, Arg471Cys,
2832:
Caux F, Dubosclard E, Lascols O, Buendia B, Chazouilleres O, Cohen A, Courvalin JC, Laroche L, Capeau J, Vigouroux C, Christin-Maitre S (2003). "A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated
211:. Since the first reports of laminopathies in the late 1990s, increased research efforts have started to uncover the vital role of nuclear envelope proteins in cell and tissue integrity in animals. Laminopathies are a group of degenerative diseases, other disorders associated with
2604:
Bonne G, Di
Barletta MR, Varnous S, Becane HM, Hammouda EH, Merlini L, Muntoni F, Greenberg CR, Gary F, Urtizberea JA, Duboc D, Fardeau M, Toniolo D, Schwartz K (1999). "Mutations in the gene encoding lamin A/C cause autosomal dominant Emery–Dreifuss muscular dystrophy".
2263:
Liu B, Wang J, Chan KM, Tjia WM, Deng W, Guan X, Huang JD, Li KM, Chau PY, Chen DJ, Pei D, Pendas AM, Cadiñanos J, LĂłpez-OtĂn C, Tse HF, Hutchison C, Chen J, Cao Y, Cheah KS, Tryggvason K, Zhou Z (2005). "Genomic instability in laminopathy-based premature aging".
499:
activity cause defects similar to laminopathies caused by prelamin A with truncated processing sites. Symptoms in patients with ZMPSTE24 mutation range from mandibuloacral dysplasia, progeroid appearance, and generalized lipodystrophy to infant-lethal
2076:
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 (2004).
2441:
Charniot JC, Pascal C, Bouchier C, Sebillon P, Salama J, Duboscq-Bidot L, Peuchmaurd M, Desnos M, Artigou JY, Komajda M (2003). "Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype".
1657:
Young, Alexander Neil; Perlas, Emerald; Ruiz-Blanes, Nerea; Hierholzer, Andreas; Pomella, Nicola; Martin-Martin, Belen; Liverziani, Alessandra; Jachowicz, Joanna W.; Giannakouros, Thomas; Cerase, Andrea (2021-04-12).
366:
defects. Mutations in these genes might lead to defects in filament assembly and/or attachment to the nuclear envelope and thus jeopardize nuclear envelope stability in physically stressed tissues such as
2164:
Lassoued K, Guilly MN, Danon F, Andre C, Dhumeaux D, Clauvel JP, Brouet JC, Seligmann M, Courvalin JC (1988). "Antinuclear autoantibodies specific for lamins. Characterization and clinical significance".
440:
Most lamin B mutations appear to be lethal with mutations in lamin B1 causing death at birth in mice. In 2006, lamin B2 missense mutations were identified in patients with acquired partial lipodystrophy.
1901:
Zirn B, Kress W, Grimm T, Berthold LD, et al. (2008). "Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy".
1449:
Hoffmann, Katrin; Dreger, Christine K.; Olins, Ada L.; Olins, Donald E.; Shultz, Leonard D.; Lucke, Barbara; Karl, Hartmut; Kaps, Reinhard; Müller, Dietmar; Vayá, Amparo; Aznar, Justo (2002-07-15).
1133:, are already in use as anti-tumor medication in humans and may become avenues of treatment for children with laminopathic progeria. Nitrogen-containing bisphosphate drugs used in the treatment of
1852:
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 (2002).
564:
and are more sensitive to DNA damaging agents. The inability to adequately repair DNA damages when A-type lamins are defective is likely responsible for some of the aspects of premature aging.
2307:
Chen L, Lee L, Kudlow BA, Dos Santos HG, Sletvold O, Shafeghati Y, Botha EG, Garg E, Hanson NB, Martin GM, Mian IS, Kennedy BK, Oshima J (2003). "LMNA mutations in atypical Werner's syndrome".
255:(premature aging). Most of these symptoms develop after birth, typically during childhood or adolescence. Some laminopathies however may lead to an early death, and mutations of lamin B1 (
417:. This allows lamin A to dissociate from the nuclear envelope membrane and fulfill nuclear functions. Mutations causing laminopathies interfere with these processes on different levels.
1504:
Waterham, Hans R.; Koster, Janet; Mooyer, Petra; Noort, Gerard van; Kelley, Richard I.; Wilcox, William R.; Ronald
Wanders, J.A.; Raoul Hennekam, C.M.; Jan Oosterwijk, C. (April 2003).
1998:
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 (2003).
433:. Different mutations lead to dominant-negative and recessive alleles. Mutations in the lamin rod domain leading to mislocalization of both lamin A and emerin occur in patients with
484:
1125:(FTIs) can be used effectively to reduce symptoms in two mouse model systems for progeria and to revert the abnormal nuclear morphology in progeroid cell cultures. Two oral FTIs,
2487:"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"
3760:
2793:"Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)"
2350:
Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk PCM, Costa T, Janssens K, Menten B, Van Roy N, Vermeulen SJT, Savarirayan R, Van Hul W, et al. (2004).
2953:
Captur, Gabriella; Arbustini, Eloisa; Bonne, Gisèle; Syrris, Petros; Mills, Kevin; Wahbi, Karim; Mohiddin, Saidi A.; McKenna, William J.; Pettit, Stephen (2017-11-25).
2121:
Padiath QS, Saigoh K, Schiffmann R, Asahara H, Yamada T, Koeppen A, Hogan K, Ptacek LJ, Fu YH (2006). "Lamin B1 duplications cause autosomal dominant leukodystrophy".
1392:
Padiath QS, Saigoh K, Schiffmann R, Asahara H, Yamada T, Koeppen A, Hogan K, Ptácek LJ, Fu YH (2006). "Lamin B1 duplications cause autosomal dominant leukodystrophy".
4034:
2744:"Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3-beta-hydroxysterol delta(14)-reductase deficiency due to mutations in the lamin B receptor gene"
2214:
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 (2011).
282:(LMNB2 gene) have been linked to Barraquer-Simons syndrome and duplication in the gene coding for lamin B1 (LMNB1 gene) cause autosomal dominant leukodystrophy.
2485:
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 (2002).
3996:
1506:"Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3β-Hydroxysterol Δ14-Reductase Deficiency Due to Mutations in the Lamin B Receptor Gene"
1167:"Dermal fibroblasts in Hutchinson–Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress"
2954:
1561:
Greenberg, Cheryl R.; Rimoin, David L.; Gruber, Helen E.; DeSa, D. J. B.; Reed, M.; Lachman, Ralph S.; Optiz, John M.; Reynolds, James F. (March 1988).
3396:
3593:
2200:
1946:"A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome"
1435:
1378:
2391:
Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, Atherton J, Vidaillet HJ, Spudich S, De
Girolami U, Seidman JG, Seidman CE (1999).
2648:
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,
4083:
3529:
3479:
3173:
548:
promote genetic stability by maintaining the levels of proteins that have key roles in DNA double-strand break repair during the processes of
401:
to attach a membrane anchor to the protein. This version of the protein is also referred to as prelamin A. Farnesylated prelamin A is further
1944:
Al-Haggar M, Madej-Pilarczyk A, Kozlowski L, Bujnicki JM, Yahia S, Abdel-Hadi D, Shams A, Ahmad N, Hamed S, Puzianowska-Kuznicka M (2012).
2534:
Manilal S, Nguyen TM, Sewry CA, Morris GE (1996). "The Emery–Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein".
2079:"Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identity restrictive dermopathy as a lethal neonatal laminopathy"
1141:
production and thus prelamin A farnesylation. Testing of these drugs may prove them to be useful in treating progeria as well. The use of
3598:
354:
such as lamin B receptor and emerin. The nuclear lamina appears to be an adaptation to mobility in animals as sessile organisms such as
4017:
3985:
1660:"Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation"
520:
of lamin B in cells appears to be crucial for nuclear integrity as increased expression of lamin B causes a degenerative phenotype in
2163:
1148:
to inhibit progerin synthesis in affected cells is another avenue of current research into the development of anti-progerin drugs.
843:
37:
4098:
3720:
3710:
3702:
1610:"Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huet anomaly"
1451:"Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger–Huët anomaly)"
560:
syndrome, a dramatic form of premature aging. Mouse cells deficient for maturation of prelamin A show increased DNA damage and
429:
protein emerin appears to be crucial in muscle cells, with certain mutations in lamin mimicking mutations in emerin and causing
1097:
146:
2393:"Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease"
4001:
1391:
773:
748:
723:
430:
323:
3618:
495:
Since the metalloproteinase STE24 is required to process prelamin A into mature lamin A, mutations in this gene abolishing
227:
Laminopathies and other nuclear envelopathies have a large variety of clinical symptoms including skeletal and/or cardiac
3793:
3670:
2654:"Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery–Dreifuss muscular dystrophy"
699:
3166:
3826:
3821:
2742:
Waterham HR, Koster J, Mooyer P, van Noort G, Kelley RI, Wilcox WR, Wanders RJ, Hennekam RC, Oosterwijk JC (2003).
1802:"Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy"
1331:"Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy"
285:
Mutations implicated in other nuclear envelopathies were found in genes coding for lamin-binding proteins such as
4073:
3740:
3630:
1122:
647:
351:
294:
1328:
917:
Lipoatrophy with diabetes, hepatic steatosis, hypertrophic cardiomyopathy, and leukomelanodermic papules (LDHCP)
4048:
3929:
3883:
3715:
3705:
2352:"Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke–Ollendorff syndrome and melorheostosis"
889:
402:
212:
350:
in animal cells. They are attached to the nuclear envelope membrane via farnesyl anchors and interaction with
4093:
3878:
3847:
3798:
3730:
3675:
3645:
3549:
3499:
3469:
3369:
3159:
624:
3052:
Meta M, Yang SH, Bergo MO, Fong LG, Young SG (2006). "Protein farnesyltransferase inhibitors and progeria".
3519:
3453:
3265:
1093:
298:
3135:
4078:
4068:
3339:
3316:
3293:
3255:
3217:
2703:"Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy"
933:
3918:
3899:
3816:
549:
2791:
Muchir A, Bonne G, van der Kooi AJ, van Meegen M, Baas F, Bolhuis PA, de Visser M, Schwartz K (2000).
3980:
3975:
3873:
3697:
3448:
3106:
2649:
2569:
Clements L, Manilal S, Love DR, Morris GE (2000). "Direct interaction between emerin and lamin A".
1060:
Currently, there is no cure for laminopathies and treatment is largely symptomatic and supportive.
1017:
978:
950:
597:
553:
451:
516:
leukodystrophy, the disease is associated with a duplication of the lamin B gene LMNB1. The exact
40:, visualized by immunofluorescence - note the irregular and bumpy shape of the laminopathic nuclei
4012:
3954:
3755:
3559:
3275:
2392:
1006:
77:
319:
mutations creating dominant alleles that do not allow their carriers to reproduce before death.
3665:
3623:
3222:
1138:
1041:
1030:
876:
675:
561:
501:
166:
1717:"Comparative genomics, evolution and origins of the nuclear envelope and nuclear pore complex"
3924:
3412:
3270:
3227:
2194:
2078:
1429:
1372:
1085:
925:
806:
394:
339:
2011:
1283:
1118:
390:
330:
mutation in the EMD gene coding for emerin and affecting an estimated 1 in 100,000 people.
142:
1758:"Role of nuclear lamina-cytoskeleton interactions in the maintenance of cellular strength"
8:
3386:
2000:"Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome"
1800:
Hegele RA, Cao H, Liu DM, Costain GA, Charlton-Menys V, Rodger NW, Durrington PN (2006).
1329:
Hegele RA, Cao H, Liu DM, Costain GA, Charlton-Menys V, Rodger NW, Durrington PN (2006).
819:
471:
138:
90:
66:
2042:
2015:
1999:
1287:
36:
Normal nuclear lamina (a and b) and mutant nuclear lamina (c and d) from a patient with
3893:
3569:
3539:
3509:
3489:
3458:
2993:
2935:
2768:
2743:
2678:
2653:
2630:
2467:
2423:
2332:
2289:
2240:
2215:
2146:
2055:
1970:
1945:
1926:
1826:
1801:
1692:
1538:
1486:
1417:
1355:
1330:
1244:
1217:
1193:
1166:
1065:
900:
785:
760:
735:
533:
513:
434:
228:
70:
57:
2511:
2486:
2320:
1878:
1853:
1306:
1271:
4088:
3634:
3321:
3298:
3250:
3232:
3069:
3034:
2985:
2977:
2927:
2891:
2850:
2814:
2773:
2724:
2683:
2622:
2586:
2551:
2516:
2459:
2415:
2373:
2324:
2281:
2245:
2182:
2138:
2100:
2047:
1975:
1930:
1918:
1883:
1831:
1779:
1738:
1697:
1679:
1639:
1631:
1590:
1582:
1543:
1525:
1478:
1470:
1409:
1360:
1311:
1249:
1198:
425:
406:
380:
121:
82:
50:
45:
3111:
2471:
2427:
2336:
2293:
2150:
1421:
1165:
Paradisi M, McClintock D, Boguslavsky RL, Pedicelli C, Worman HJ, Djabali K (2005).
3861:
3061:
3024:
2997:
2969:
2939:
2919:
2881:
2842:
2804:
2763:
2755:
2714:
2673:
2665:
2634:
2614:
2578:
2543:
2506:
2498:
2451:
2407:
2363:
2316:
2273:
2235:
2227:
2174:
2130:
2090:
2059:
2037:
2027:
2019:
1965:
1957:
1910:
1873:
1865:
1821:
1813:
1769:
1728:
1687:
1671:
1621:
1574:
1533:
1517:
1490:
1462:
1401:
1350:
1342:
1301:
1291:
1239:
1229:
1188:
1178:
1089:
1061:
347:
286:
200:
3745:
3427:
3391:
3364:
3065:
2973:
1774:
1757:
1145:
611:
62:
2411:
2178:
1659:
3942:
3439:
3260:
1675:
1069:
1068:
may be helpful for patients with muscular dystrophies. Laminopathies affecting
904:
686:
572:
343:
305:
248:
208:
3013:"Farnesylated lamins, progeroid syndromes and farnesyl transferase inhibitors"
4062:
3661:
3191:
2981:
1854:"Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C"
1683:
1635:
1586:
1562:
1529:
1474:
1077:
1073:
993:
965:
634:
398:
386:
309:
232:
158:
134:
86:
1578:
1296:
1234:
532:
Antibodies against lamins are detected in the sera of some individuals with
3182:
3073:
3038:
2989:
2931:
2895:
2854:
2846:
2818:
2809:
2792:
2777:
2728:
2687:
2626:
2590:
2582:
2520:
2463:
2419:
2377:
2328:
2285:
2249:
2231:
2142:
2104:
2075:
2051:
1979:
1922:
1887:
1835:
1783:
1742:
1701:
1643:
1563:"A new autosomal recessive lethal chondrodystrophy with congenital hydrops"
1547:
1482:
1413:
1364:
1315:
1253:
1202:
1183:
1134:
1081:
368:
322:
The nuclear envelopathy with the highest frequency in human populations is
162:
2870:"Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia"
2719:
2702:
2555:
2547:
2186:
1594:
267:
Patients with classical laminopathy have mutations in the gene coding for
189:
4008:
3971:
3937:
3776:
3587:
3435:
3381:
3308:
3200:
2886:
2869:
2095:
2032:
1961:
1943:
1914:
1733:
1716:
1626:
1609:
937:
929:
662:
517:
327:
3098:
2023:
195:
4024:
3641:
3565:
3555:
3545:
3535:
3525:
3515:
3465:
3151:
2647:
2484:
2455:
1130:
1126:
1105:
710:
521:
474:
LMNA mRNA, therefore producing abnormal lamin A protein, also known as
410:
244:
153:
3029:
3012:
1851:
1164:
28:
3949:
3842:
3505:
3495:
3485:
3475:
3443:
3431:
3359:
2349:
1142:
989:
961:
867:
Leukodystrophy, demyelinating, adult-onset, autosomal dominant (ADLD)
830:
658:
240:
173:
1505:
1046:
Lamin A/C or Zinc metalloprotease STE24 (prelamin-processing enzyme)
3869:
3285:
3130:
2759:
2669:
2502:
2368:
2351:
2277:
2134:
1869:
1817:
1521:
1450:
1405:
1346:
854:
607:
557:
496:
467:
455:
414:
279:
252:
236:
204:
2923:
1466:
1272:"Lamin B1 is required for mouse development and nuclear integrity"
450:
Thr528Met/Met540Thr, and Arg471Cys/Arg527Cys, Arg527Leu result in
362:
do not have lamins and the symptoms of many laminopathies include
3992:
3909:
3889:
3785:
3376:
2833:
leukomelanodermic papules, liver steatosis, and cardiomyopathy".
2790:
2618:
2216:"A dual role for A-type lamins in DNA double-strand break repair"
1101:
1656:
1036:
1012:
984:
956:
920:
895:
870:
849:
824:
801:
779:
754:
729:
705:
681:
652:
629:
602:
3808:
3614:
3242:
363:
359:
312:
290:
2440:
2120:
3583:
3579:
3575:
3331:
3209:
2741:
2652:, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D (2000).
2603:
1714:
545:
355:
268:
256:
2831:
2213:
1755:
573:
Types of known laminopathies and other nuclear envelopathies
4029:
3761:
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
479:
376:
372:
297:(LEMD3 gene) and prelamin A-processing enzymes such as the
272:
2952:
1756:
Houben F, Ramaekers FC, Snoeckx LH, Broers JL (May 2007).
798:
Familial partial lipodystrophy of the
Dunnigan type (FPLD)
4035:
Microcephalic osteodysplastic primordial dwarfism type II
2568:
1560:
1503:
1270:
Vergnes L, Peterfy M, Bergo MO, Young SG, Reue K (2004).
2908:
2533:
1997:
1448:
1269:
1100:. Treatment for neuropathies may include medication for
556:. Mutations in lamin A (LMNA) cause Hutchinson–Gilford
2390:
2306:
998:
Zinc metalloprotease STE24 (prelamin-processing enzyme)
667:
LEM domain containing protein 3 (lamin-binding protein)
2867:
1900:
1715:
Mans BJ, Anantharaman V, Aravind L, Koonin EV (2004).
1092:
that frequently occur in these patients may require a
478:. The mutations activate a cryptic splice site within
3997:
Epidermolysis bullosa simplex with muscular dystrophy
3088:
2641:
2478:
1799:
3397:Terminal osseous dysplasia with pigmentary defects
420:
3051:
875:Progressive demyelinating disorder affecting the
4060:
2868:Agarwal AK, Fryns JP, Auchus RJ, Garg A (2003).
1216:Chi, YH; Chen, ZJ; Jeang, KT (22 October 2009).
437:forms of muscular dystrophy and cardiomyopathy.
3010:
2262:
1076:requiring treatment with medications including
3530:Meesmann juvenile epithelial corneal dystrophy
3480:Meesmann juvenile epithelial corneal dystrophy
1218:"The nuclear envelopathies and human diseases"
3167:
4018:Arrhythmogenic right ventricular dysplasia 9
3986:Arrhythmogenic right ventricular dysplasia 8
2256:
2207:
2199:: CS1 maint: multiple names: authors list (
1434:: CS1 maint: multiple names: authors list (
1377:: CS1 maint: multiple names: authors list (
1215:
3599:Reticular pigmented anomaly of the flexures
1993:
1991:
1989:
610:with increased severity compared to normal
3174:
3160:
2116:
2114:
2071:
2069:
1847:
1845:
524:and leads to abnormal nuclear morphology.
27:
3028:
2885:
2808:
2767:
2718:
2700:
2677:
2510:
2367:
2343:
2239:
2094:
2041:
2031:
1969:
1877:
1825:
1795:
1793:
1773:
1732:
1691:
1625:
1537:
1354:
1305:
1295:
1265:
1263:
1243:
1233:
1192:
1182:
3594:Naegeli–Franceschetti–Jadassohn syndrome
3181:
2902:
2735:
2562:
2434:
1986:
527:
304:Mutations causing laminopathies include
259:gene) may be lethal before or at birth.
3004:
2861:
2527:
2111:
2066:
1842:
397:into lamins A and C. Lamin A undergoes
4061:
2784:
2384:
1790:
1749:
1607:
1510:The American Journal of Human Genetics
1260:
1158:
507:
389:produced from the LMNA gene undergoes
333:
4084:Medical conditions related to obesity
4002:Epidermolysis bullosa simplex of Ogna
3271:DFN A3, 4, 11, 17, 22; B2, 30, 37, 48
3155:
2597:
490:
222:
3619:Desmin-related myofibrillar myopathy
3256:Hypertrophic cardiomyopathy 1, 8, 10
3045:
2825:
2300:
1708:
1567:American Journal of Medical Genetics
844:Hutchinson–Gilford progeria syndrome
3711:Emery–Dreifuss muscular dystrophy 2
2694:
461:
13:
3976:Striate palmoplantar keratoderma 2
3671:Charcot–Marie–Tooth disease 1F, 2E
3449:Striate palmoplantar keratoderma 3
1209:
881:Lamin B1 (tandem gene duplication)
444:
207:in genes encoding proteins of the
14:
4110:
3827:Asphyxiating thoracic dysplasia 3
3716:Limb-girdle muscular dystrophy 1B
3084:
774:Emery–Dreifuss muscular dystrophy
749:Emery–Dreifuss muscular dystrophy
724:Emery–Dreifuss muscular dystrophy
431:Emery–Dreifuss muscular dystrophy
324:Emery–Dreifuss muscular dystrophy
278:Mutations in the gene coding for
3822:Short rib-polydactyly syndrome 3
3799:Hereditary spastic paraplegia 10
3294:Hypertrophic cardiomyopathy 7, 2
3011:Rusinal AE, Sinensky MS (2006).
981:with type B lipodystrophy (MADB)
953:with type A lipodystrophy (MADA)
3721:Charcot–Marie–Tooth disease 2B1
2946:
2157:
1937:
1894:
1650:
1123:Farnesyl transferase inhibitors
485:tight skin contracture syndrome
483:protein in the neonatal lethal
421:Nonsense and missense mutations
352:inner nuclear membrane proteins
295:LEM domain-containing protein 3
213:inner nuclear membrane proteins
4099:Genetic diseases and disorders
3930:Familial adenomatous polyposis
3884:Hereditary elliptocytosis 2, 3
3794:Charcot–Marie–Tooth disease 2A
3706:Familial partial lipodystrophy
3218:Hypertrophic cardiomyopathy 11
1601:
1554:
1497:
1442:
1385:
1322:
890:Limb-girdle muscular dystrophy
740:Emerin (lamin-binding protein)
1:
3879:Hereditary spherocytosis 2, 3
3848:Cavernous venous malformation
3676:Amyotrophic lateral sclerosis
3646:Amyotrophic lateral sclerosis
3550:Epidermolysis bullosa simplex
3500:Epidermolysis bullosa simplex
3470:Ichthyosis bullosa of Siemens
3340:Hypertrophic cardiomyopathy 9
3317:Hypertrophic cardiomyopathy 3
2571:Biochem. Biophys. Res. Commun
2321:10.1016/S0140-6736(03)14069-X
1222:Journal of Biomedical Science
1151:
776:, autosomal recessive (EDMD3)
539:
3520:Epidermolytic hyperkeratosis
3454:Epidermolytic hyperkeratosis
3066:10.1016/j.molmed.2006.08.006
2974:10.1136/heartjnl-2017-312338
1775:10.1016/j.bbamcr.2006.09.018
1608:Shultz, L. D. (2003-01-01).
1276:Proc. Natl. Acad. Sci. U.S.A
1055:
751:, autosomal dominant (EDMD2)
591:
588:
585:
582:
579:
567:
299:zinc metalloproteinase STE24
7:
3741:Buschke–Ollendorff syndrome
2412:10.1056/NEJM199912023412302
2179:10.7326/0003-4819-108-6-829
1111:
934:hypertrophic cardiomyopathy
700:Charcot–Marie–Tooth disease
648:Buschke–Ollendorff syndrome
262:
10:
4115:
3900:Hereditary spherocytosis 1
3817:Primary ciliary dyskinesia
3223:Dilated cardiomyopathy 1AA
2835:J. Clin. Endocrinol. Metab
1676:10.1038/s42003-021-01944-2
1028:
1004:
976:
948:
915:
887:
865:
841:
817:
796:
771:
746:
721:
697:
678:, with quadriceps myopathy
673:
645:
622:
595:
550:non-homologous end joining
4044:
3964:
3908:
3860:
3835:
3807:
3784:
3775:
3731:Barraquer–Simons syndrome
3684:
3654:
3624:Dilated cardiomyopathy 1I
3607:
3420:
3411:
3370:Weill–Marchesani syndrome
3352:
3330:
3307:
3284:
3241:
3208:
3199:
3190:
3121:
3092:
2701:Cao H, Hegele RA (2002).
1098:implantable defibrillator
625:Barraquer–Simons syndrome
405:into mature lamin A by a
172:
152:
147:implantable defibrillator
130:
126:Clinical, genetic testing
120:
112:
104:
96:
76:
56:
44:
35:
26:
21:
3874:Spinocerebellar ataxia 5
3698:Mandibuloacral dysplasia
3266:Freeman–Sheldon syndrome
2650:Hausmanowa-Petrusewicz I
1614:Human Molecular Genetics
979:Mandibuloacral dysplasia
951:Mandibuloacral dysplasia
598:Atypical Werner syndrome
554:homologous recombination
452:mandibuloacral dysplasia
346:scaffold underneath the
4013:Skin fragility syndrome
3955:Giant axonal neuropathy
3560:Steatocystoma multiplex
1579:10.1002/ajmg.1320290321
1297:10.1073/pnas.0401424101
1235:10.1186/1423-0127-16-96
1086:aldosterone antagonists
903:of hips and shoulders,
676:Cardiomyopathy, dilated
342:proteins that form the
4074:Neurological disorders
3299:Nemaline myopathy 4, 5
2847:10.1210/jc.2002-021506
2583:10.1006/bbrc.1999.2023
2232:10.4161/cc.10.15.16531
1762:Biochim. Biophys. Acta
1664:Communications Biology
1184:10.1186/1471-2121-6-27
1090:abnormal heart rhythms
1031:Restrictive dermopathy
877:central nervous system
562:chromosome aberrations
502:restrictive dermopathy
199:) are a group of rare
167:aldosterone antagonist
4049:Cytoskeletal proteins
2955:"Lamin and the heart"
926:Lipoatrophic diabetes
807:Lipoatrophic diabetes
784:Skeletal and cardiac
759:Skeletal and cardiac
734:Skeletal and cardiac
528:Autoimmune antibodies
413:and its farnesylated
409:removing the last 15
340:intermediate filament
217:nuclear envelopathies
65:, reduced sensation,
4094:Cytoskeletal defects
2810:10.1093/hmg/9.9.1453
1962:10.1038/ejhg.2012.77
1915:10.1002/ajmg.a.32259
1734:10.4161/cc.3.12.1316
1119:farnesyl transferase
391:alternative splicing
3756:Pelger–Huet anomaly
3666:Parkinson's disease
3387:Boomerang dysplasia
3322:Nemaline myopathy 1
3276:May–Hegglin anomaly
3233:Nemaline myopathy 3
2720:10.1093/hmg/9.1.109
2548:10.1093/hmg/5.6.801
2024:10.1038/nature01629
2016:2003Natur.423..293E
1288:2004PNAS..10110428V
1139:farnesyldiphosphate
1007:Pelger–Huet anomaly
820:Greenberg dysplasia
534:autoimmune diseases
508:Gene dosage effects
334:Molecular mechanism
139:orthopaedic surgery
67:shortness of breath
4079:Muscular dystrophy
4069:Muscular disorders
3925:Gardner's syndrome
3894:Long QT syndrome 4
3570:Familial cirrhosis
3540:White sponge nevus
3510:Familial cirrhosis
3490:White sponge nevus
3122:External resources
3023:(Pt 16): 3265–72.
2887:10.1093/hmg/ddg213
2456:10.1002/humu.10170
2096:10.1093/hmg/ddh265
1627:10.1093/hmg/ddg003
1066:orthopedic surgery
1064:and/or corrective
901:Muscular dystrophy
786:muscular dystrophy
761:muscular dystrophy
736:muscular dystrophy
702:, axonal, type 2B1
514:autosomal dominant
491:Processing defects
466:Mutations causing
435:autosomal dominant
426:Missense mutations
229:muscular dystrophy
223:Symptoms and signs
4056:
4055:
3981:Carvajal syndrome
3856:
3855:
3771:
3770:
3635:Alexander disease
3407:
3406:
3348:
3347:
3261:Usher syndrome 1B
3251:Elejalde syndrome
3145:
3144:
3030:10.1242/jcs.03156
2880:(16): 1995–2001.
2748:Am. J. Hum. Genet
2658:Am. J. Hum. Genet
2491:Am. J. Hum. Genet
2129:(10): 1114–1123.
2089:(20): 2493–2503.
1858:Am. J. Hum. Genet
1806:Am. J. Hum. Genet
1400:(10): 1114–1123.
1053:
1052:
726:, X-linked (EDMD)
470:are defective in
407:metalloproteinase
381:connective tissue
301:(ZMPSTE24 gene).
201:genetic disorders
182:
181:
122:Diagnostic method
51:Clinical Genetics
16:Medical condition
4106:
4047:Related topics:
3782:
3781:
3418:
3417:
3206:
3205:
3197:
3196:
3176:
3169:
3162:
3153:
3152:
3090:
3089:
3078:
3077:
3049:
3043:
3042:
3032:
3008:
3002:
3001:
2959:
2950:
2944:
2943:
2906:
2900:
2899:
2889:
2865:
2859:
2858:
2829:
2823:
2822:
2812:
2788:
2782:
2781:
2771:
2739:
2733:
2732:
2722:
2698:
2692:
2691:
2681:
2645:
2639:
2638:
2601:
2595:
2594:
2566:
2560:
2559:
2531:
2525:
2524:
2514:
2482:
2476:
2475:
2438:
2432:
2431:
2397:
2388:
2382:
2381:
2371:
2347:
2341:
2340:
2304:
2298:
2297:
2260:
2254:
2253:
2243:
2211:
2205:
2204:
2198:
2190:
2161:
2155:
2154:
2118:
2109:
2108:
2098:
2073:
2064:
2063:
2045:
2035:
1995:
1984:
1983:
1973:
1941:
1935:
1934:
1909:(8): 1049–1054.
1903:Am J Med Genet A
1898:
1892:
1891:
1881:
1849:
1840:
1839:
1829:
1797:
1788:
1787:
1777:
1753:
1747:
1746:
1736:
1712:
1706:
1705:
1695:
1654:
1648:
1647:
1629:
1605:
1599:
1598:
1558:
1552:
1551:
1541:
1516:(4): 1013–1017.
1501:
1495:
1494:
1446:
1440:
1439:
1433:
1425:
1389:
1383:
1382:
1376:
1368:
1358:
1326:
1320:
1319:
1309:
1299:
1282:(28): 10428–33.
1267:
1258:
1257:
1247:
1237:
1213:
1207:
1206:
1196:
1186:
1162:
1146:oligonucleotides
1062:Physical therapy
1022:Lamin B receptor
892:type 1B (LGMD1B)
835:Lamin B receptor
577:
576:
462:Splicing defects
458:-like features.
348:nuclear envelope
287:lamin B receptor
31:
19:
18:
4114:
4113:
4109:
4108:
4107:
4105:
4104:
4103:
4059:
4058:
4057:
4052:
4040:
3960:
3904:
3852:
3831:
3803:
3767:
3746:Osteopoikilosis
3680:
3650:
3603:
3403:
3392:Larsen syndrome
3365:Marfan syndrome
3344:
3326:
3303:
3280:
3237:
3186:
3180:
3146:
3141:
3140:
3117:
3116:
3101:
3087:
3082:
3081:
3054:Trends Mol. Med
3050:
3046:
3009:
3005:
2957:
2951:
2947:
2912:Nature Genetics
2907:
2903:
2874:Hum. Mol. Genet
2866:
2862:
2830:
2826:
2797:Hum. Mol. Genet
2789:
2785:
2740:
2736:
2707:Hum. Mol. Genet
2699:
2695:
2646:
2642:
2607:Nature Genetics
2602:
2598:
2567:
2563:
2536:Hum. Mol. Genet
2532:
2528:
2483:
2479:
2439:
2435:
2406:(23): 1715–24.
2400:N. Engl. J. Med
2395:
2389:
2385:
2356:Nature Genetics
2348:
2344:
2315:(9382): 440–5.
2305:
2301:
2261:
2257:
2226:(15): 2549–60.
2212:
2208:
2192:
2191:
2162:
2158:
2123:Nature Genetics
2119:
2112:
2083:Hum. Mol. Genet
2074:
2067:
2010:(6937): 293–8.
1996:
1987:
1956:(11): 1134–40.
1950:Eur J Hum Genet
1942:
1938:
1899:
1895:
1850:
1843:
1798:
1791:
1754:
1750:
1727:(12): 1612–37.
1713:
1709:
1655:
1651:
1606:
1602:
1559:
1555:
1502:
1498:
1455:Nature Genetics
1447:
1443:
1427:
1426:
1390:
1386:
1370:
1369:
1327:
1323:
1268:
1261:
1214:
1210:
1163:
1159:
1154:
1114:
1058:
612:Werner syndrome
575:
570:
542:
530:
512:In the case of
510:
493:
464:
447:
445:Point mutations
423:
336:
293:(EMD gene) and
265:
225:
63:Muscle weakness
17:
12:
11:
5:
4112:
4102:
4101:
4096:
4091:
4086:
4081:
4076:
4071:
4054:
4053:
4045:
4042:
4041:
4039:
4038:
4021:
4020:
4015:
4005:
4004:
3999:
3989:
3988:
3983:
3978:
3968:
3966:
3962:
3961:
3959:
3958:
3946:
3943:Naxos syndrome
3934:
3933:
3932:
3927:
3914:
3912:
3906:
3905:
3903:
3902:
3887:
3886:
3881:
3876:
3866:
3864:
3858:
3857:
3854:
3853:
3851:
3850:
3845:
3839:
3837:
3833:
3832:
3830:
3829:
3824:
3819:
3813:
3811:
3805:
3804:
3802:
3801:
3796:
3790:
3788:
3779:
3773:
3772:
3769:
3768:
3766:
3765:
3764:
3763:
3758:
3750:
3749:
3748:
3743:
3735:
3734:
3733:
3725:
3724:
3723:
3718:
3713:
3708:
3700:
3688:
3686:
3682:
3681:
3679:
3678:
3673:
3668:
3658:
3656:
3652:
3651:
3649:
3648:
3638:
3637:
3627:
3626:
3621:
3611:
3609:
3605:
3604:
3602:
3601:
3596:
3591:
3573:
3563:
3553:
3543:
3533:
3523:
3513:
3503:
3493:
3483:
3473:
3463:
3462:
3461:
3456:
3451:
3440:hyperkeratosis
3424:
3422:
3415:
3409:
3408:
3405:
3404:
3402:
3401:
3400:
3399:
3394:
3389:
3384:
3374:
3373:
3372:
3367:
3356:
3354:
3350:
3349:
3346:
3345:
3343:
3342:
3336:
3334:
3328:
3327:
3325:
3324:
3319:
3313:
3311:
3305:
3304:
3302:
3301:
3296:
3290:
3288:
3282:
3281:
3279:
3278:
3273:
3268:
3263:
3258:
3253:
3247:
3245:
3239:
3238:
3236:
3235:
3230:
3225:
3220:
3214:
3212:
3203:
3194:
3192:Microfilaments
3188:
3187:
3179:
3178:
3171:
3164:
3156:
3150:
3149:
3143:
3142:
3139:
3138:
3126:
3125:
3123:
3119:
3118:
3115:
3114:
3102:
3097:
3096:
3094:
3093:Classification
3086:
3085:External links
3083:
3080:
3079:
3044:
3003:
2968:(6): 468–479.
2945:
2901:
2860:
2841:(3): 1006–13.
2824:
2783:
2760:10.1086/373938
2754:(4): 1013–17.
2734:
2693:
2670:10.1086/302869
2664:(4): 1407–12.
2640:
2596:
2561:
2526:
2503:10.1086/339274
2477:
2433:
2383:
2369:10.1038/ng1453
2362:(11): 1213–8.
2342:
2299:
2278:10.1038/nm1266
2255:
2206:
2167:Ann Intern Med
2156:
2135:10.1038/ng1872
2110:
2065:
1985:
1936:
1893:
1870:10.1086/341908
1841:
1818:10.1086/505885
1789:
1748:
1707:
1649:
1600:
1573:(3): 623–632.
1553:
1522:10.1086/373938
1496:
1461:(4): 410–414.
1441:
1406:10.1038/ng1872
1384:
1347:10.1086/505885
1341:(2): 383–389.
1335:Am J Hum Genet
1321:
1259:
1208:
1156:
1155:
1153:
1150:
1113:
1110:
1078:ACE inhibitors
1057:
1054:
1051:
1050:
1047:
1044:
1039:
1034:
1027:
1026:
1023:
1020:
1018:Myelodysplasia
1015:
1010:
1003:
1002:
999:
996:
987:
982:
975:
974:
971:
968:
959:
954:
947:
946:
943:
940:
923:
918:
914:
913:
910:
907:
905:cardiomyopathy
898:
893:
886:
885:
882:
879:
873:
868:
864:
863:
860:
857:
852:
847:
840:
839:
836:
833:
827:
822:
816:
815:
812:
809:
804:
799:
795:
794:
791:
788:
782:
777:
770:
769:
766:
763:
757:
752:
745:
744:
741:
738:
732:
727:
720:
719:
716:
713:
708:
703:
696:
695:
692:
689:
687:Cardiomyopathy
684:
679:
672:
671:
668:
665:
655:
650:
644:
643:
640:
637:
632:
627:
621:
620:
617:
614:
605:
600:
594:
593:
592:Identified in
590:
587:
584:
581:
574:
571:
569:
566:
541:
538:
529:
526:
509:
506:
492:
489:
463:
460:
446:
443:
422:
419:
344:nuclear lamina
335:
332:
264:
261:
249:leukodystrophy
224:
221:
209:nuclear lamina
180:
179:
176:
170:
169:
156:
150:
149:
132:
128:
127:
124:
118:
117:
114:
110:
109:
106:
102:
101:
98:
94:
93:
80:
74:
73:
60:
54:
53:
48:
42:
41:
33:
32:
24:
23:
15:
9:
6:
4:
3:
2:
4111:
4100:
4097:
4095:
4092:
4090:
4087:
4085:
4082:
4080:
4077:
4075:
4072:
4070:
4067:
4066:
4064:
4051:
4050:
4043:
4036:
4032:
4031:
4026:
4023:
4022:
4019:
4016:
4014:
4010:
4007:
4006:
4003:
4000:
3998:
3994:
3991:
3990:
3987:
3984:
3982:
3979:
3977:
3973:
3970:
3969:
3967:
3963:
3956:
3952:
3951:
3947:
3944:
3940:
3939:
3935:
3931:
3928:
3926:
3923:
3922:
3921:
3920:
3916:
3915:
3913:
3911:
3907:
3901:
3898:
3897:
3896:
3895:
3891:
3885:
3882:
3880:
3877:
3875:
3871:
3868:
3867:
3865:
3863:
3859:
3849:
3846:
3844:
3841:
3840:
3838:
3834:
3828:
3825:
3823:
3820:
3818:
3815:
3814:
3812:
3810:
3806:
3800:
3797:
3795:
3792:
3791:
3789:
3787:
3783:
3780:
3778:
3774:
3762:
3759:
3757:
3754:
3753:
3751:
3747:
3744:
3742:
3739:
3738:
3736:
3732:
3729:
3728:
3726:
3722:
3719:
3717:
3714:
3712:
3709:
3707:
3704:
3701:
3699:
3696:
3695:
3693:
3690:
3689:
3687:
3683:
3677:
3674:
3672:
3669:
3667:
3663:
3662:Neurofilament
3660:
3659:
3657:
3653:
3647:
3643:
3640:
3639:
3636:
3632:
3629:
3628:
3625:
3622:
3620:
3616:
3613:
3612:
3610:
3606:
3600:
3597:
3595:
3592:
3589:
3585:
3581:
3577:
3574:
3571:
3567:
3564:
3561:
3557:
3554:
3551:
3547:
3544:
3541:
3537:
3534:
3531:
3527:
3524:
3521:
3517:
3514:
3511:
3507:
3504:
3501:
3497:
3494:
3491:
3487:
3484:
3481:
3477:
3474:
3471:
3467:
3464:
3460:
3457:
3455:
3452:
3450:
3447:
3446:
3445:
3441:
3437:
3433:
3429:
3428:Keratinopathy
3426:
3425:
3423:
3419:
3416:
3414:
3410:
3398:
3395:
3393:
3390:
3388:
3385:
3383:
3382:FG syndrome 2
3380:
3379:
3378:
3375:
3371:
3368:
3366:
3363:
3362:
3361:
3358:
3357:
3355:
3351:
3341:
3338:
3337:
3335:
3333:
3329:
3323:
3320:
3318:
3315:
3314:
3312:
3310:
3306:
3300:
3297:
3295:
3292:
3291:
3289:
3287:
3283:
3277:
3274:
3272:
3269:
3267:
3264:
3262:
3259:
3257:
3254:
3252:
3249:
3248:
3246:
3244:
3240:
3234:
3231:
3229:
3226:
3224:
3221:
3219:
3216:
3215:
3213:
3211:
3207:
3204:
3202:
3198:
3195:
3193:
3189:
3184:
3177:
3172:
3170:
3165:
3163:
3158:
3157:
3154:
3148:
3147:
3137:
3133:
3132:
3128:
3127:
3124:
3120:
3113:
3109:
3108:
3104:
3103:
3100:
3095:
3091:
3075:
3071:
3067:
3063:
3060:(10): 480–7.
3059:
3055:
3048:
3040:
3036:
3031:
3026:
3022:
3018:
3014:
3007:
2999:
2995:
2991:
2987:
2983:
2979:
2975:
2971:
2967:
2963:
2956:
2949:
2941:
2937:
2933:
2929:
2925:
2924:10.1038/ng925
2921:
2917:
2913:
2905:
2897:
2893:
2888:
2883:
2879:
2875:
2871:
2864:
2856:
2852:
2848:
2844:
2840:
2836:
2828:
2820:
2816:
2811:
2806:
2803:(9): 1453–9.
2802:
2798:
2794:
2787:
2779:
2775:
2770:
2765:
2761:
2757:
2753:
2749:
2745:
2738:
2730:
2726:
2721:
2716:
2713:(1): 109–12.
2712:
2708:
2704:
2697:
2689:
2685:
2680:
2675:
2671:
2667:
2663:
2659:
2655:
2651:
2644:
2636:
2632:
2628:
2624:
2620:
2616:
2612:
2608:
2600:
2592:
2588:
2584:
2580:
2577:(3): 709–14.
2576:
2572:
2565:
2557:
2553:
2549:
2545:
2541:
2537:
2530:
2522:
2518:
2513:
2508:
2504:
2500:
2497:(3): 726–36.
2496:
2492:
2488:
2481:
2473:
2469:
2465:
2461:
2457:
2453:
2450:(5): 473–81.
2449:
2445:
2437:
2429:
2425:
2421:
2417:
2413:
2409:
2405:
2401:
2394:
2387:
2379:
2375:
2370:
2365:
2361:
2357:
2353:
2346:
2338:
2334:
2330:
2326:
2322:
2318:
2314:
2310:
2303:
2295:
2291:
2287:
2283:
2279:
2275:
2271:
2267:
2259:
2251:
2247:
2242:
2237:
2233:
2229:
2225:
2221:
2217:
2210:
2202:
2196:
2188:
2184:
2180:
2176:
2172:
2168:
2160:
2152:
2148:
2144:
2140:
2136:
2132:
2128:
2124:
2117:
2115:
2106:
2102:
2097:
2092:
2088:
2084:
2080:
2072:
2070:
2061:
2057:
2053:
2049:
2044:
2039:
2034:
2033:2027.42/62684
2029:
2025:
2021:
2017:
2013:
2009:
2005:
2001:
1994:
1992:
1990:
1981:
1977:
1972:
1967:
1963:
1959:
1955:
1951:
1947:
1940:
1932:
1928:
1924:
1920:
1916:
1912:
1908:
1904:
1897:
1889:
1885:
1880:
1875:
1871:
1867:
1864:(2): 426–31.
1863:
1859:
1855:
1848:
1846:
1837:
1833:
1828:
1823:
1819:
1815:
1811:
1807:
1803:
1796:
1794:
1785:
1781:
1776:
1771:
1768:(5): 675–86.
1767:
1763:
1759:
1752:
1744:
1740:
1735:
1730:
1726:
1722:
1718:
1711:
1703:
1699:
1694:
1689:
1685:
1681:
1677:
1673:
1669:
1665:
1661:
1653:
1645:
1641:
1637:
1633:
1628:
1623:
1619:
1615:
1611:
1604:
1596:
1592:
1588:
1584:
1580:
1576:
1572:
1568:
1564:
1557:
1549:
1545:
1540:
1535:
1531:
1527:
1523:
1519:
1515:
1511:
1507:
1500:
1492:
1488:
1484:
1480:
1476:
1472:
1468:
1467:10.1038/ng925
1464:
1460:
1456:
1452:
1445:
1437:
1431:
1423:
1419:
1415:
1411:
1407:
1403:
1399:
1395:
1388:
1380:
1374:
1366:
1362:
1357:
1352:
1348:
1344:
1340:
1336:
1332:
1325:
1317:
1313:
1308:
1303:
1298:
1293:
1289:
1285:
1281:
1277:
1273:
1266:
1264:
1255:
1251:
1246:
1241:
1236:
1231:
1227:
1223:
1219:
1212:
1204:
1200:
1195:
1190:
1185:
1180:
1176:
1172:
1171:BMC Cell Biol
1168:
1161:
1157:
1149:
1147:
1144:
1140:
1136:
1132:
1128:
1124:
1120:
1109:
1107:
1103:
1099:
1095:
1091:
1087:
1083:
1082:beta blockers
1079:
1075:
1074:heart failure
1071:
1067:
1063:
1048:
1045:
1043:
1040:
1038:
1035:
1032:
1029:
1024:
1021:
1019:
1016:
1014:
1011:
1008:
1005:
1000:
997:
995:
994:lipodystrophy
991:
988:
986:
983:
980:
977:
972:
969:
967:
966:lipodystrophy
963:
960:
958:
955:
952:
949:
944:
941:
939:
935:
931:
927:
924:
922:
919:
916:
911:
908:
906:
902:
899:
897:
894:
891:
888:
883:
880:
878:
874:
872:
869:
866:
861:
858:
856:
853:
851:
848:
845:
842:
837:
834:
832:
828:
826:
823:
821:
818:
813:
810:
808:
805:
803:
800:
797:
792:
789:
787:
783:
781:
778:
775:
772:
767:
764:
762:
758:
756:
753:
750:
747:
742:
739:
737:
733:
731:
728:
725:
722:
717:
714:
712:
709:
707:
704:
701:
698:
693:
690:
688:
685:
683:
680:
677:
674:
669:
666:
664:
660:
656:
654:
651:
649:
646:
641:
638:
636:
635:Lipodystrophy
633:
631:
628:
626:
623:
618:
615:
613:
609:
606:
604:
601:
599:
596:
578:
565:
563:
559:
555:
551:
547:
537:
535:
525:
523:
519:
515:
505:
503:
498:
488:
486:
481:
477:
473:
469:
459:
457:
453:
442:
438:
436:
432:
427:
418:
416:
412:
408:
404:
400:
399:farnesylation
396:
392:
388:
387:Messenger RNA
384:
382:
378:
374:
370:
369:muscle fibers
365:
361:
357:
353:
349:
345:
341:
331:
329:
326:caused by an
325:
320:
318:
314:
311:
307:
302:
300:
296:
292:
288:
283:
281:
276:
274:
270:
260:
258:
254:
250:
246:
242:
238:
234:
233:lipodystrophy
230:
220:
218:
215:are known as
214:
210:
206:
202:
198:
197:
192:
191:
186:
185:Laminopathies
177:
175:
171:
168:
164:
160:
159:ACE inhibitor
157:
155:
151:
148:
144:
140:
136:
135:Physiotherapy
133:
129:
125:
123:
119:
115:
111:
107:
103:
99:
95:
92:
88:
87:heart failure
84:
81:
79:
78:Complications
75:
72:
68:
64:
61:
59:
55:
52:
49:
47:
43:
39:
34:
30:
25:
20:
4046:
4028:
3948:
3936:
3917:
3888:
3777:Microtubules
3691:
3183:Cytoskeletal
3129:
3105:
3057:
3053:
3047:
3020:
3016:
3006:
2965:
2961:
2948:
2918:(4): 410–4.
2915:
2911:
2904:
2877:
2873:
2863:
2838:
2834:
2827:
2800:
2796:
2786:
2751:
2747:
2737:
2710:
2706:
2696:
2661:
2657:
2643:
2619:10.1038/6799
2613:(3): 285–8.
2610:
2606:
2599:
2574:
2570:
2564:
2542:(6): 801–8.
2539:
2535:
2529:
2494:
2490:
2480:
2447:
2443:
2436:
2403:
2399:
2386:
2359:
2355:
2345:
2312:
2308:
2302:
2272:(7): 780–5.
2269:
2265:
2258:
2223:
2219:
2209:
2195:cite journal
2173:(6): 829–3.
2170:
2166:
2159:
2126:
2122:
2086:
2082:
2007:
2003:
1953:
1949:
1939:
1906:
1902:
1896:
1861:
1857:
1812:(2): 383–9.
1809:
1805:
1765:
1761:
1751:
1724:
1720:
1710:
1667:
1663:
1652:
1620:(1): 61–69.
1617:
1613:
1603:
1570:
1566:
1556:
1513:
1509:
1499:
1458:
1454:
1444:
1430:cite journal
1397:
1393:
1387:
1373:cite journal
1338:
1334:
1324:
1279:
1275:
1225:
1221:
1211:
1174:
1170:
1160:
1135:osteoporosis
1115:
1088:, while the
1070:heart muscle
1059:
938:skin lesions
663:skin lesions
589:Mutation in
543:
531:
511:
494:
475:
465:
448:
439:
424:
385:
337:
321:
316:
303:
289:(LBR gene),
284:
277:
266:
243:, dermo- or
226:
216:
194:
188:
184:
183:
163:beta blocker
4009:plakophilin
3972:desmoplakin
3938:plakoglobin
3692:Laminopathy
3588:Monilethrix
3436:keratoderma
3309:Tropomyosin
3201:Myofilament
3017:J. Cell Sci
2910:anomaly)".
930:fatty liver
743:1996, 2000
522:fruit flies
411:amino acids
338:Lamins are
308:as well as
97:Usual onset
91:arrhythmias
22:Laminopathy
4063:Categories
4025:centrosome
3642:Peripherin
3112:D000083083
2444:Hum. Mutat
2220:Cell Cycle
1721:Cell Cycle
1670:(1): 478.
1152:References
1131:tipifarnib
1127:lonafarnib
1106:spasticity
1072:may cause
1042:Dermopathy
711:Neuropathy
540:DNA repair
395:translated
315:with rare
245:neuropathy
203:caused by
154:Medication
3843:Tauopathy
3432:keratosis
3360:Fibrillin
2982:1468-201X
1931:205309256
1684:2399-3642
1636:1460-2083
1587:0148-7299
1530:0002-9297
1475:1061-4036
1394:Nat Genet
1228:(1): 96.
1143:antisense
1094:pacemaker
1056:Treatment
990:Dysplasia
970:Lamin A/C
962:Dysplasia
942:Lamin A/C
909:Lamin A/C
859:Lamin A/C
831:dysplasia
829:Skeletal
811:Lamin A/C
790:Lamin A/C
765:Lamin A/C
715:Lamin A/C
691:Lamin A/C
659:dysplasia
657:Skeletal
616:Lamin A/C
586:Symptoms
580:Syndrome
568:Diagnosis
403:processed
306:recessive
241:dysplasia
205:mutations
174:Prognosis
143:pacemaker
131:Treatment
46:Specialty
4089:Diabetes
3870:Spectrin
3862:Membrane
3703:Dunnigan
3286:Troponin
3131:Orphanet
3074:16942914
3039:16899817
2990:29175975
2932:12118250
2896:12913070
2855:12629077
2819:10814726
2778:12618959
2729:10587585
2688:10739764
2627:10080180
2591:10673356
2521:11799477
2472:32614095
2464:12673789
2428:22942654
2420:10580070
2378:15489854
2337:21980784
2329:12927431
2294:11798376
2286:15980864
2266:Nat. Med
2250:21701264
2151:25336497
2143:16951681
2105:15317753
2052:12714972
2043:10540076
1980:22549407
1923:18348272
1888:12075506
1836:16826530
1784:17050008
1743:15611647
1702:33846535
1644:12490533
1548:12618959
1483:12118250
1422:25336497
1414:16951681
1365:16826530
1316:15232008
1254:19849840
1203:15982412
1112:Research
1102:seizures
1033:, lethal
855:Progeria
639:Lamin B2
608:Progeria
583:OMIM ID
558:progeria
497:protease
476:progerin
472:splicing
468:progeria
456:progeria
415:cysteine
328:X-linked
310:dominant
280:lamin B2
263:Genetics
253:progeria
237:diabetes
178:Variable
108:Lifelong
105:Duration
100:Variable
83:Diabetes
58:Symptoms
3993:plectin
3910:Catenin
3890:Ankyrin
3786:Kinesin
3694:: LMNA
3377:Filamin
3185:defects
2998:3563474
2940:6020153
2769:1180330
2679:1288205
2635:7327176
2556:8776595
2241:3180193
2187:3285745
2060:4420150
2012:Bibcode
1971:3476705
1827:1559499
1693:8041748
1595:3377005
1539:1180330
1491:6020153
1356:1559499
1284:Bibcode
1245:2770040
1194:1183198
1137:reduce
544:A-type
393:and is
317:de novo
313:alleles
275:gene).
190:lamino-
116:Genetic
71:syncope
3809:Dynein
3737:LEMD3
3615:Desmin
3243:Myosin
3228:DFNA20
3072:
3037:
2996:
2988:
2980:
2938:
2930:
2894:
2853:
2817:
2776:
2766:
2727:
2686:
2676:
2633:
2625:
2589:
2554:
2519:
2512:384949
2509:
2470:
2462:
2426:
2418:
2376:
2335:
2327:
2309:Lancet
2292:
2284:
2248:
2238:
2185:
2149:
2141:
2103:
2058:
2050:
2040:
2004:Nature
1978:
1968:
1929:
1921:
1886:
1879:379176
1876:
1834:
1824:
1782:
1741:
1700:
1690:
1682:
1642:
1634:
1593:
1585:
1546:
1536:
1528:
1489:
1481:
1473:
1420:
1412:
1363:
1353:
1314:
1307:478588
1304:
1252:
1242:
1201:
1191:
1177:: 27.
1037:275210
1013:169400
985:608612
957:248370
921:608056
896:159001
871:169500
850:176670
846:(HGPS)
825:215140
802:151660
780:604929
755:181350
730:310300
706:605588
682:607920
653:166700
630:608709
603:277700
546:lamins
518:dosage
364:muscle
356:plants
291:emerin
251:, and
196:-pathy
113:Causes
3965:Other
3836:Other
3727:LMNB
3584:KRT86
3580:KRT83
3576:KRT81
3566:KRT18
3556:KRT17
3546:KRT14
3536:KRT13
3526:KRT12
3516:KRT10
3466:KRT2E
3353:Other
3332:Titin
3210:Actin
3136:98301
2994:S2CID
2962:Heart
2958:(PDF)
2936:S2CID
2631:S2CID
2468:S2CID
2424:S2CID
2396:(PDF)
2333:S2CID
2290:S2CID
2147:S2CID
2056:S2CID
1927:S2CID
1487:S2CID
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