Laminopathy (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Laminopathy" in English language version.

refsWebsite

Global rank English rank

54nih.gov

4^th place

44doi.org

2^nd place

12semanticscholar.org

11^th place

8^th place

6worldcat.org

5^th place

2harvard.edu

18^th place

17^th place

1handle.net

102^nd place

76^th place

1archives-ouvertes.fr

1,031^st place

879^th place

1uq.edu.au

3,558^th place

2,403^rd place

1sorbonne-universite.fr

low place

archives-ouvertes.fr

hal-amu.archives-ouvertes.fr

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). "Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identity restrictive dermopathy as a lethal neonatal laminopathy". Hum. Mol. Genet. 13 (20): 2493–2503. doi:10.1093/hmg/ddh265. PMID 15317753.

doi.org

Paradisi M, McClintock D, Boguslavsky RL, Pedicelli C, Worman HJ, Djabali K (2005). "Dermal fibroblasts in Hutchinson–Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress". BMC Cell Biol. 6: 27. doi:10.1186/1471-2121-6-27. PMC 1183198. PMID 15982412.
Chi, YH; Chen, ZJ; Jeang, KT (22 October 2009). "The nuclear envelopathies and human diseases". Journal of Biomedical Science. 16 (1): 96. doi:10.1186/1423-0127-16-96. PMC 2770040. PMID 19849840.
Vergnes L, Peterfy M, Bergo MO, Young SG, Reue K (2004). "Lamin B1 is required for mouse development and nuclear integrity". Proc. Natl. Acad. Sci. U.S.A. 101 (28): 10428–33. Bibcode:2004PNAS..10110428V. doi:10.1073/pnas.0401424101. PMC 478588. PMID 15232008.
Hegele RA, Cao H, Liu DM, Costain GA, Charlton-Menys V, Rodger NW, Durrington PN (2006). "Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy". Am J Hum Genet. 79 (2): 383–389. doi:10.1086/505885. PMC 1559499. PMID 16826530.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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". Nat Genet. 38 (10): 1114–1123. doi:10.1038/ng1872. PMID 16951681. S2CID 25336497.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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). "Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger–Huët anomaly)". Nature Genetics. 31 (4): 410–414. doi:10.1038/ng925. ISSN 1061-4036. PMID 12118250. S2CID 6020153.
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). "Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3β-Hydroxysterol Δ14-Reductase Deficiency Due to Mutations in the Lamin B Receptor Gene". The American Journal of Human Genetics. 72 (4): 1013–1017. doi:10.1086/373938. ISSN 0002-9297. PMC 1180330. PMID 12618959.
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). "A new autosomal recessive lethal chondrodystrophy with congenital hydrops". American Journal of Medical Genetics. 29 (3): 623–632. doi:10.1002/ajmg.1320290321. ISSN 0148-7299. PMID 3377005.
Shultz, L. D. (2003-01-01). "Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huet anomaly". Human Molecular Genetics. 12 (1): 61–69. doi:10.1093/hmg/ddg003. ISSN 1460-2083. PMID 12490533.
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). "Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation". Communications Biology. 4 (1): 478. doi:10.1038/s42003-021-01944-2. ISSN 2399-3642. PMC 8041748. PMID 33846535.
Mans BJ, Anantharaman V, Aravind L, Koonin EV (2004). "Comparative genomics, evolution and origins of the nuclear envelope and nuclear pore complex". Cell Cycle. 3 (12): 1612–37. doi:10.4161/cc.3.12.1316. PMID 15611647.
Houben F, Ramaekers FC, Snoeckx LH, Broers JL (May 2007). "Role of nuclear lamina-cytoskeleton interactions in the maintenance of cellular strength". Biochim. Biophys. Acta. 1773 (5): 675–86. doi:10.1016/j.bbamcr.2006.09.018. PMID 17050008.
Hegele RA, Cao H, Liu DM, Costain GA, Charlton-Menys V, Rodger NW, Durrington PN (2006). "Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy". Am. J. Hum. Genet. 79 (2): 383–9. doi:10.1086/505885. PMC 1559499. PMID 16826530.
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). "Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C". Am. J. Hum. Genet. 71 (2): 426–31. doi:10.1086/341908. PMC 379176. PMID 12075506.
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". Am J Med Genet A. 146A (8): 1049–1054. doi:10.1002/ajmg.a.32259. PMID 18348272. S2CID 205309256.
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). "A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome". Eur J Hum Genet. 20 (11): 1134–40. doi:10.1038/ejhg.2012.77. PMC 3476705. PMID 22549407.
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). "Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome". Nature. 423 (6937): 293–8. Bibcode:2003Natur.423..293E. doi:10.1038/nature01629. hdl:2027.42/62684. PMC 10540076. PMID 12714972. S2CID 4420150.
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). "Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identity restrictive dermopathy as a lethal neonatal laminopathy". Hum. Mol. Genet. 13 (20): 2493–2503. doi:10.1093/hmg/ddh265. PMID 15317753.
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". Nature Genetics. 38 (10): 1114–1123. doi:10.1038/ng1872. PMID 16951681. S2CID 25336497.
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". Ann Intern Med. 108 (6): 829–3. doi:10.7326/0003-4819-108-6-829. PMID 3285745.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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). "A dual role for A-type lamins in DNA double-strand break repair". Cell Cycle. 10 (15): 2549–60. doi:10.4161/cc.10.15.16531. PMC 3180193. PMID 21701264.
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, López-Otín C, Tse HF, Hutchison C, Chen J, Cao Y, Cheah KS, Tryggvason K, Zhou Z (2005). "Genomic instability in laminopathy-based premature aging". Nat. Med. 11 (7): 780–5. doi:10.1038/nm1266. PMID 15980864. S2CID 11798376.
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". Lancet. 362 (9382): 440–5. doi:10.1016/S0140-6736(03)14069-X. PMID 12927431. S2CID 21980784.
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). "Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke–Ollendorff syndrome and melorheostosis". Nature Genetics. 36 (11): 1213–8. doi:10.1038/ng1453. PMID 15489854.
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). "Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease" (PDF). N. Engl. J. Med. 341 (23): 1715–24. doi:10.1056/NEJM199912023412302. PMID 10580070. S2CID 22942654.
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". Hum. Mutat. 21 (5): 473–81. doi:10.1002/humu.10170. PMID 12673789. S2CID 32614095.
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). "Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot–Marie–Tooth disorder type 2) and mouse". Am. J. Hum. Genet. 70 (3): 726–36. doi:10.1086/339274. PMC 384949. PMID 11799477.
Manilal S, Nguyen TM, Sewry CA, Morris GE (1996). "The Emery–Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein". Hum. Mol. Genet. 5 (6): 801–8. doi:10.1093/hmg/5.6.801. PMID 8776595.
Clements L, Manilal S, Love DR, Morris GE (2000). "Direct interaction between emerin and lamin A". Biochem. Biophys. Res. Commun. 267 (3): 709–14. doi:10.1006/bbrc.1999.2023. PMID 10673356.
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". Nature Genetics. 21 (3): 285–8. doi:10.1038/6799. PMID 10080180. S2CID 7327176.
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, Hausmanowa-Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D (2000). "Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery–Dreifuss muscular dystrophy". Am. J. Hum. Genet. 66 (4): 1407–12. doi:10.1086/302869. PMC 1288205. PMID 10739764.
Cao H, Hegele RA (2002). "Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy". Hum. Mol. Genet. 9 (1): 109–12. doi:10.1093/hmg/9.1.109. PMID 10587585.
Waterham HR, Koster J, Mooyer P, van Noort G, Kelley RI, Wilcox WR, Wanders RJ, Hennekam RC, Oosterwijk JC (2003). "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". Am. J. Hum. Genet. 72 (4): 1013–17. doi:10.1086/373938. PMC 1180330. PMID 12618959.
Muchir A, Bonne G, van der Kooi AJ, van Meegen M, Baas F, Bolhuis PA, de Visser M, Schwartz K (2000). "Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)". Hum. Mol. Genet. 9 (9): 1453–9. doi:10.1093/hmg/9.9.1453. PMID 10814726.
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 leukomelanodermic papules, liver steatosis, and cardiomyopathy". J. Clin. Endocrinol. Metab. 88 (3): 1006–13. doi:10.1210/jc.2002-021506. PMID 12629077.
Agarwal AK, Fryns JP, Auchus RJ, Garg A (2003). "Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia". Hum. Mol. Genet. 12 (16): 1995–2001. doi:10.1093/hmg/ddg213. PMID 12913070.
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 anomaly)". Nature Genetics. 31 (4): 410–4. doi:10.1038/ng925. PMID 12118250. S2CID 6020153.
Captur, Gabriella; Arbustini, Eloisa; Bonne, Gisèle; Syrris, Petros; Mills, Kevin; Wahbi, Karim; Mohiddin, Saidi A.; McKenna, William J.; Pettit, Stephen (2017-11-25). "Lamin and the heart" (PDF). Heart. 104 (6): 468–479. doi:10.1136/heartjnl-2017-312338. ISSN 1468-201X. PMID 29175975. S2CID 3563474.
Rusinal AE, Sinensky MS (2006). "Farnesylated lamins, progeroid syndromes and farnesyl transferase inhibitors". J. Cell Sci. 119 (Pt 16): 3265–72. doi:10.1242/jcs.03156. PMID 16899817.
Meta M, Yang SH, Bergo MO, Fong LG, Young SG (2006). "Protein farnesyltransferase inhibitors and progeria". Trends Mol. Med. 12 (10): 480–7. doi:10.1016/j.molmed.2006.08.006. PMID 16942914.

dx.doi.org

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). "Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger–Huët anomaly)". Nature Genetics. 31 (4): 410–414. doi:10.1038/ng925. ISSN 1061-4036. PMID 12118250. S2CID 6020153.
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). "Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3β-Hydroxysterol Δ14-Reductase Deficiency Due to Mutations in the Lamin B Receptor Gene". The American Journal of Human Genetics. 72 (4): 1013–1017. doi:10.1086/373938. ISSN 0002-9297. PMC 1180330. PMID 12618959.
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). "A new autosomal recessive lethal chondrodystrophy with congenital hydrops". American Journal of Medical Genetics. 29 (3): 623–632. doi:10.1002/ajmg.1320290321. ISSN 0148-7299. PMID 3377005.
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). "Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation". Communications Biology. 4 (1): 478. doi:10.1038/s42003-021-01944-2. ISSN 2399-3642. PMC 8041748. PMID 33846535.

handle.net

hdl.handle.net

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). "Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome". Nature. 423 (6937): 293–8. Bibcode:2003Natur.423..293E. doi:10.1038/nature01629. hdl:2027.42/62684. PMC 10540076. PMID 12714972. S2CID 4420150.

harvard.edu

ui.adsabs.harvard.edu

Vergnes L, Peterfy M, Bergo MO, Young SG, Reue K (2004). "Lamin B1 is required for mouse development and nuclear integrity". Proc. Natl. Acad. Sci. U.S.A. 101 (28): 10428–33. Bibcode:2004PNAS..10110428V. doi:10.1073/pnas.0401424101. PMC 478588. PMID 15232008.
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). "Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome". Nature. 423 (6937): 293–8. Bibcode:2003Natur.423..293E. doi:10.1038/nature01629. hdl:2027.42/62684. PMC 10540076. PMID 12714972. S2CID 4420150.

nih.gov

pubmed.ncbi.nlm.nih.gov

Paradisi M, McClintock D, Boguslavsky RL, Pedicelli C, Worman HJ, Djabali K (2005). "Dermal fibroblasts in Hutchinson–Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress". BMC Cell Biol. 6: 27. doi:10.1186/1471-2121-6-27. PMC 1183198. PMID 15982412.
Chi, YH; Chen, ZJ; Jeang, KT (22 October 2009). "The nuclear envelopathies and human diseases". Journal of Biomedical Science. 16 (1): 96. doi:10.1186/1423-0127-16-96. PMC 2770040. PMID 19849840.
Vergnes L, Peterfy M, Bergo MO, Young SG, Reue K (2004). "Lamin B1 is required for mouse development and nuclear integrity". Proc. Natl. Acad. Sci. U.S.A. 101 (28): 10428–33. Bibcode:2004PNAS..10110428V. doi:10.1073/pnas.0401424101. PMC 478588. PMID 15232008.
Hegele RA, Cao H, Liu DM, Costain GA, Charlton-Menys V, Rodger NW, Durrington PN (2006). "Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy". Am J Hum Genet. 79 (2): 383–389. doi:10.1086/505885. PMC 1559499. PMID 16826530.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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". Nat Genet. 38 (10): 1114–1123. doi:10.1038/ng1872. PMID 16951681. S2CID 25336497.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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). "Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger–Huët anomaly)". Nature Genetics. 31 (4): 410–414. doi:10.1038/ng925. ISSN 1061-4036. PMID 12118250. S2CID 6020153.
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). "Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3β-Hydroxysterol Δ14-Reductase Deficiency Due to Mutations in the Lamin B Receptor Gene". The American Journal of Human Genetics. 72 (4): 1013–1017. doi:10.1086/373938. ISSN 0002-9297. PMC 1180330. PMID 12618959.
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). "A new autosomal recessive lethal chondrodystrophy with congenital hydrops". American Journal of Medical Genetics. 29 (3): 623–632. doi:10.1002/ajmg.1320290321. ISSN 0148-7299. PMID 3377005.
Shultz, L. D. (2003-01-01). "Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huet anomaly". Human Molecular Genetics. 12 (1): 61–69. doi:10.1093/hmg/ddg003. ISSN 1460-2083. PMID 12490533.
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). "Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation". Communications Biology. 4 (1): 478. doi:10.1038/s42003-021-01944-2. ISSN 2399-3642. PMC 8041748. PMID 33846535.
Mans BJ, Anantharaman V, Aravind L, Koonin EV (2004). "Comparative genomics, evolution and origins of the nuclear envelope and nuclear pore complex". Cell Cycle. 3 (12): 1612–37. doi:10.4161/cc.3.12.1316. PMID 15611647.
Houben F, Ramaekers FC, Snoeckx LH, Broers JL (May 2007). "Role of nuclear lamina-cytoskeleton interactions in the maintenance of cellular strength". Biochim. Biophys. Acta. 1773 (5): 675–86. doi:10.1016/j.bbamcr.2006.09.018. PMID 17050008.
Hegele RA, Cao H, Liu DM, Costain GA, Charlton-Menys V, Rodger NW, Durrington PN (2006). "Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy". Am. J. Hum. Genet. 79 (2): 383–9. doi:10.1086/505885. PMC 1559499. PMID 16826530.
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). "Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C". Am. J. Hum. Genet. 71 (2): 426–31. doi:10.1086/341908. PMC 379176. PMID 12075506.
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". Am J Med Genet A. 146A (8): 1049–1054. doi:10.1002/ajmg.a.32259. PMID 18348272. S2CID 205309256.
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). "A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome". Eur J Hum Genet. 20 (11): 1134–40. doi:10.1038/ejhg.2012.77. PMC 3476705. PMID 22549407.
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). "Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome". Nature. 423 (6937): 293–8. Bibcode:2003Natur.423..293E. doi:10.1038/nature01629. hdl:2027.42/62684. PMC 10540076. PMID 12714972. S2CID 4420150.
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). "Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identity restrictive dermopathy as a lethal neonatal laminopathy". Hum. Mol. Genet. 13 (20): 2493–2503. doi:10.1093/hmg/ddh265. PMID 15317753.
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". Nature Genetics. 38 (10): 1114–1123. doi:10.1038/ng1872. PMID 16951681. S2CID 25336497.
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". Ann Intern Med. 108 (6): 829–3. doi:10.7326/0003-4819-108-6-829. PMID 3285745.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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). "A dual role for A-type lamins in DNA double-strand break repair". Cell Cycle. 10 (15): 2549–60. doi:10.4161/cc.10.15.16531. PMC 3180193. PMID 21701264.
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, López-Otín C, Tse HF, Hutchison C, Chen J, Cao Y, Cheah KS, Tryggvason K, Zhou Z (2005). "Genomic instability in laminopathy-based premature aging". Nat. Med. 11 (7): 780–5. doi:10.1038/nm1266. PMID 15980864. S2CID 11798376.
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". Lancet. 362 (9382): 440–5. doi:10.1016/S0140-6736(03)14069-X. PMID 12927431. S2CID 21980784.
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). "Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke–Ollendorff syndrome and melorheostosis". Nature Genetics. 36 (11): 1213–8. doi:10.1038/ng1453. PMID 15489854.
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). "Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease" (PDF). N. Engl. J. Med. 341 (23): 1715–24. doi:10.1056/NEJM199912023412302. PMID 10580070. S2CID 22942654.
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". Hum. Mutat. 21 (5): 473–81. doi:10.1002/humu.10170. PMID 12673789. S2CID 32614095.
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). "Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot–Marie–Tooth disorder type 2) and mouse". Am. J. Hum. Genet. 70 (3): 726–36. doi:10.1086/339274. PMC 384949. PMID 11799477.
Manilal S, Nguyen TM, Sewry CA, Morris GE (1996). "The Emery–Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein". Hum. Mol. Genet. 5 (6): 801–8. doi:10.1093/hmg/5.6.801. PMID 8776595.
Clements L, Manilal S, Love DR, Morris GE (2000). "Direct interaction between emerin and lamin A". Biochem. Biophys. Res. Commun. 267 (3): 709–14. doi:10.1006/bbrc.1999.2023. PMID 10673356.
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". Nature Genetics. 21 (3): 285–8. doi:10.1038/6799. PMID 10080180. S2CID 7327176.
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, Hausmanowa-Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D (2000). "Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery–Dreifuss muscular dystrophy". Am. J. Hum. Genet. 66 (4): 1407–12. doi:10.1086/302869. PMC 1288205. PMID 10739764.
Cao H, Hegele RA (2002). "Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy". Hum. Mol. Genet. 9 (1): 109–12. doi:10.1093/hmg/9.1.109. PMID 10587585.
Waterham HR, Koster J, Mooyer P, van Noort G, Kelley RI, Wilcox WR, Wanders RJ, Hennekam RC, Oosterwijk JC (2003). "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". Am. J. Hum. Genet. 72 (4): 1013–17. doi:10.1086/373938. PMC 1180330. PMID 12618959.
Muchir A, Bonne G, van der Kooi AJ, van Meegen M, Baas F, Bolhuis PA, de Visser M, Schwartz K (2000). "Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)". Hum. Mol. Genet. 9 (9): 1453–9. doi:10.1093/hmg/9.9.1453. PMID 10814726.
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 leukomelanodermic papules, liver steatosis, and cardiomyopathy". J. Clin. Endocrinol. Metab. 88 (3): 1006–13. doi:10.1210/jc.2002-021506. PMID 12629077.
Agarwal AK, Fryns JP, Auchus RJ, Garg A (2003). "Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia". Hum. Mol. Genet. 12 (16): 1995–2001. doi:10.1093/hmg/ddg213. PMID 12913070.
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 anomaly)". Nature Genetics. 31 (4): 410–4. doi:10.1038/ng925. PMID 12118250. S2CID 6020153.
Captur, Gabriella; Arbustini, Eloisa; Bonne, Gisèle; Syrris, Petros; Mills, Kevin; Wahbi, Karim; Mohiddin, Saidi A.; McKenna, William J.; Pettit, Stephen (2017-11-25). "Lamin and the heart" (PDF). Heart. 104 (6): 468–479. doi:10.1136/heartjnl-2017-312338. ISSN 1468-201X. PMID 29175975. S2CID 3563474.
Rusinal AE, Sinensky MS (2006). "Farnesylated lamins, progeroid syndromes and farnesyl transferase inhibitors". J. Cell Sci. 119 (Pt 16): 3265–72. doi:10.1242/jcs.03156. PMID 16899817.
Meta M, Yang SH, Bergo MO, Fong LG, Young SG (2006). "Protein farnesyltransferase inhibitors and progeria". Trends Mol. Med. 12 (10): 480–7. doi:10.1016/j.molmed.2006.08.006. PMID 16942914.

ncbi.nlm.nih.gov

Paradisi M, McClintock D, Boguslavsky RL, Pedicelli C, Worman HJ, Djabali K (2005). "Dermal fibroblasts in Hutchinson–Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress". BMC Cell Biol. 6: 27. doi:10.1186/1471-2121-6-27. PMC 1183198. PMID 15982412.
Chi, YH; Chen, ZJ; Jeang, KT (22 October 2009). "The nuclear envelopathies and human diseases". Journal of Biomedical Science. 16 (1): 96. doi:10.1186/1423-0127-16-96. PMC 2770040. PMID 19849840.
Vergnes L, Peterfy M, Bergo MO, Young SG, Reue K (2004). "Lamin B1 is required for mouse development and nuclear integrity". Proc. Natl. Acad. Sci. U.S.A. 101 (28): 10428–33. Bibcode:2004PNAS..10110428V. doi:10.1073/pnas.0401424101. PMC 478588. PMID 15232008.
Hegele RA, Cao H, Liu DM, Costain GA, Charlton-Menys V, Rodger NW, Durrington PN (2006). "Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy". Am J Hum Genet. 79 (2): 383–389. doi:10.1086/505885. PMC 1559499. PMID 16826530.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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). "Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3β-Hydroxysterol Δ14-Reductase Deficiency Due to Mutations in the Lamin B Receptor Gene". The American Journal of Human Genetics. 72 (4): 1013–1017. doi:10.1086/373938. ISSN 0002-9297. PMC 1180330. PMID 12618959.
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). "Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation". Communications Biology. 4 (1): 478. doi:10.1038/s42003-021-01944-2. ISSN 2399-3642. PMC 8041748. PMID 33846535.
Hegele RA, Cao H, Liu DM, Costain GA, Charlton-Menys V, Rodger NW, Durrington PN (2006). "Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy". Am. J. Hum. Genet. 79 (2): 383–9. doi:10.1086/505885. PMC 1559499. PMID 16826530.
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). "Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C". Am. J. Hum. Genet. 71 (2): 426–31. doi:10.1086/341908. PMC 379176. PMID 12075506.
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). "A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome". Eur J Hum Genet. 20 (11): 1134–40. doi:10.1038/ejhg.2012.77. PMC 3476705. PMID 22549407.
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). "Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome". Nature. 423 (6937): 293–8. Bibcode:2003Natur.423..293E. doi:10.1038/nature01629. hdl:2027.42/62684. PMC 10540076. PMID 12714972. S2CID 4420150.
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). "A dual role for A-type lamins in DNA double-strand break repair". Cell Cycle. 10 (15): 2549–60. doi:10.4161/cc.10.15.16531. PMC 3180193. PMID 21701264.
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). "Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot–Marie–Tooth disorder type 2) and mouse". Am. J. Hum. Genet. 70 (3): 726–36. doi:10.1086/339274. PMC 384949. PMID 11799477.
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, Hausmanowa-Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D (2000). "Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery–Dreifuss muscular dystrophy". Am. J. Hum. Genet. 66 (4): 1407–12. doi:10.1086/302869. PMC 1288205. PMID 10739764.
Waterham HR, Koster J, Mooyer P, van Noort G, Kelley RI, Wilcox WR, Wanders RJ, Hennekam RC, Oosterwijk JC (2003). "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". Am. J. Hum. Genet. 72 (4): 1013–17. doi:10.1086/373938. PMC 1180330. PMID 12618959.

semanticscholar.org

api.semanticscholar.org

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". Nat Genet. 38 (10): 1114–1123. doi:10.1038/ng1872. PMID 16951681. S2CID 25336497.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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). "Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger–Huët anomaly)". Nature Genetics. 31 (4): 410–414. doi:10.1038/ng925. ISSN 1061-4036. PMID 12118250. S2CID 6020153.
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". Am J Med Genet A. 146A (8): 1049–1054. doi:10.1002/ajmg.a.32259. PMID 18348272. S2CID 205309256.
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). "Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome". Nature. 423 (6937): 293–8. Bibcode:2003Natur.423..293E. doi:10.1038/nature01629. hdl:2027.42/62684. PMC 10540076. PMID 12714972. S2CID 4420150.
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". Nature Genetics. 38 (10): 1114–1123. doi:10.1038/ng1872. PMID 16951681. S2CID 25336497.
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, López-Otín C, Tse HF, Hutchison C, Chen J, Cao Y, Cheah KS, Tryggvason K, Zhou Z (2005). "Genomic instability in laminopathy-based premature aging". Nat. Med. 11 (7): 780–5. doi:10.1038/nm1266. PMID 15980864. S2CID 11798376.
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". Lancet. 362 (9382): 440–5. doi:10.1016/S0140-6736(03)14069-X. PMID 12927431. S2CID 21980784.
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). "Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease" (PDF). N. Engl. J. Med. 341 (23): 1715–24. doi:10.1056/NEJM199912023412302. PMID 10580070. S2CID 22942654.
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". Hum. Mutat. 21 (5): 473–81. doi:10.1002/humu.10170. PMID 12673789. S2CID 32614095.
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". Nature Genetics. 21 (3): 285–8. doi:10.1038/6799. PMID 10080180. S2CID 7327176.
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 anomaly)". Nature Genetics. 31 (4): 410–4. doi:10.1038/ng925. PMID 12118250. S2CID 6020153.
Captur, Gabriella; Arbustini, Eloisa; Bonne, Gisèle; Syrris, Petros; Mills, Kevin; Wahbi, Karim; Mohiddin, Saidi A.; McKenna, William J.; Pettit, Stephen (2017-11-25). "Lamin and the heart" (PDF). Heart. 104 (6): 468–479. doi:10.1136/heartjnl-2017-312338. ISSN 1468-201X. PMID 29175975. S2CID 3563474.

sorbonne-universite.fr

hal.sorbonne-universite.fr

Captur, Gabriella; Arbustini, Eloisa; Bonne, Gisèle; Syrris, Petros; Mills, Kevin; Wahbi, Karim; Mohiddin, Saidi A.; McKenna, William J.; Pettit, Stephen (2017-11-25). "Lamin and the heart" (PDF). Heart. 104 (6): 468–479. doi:10.1136/heartjnl-2017-312338. ISSN 1468-201X. PMID 29175975. S2CID 3563474.

uq.edu.au

espace.library.uq.edu.au

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). "Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease" (PDF). N. Engl. J. Med. 341 (23): 1715–24. doi:10.1056/NEJM199912023412302. PMID 10580070. S2CID 22942654.

worldcat.org

search.worldcat.org

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). "Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger–Huët anomaly)". Nature Genetics. 31 (4): 410–414. doi:10.1038/ng925. ISSN 1061-4036. PMID 12118250. S2CID 6020153.
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). "Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3β-Hydroxysterol Δ14-Reductase Deficiency Due to Mutations in the Lamin B Receptor Gene". The American Journal of Human Genetics. 72 (4): 1013–1017. doi:10.1086/373938. ISSN 0002-9297. PMC 1180330. PMID 12618959.
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). "A new autosomal recessive lethal chondrodystrophy with congenital hydrops". American Journal of Medical Genetics. 29 (3): 623–632. doi:10.1002/ajmg.1320290321. ISSN 0148-7299. PMID 3377005.
Shultz, L. D. (2003-01-01). "Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huet anomaly". Human Molecular Genetics. 12 (1): 61–69. doi:10.1093/hmg/ddg003. ISSN 1460-2083. PMID 12490533.
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). "Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation". Communications Biology. 4 (1): 478. doi:10.1038/s42003-021-01944-2. ISSN 2399-3642. PMC 8041748. PMID 33846535.
Captur, Gabriella; Arbustini, Eloisa; Bonne, Gisèle; Syrris, Petros; Mills, Kevin; Wahbi, Karim; Mohiddin, Saidi A.; McKenna, William J.; Pettit, Stephen (2017-11-25). "Lamin and the heart" (PDF). Heart. 104 (6): 468–479. doi:10.1136/heartjnl-2017-312338. ISSN 1468-201X. PMID 29175975. S2CID 3563474.