About: Effects of expressing lamin A mutant protein causing Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy in HeLa cells

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About: Effects of expressing lamin A mutant protein causing Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy in HeLa cells Goto Sponge NotDistinct Permalink

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scientific article published on 01 May 2003

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в травні 2003 (uk) im Mai 2003 veröffentlichter wissenschaftlicher Artikel (de) article scientifique publié en 2003 (fr) artículu científicu espublizáu en mayu de 2003 (ast) scientific article published on 01 May 2003 (en)
publication date	wds:Q73349012-EAC711D8-2630-41B9-88D0-2B36DFF1D30F
publication date	2003-05-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q73349012-1BEAB22D-AD09-41D9-B391-56ACE26D97AD
language of work or name	English
cites work	wds:Q73349012-07B56D01-1936-47CE-BB97-A1971E840E37 wds:Q73349012-105D791F-C5BE-48A0-B2B3-E9EE58C41A12 wds:Q73349012-12F7E4BB-DA43-42E1-8DB2-035B02280F36 wds:Q73349012-14594423-91B2-4103-B90C-BB79413EB5F4 wds:Q73349012-1484C056-97E4-4548-ACC9-B1F41838A4C0 wds:Q73349012-225975A8-E262-4485-9E93-84338E774F99 wds:Q73349012-2D323172-40BF-4DE3-B3CF-88AA56D9721E wds:Q73349012-43D25797-40F9-45CF-90C0-0DBBCE5CAFAB wds:Q73349012-4F95F735-74CD-47F2-B732-AC73F4A97209 wds:Q73349012-50B80E62-2D17-4830-8EC8-62BBAC657587 wds:Q73349012-56B22136-DE39-47CB-A675-85AF1C0778BF wds:Q73349012-585CE245-422B-4423-9762-179FE8014285 wds:Q73349012-5F533985-1907-4487-BC36-0CF1DBF6ACC8 wds:Q73349012-621D5AA9-3EBF-4C25-9939-5992A43BE8E8 wds:Q73349012-68B10DCA-B97C-4B00-A60A-924FD8A0A013 wds:Q73349012-6AFA8991-EE4B-4D98-81D0-9DEA7382234D wds:Q73349012-730CE438-F120-41BA-96B6-D116D057AEC7 wds:Q73349012-7EB73B14-A0F7-48DB-A7F0-2292BD46124A wds:Q73349012-868719ED-D667-415C-A59F-1BE27D2C66FD wds:Q73349012-8A2F8CA3-614C-484A-BBAB-91F3519B195D wds:Q73349012-8CFFA9B1-6D0D-470E-9605-41079BC87B14 wds:Q73349012-8E4F85EF-1A74-4BAA-9DA8-71601C962EED wds:Q73349012-8E9CD27D-0629-47B3-8BCE-18670D2D9A8D wds:Q73349012-95AE3C8F-FCBF-4D9D-B3ED-91DCCF6EEB8D wds:Q73349012-A8043F6E-7CDB-4B07-A2C9-513F6D2DBA75 wds:Q73349012-B3CF71E9-089C-4192-B6CA-BB07E50C8706 wds:Q73349012-B4F53F07-840A-4117-8EA5-A36F23E0DA7E wds:Q73349012-BE3F3E9F-2F3A-48F3-99E9-911891D49D82 wds:Q73349012-C0720E5E-116E-440F-A732-9FFE95206E52 wds:Q73349012-C0EB2771-9F45-46D6-9970-772726612F5D wds:Q73349012-D2BA1F79-D861-4637-B530-755718E32C01 wds:Q73349012-DDD5676C-6FC3-4396-B3B7-F2AC802E4890 wds:Q73349012-DEBB3FE6-3B92-4C76-8022-26B7F8CD2881 wds:Q73349012-E73B3146-8018-4994-BE0C-19D7EBB5FC50 wds:Q73349012-F9E4DF01-FCF6-4F7C-BC90-F8C562D4FCC5 wds:Q73349012-FDE133B9-35FA-46DC-9C99-4434F27C3BF9
cites work	Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy A lamin B receptor in the nuclear envelope cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins The nuclear envelope in muscular dystrophy and cardiovascular diseases Induction of nuclear lamins A/C in macrophages in in vitro cultures of rat bone marrow precursor cells and human blood monocytes, and in macrophages elicited in vivo by thioglycollate stimulation Xenopus embryos regulate the nuclear localization of XMyoD Direct interaction between emerin and lamin A Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylation Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B) 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 LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. The nuclear envelope, muscular dystrophy and gene expression Transcriptional repression, apoptosis, human disease and the functional evolution of the nuclear lamina Head and/or CaaX domain deletions of lamin proteins disrupt preformed lamin A and C but not lamin B structure in mammalian cells Nuclear lamins: their structure, assembly, and interactions cDNA cloning of a germ cell specific lamin B3 from mouse spermatocytes and analysis of its function by ectopic expression in somatic cells. An alternative splicing product of the lamin A/C gene lacks exon 10. The nuclear lamina is a meshwork of intermediate-type filaments Unusual type of benign x-linked muscular dystrophy Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy Immunocytochemical localization of the major polypeptides of the nuclear pore complex-lamina fraction. Interphase and mitotic distribution Functional organization of the nuclear envelope Teratocarcinoma stem cells and early mouse embryos contain only a single major lamin polypeptide closely resembling lamin B Incorporation of the nuclear pore basket protein nup153 into nuclear pore structures is dependent upon lamina assembly: evidence from cell-free extracts of Xenopus eggs Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C 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 Structure of the globular tail of nuclear lamin The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy A chromatin binding site in the tail domain of nuclear lamins that interacts with core histones The inner nuclear membrane Mutations in the LMNA gene encoding lamin A/C Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state Targeting lamin proteins to the nuclear envelope: the role of CaaX box modifications.
author name string	wds:Q73349012-107DC227-D367-47B7-BF40-60A0B514EB1D wds:Q73349012-1E3BEA43-B640-43A6-ADB1-84638B54595C wds:Q73349012-2DB008F3-CE44-4F24-B2FD-F54E4A634998 wds:Q73349012-3321A76C-F742-429E-81EC-3E80A6A3A8F9 wds:Q73349012-B968F78F-0614-40FA-BD8B-E7D52A2E8E4C
author name string	Klaus Weber Mariana Lagos-Quintana Mary Osborn Jens Harborth Kim Bechert
rdfs:label	Effects of expressing lamin A mutant protein causing Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy in HeLa cells (en) Effects of expressing lamin A mutant protein causing Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy in HeLa cells (nl)
skos:prefLabel	Effects of expressing lamin A mutant protein causing Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy in HeLa cells (en) Effects of expressing lamin A mutant protein causing Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy in HeLa cells (nl)
name	Effects of expressing lamin A mutant protein causing Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy in HeLa cells (en) Effects of expressing lamin A mutant protein causing Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy in HeLa cells (nl)
title	wds:Q73349012-12B05D65-83CE-4F65-BCC0-AE8E6850F992

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