(Q73349012)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12729796%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12729796%20AND%20SRC:MED&resulttype=core&format=json

familial partial lipodystrophy

3 November 2019

main subject

1 reference

based on heuristic

inferred from title

Emery-Dreifuss muscular dystrophy

1 reference

Kim Bechert

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12729796%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Mariana Lagos-Quintana

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12729796%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Jens Harborth

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12729796%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Klaus Weber

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12729796%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Mary Osborn

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12729796%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

language of work or name

English

0 references

publication date

1 May 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12729796%20AND%20SRC:MED&resulttype=core&format=json

Experimental Cell Research

3 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12729796%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

volume

286

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12729796%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12729796%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

page(s)

75-86

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12729796%20AND%20SRC:MED&resulttype=core&format=json

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

3 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

Unusual type of benign x-linked muscular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state

7 January 2021

2 references

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

7 January 2021

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

inferred from DOI database lookup

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

Mutations in the LMNA gene encoding lamin A/C

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

An alternative splicing product of the lamin A/C gene lacks exon 10.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

Teratocarcinoma stem cells and early mouse embryos contain only a single major lamin polypeptide closely resembling lamin B

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

Functional organization of the nuclear envelope

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

Nuclear lamins: their structure, assembly, and interactions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

The inner nuclear membrane

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

cDNA cloning of a germ cell specific lamin B3 from mouse spermatocytes and analysis of its function by ectopic expression in somatic cells.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

Immunocytochemical localization of the major polypeptides of the nuclear pore complex-lamina fraction. Interphase and mitotic distribution

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

The nuclear lamina is a meshwork of intermediate-type filaments

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

Transcriptional repression, apoptosis, human disease and the functional evolution of the nuclear lamina

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

The nuclear envelope in muscular dystrophy and cardiovascular diseases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

Direct interaction between emerin and lamin A

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

A lamin B receptor in the nuclear envelope

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

A chromatin binding site in the tail domain of nuclear lamins that interacts with core histones

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

Xenopus embryos regulate the nuclear localization of XMyoD

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

Structure of the globular tail of nuclear lamin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

Head and/or CaaX domain deletions of lamin proteins disrupt preformed lamin A and C but not lamin B structure in mammalian cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

Targeting lamin proteins to the nuclear envelope: the role of CaaX box modifications.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

The nuclear envelope, muscular dystrophy and gene expression

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900104-6

10.1016/S0014-4827(03)00104-6

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12729796%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference