(Q46447976)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843403%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

title

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843403%20AND%20SRC:MED&resulttype=core&format=json

Annachiara De Sandre-Giovannoli

11 January 2020

main subject

restrictive dermopathy

1 reference

based on heuristic

inferred from title

author

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843403%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843403%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843403%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843403%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843403%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843403%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Pierre Cau

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843403%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Rafaëlle Bernard

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843403%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Sébastien Courrier

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843403%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Irène Boccaccio

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843403%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Amandine Boyer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843403%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Wim J Kleijer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843403%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Anja Wagner

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843403%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Fabienne Giuliano

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843403%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Frits A Beemer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843403%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Raoul C M Hennekam

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843403%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Catherine Badens

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843403%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

publication date

20 April 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843403%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

published in

Human Molecular Genetics

1 reference

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11 January 2020

volume

1 reference

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11 January 2020

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843403%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

page(s)

1503-1513

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843403%20AND%20SRC:MED&resulttype=core&format=json

Restrictive dermopathy: a newly recognized autosomal recessive skin dysplasia

11 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI159

Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasias: three new cases and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI159

Restrictive dermopathy: Report and review

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI159

Lamin a truncation in Hutchinson-Gilford progeria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI159

Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI159

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI159

Identification and chromosomal location of two human genes encoding enzymes potentially involved in proteolytic maturation of farnesylated proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI159

Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase-deficient mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI159

Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI159

Prelamin A endoproteolytic processing in vitro by recombinant Zmpste24

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI159

A-type lamins: guardians of the soma?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI159

The nucleoskeleton: lamins and actin are major players in essential nuclear functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI159

Isoprenylation is required for the processing of the lamin A precursor

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI159

Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI159

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI159

The laminopathies: nuclear structure meets disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI159

Aging and nuclear organization: lamins and progeria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI159

The strange case of the "lumper" lamin A/C gene and human premature ageing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI159

Prenylated prelamin A interacts with Narf, a novel nuclear protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI159

Signal-mediated sorting of membrane proteins between the endoplasmic reticulum and the golgi apparatus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI159

Ligase-based detection of mononucleotide repeat sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI159

Bias in detection of instability of the (C)8 mononucleotide repeat of MSH6 in tumours from HNPCC patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI159

Differential rates of frameshift alterations in four repeat sequences of hereditary nonpolyposis colorectal cancer tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI159

Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI159

Protein prenylation: a pivotal posttranslational process

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI159