Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation (Q35030979)

5 August 2017

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation (English)

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Annachiara De Sandre-Giovannoli

5 August 2017

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mandibuloacral dysplasia

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6

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5 August 2017

4

Anne T Bertrand

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5 August 2017

Claire Navarro

2

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Pascale Richard

Pascale Richard

11

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Rabah Ben Yaou

Rabah Ben Yaou

1

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Gillian Butler-Browne

Gillian Butler-Browne

9

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Nicolas Levy

Nicolas Lévy

13

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Gisèle Bonne

Gisèle Bonne

14

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author name string

Susana Quijano-Roy

3

1 reference

5 August 2017

Catherine Massart

5

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5 August 2017

Juan Cadiñanos

7

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5 August 2017

Kamel Mamchaoui

8

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5 August 2017

Brigitte Estournet

10

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5 August 2017

Annie Barois

12

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5 August 2017

26 January 2011

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European Journal of Human Genetics

5 August 2017

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5 August 2017

19

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5 August 2017

6

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5 August 2017

647-654

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https://scigraph.springernature.com/pub.10.1038/ejhg.2010.256

5 August 2017

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cites work

Homozygosity for the common mutation c.1085dupT in the ZMPSTE24 gene in a Mennonite baby with restrictive dermopathy and placenta abruption.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110044

Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110044

Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110044

Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110044

Restrictive dermopathy: a rare laminopathy.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110044

Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110044

Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110044

"Laminopathies": a wide spectrum of human diseases

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110044

Nuclear lamins: laminopathies and their role in premature ageing.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110044

A protein farnesyltransferase inhibitor ameliorates disease in a mouse model of progeria.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110044

Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110044

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110044

Prelamin A endoproteolytic processing in vitro by recombinant Zmpste24

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110044

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110044

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110044

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110044

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110044

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110044

Biochemical studies of Zmpste24-deficient mice

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110044

The processing pathway of prelamin A

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110044

Restrictive dermopathy: a newly recognized autosomal recessive skin dysplasia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110044

Nucleoplasmic localization of prelamin A: implications for prenylation-dependent lamin A assembly into the nuclear lamina

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110044

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

8 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.256

Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.256

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.256

Replicative potential and telomere length in human skeletal muscle: implications for satellite cell-mediated gene therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.256

Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.256

Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.256

A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.256

Hutchinson-Gilford progeria syndrome: review of the phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.256

p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.256

Prenatal diagnosis of restrictive dermopathy.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110044

Restrictive dermopathy. Molecular diagnosis of restrictive dermopathy in a stillborn fetus from a consanguineous Iranian family.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110044

Novel frameshifting mutations of theZMPSTE24gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature

25 October 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.256

Compound Heterozygosity for Mutations inLMNAin a Patient with a Myopathic and Lipodystrophic Mandibuloacral Dysplasia Type A Phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.256

Subcellular localization and partial purification of prelamin A endoprotease: an enzyme which catalyzes the conversion of farnesylated prelamin A to mature lamin A

21 January 2018

1 reference

12 December 2020

A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS

1 reference

12 December 2020

Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?

1 reference

12 December 2020

Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation

1 reference

12 December 2020

A newly identified splice site mutation in ZMPSTE24 causes restrictive dermopathy in the Middle East

1 reference

12 December 2020

A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPSTE24 gene

1 reference

12 December 2020

Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2010.256

1 reference

5 August 2017

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5 August 2017

1 reference