Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24 (Q84977740)

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13 February 2020

title

Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24 (English)

1 reference

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13 February 2020

main subject

mandibuloacral dysplasia

1 reference

1 reference

Zahid Ahmad

1

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13 February 2020

Elaine Zackai

series ordinal

2

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13 February 2020

Livija Medne

series ordinal

3

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13 February 2020

Abhimanyu Garg

series ordinal

4

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13 February 2020

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20814950

6 July 2024

publication date

1 November 2010

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full work available at URL

13 February 2020

https://europepmc.org/articles/pmc2965306?pdf=render

file format

Portable Document Format

online access status

open access

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https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20814950/?tool=EBI

6 July 2024

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https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20814950/pdf/?tool=EBI

6 July 2024

file format

Portable Document Format

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20814950

https://europepmc.org/articles/PMC2965306

6 July 2024

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https://europepmc.org/articles/PMC2965306?pdf=render

6 July 2024

file format

Portable Document Format

online access status

open access

content deliverer

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https://doi.org/10.1002/ajmg.a.33664

6 July 2024

online access status

open access

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https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.33664

6 July 2024

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https://api.crossref.org/works/10.1002/AJMG.A.33664

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.33664

6 July 2024

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https://api.crossref.org/works/10.1002/AJMG.A.33664

American Journal of Medical Genetics

6 July 2024

published in

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13 February 2020

volume

152A

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13 February 2020

issue

11

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13 February 2020

page(s)

2703-2710

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

13 February 2020

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

Novel LMNA Mutation in Atypical Werner Syndrome Presenting With Ischemic Disease

1 reference

12 December 2020

Novel LMNA gene mutation in a patient with Atypical Werner's Syndrome

1 reference

12 December 2020

Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation

1 reference

12 December 2020

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

1 reference

12 December 2020

Mandibuloacral dysplasia type A in childhood.

1 reference

12 December 2020

Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation

1 reference

12 December 2020

Atypical progeroid syndrome due to heterozygous missense LMNA mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).

1 reference

12 December 2020

Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy

1 reference

12 December 2020

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

1 reference

12 December 2020

LMNA mutations in atypical Werner's syndrome

1 reference

12 December 2020

Diagnosis of osteoporosis in men, premenopausal women, and children

1 reference

12 December 2020

Acquired and inherited lipodystrophies

1 reference

12 December 2020

Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes

1 reference

12 December 2020

Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Body composition of a young, multiethnic, male population

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Anthropometric reference data for children and adults: U.S. population, 1999-2002.

1 reference

12 December 2020

A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia

1 reference

12 December 2020

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

1 reference

12 December 2020

Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's syndrome due to heterozygous Arg133Leu lamin A/C mutation

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

Hutchinson-Gilford progeria syndrome: review of the phenotype.

1 reference

12 December 2020

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

1 reference

12 December 2020

Disease progression in Hutchinson-Gilford progeria syndrome: impact on growth and development.

1 reference

12 December 2020

Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes

1 reference

12 December 2020

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

1 reference

12 December 2020

Phenotype and course of Hutchinson-Gilford progeria syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Official Positions of the International Society for Clinical Densitometry and executive summary of the 2007 ISCD Position Development Conference

1 reference

12 December 2020

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

1 reference

12 December 2020

Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.33664

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20814950%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20814950%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

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