Atypical progeroid syndrome due to heterozygous missense LMNA mutations (Q37482681)

20 August 2017

Atypical progeroid syndrome due to heterozygous missense LMNA mutations (English)

1 reference

20 August 2017

1 reference

1 reference

Yanick Crow

0 references

Giuseppe Novelli

0 references

Abhimanyu Garg

1 reference

20 August 2017

Lalitha Subramanyam

1 reference

20 August 2017

Anil K Agarwal

1 reference

20 August 2017

Vinaya Simha

1 reference

20 August 2017

Benjamin Levine

1 reference

20 August 2017

Maria Rosaria D'Apice

1 reference

20 August 2017

language of work or name

English

0 references

publication date

29 October 2009

1 reference

The Journal of Clinical Endocrinology and Metabolism

20 August 2017

1 reference

20 August 2017

1 reference

20 August 2017

1 reference

20 August 2017

4971-4983

1 reference

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

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

Progerin elicits disease phenotypes of progeria in mice whether or not it is farnesylated.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

Phenotype and course of Hutchinson-Gilford progeria syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

Mislocalization of prelamin A Tyr646Phe mutant to the nuclear pore complex in human embryonic kidney 293 cells

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

Blocking protein farnesyltransferase improves nuclear shape in fibroblasts from humans with progeroid syndromes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

LMNA mutations in atypical Werner's syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

Lamin a truncation in Hutchinson-Gilford progeria.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

Clinical features and metabolic derangements in acquired generalized lipodystrophy: case reports and review of the literature

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

Dual-energy x-ray absorptiometry for total-body and regional bone-mineral and soft-tissue composition

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

Altered pre-lamin A processing is a common mechanism leading to lipodystrophy.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

Severe insulin resistance and diabetes mellitus in mandibuloacral dysplasia

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

Generalized equations for predicting body density of men

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

Hutchinson-Gilford progeria syndrome: review of the phenotype.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

Reduced adiponectin and HDL cholesterol without elevated C-reactive protein: clues to the biology of premature atherosclerosis in Hutchinson-Gilford Progeria Syndrome

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

Generalized equations for predicting body density of women.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

Novel LMNA Mutation in Atypical Werner Syndrome Presenting With Ischemic Disease

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

An association of Hutchinson–Gilford progeria and malignancy

3 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795646

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

3 December 2018

1 reference

12 December 2020

Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation

1 reference

12 December 2020

Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety)

1 reference

12 December 2020

Predicting body composition from anthropometry in pre-adolescent children

1 reference

12 December 2020

Histological and ultrastructural features of atherosclerosis in progeria

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1210/JC.2009-0472

1 reference

20 August 2017

1 reference

20 August 2017

PubMed publication ID

19875478

1 reference