(Q34215118)

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A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features.

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21031082%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21031082%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

familial partial lipodystrophy

1 reference

based on heuristic

inferred from title

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21031082%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

author name string

B Saha

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21031082%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

F M Hisama

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21031082%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

D F Leistritz

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21031082%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

K Friedrich

5

1 reference

Europe PubMed Central

PMC publication ID

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15 January 2020

G M Martin

6

1 reference

Europe PubMed Central

PMC publication ID

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15 January 2020

C Kubisch

7

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21031082%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

J Oshima

8

1 reference

Europe PubMed Central

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15 January 2020

publication date

14 September 2010

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Europe PubMed Central

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15 January 2020

Molecular syndromology

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21031082%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21031082%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

3

1 reference

Europe PubMed Central

PMC publication ID

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15 January 2020

127-132

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21031082%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Leukocyte telomere length is associated with disability in older u.s. Population.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957848

5 July 2018

Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957848

5 July 2018

Atypical progeroid syndrome due to heterozygous missense LMNA mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957848

5 July 2018

Accelerated telomere shortening and replicative senescence in human fibroblasts overexpressing mutant and wild-type lamin A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957848

5 July 2018

"Laminopathies": a wide spectrum of human diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957848

5 July 2018

Phenomics and lamins: from disease to therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957848

5 July 2018

Collagen expression in fibroblasts with a novel LMNA mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957848

5 July 2018

Nuclear lamins: laminopathies and their role in premature ageing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957848

5 July 2018

The spectrum of WRN mutations in Werner syndrome patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957848

5 July 2018

LMNA mutations in progeroid syndromes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957848

5 July 2018

Acquired and inherited lipodystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957848

5 July 2018

LMNA mutations in atypical Werner's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957848

5 July 2018

Expression of lamins depends on epidermal differentiation and transformation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957848

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957848

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957848

5 July 2018

Familial lipoatrophic diabetes with dominant transmission. A new syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957848

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957848

5 July 2018

Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957848

28 October 2018

Risk factors for diabetes in familial partial lipodystrophy, Dunnigan variety.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957848

28 October 2018

Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957848

28 October 2018

Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957848

28 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957848

28 October 2018

Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21031082

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

LMNA mutation position predicts organ system involvement in laminopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/21031082

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660)

1 reference

https://pubmed.ncbi.nlm.nih.gov/21031082

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1159/000320166

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21031082%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21031082%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21031082%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

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