LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes-Reference-Cited by-同舟云学术

LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes

Published:2017-06-15 Issue: Volume:8 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Florwick Alyssa,Dharmaraj Tejas,Jurgens Julie,Valle David,Wilson Katherine L.

Funder

Progeria Research Foundation

National Institute on Aging

National Institutes of Health

National Human Genome Research Institute

Publisher

Frontiers Media SA

Subject

Genetics(clinical),Genetics,Molecular Medicine

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3. Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan.;Astejada;Acta Myol.,2007

4. Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration.;Bakay;Brain,2006

5. Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24.;Barrowman;PLoS ONE,2012

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2. Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review;Cells;2023-02-24

3. Phenotypic Differences Among Familial Partial Lipodystrophy Due to LMNA or PPARG Variants;Journal of the Endocrine Society;2022-10-11

4. A recurrent familial partial lipodystrophy due to a monoallelic or biallelic LMNA founder variant highlights the multifaceted cardiac manifestations of metabolic laminopathies;European Journal of Endocrinology;2021-10-01

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