LMNAMutation c.917T>G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging-Reference-Cited by-同舟云学术

LMNAMutation c.917T>G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging

Published:2015-06-01 Issue:7 Volume:36 Page:694-703
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Alastalo Tero-Pekka¹²,West Gun³⁴,Li Song-Ping³⁴,Keinänen Anni³⁴,Helenius Mikko¹,Tyni Tiina¹,Lapatto Risto¹,Turanlahti Maila¹,Heikkilä Päivi⁵,Kääriäinen Helena⁶,Laakso Markku⁷,Mauermann Monika⁸,Herrmann Harald⁸,Pihkala Jaana¹,Taimen Pekka³⁴

Affiliation:

1. Children's Hospital; University of Helsinki and Helsinki University Hospital; Helsinki Finland

2. Blueprint Genetics; Helsinki Finland

3. Department of Pathology; University of Turku and Turku University Hospital; Turku Finland

4. MediCity Research Laboratory; University of Turku; Turku Finland

5. Department of Pathology; Helsinki Central University Hospital; Helsinki Finland

6. National Institute of Health and Welfare; Finland; and Department of Clinical Genetics; Helsinki University Central Hospital; Helsinki Finland

7. Department of Medicine; University of Eastern Finland; Kuopio Finland

8. Functional Architecture of the Cell Group; German Cancer Research Center (DKFZ); Heidelberg Germany

Funder

Sydäntutkimussäätiö

Finnish Medical Foundation

Sigrid Juselius Foundation

University Hospital of Turku

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22793/fullpdf

Reference28 articles.

1. Heart fields: one, two or more?;Abu-Issa;Dev Biol,2004

2. The nuclear lamina is a meshwork of intermediate-type filaments;Aebi;Nature,1986

3. Accumulation of the inner nuclear envelope protein Sun1 is pathogenic in progeric and dystrophic laminopathies;Chen;Cell,2012

4. A nucleolar targeting signal in PML-I addresses PML to nucleolar caps in stressed or senescent cells;Condemine;J Cell Sci,2007

5. Nuclear lamins;Dechat;Cold Spring Harb Perspect Biol,2010

Cited by 14 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Intermediate filaments in the heart: The dynamic duo of desmin and lamins orchestrates mechanical force transmission;Current Opinion in Cell Biology;2023-12

2. Intracellular remodeling associated with endoplasmic reticulum stress modifies biomechanical compliance of bladder cells;Cell Communication and Signaling;2023-10-30

3. Desmosomal Arrhythmogenic Cardiomyopathy: The Story Telling of a Genetically Determined Heart Muscle Disease;Biomedicines;2023-07-18

4. Characterization of cardiac involvement in children with LMNA-related muscular dystrophy;Frontiers in Cell and Developmental Biology;2023-03-10

5. Altered Expression of TMEM43 Causes Abnormal Cardiac Structure and Function in Zebrafish;International Journal of Molecular Sciences;2022-08-23