Novel SMAD3 p.Arg386Thr genetic variant co‐segregating with thoracic aortic aneurysm and dissection-Reference-Cited by-同舟云学术

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Novel SMAD3 p.Arg386Thr genetic variant co‐segregating with thoracic aortic aneurysm and dissection

Published:2020-02-05 Issue:4 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Engström Karolina¹,Vánky Farkas²,Rehnberg Malin¹,Trinks Cecilia¹,Jonasson Jon¹,Green Anna³,Gunnarsson Cecilia¹^ORCID

Affiliation:

1. Department of Clinical Genetics and Department of Clinical and Experimental Medicine Linköping University Linköping Sweden

2. Department of Cardiothoracic and Vascular Surgery and Department of Medical and Health Sciences Linköping University Linköping Sweden

3. Department of Laboratory Medicine Faculty of Medicine and Health Örebro University Örebro Sweden

Funder

Forskningsrådet i Sydöstra Sverige

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1089

Reference22 articles.

1. A technique for complete replacement of the ascending aorta

2. Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

3. Familial thoracic aortic dilatations and dissections: A case control study

4. Clinical Exome Sequencing as a Novel Tool for Diagnosing Loeys-Dietz Syndrome Type 3

5. The Expanding Clinical Spectrum of Extracardiovascular and Cardiovascular Manifestations of Heritable Thoracic Aortic Aneurysm and Dissection

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1. Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing;American Journal of Medical Genetics Part A;2024-06-19

2. Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation;Human Molecular Genetics;2024-03-27

3. Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz Syndrome patients provides insights into genotype-phenotype relations;2023-12-12

4. Known pathogenic gene variants and new candidates detected in Sudden Unexpected Infant Death using Whole Genome Sequencing;2023-09-12

5. Applying multi-omics techniques to the discovery of biomarkers for acute aortic dissection;Frontiers in Cardiovascular Medicine;2022-12-15

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