Pathogenic effect of a TGFBR1 mutation in a family with Loeys–Dietz syndrome-Reference-Cited by-同舟云学术

Pathogenic effect of a TGFBR1 mutation in a family with Loeys–Dietz syndrome

Published:2019-09 Issue:10 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Cozijnsen Luc¹^ORCID,Plomp Astrid S.²,Post Jan G.³,Pals Gerard⁴,Bogunovic Natalija⁵⁶,Yeung Kak K.⁵⁶,Niessen Hans W. M.⁷,Goumans Marie‐José T. H.⁸,Barge‐Schaapveld Daniela Q. C. M.⁹,Micha Dimitra⁴^ORCID

Affiliation:

1. Department of Cardiology Gelre Hospital Apeldoorn The Netherlands

2. Department of Clinical Genetics Amsterdam University Medical Centre, AMC Amsterdam The Netherlands

3. Department of Genetics University Medical Centre Utrecht The Netherlands

4. Department of Clinical Genetics Amsterdam University Medical Centre, VUMC, Amsterdam Cardiovascular Sciences Amsterdam The Netherlands

5. Department of Physiology Amsterdam University Medical Centre, VUMC, Amsterdam Cardiovascular Sciences Amsterdam The Netherlands

6. Department of Surgery Amsterdam University Medical Centre, VUMC, Amsterdam Cardiovascular Sciences Amsterdam The Netherlands

7. Department of Pathology and Cardiac Surgery Amsterdam University Medical Centre, VUMC, Amsterdam Cardiovascular Sciences Amsterdam The Netherlands

8. Department of Cell and Chemical Biology Leiden University Medical Centre Leiden The Netherlands

9. Department of Clinical Genetics Leiden University Medical Centre Leiden The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.943

Reference30 articles.

1. The paradoxical TGF-β vasculopathies

2. Familial Thoracic Aortic Aneurysms and Dissections—Incidence, Modes of Inheritance, and Phenotypic Patterns

3. Progressive Tumor Formation in Mice with Conditional Deletion of TGF-β Signaling in Head and Neck Epithelia Is Associated with Activation of the PI3K/Akt Pathway

4. Familial Patterns of Thoracic Aortic Aneurysms

5. Cardiovascular manifestations in Marfan syndrome and related diseases; multiple genes causing similar phenotypes

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1. Coexistence of Multiple self-healing squamous epithelioma and features of Loeys-Dietz syndrome caused by a pathogenic missense variant in the kinase domain of TGFBR1 gene;Clinical and Experimental Dermatology;2023-12-19

2. Ten-year follow-up study of a young woman with loeys-dietz syndrome: a case report;Journal of Cardiothoracic Surgery;2023-07-04

3. Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome;European Journal of Human Genetics;2023-01-04