NovelKLHL26variant associated with a familial case of Ebstein’s anomaly and left ventricular noncompaction-Reference-Cited by-同舟云学术

NovelKLHL26variant associated with a familial case of Ebstein’s anomaly and left ventricular noncompaction

Published:2020-01-27 Issue:4 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Samudrala Sai Suma K.¹^ORCID,North Lauren M.²,Stamm Karl D.³,Earing Michael G.⁴⁵,Frommelt Michele A.⁴⁵,Willes Richard⁴,Tripathi Swarnendu⁶,Dsouza Nikita R.⁶,Zimmermann Michael T.⁶⁷,Mahnke Donna K.³,Liang Huan Ling³,Lund Michael⁸,Lin Chien‐Wei⁹,Geddes Gabrielle C.⁴,Mitchell Michael E.³⁵,Tomita‐Mitchell Aoy³⁵¹⁰^ORCID

Affiliation:

1. Department of Cell Biology, Neurobiology and Anatomy Medical College of Wisconsin Milwaukee WI USA

2. Department of Otolaryngology and Communication Sciences Medical College of Wisconsin Milwaukee WI USA

3. Department of Surgery Division of Cardiothoracic Surgery Medical College of Wisconsin Milwaukee WI USA

4. Department of Pediatrics Children’s Hospital of Wisconsin Milwaukee WI USA

5. Herma Heart InstituteChildren’s Hospital of Wisconsin Milwaukee WI USA

6. Bioinformatics Research and Developmental Lab Genomic Sciences and Precision Medicine Center Medical College of Wisconsin Milwaukee WI USA

7. Clinical and Translational Science Institute Medical College of Wisconsin Milwaukee WI USA

8. Department of Obstetrics and Gynecology Medical College of Wisconsin Milwaukee WI USA

9. Division of Biostatistics Medical College of Wisconsin Milwaukee WI USA

10. Department of Biomedical Engineering Medical College of Wisconsin Milwaukee WI USA

Funder

Children’s Hospital of Wisconsin Research Institute

National Institute of General Medical Sciences

National Heart, Lung, and Blood Institute

Medical College of Wisconsin

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1152

Reference55 articles.

1. Klhl31 is associated with skeletal myogenesis and its expression is regulated by myogenic signals and Myf-5

2. Ebstein’s Anomaly

3. Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways

4. Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation

5. A novel X-linked gene, G4.5. is responsible for Barth syndrome

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