Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic <scp>SNV</scp> in a lung‐specific enhancer in <i>trans</i> to the frameshifting <scp> <i>TBX4</i> </scp> variant-Reference-Cited by-同舟云学术

Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung‐specific enhancer in trans to the frameshifting TBX4 variant

Published:2022-01-25 Issue:5 Volume:188 Page:1420-1425
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Yıldız Bölükbaşı Esra¹^ORCID,Karolak Justyna A.²^ORCID,Szafranski Przemyslaw¹^ORCID,Gambin Tomasz¹³^ORCID,Murik Omer⁴^ORCID,Zeevi David A.⁴^ORCID,Altarescu Gheona⁵^ORCID,Stankiewicz Paweł¹^ORCID

Affiliation:

1. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA

2. Chair and Department of Genetics and Pharmaceutical Microbiology Poznan University of Medical Sciences Poznan Poland

3. Institute of Computer Science Warsaw University of Technology Warsaw Poland

4. Translational Genomics Lab, Medical Genetics Institute Shaare Zedek Medical Center Jerusalem Israel

5. Preimplantation Genetic Unit, Medical Genetics Institute Shaare Zedek Medical Center Jerusalem Israel

Funder

National Heart, Lung, and Blood Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62656

Reference26 articles.

1. Evolution of Mouse T-box Genes by Tandem Duplication and Cluster Dispersion

2. Familial Isolated Clubfoot Is Associated with Recurrent Chromosome 17q23.1q23.2 Microduplications Containing TBX4

3. Multiple Roles and Interactions of Tbx4 and Tbx5 in Development of the Respiratory System

4. Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities

5. Mutations in the Human TBX4 Gene Cause Small Patella Syndrome

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3. Diminished TMEM100 Expression in a Newborn With Acinar Dysplasia and a Novel TBX4 Variant: A Case Report;Pediatric and Developmental Pathology;2023-12-03

4. A novel non‐recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia;Clinical Genetics;2023-10-11

5. Molecular Function and Contribution of TBX4 in Development and Disease;American Journal of Respiratory and Critical Care Medicine;2023-04-01