Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal‐onset diabetes-Reference-Cited by-同舟云学术

Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal‐onset diabetes

Published:2021-02-17 Issue:5 Volume:99 Page:694-703
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Al‐Fadhli Fatima M.¹,Afqi Manal¹,Sairafi Mona Hamza²,Almuntashri Makki³,Alharby Essa⁴,Alharbi Ghadeer⁴,Abdud Samad Firoz⁴,Hashmi Jamil Amjad⁴,Zaytuni Dimah⁴,Bahashwan Ahmed A.⁵,Choi Jin Huk⁶,Peake Roy W. A.⁷,Beutler Bruce⁶,Almontashiri Naif A. M.⁴⁸^ORCID

Affiliation:

1. Unit of Genetic Diseases, Department of Pediatrics Maternity and Children's Hospital Almadinah Almunwarah Saudi Arabia

2. Department of Nephrology Maternity and Children's Hospital Almadinah Almunwarah Saudi Arabia

3. Department of Radiology King Abdulaziz Medical City, King Saud bin Abdulaziz University for Health Sciences Riyadh Saudi Arabia

4. Center for Genetics and Inherited Diseases Taibah University Almadinah Almunwarah Saudi Arabia

5. Laboratory and Blood Bank Department Maternity and Children's Hospital Almadinah Almunwarah Saudi Arabia

6. Center for the Genetics of Host Defense University of Texas Southwestern Medical Center Dallas Texas USA

7. Department of Laboratory Medicine Boston Children's Hospital Boston Massachusetts USA

8. Faculty of Applied Medical Sciences Taibah University Almadinah Almunwarah Saudi Arabia

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13930

Reference36 articles.

1. Functional Analysis of Human P5, a Protein Disulfide Isomerase Homologue

2. Protein disulfide isomerase in redox cell signaling and homeostasis

3. Essential cell-extrinsic requirement for PDIA6 in lymphoid and myeloid development

4. Protein Disulfide Isomerase A6 Controls the Decay of IRE1α Signaling via Disulfide-Dependent Association

5. Divergent Effects of PERK and IRE1 Signaling on Cell Viability

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