<i>PPP2R1A</i> neurodevelopmental disorder is associated with congenital heart defects-Reference-Cited by-同舟云学术

PPP2R1A neurodevelopmental disorder is associated with congenital heart defects

Published:2022-08-15 Issue:11 Volume:188 Page:3262-3277
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:

Baker Elizabeth K.¹²^ORCID,Solivio Beulah¹³,Pode‐Shakked Ben¹⁴⁵,Cross Laura Ann⁶^ORCID,Sullivan Bonnie⁶,Raas‐Rothschild Annick⁴⁵,Chorin Odelia⁴⁵,Barel Ortal⁵⁷,Bar‐Yosef Omer⁵⁸,Husami Ammar¹,Hopkin Robert J.¹²,Prada Carlos E.¹²⁹,Stottmann Rolf W.¹²³¹⁰,Weaver Kathryn Nicole¹²^ORCID

Affiliation:

1. Division of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USA

2. Department of Pediatrics University of Cincinnati College of Medicine Cincinnati Ohio USA

3. Steve & Cindy Rasmussen Institute for Genomic Medicine Nationwide Children's Hospital Columbus Ohio USA

4. The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital Sheba Medical Center Tel‐Hashomer Israel

5. Sackler Faculty of Medicine Tel‐Aviv University Tel‐Aviv Israel

6. Department of Pediatrics Children's Mercy Hospital Kansas City Missouri USA

7. Genomic Unit, Sheba Cancer Research Center Sheba Medical Center Tel‐Hashomer Israel

8. Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital Sheba Medical Center Tel‐Hashomer Israel

9. Division of Human Genetics Children's Hospital of Chicago Chicago Illinois USA

10. Department of Pediatrics The Ohio State University School of Medicine Columbus Ohio USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62946

Reference16 articles.

1. Crystal structure of a protein phosphatase 2A heterotrimeric holoenzyme

2. Large-scale discovery of novel genetic causes of developmental disorders

3. The Structure of the Protein Phosphatase 2A PR65/A Subunit Reveals the Conformation of Its 15 Tandemly Repeated HEAT Motifs

4. The Basic Biology of PP2A in Hematologic Cells and Malignancies

5. Recurrent PPP2R1A Mutations in Uterine Cancer Act through a Dominant-Negative Mechanism to Promote Malignant Cell Growth

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1. Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype;International Journal of Molecular Sciences;2023-09-05

2. Novel Variants of PPP2R1A in Catalytic Subunit Binding Domain and Genotype–Phenotype Analysis in Neurodevelopmentally Delayed Patients;Genes;2023-09-01

3. The role of serine/threonine phosphatases in human development: Evidence from congenital disorders;Frontiers in Cell and Developmental Biology;2022-10-13