PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy-Reference-Cited by-同舟云学术

PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy

Published:2021-06 Issue:2 Volume:100 Page:227-233
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Panneerselvam Sugi¹,Wang Julia²,Zhu Wenmiao³,Dai Hongzheng¹³,Pappas John G.⁴,Rabin Rachel⁴,Low Karen J.⁵,Rosenfeld Jill A.¹^ORCID,Emrick Lisa⁶,Xiao Rui¹³,Xia Fan¹³,Yang Yaping¹³,Eng Christine M.¹³,Anderson Anne¹⁶,Chau Vann⁷,Soler‐Alfonso Claudia¹⁶,Streff Haley¹⁶,Lalani Seema R.¹⁶,Mercimek‐Andrews Saadet⁸⁹,Bi Weimin¹³^ORCID, ,

Affiliation:

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

2. Medical Scientist Training Program and Developmental Biology Baylor College of Medicine Houston Texas USA

3. Baylor Genetics Laboratories Houston Texas USA

4. Department of Pediatrics, Clinical Genetic Services NYU School of Medicine New York New York USA

5. University Hospital Bristol NHS Foundation Trust Bristol UK

6. Texas Children's Hospital Houston Texas USA

7. Division of Neurology, Department of Pediatrics University of Toronto, The Hospital for Sick Children Toronto Ontario Canada

8. Division of Clinical and Metabolic Genetics, Department of Pediatrics University of Toronto, The Hospital for Sick Children Toronto Ontario Canada

9. Department of Medical Genetics University of Alberta, Stollery Children's Hospital Edmonton Alberta Canada

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13979

Reference11 articles.

1. Protein phosphatase PPP3CA (calcineurin A) down-regulates hypoxia-inducible factor transcriptional activity

2. Fine Mapping of Calcineurin (PPP3CA) Gene Reveals Novel Alternative Splicing Patterns, Association of 5′UTR Trinucleotide Repeat With Addiction Vulnerability, and Differential Isoform Expression in Alzheimer's Disease

3. Structural Basis for Activation of Calcineurin by Calmodulin

4. Cooperative autoinhibition and multi-level activation mechanisms of calcineurin

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Identification and validation of genes associated with prognosis of cisplatin-resistant ovarian cancer;BMC Cancer;2024-08-05

2. PPP3CA gene-related developmental and epileptic encephalopathy: expanding the electro-clinical phenotype;Seizure: European Journal of Epilepsy;2024-08

3. Astroglial calcium signaling and homeostasis in tuberous sclerosis complex;Acta Neuropathologica;2024-02-28

4. Vascular endothelial growth factor B regulates insulin secretion in β cells of type 2 diabetes mellitus mice via PLCγ and the IP3R‑evoked Ca2⁺/CaMK2 signaling pathway;Molecular Medicine Reports;2023-09-05

5. Forebrain-specific conditional calcineurin deficiency induces dentate gyrus immaturity and hyper-dopaminergic signaling in mice;Molecular Brain;2022-11-22