Functional characterization of a novel <i>TP53RK</i> mutation identified in a family with Galloway

Functional characterization of a novel TP53RK mutation identified in a family with Galloway–Mowat syndrome

Published:2022-09-27 Issue:12 Volume:43 Page:1866-1871
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Treimer Ernestine¹²^ORCID,Kalayci Tugba³,Schumann Sven²,Suer Ilknur³,Greco Sara¹,Schanze Denny⁴,Schmeisser Michael J.²⁵,Kühl Susanne J.¹,Zenker Martin⁴^ORCID

Affiliation:

1. Institute of Biochemistry and Molecular Biology Ulm University Ulm Germany

2. Institute of Anatomy University Medical Center of the Johannes Gutenberg‐University Mainz Mainz Germany

3. Department of Medical Genetics, Istanbul Faculty of Medicine Istanbul University Istanbul Turkey

4. Institute of Human Genetics, University Hospital Otto‐von‐Guericke University Magdeburg Magdeburg Germany

5. Focus Program Translational Neurosciences University Medical Center of the Johannes Gutenberg‐University Mainz Mainz Germany

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24472

Reference18 articles.

1. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

2. Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy

3. ClinVar.https://www.ncbi.nlm.gov/clinvar/

4. A Genome-Wide Screen Identifies the Evolutionarily Conserved KEOPS Complex as a Telomere Regulator

5. Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs.

Cited by 6 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. Case Report: Novel compound heterozygous TPRKB variants cause Galloway-Mowat syndrome;Frontiers in Pediatrics;2024-04-03

2. Prdm15 acts upstream of Wnt4 signaling in anterior neural development of Xenopus laevis;Frontiers in Cell and Developmental Biology;2024-02-20

3. State of the art in childhood nephrotic syndrome: concrete discoveries and unmet needs;Frontiers in Immunology;2023-07-12

4. Xenopus laevis (Daudin, 1802) as a Model Organism for Bioscience: A Historic Review and Perspective;Biology;2023-06-20

5. Novel TP53RK variants cause varied clinical features of Galloway–Mowat syndrome without nephrotic syndrome in three unrelated Chinese patients;Frontiers in Molecular Neuroscience;2023-02-16