Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications-Reference-Cited by-同舟云学术

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications

Published:2022-08 Issue:8 Volume:109 Page:1421-1435
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Rosenhahn Erik,O’Brien Thomas J.,Zaki Maha S.,Sorge Ina,Wieczorek Dagmar,Rostasy Kevin,Vitobello Antonio,Nambot Sophie,Alkuraya Fowzan S.,Hashem Mais O.,Alhashem Amal,Tabarki Brahim,Alamri Abdullah S.,Al Safar Ayat H.,Bubshait Dalal K.,Alahmady Nada F.,Gleeson Joseph G.,Abdel-Hamid Mohamed S.,Lesko Nicole,Ygberg Sofia,Correia Sandrina P.,Wredenberg Anna,Alavi Shahryar,Seyedhassani Seyed M.,Ebrahimi Nasab Mahya,Hussien Haytham,Omar Tarek E.I.,Harzallah Ines,Touraine Renaud,Tajsharghi Homa,Morsy Heba,Houlden Henry,Shahrooei Mohammad,Ghavideldarestani Maryam,Abdel-Salam Ghada M.H.,Torella Annalaura,Zanobio Mariateresa,Terrone Gaetano,Brunetti-Pierri Nicola,Omrani Abdolmajid,Hentschel Julia,Lemke Johannes R.,Sticht Heinrich,Abou Jamra Rami,Brown Andre E.X.,Maroofian Reza,Platzer Konrad^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference61 articles.

1. Liprins, a family of LAR transmembrane protein-tyrosine phosphatase-interacting proteins;Serra-Pagès;J. Biol. Chem.,1998

2. The mouse and human Liprin-α family of scaffolding proteins: genomic organization, expression profiling and regulation by alternative splicing;Zürner;Genomics,2009

3. Liprin-mediated large signaling complex organization revealed by the liprin-α/CASK and liprin-α/liprin-β complex structures;Wei;Mol. Cell,2011

4. Structural basis of liprin-α-promoted LAR-RPTP clustering for modulation of phosphatase activity;Xie;Nat. Commun.,2020

5. Liprin-α proteins: scaffold molecules for synapse maturation;Spangler;Biochem. Soc. Trans.,2007

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. Technologies for design-build-test-learn automation and computational modelling across the synthetic biology workflow: a review;Network Modeling Analysis in Health Informatics and Bioinformatics;2024-05-03

2. RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity;Brain;2024-03-25

3. Past, present, and future of CRISPR genome editing technologies;Cell;2024-02

4. BioNexusSentinel: a visual tool for bioregulatory network and cytohistological RNA-seq genetic expression profiling within the context of multicellular simulation research using ChatGPT-augmented software engineering;Bioinformatics Advances;2024-01-01

5. ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures;Genetics in Medicine;2023-12