Mechanisms of pathogenesis of missense mutations on the KDM6A-H3 interaction in type 2 Kabuki Syndrome-Reference-Cited by-同舟云学术

Mechanisms of pathogenesis of missense mutations on the KDM6A-H3 interaction in type 2 Kabuki Syndrome

Published:2020 Issue: Volume:18 Page:2033-2042
ISSN:2001-0370
Container-title:Computational and Structural Biotechnology Journal
language:en
Short-container-title:Computational and Structural Biotechnology Journal

Author:

Petrizzelli Francesco,Biagini Tommaso,Barbieri Alessandro,Parca Luca,Panzironi Noemi,Castellana Stefano,Caputo Viviana,Vescovi Angelo Luigi,Carella Massimo,Mazza Tommaso

Funder

Nvidia

Publisher

Elsevier BV

Subject

Computer Science Applications,Genetics,Biochemistry,Structural Biology,Biophysics,Biotechnology

Reference27 articles.

1. Histone lysine methylases and demethylases in the landscape of human developmental disorders;Faundes;Am J Hum Genet,2018

2. Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients;Micale;Hum Mutat,2014

3. Mutation update for kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked kabuki syndrome subtype 2;Bögershausen;Hum Mutat,2016

4. Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders;Fokstuen;Hum Genomics,2016

5. Histone Lysine methylation and neurodevelopmental disorders;Kim;Int J Mol Sci,201718

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. Exploiting in silico structural analysis to introduce emerging genotype–phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study;Frontiers in Genetics;2024-01-04

2. The role of lysine-specific demethylase 6A (KDM6A) in tumorigenesis and its therapeutic potentials in cancer therapy;Bioorganic Chemistry;2023-04

3. Molecular dynamics study reveals key disruptors of MEIG1–PACRG interaction;Proteins: Structure, Function, and Bioinformatics;2022-12-13

4. Connecting the dots: A practical evaluation of web-tools for describing protein dynamics as networks;Frontiers in Bioinformatics;2022-10-19

5. KDM6A missense variants hamper H3 histone demethylation in lung squamous cell carcinoma;Computational and Structural Biotechnology Journal;2022