Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2-Reference-Cited by-同舟云学术

Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2

Published:2020-11 Issue: Volume:119 Page:104918
ISSN:0003-9969
Container-title:Archives of Oral Biology
language:en
Short-container-title:Archives of Oral Biology

Author:

Kantaputra Piranit Nik,Dejkhamron Prapai,Tongsima Sissades,Ngamphiw Chumpol,Intachai Worrachet,Ngiwsara Lukana,Sawangareetrakul Phannee,Svasti Jisnuson,Olsen Bjorn,Cairns James R. Ketudat,Bumroongkit Kanokkan

Funder

Thailand Research Fund

Health Systems Research Institute (HSRI) of Thailand

Publisher

Elsevier BV

Subject

Cell Biology,General Dentistry,General Medicine,Otorhinolaryngology

Reference20 articles.

1. Eukaryotic translational termination efficiency is influenced by the 3’ nucleotides within the ribosomal mRNA channel;Cridge;Nucleic Acids Research,2018

2. The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies;Gerkes;European Journal of Medical Genetics,2010

3. The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity;Gordillo;Human Molecular Genetics,2008

4. A new familial syndrome of oral, cranial, and digital anomalies;Juberg;J Pediat,1969

5. Juberg-Hayward syndrome: A new case report and clinical delineation of the syndrome;Kantaputra;Clinical Dysmorphology,1999

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1. Limb reduction in an Esco2 cohesinopathy mouse model is mediated by p53-dependent apoptosis and vascular disruption;Nature Communications;2024-08-21

2. Case report: The evolving phenotype of ESCO2 spectrum disorder in a 15-year-old Malaysian child;Frontiers in Genetics;2024-01-15

3. Cohesin in DNA damage response and double-strand break repair;Critical Reviews in Biochemistry and Molecular Biology;2022-02-03