Clinical features of CNOT3-associated neurodevelopmental disorder in three Chinese patients-Reference-Cited by-同舟云学术

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Clinical features of CNOT3-associated neurodevelopmental disorder in three Chinese patients

Published:2023-02-21 Issue:2 Volume:24 Page:129-136
ISSN:1364-6753
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Zhao Peiwei,Meng Qingjie,Wan Chunhui,Lei Tao,Zhang Lei,Zhang Xiankai,Tan Li,Zhu Hongmin,He Xuelian^ORCID

Funder

Wuhan Municipal Health Commission

Construction Project of Clinical Medical Research Center for Neurodevelopment Disorders in Children in Hubei Province

Wuhan Children's Imaging Clinical Medical Research Center

Center for Depression Research and Clinical Care, University of Texas Southwestern Medical Center

Key Laboratory of Highway Construction and Maintenance Technology in the Loess Region of Shanxi Transportation Research Institute

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s10048-023-00713-z.pdf

Reference23 articles.

1. de Ligt J, Willemsen MH, van Bon BW et al (2012) Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 367(20):1921–1929. https://doi.org/10.1056/NEJMoa1206524

2. Rauch A, Wieczorek D, Graf E et al (2012) Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 380(9854):1674–1682. https://doi.org/10.1016/S0140-6736(12)61480-9

3. Boland A, Chen Y, Raisch T et al (2013) Structure and assembly of the NOT module of the human CCR4-NOT complex. Nat Struct Mol Biol 20(11):1289–1297. https://doi.org/10.1038/nsmb.2681

4. Zheng X, Yang P, Lackford B et al (2016) CNOT3-dependent mRNA deadenylation safeguards the pluripotent state. Stem Cell Reports 7(5):897–910. https://doi.org/10.1016/j.stemcr.2016.09.007

5. Cejas P, Cavazza A, Yandava CN et al (2017) Transcriptional regulator CNOT3 defines an aggressive colorectal cancer subtype. Cancer Res 77(3):766–779. https://doi.org/10.1158/0008-5472.CAN-16-1346

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1. Dilated aorta in CNOT3-related neurodevelopmental disorder: ‘expanding’ the phenotype;Clinical Dysmorphology;2024-09-04

2. Novel mutation identified in CONT3 causes IDDSADF: a case report and literature review;Journal of International Medical Research;2024-08

3. mRNA stability fine tunes gene expression in the developing cortex to control neurogenesis;2024-07-22

4. Characterization and Engineered U1 snRNA Rescue of Splicing Variants in a Turkish Neurodevelopmental Disease Cohort;Human Mutation;2024-05-28

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