De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism-Reference-Cited by-同舟云学术

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism

Published:2019-02 Issue:2 Volume:104 Page:246-259
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Zawerton Ash,Yao Baojin,Yeager J. Paige,Pippucci Tommaso,Haseeb Abdul,Smith Joshua D.,Wischmann Lisa,Kühl Susanne J.,Dean John C.S.,Pilz Daniela T.,Holder Susan E.,McNeill Alisdair,Graziano Claudio,Lefebvre Véronique

Funder

National Institutes of Health NHGRI and NHLBI

Wellcome

Department of Health

Wellcome Sanger Institute

National Institute for Health Research

Cleveland Clinic Lerner Research Institute

National Institutes of Health NIAMS

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference57 articles.

1. Neurogenesis in the embryonic and adult brain: same regulators, different roles;Urbán;Front. Cell. Neurosci.,2014

2. Orchestration of neuronal differentiation and progenitor pool expansion in the developing cortex by SoxC genes;Chen;J. Neurosci.,2015

3. Vertebrate skeletogenesis;Lefebvre;Curr. Top. Dev. Biol.,2010

4. A pathway to bone: signaling molecules and transcription factors involved in chondrocyte development and maturation;Kozhemyakina;Development,2015

5. Nosology and classification of genetic skeletal disorders: 2010 revision;Warman;Am. J. Med. Genet. A.,2011

Cited by 40 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. Implications of a De Novo Variant in the SOX12 Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders;Current Issues in Molecular Biology;2024-06-26

2. Identification of a novel de novo mutation in SOX4 for syndromic tooth agenesis;Clinical Oral Investigations;2024-04-30

3. Utilization of temperature-mediated activation of thyroid hormone-induced molecular memory to evaluate early signaling events in the olfactory epithelium of Rana [Lithobates] catesbeiana tadpoles;Comparative Biochemistry and Physiology Part D: Genomics and Proteomics;2024-03

4. Investigating How Inflammation Involving NF-κB Signaling Disrupts the Genetic Architecture of Neurons/Neural Stem Cells and Fuels Neurodegeneration;2024-02-26

5. Landscape of Constitutional SOX4 Variation in Human Disorders;Genes;2024-01-25