Literature DB >> 25184530

The diverse genetic landscape of neurodevelopmental disorders.

Wen F Hu1, Maria H Chahrour, Christopher A Walsh.   

Abstract

Advances in genetic tools and sequencing technology in the past few years have vastly expanded our understanding of the genetics of neurodevelopmental disorders. Recent high-throughput sequencing analyses of structural brain malformations, cognitive and neuropsychiatric disorders, and localized cortical dysplasias have uncovered a diverse genetic landscape beyond classic Mendelian patterns of inheritance. The underlying genetic causes of neurodevelopmental disorders implicate numerous cell biological pathways critical for normal brain development.

Entities:  

Keywords:  autism; brain malformations; neurodevelopment; somatic mutations

Mesh：

Year:  2014        PMID： 25184530     DOI： 10.1146/annurev-genom-090413-025600

Source DB:  PubMed          Journal:  Annu Rev Genomics Hum Genet        ISSN： 1527-8204            Impact factor:   8.929


  74 in total

1.  Human Cytomegalovirus IE2 Protein Disturbs Brain Development by the Dysregulation of Neural Stem Cell Maintenance and the Polarization of Migrating Neurons.

Authors:  Dasol Han; Sung-Hyun Byun; Juwan Kim; Mookwang Kwon; Samuel J Pleasure; Jin-Hyun Ahn; Keejung Yoon
Journal:  J Virol       Date:  2017-08-10       Impact factor: 5.103

2.  Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Authors:  Claire Guissart; Xenia Latypova; Paul Rollier; Tahir N Khan; Hannah Stamberger; Kirsty McWalter; Megan T Cho; Susanne Kjaergaard; Sarah Weckhuysen; Gaetan Lesca; Thomas Besnard; Katrin Õunap; Lynn Schema; Andreas G Chiocchetti; Marie McDonald; Julitta de Bellescize; Marie Vincent; Hilde Van Esch; Shannon Sattler; Irman Forghani; Isabelle Thiffault; Christine M Freitag; Deborah Sara Barbouth; Maxime Cadieux-Dion; Rebecca Willaert; Maria J Guillen Sacoto; Nicole P Safina; Christèle Dubourg; Lauren Grote; Wilfrid Carré; Carol Saunders; Sander Pajusalu; Emily Farrow; Anne Boland; Danielle Hays Karlowicz; Jean-François Deleuze; Monica H Wojcik; Rena Pressman; Bertrand Isidor; Annick Vogels; Wim Van Paesschen; Lihadh Al-Gazali; Aisha Mohamed Al Shamsi; Mireille Claustres; Aurora Pujol; Stephan J Sanders; François Rivier; Nicolas Leboucq; Benjamin Cogné; Souphatta Sasorith; Damien Sanlaville; Kyle Retterer; Sylvie Odent; Nicholas Katsanis; Stéphane Bézieau; Michel Koenig; Erica E Davis; Laurent Pasquier; Sébastien Küry
Journal:  Am J Hum Genet       Date:  2018-04-12       Impact factor: 11.025

3.  Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.

Authors:  Jae Seok Lim; Ramu Gopalappa; Se Hoon Kim; Suresh Ramakrishna; Minji Lee; Woo-Il Kim; Junho Kim; Sang Min Park; Junehawk Lee; Jung-Hwa Oh; Heung Dong Kim; Chang-Hwan Park; Joon Soo Lee; Sangwoo Kim; Dong Seok Kim; Jung Min Han; Hoon-Chul Kang; Hyongbum Henry Kim; Jeong Ho Lee
Journal:  Am J Hum Genet       Date:  2017-02-16       Impact factor: 11.025

Review 4.  Development of the cerebral cortex and the effect of the intrauterine environment.

Authors:  Sebastian Quezada; Margie Castillo-Melendez; David W Walker; Mary Tolcos
Journal:  J Physiol       Date:  2018-11-02       Impact factor: 5.182

5.  Mutations in ADNP affect expression and subcellular localization of the protein.

Authors:  Elisa Cappuyns; Jolien Huyghebaert; Geert Vandeweyer; R Frank Kooy
Journal:  Cell Cycle       Date:  2018-07-17       Impact factor: 4.534

Review 6.  Studying Human Neurodevelopment and Diseases Using 3D Brain Organoids.

Authors:  Ai Tian; Julien Muffat; Yun Li
Journal:  J Neurosci       Date:  2020-02-05       Impact factor: 6.167

Review 7.  C. elegans as a model in developmental neurotoxicology.

Authors:  Joanna A Ruszkiewicz; Adi Pinkas; Mahfuzur R Miah; Rebecca L Weitz; Michael J A Lawes; Ayodele J Akinyemi; Omamuyovwi M Ijomone; Michael Aschner
Journal:  Toxicol Appl Pharmacol       Date:  2018-03-14       Impact factor: 4.219

8.  DMRT5, DMRT3, and EMX2 Cooperatively Repress Gsx2 at the Pallium-Subpallium Boundary to Maintain Cortical Identity in Dorsal Telencephalic Progenitors.

Authors:  Elodie Desmaris; Marc Keruzore; Amandine Saulnier; Leslie Ratié; Stavroula Assimacopoulos; Sarah De Clercq; Xinsheng Nan; Kaushik Roychoudhury; Shenyue Qin; Sadia Kricha; Clément Chevalier; Thomas Lingner; Kristine A Henningfeld; David Zarkower; Antonello Mallamaci; Thomas Theil; Kenneth Campbell; Tomas Pieler; Meng Li; Elizabeth A Grove; Eric J Bellefroid
Journal:  J Neurosci       Date:  2018-08-24       Impact factor: 6.167

9.  Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.

Authors:  Tahir N Khan; Kamal Khan; Azita Sadeghpour; Hannah Reynolds; Yezmin Perilla; Marie T McDonald; William B Gallentine; Shahid M Baig; Erica E Davis; Nicholas Katsanis
Journal:  Am J Hum Genet       Date:  2019-01-03       Impact factor: 11.025

10.  Neurodevelopmental Disorders or Early Death in Siblings of Children With Cerebral Palsy.

Authors:  Mette C Tollånes; Allen J Wilcox; Camilla Stoltenberg; Rolv T Lie; Dag Moster
Journal:  Pediatrics       Date:  2016-08       Impact factor: 7.124
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