The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review-Reference-Cited by-同舟云学术

The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review

Published:2019-02-22 Issue: Volume:10 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Lopes Fátima,Torres Fátima,Soares Gabriela,van Karnebeek Clara D.,Martins Cecília,Antunes Diana,Silva João,Muttucomaroe Lauren,Botelho Luís Filipe,Sousa Susana,Rendeiro Paula,Tavares Purificação,Van Esch Hilde,Rajcan-Separovic Evica,Maciel Patrícia

Publisher

Frontiers Media SA

Subject

Genetics (clinical),Genetics,Molecular Medicine

Reference43 articles.

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2. High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44;Ballif;Hum. Genet.,2012

3. Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum;Boland;Am. J. Hum. Genet.,2007

4. Across array comparative genomic hybridization: a strategy to reduce reference channel hybridizations;Buffart;Genes. Chromosomes Cancer,2008

5. Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene;Caliebe;Eur. J. Med. Genet.,2010

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1. The molecular genetics of PI3K/PTEN/AKT/mTOR pathway in the malformations of cortical development;Genes & Diseases;2023-07

2. Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature;Journal of Autism and Developmental Disorders;2022-12-11

3. Rare CNVs and Known Genes Linked to Macrocephaly: Review of Genomic Loci and Promising Candidate Genes;Genes;2022-12-04

4. BN82002 alleviated tissue damage of septic mice by reducing inflammatory response through inhibiting AKT2/NF-κB signaling pathway;Biomedicine & Pharmacotherapy;2022-04

5. Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes;American Journal of Medical Genetics Part A;2021-06-04