Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum-Reference-Cited by-同舟云学术

Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum

Published:2007-08 Issue:2 Volume:81 Page:292-303
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Boland Elena,Clayton-Smith Jill,Woo Victoria G.,McKee Shane,Manson Forbes D.C.,Medne Livija,Zackai Elaine,Swanson Eric A.,Fitzpatrick David,Millen Kathleen J.,Sherr Elliott H.,Dobyns William B.,Black Graeme C.M.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference40 articles.

1. Identification of sonic hedgehog as a candidate gene responsible for holoprosencephaly;Belloni;Nat Genet,1996

2. Mutations in the human sonic hedgehog gene cause holoprosencephaly;Roessler;Nat Genet,1996

3. Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination;Gripp;Nat Genet,2000

4. Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly;Wallis;Nat Genet,1999

5. A large field CCD system for quantitative imaging of microarrays;Hamilton;Nucleic Acids Res,2006

Cited by 141 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. Identification of body coloration related genes in ricefield eel (Monopterus albus) using GWAS;Aquaculture;2025-01

2. Fetal agenesis of corpus callosum: chromosomal copy number abnormalities and postnatal follow-up;Molecular Biology Reports;2024-07-30

3. Synergistic hyperactivation of both mTORC1 and mTORC2 underlies the neural abnormalities of PTEN-deficient human neurons and cortical organoids;Cell Reports;2024-05

4. CREB: A multifaceted transcriptional regulator of neural and immune function in CNS tumors;Brain, Behavior, and Immunity;2024-02

5. Transcription factors in microcephaly;Frontiers in Neuroscience;2023-11-29