LIS1 Missense Mutations
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry
Reference48 articles.
1. Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats
2. A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome
3. doublecortin, a Brain-Specific Gene Mutated in Human X-Linked Lissencephaly and Double Cortex Syndrome, Encodes a Putative Signaling Protein
4. LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation
5. Lissencephaly
Cited by 29 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. Activation of RhoC by regulatory ubiquitination is mediated by LNX1 and suppressed by LIS1;Scientific Reports;2022-10-03
2. Structural Consequence of Non-Synonymous Single-Nucleotide Variants in the N-Terminal Domain of LIS1;International Journal of Molecular Sciences;2022-03-14
3. Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development;Premio Tesi di Dottorato;2021
4. A Further Case of Larsen's Syndrome: Clinical and Genotypic Challenges in Diagnosis;Journal of Pediatric Genetics;2020-10-19
5. New insights into the mechanism of dynein motor regulation by lissencephaly-1;eLife;2020-07-21
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