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Doublecortin Is a Developmentally Regulated, Microtubule-Associated Protein Expressed in Migrating and Differentiating Neurons
It is shown that Doublecortin is expressed in the brain throughout the period of corticogenesis in migrating and differentiating neurons, and Immunohistochemical studies show its localization in the soma and leading processes of tangentially migrating neuron, and a strong axonal labeling is observed in differentiating neuron.
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.
A large French family including members affected by nonspecific X-linked mental retardation, with or without autism or pervasive developmental disorder in affected male patients, has been found to
A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome
The complete disorganization observed in lissencephaly and heterotopia seems to reflect a failure of early events associated with neuron dispersion.
Somatic mutations of the beta-catenin gene are frequent in mouse and human hepatocellular carcinomas.
Hepatocellular carcinoma (HCC) is the major primary malignant tumor in the human liver, but the molecular changes leading to liver cell transformation remain largely unknown. The Wnt-beta-catenin
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.
The absence of detectable brain malformations in patients suggests that ARX may have an essential role, in mature neurons, required for the development of cognitive abilities.
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.
The distribution and frequency of deletions spanning the entire locus suggests that many "in-frame" deletions of the dystrophin gene are not detected because the individuals bearing them are either asymptomatic or exhibit non-DMD/non-BMD clinical features.
Mutations in α-Tubulin Cause Abnormal Neuronal Migration in Mice and Lissencephaly in Humans
The utility of ENU mutagenesis in the mouse as a means to discover the basis of human neurodevelopmental disorders is demonstrated and the causative mutation lies in the guanosine triphosphate (GTP) binding pocket of α-1 tubulin (Tuba1) and affects tubulin heterodimer formation.
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation
The results demonstrate an association between cognitive impairment and a defect in a signalling pathway that depends on a Ras-like GTPase, which is known to affect cell migration and outgrowth of axons and dendrites in vivo.
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
The discovery of six novel missense mutations in the TUBB3 gene are reported, including one fetal case and one homozygous variation, in nine patients that all share cortical disorganization, axonal abnormalities associated with pontocerebellar hypoplasia, but with no ocular motility defects, CFEOM3.
Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein
Nucleotide sequence analysis of XK from two unrelated McLeod patients has identified point mutations at conserved splice donor and acceptor sites that provide direct evidence that XK is responsible for McLeod syndrome.