ARX mutations in X-linked lissencephaly with abnormal genitalia.
about
Fragile X and X-linked intellectual disability: four decades of discoveryInactivation of Arx, the murine ortholog of the X-linked lissencephaly with ambiguous genitalia gene, leads to severe disorganization of the ventral telencephalon with impaired neuronal migration and differentiationThe c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division.Mutations in ARX Result in Several Defects Involving GABAergic Neurons.A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death.The role of ARX in cortical development.Brain malformations associated with cell migration.Identification of Arx transcriptional targets in the developing basal forebrain.Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.Arx polyalanine expansion in mice leads to reduced pancreatic α-cell specification and increased α-cell death.ARX spectrum disorders: making inroads into the molecular pathology.Developmental mechanisms for the generation of telencephalic interneurons.Genetics, molecular biology, and phenotypes of x-linked epilepsy.Clinical Images: Postterm Newborn with Lissencephaly Presented with Seizure: Case Report and Review of Literature.A Neonate with X-linked Lissencephaly with Ambiguous Genitalia.Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome.Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly.Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG).xArx2: an aristaless homolog that regulates brain regionalization during development in Xenopus laevis.A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females.Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.ZFH4 protein is expressed in many neurons of developing rat brain.X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease.INTERNEURONOPATHIES AND THEIR ROLE IN EARLY LIFE EPILEPSIES AND NEURODEVELOPMENTAL DISORDERS.Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX
P2860
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P2860
ARX mutations in X-linked lissencephaly with abnormal genitalia.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
2003年论文
@zh
2003年论文
@zh-cn
name
ARX mutations in X-linked lissencephaly with abnormal genitalia.
@en
type
label
ARX mutations in X-linked lissencephaly with abnormal genitalia.
@en
prefLabel
ARX mutations in X-linked lissencephaly with abnormal genitalia.
@en
P2093
P1433
P1476
ARX mutations in X-linked lissencephaly with abnormal genitalia.
@en
P2093
Marschner-Schäfer H
P304
P356
10.1212/01.WNL.0000079371.19562.BA
P407
P577
2003-07-01T00:00:00Z