Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans
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Deletion of ultraconserved elements yields viable miceX-linked disorders with cerebellar dysgenesisAnalysis of four DLX homeobox genes in autistic probandsDisruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardationSeizures and X-linked intellectual disabilityRegulatory long non-coding RNAs and neuronal disordersDlx5 and Dlx6 regulate the development of parvalbumin-expressing cortical interneurons.Male sex determination: insights into molecular mechanismsA longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)Genes and brain malformations associated with abnormal neuron positioningCellullar insights into cerebral cortical development: focusing on the locomotion mode of neuronal migrationTALE transcription factors during early development of the vertebrate brain and eyeFragile X and X-linked intellectual disability: four decades of discoveryConditional Loss of Arx From the Developing Dorsal Telencephalon Results in Behavioral Phenotypes Resembling Mild Human ARX Mutations.The Transcriptional Activator Krüppel-like Factor-6 Is Required for CNS MyelinationMice lacking Dlx1 show subtype-specific loss of interneurons, reduced inhibition and epilepsyThe LIM-homeobox gene Islet-1 is required for the development of restricted forebrain cholinergic neuronsThe RHOX5 homeodomain protein mediates transcriptional repression of the netrin-1 receptor gene Unc5cArx is required for normal enteroendocrine cell development in mice and humansHigh-throughput analysis of promoter occupancy reveals new targets for Arx, a gene mutated in mental retardation and interneuronopathiesLis1 is necessary for normal non-radial migration of inhibitory interneuronsA regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARXInactivation 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 differentiationPdgfr-alpha mediates testis cord organization and fetal Leydig cell development in the XY gonadPossible functional links among brain- and skull-related genes selected in modern humansCaenorhabditis elegans aristaless/Arx gene alr-1 restricts variable gene expressionA Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3De Novo Mutations in EBF3 Cause a Neurodevelopmental SyndromeIdentification of a Protein Network Driving Neuritogenesis of MGE-Derived GABAergic Interneurons.Xenopus mutant reveals necessity of rax for specifying the eye field which otherwise forms tissue with telencephalic and diencephalic character.Disturbances in the positioning, proliferation and apoptosis of neural progenitors contribute to subcortical band heterotopia formation.Expression of the Ladybird-like homeobox 2 transcription factor in the developing mouse testis and epididymisA triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairmentTargeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.KCC2 expression promotes the termination of cortical interneuron migration in a voltage-sensitive calcium-dependent manner.The LIM homeodomain protein Lhx6 regulates maturation of interneurons and network excitability in the mammalian cortex.The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.Neonatal estradiol stimulation prevents epilepsy in Arx model of X-linked infantile spasms syndrome.The genetics of lissencephaly.Neuronal migration disorders, genetics, and epileptogenesis.
P2860
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P2860
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans
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2002 nî lūn-bûn
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2002 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Mutation of ARX causes abnorma ...... h abnormal genitalia in humans
@ast
Mutation of ARX causes abnorma ...... h abnormal genitalia in humans
@en
Mutation of ARX causes abnorma ...... h abnormal genitalia in humans
@nl
type
label
Mutation of ARX causes abnorma ...... h abnormal genitalia in humans
@ast
Mutation of ARX causes abnorma ...... h abnormal genitalia in humans
@en
Mutation of ARX causes abnorma ...... h abnormal genitalia in humans
@nl
prefLabel
Mutation of ARX causes abnorma ...... h abnormal genitalia in humans
@ast
Mutation of ARX causes abnorma ...... h abnormal genitalia in humans
@en
Mutation of ARX causes abnorma ...... h abnormal genitalia in humans
@nl
P2093
P2860
P50
P921
P3181
P356
P1433
P1476
Mutation of ARX causes abnorma ...... h abnormal genitalia in humans
@en
P2093
Akiko Iizuka-Kogo
Hidefumi Yoshioka
Hirohito Miura
Ikuko Kondo
Kayo Omichi
Ken-ichirou Morohashi
Kunio Kitamura
Kyoko Kamiirisa
Masako Yanazawa
Masatomo Kusaka
P2860
P2888
P304
P3181
P356
10.1038/NG1009
P407
P577
2002-11-01T00:00:00Z