Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
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The DNA sequence of the human X chromosomeMutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarismDisruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardationMutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardationX-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin familyTranscription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiencySeizures and X-linked intellectual disabilityFOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlationRett syndrome: clinical review and genetic updateA longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)Mapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneityA third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patientsMutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitusDisruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and miceXLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) geneRecent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practiceFragile X and X-linked intellectual disability: four decades of discoveryPathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studiesCrystal structures of engrailed homeodomain mutants: implications for stability and dynamicsUnderstanding Genotypes and Phenotypes in Epileptic EncephalopathiesVariable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutationMutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humansArx is required for normal enteroendocrine cell development in mice and humansA 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 differentiationA Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3De Novo Mutations in EBF3 Cause a Neurodevelopmental SyndromeNovel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.Central Alveolar Hypoventilation Syndromes.A 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 impairmentThe 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.X-linked mental retardation (XLMR): from clinical conditions to cloned genes.MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansionsOrigin and evolution of candidate mental retardation genes on the human X chromosome (MRX)Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.Genetics and biology of microcephaly and lissencephaly
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P2860
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
description
2002 nî lūn-bûn
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2002 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2002 թվականի ապրիլին 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
Mutations in the human ortholo ...... ental retardation and epilepsy
@ast
Mutations in the human ortholo ...... ental retardation and epilepsy
@en
Mutations in the human ortholo ...... ental retardation and epilepsy
@nl
type
label
Mutations in the human ortholo ...... ental retardation and epilepsy
@ast
Mutations in the human ortholo ...... ental retardation and epilepsy
@en
Mutations in the human ortholo ...... ental retardation and epilepsy
@nl
prefLabel
Mutations in the human ortholo ...... ental retardation and epilepsy
@ast
Mutations in the human ortholo ...... ental retardation and epilepsy
@en
Mutations in the human ortholo ...... ental retardation and epilepsy
@nl
P2093
P50
P356
P1433
P1476
Mutations in the human ortholo ...... ental retardation and epilepsy
@en
P2093
Agi K Gedeon
Helene Bruyere
John C Mulley
Marie A Shaw
Michael Partington
Petter Strømme
Robyn H Wallace
Suzanna G M Frints
Suzanne M E Lewis
Viggo Lütcherath
P2888
P356
10.1038/NG862
P407
P50
P577
2002-04-01T00:00:00Z