Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
about
Deletion of ultraconserved elements yields viable miceX-linked disorders with cerebellar dysgenesisAutism and brain developmentA longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) geneCellullar insights into cerebral cortical development: focusing on the locomotion mode of neuronal migrationGenetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental modelsFragile X and X-linked intellectual disability: four decades of discoveryGenetic Basis of Brain MalformationsObtaining genetic testing in pediatric epilepsyEarly onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutationHigh-throughput analysis of promoter occupancy reveals new targets for Arx, a gene mutated in mental retardation and interneuronopathiesA regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARXA Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.The genetics of lissencephaly.Neuronal migration disorders, genetics, and epileptogenesis.MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansionsRegulatory pathway analysis by high-throughput in situ hybridization.Genetics and biology of microcephaly and lissencephalyMutations 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.Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.Infantile spasms: review of the literature and personal experience.Mutations in ARX Result in Several Defects Involving GABAergic Neurons.Molecular genetics of neuronal migration disorders.Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.The Caenorhabditis elegans aristaless orthologue, alr-1, is required for maintaining the functional and structural integrity of the amphid sensory organs.Regulation of histone H3K4 methylation in brain development and disease.The homeodomain-containing transcription factors Arx and Pax4 control enteroendocrine subtype specification in miceThe genetic basis of non-syndromic intellectual disability: a reviewOhtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X).Genotypically defined lissencephalies show distinct pathologies.Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephalyMutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.Infantile hydrocephalus: a review of epidemiology, classification and causes.Altered GABA signaling in early life epilepsies.Malformations of cortical development: clinical features and genetic causesDevelopmental interneuron subtype deficits after targeted loss of Arx
P2860
Q21092753-D92DA5C2-1ABD-412E-9771-116A20474577Q21202871-B57F78B3-E64B-412F-A726-271E745E2618Q22252316-C8F3E2F2-A81B-4A14-AD41-B6FB798CA5BCQ24678062-8B9B3AE4-2351-405E-8283-950AF8829481Q24810185-622EE553-1CFD-4534-8D2D-A86BACCD7CB6Q26779317-20D4E05D-DBA7-4F7A-A3DA-5873D7642F08Q26861471-B95BAA09-4D52-4FE8-921F-3EFC4351A4DEQ27027343-BC47A65D-2CCD-47D0-9A11-0E1E26EA7E35Q28076998-08089357-B64D-429C-B610-1B6F467D2C11Q28082549-6D0FFB79-92FA-4AF3-BE21-5ED806329A7AQ28262194-233E8716-290D-4C51-BE01-BBD95750E0F3Q28506691-1DE46AB1-5384-4B11-AF40-67318F1FECEDQ28508740-5DD8F1D4-68F9-4812-BA48-B47CB440DDF1Q29147508-A4D12373-AF08-490E-8E72-8DD89FE00A46Q30487790-585C1813-EA2E-43D7-B6F8-2B4D023D10BFQ30577795-1466CB2C-8318-41A2-A281-F9F25023562AQ30826834-F3023308-F5E8-4F15-9176-273F8833805AQ30990797-BDA1D6D2-CABA-4E44-BED8-BB9C5791B9C3Q33283739-032204DC-CF78-4588-BF38-23D6669E2773Q33303447-F3672902-55E5-4F25-B7F7-184F054C23E3Q33506556-B29056D1-A279-4007-9535-700048E79627Q33641779-A481DD2D-0B43-4984-99DF-896B542C54FEQ33654193-A4D62C7F-0492-450B-8E15-E2FF9C0257F0Q33692321-4FE41879-D716-41AF-8499-F259977D2423Q33738402-DD0C4ABA-6FEE-4626-8DC4-1F31F9F02DC9Q33790169-3B5280BD-F120-4194-84A3-16AE046F66A1Q33910551-CBE645B1-A521-4E78-888A-BA270F56133CQ34049748-089D248A-CF03-4689-98D8-15B1E50A3C94Q34079415-AFB83D06-DB55-4AC5-97E2-09881C52284CQ34263325-AF1B624B-E225-4D11-892F-77C4BE5C1B5EQ34283901-E5A3F7F0-A023-429C-85E6-5AF3C4525823Q34328518-7D98B826-5C16-4E4D-9219-BA77203B5841Q34458337-3B055F24-1CD8-4DB2-B6C7-15026854A892Q34479643-64951C64-886B-4191-A03B-FA06E49AD811Q34566623-72FDC7B5-0C47-4C52-A1A1-4F1E2AE746CAQ34633997-3688DC2C-7BD1-4507-907E-8FBC9C5C49EDQ35101052-6642E085-FBB8-4954-BC56-EC8D760FF353Q35147300-8894F3A2-C36F-48AD-A5D6-84D2568362C1Q35188898-ABAA988C-EE3E-456B-AB44-F7FB2FB4D878Q36048943-6F62BD76-872C-408D-BA27-46FD3FBC8CD9
P2860
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
Mutations of ARX are associate ...... enotype-phenotype correlation.
@en
type
label
Mutations of ARX are associate ...... enotype-phenotype correlation.
@en
prefLabel
Mutations of ARX are associate ...... enotype-phenotype correlation.
@en
P2093
P2860
P50
P356
P1433
P1476
Mutations of ARX are associate ...... enotype-phenotype correlation.
@en
P2093
Amy Feldman Lewanda
Ana Lía Vargas
Angela F Brady
Angelo Selicorni
Diane N Abuelo
Dominique Bonneau
Elaine H Zackai
Fiona Stewart
P2860
P304
P356
10.1002/HUMU.10310
P577
2004-02-01T00:00:00Z