311 related articles for article (PubMed ID: 32383243)
1. Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance.
Thai MHN; Gardner A; Redpath L; Mattiske T; Dearsley O; Shaw M; Vulto-van Silfhout AT; Pfundt R; Dixon J; McGaughran J; Pérez-Jurado LA; Gécz J; Shoubridge C
Hum Mutat; 2020 Aug; 41(8):1407-1424. PubMed ID: 32383243
[TBL] [Abstract][Full Text] [Related]
2. Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy.
Shoubridge C; Jackson M; Grinton B; Berkovic SF; Scheffer IE; Huskins S; Thomas A; Ware T
Am J Med Genet A; 2019 Aug; 179(8):1483-1490. PubMed ID: 31145546
[TBL] [Abstract][Full Text] [Related]
3. Further characterisation of
Gras M; Heide S; Keren B; Valence S; Garel C; Whalen S; Jansen AC; Keymolen K; Stouffs K; Jennesson M; Poirsier C; Lesca G; Depienne C; Nava C; Rastetter A; Curie A; Cuisset L; Des Portes V; Milh M; Charles P; Mignot C; Héron D
J Med Genet; 2024 Jan; 61(2):103-108. PubMed ID: 37879892
[TBL] [Abstract][Full Text] [Related]
4. An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.
Mattiske T; Moey C; Vissers LE; Thorne N; Georgeson P; Bakshi M; Shoubridge C
Hum Mutat; 2017 May; 38(5):548-555. PubMed ID: 28150386
[TBL] [Abstract][Full Text] [Related]
5. The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes.
Sherr EH
Curr Opin Pediatr; 2003 Dec; 15(6):567-71. PubMed ID: 14631200
[TBL] [Abstract][Full Text] [Related]
6. Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene.
Mattiske T; Lee K; Gecz J; Friocourt G; Shoubridge C
Hum Mol Genet; 2016 Dec; 25(24):5433-5443. PubMed ID: 27798109
[TBL] [Abstract][Full Text] [Related]
7. ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression.
Shoubridge C; Tan MH; Seiboth G; Gécz J
Hum Mol Genet; 2012 Apr; 21(7):1639-47. PubMed ID: 22194193
[TBL] [Abstract][Full Text] [Related]
8. Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy.
Jackson MR; Lee K; Mattiske T; Jaehne EJ; Ozturk E; Baune BT; O'Brien TJ; Jones N; Shoubridge C
Neurobiol Dis; 2017 Sep; 105():245-256. PubMed ID: 28602636
[TBL] [Abstract][Full Text] [Related]
9. Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX.
Conti V; Marini C; Gana S; Sudi J; Dobyns WB; Guerrini R
Am J Med Genet A; 2011 Apr; 155A(4):892-7. PubMed ID: 21416597
[TBL] [Abstract][Full Text] [Related]
10. Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene.
Fullston T; Finnis M; Hackett A; Hodgson B; Brueton L; Baynam G; Norman A; Reish O; Shoubridge C; Gecz J
Clin Genet; 2011 Dec; 80(6):510-22. PubMed ID: 21496008
[TBL] [Abstract][Full Text] [Related]
11. Clinical study of two brothers with a novel 33 bp duplication in the ARX gene.
Demos MK; Fullston T; Partington MW; Gécz J; Gibson WT
Am J Med Genet A; 2009 Jul; 149A(7):1482-6. PubMed ID: 19507262
[TBL] [Abstract][Full Text] [Related]
12. Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X).
Fullston T; Brueton L; Willis T; Philip S; MacPherson L; Finnis M; Gecz J; Morton J
Eur J Hum Genet; 2010 Feb; 18(2):157-62. PubMed ID: 19738637
[TBL] [Abstract][Full Text] [Related]
13. ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.
Bienvenu T; Poirier K; Friocourt G; Bahi N; Beaumont D; Fauchereau F; Ben Jeema L; Zemni R; Vinet MC; Francis F; Couvert P; Gomot M; Moraine C; van Bokhoven H; Kalscheuer V; Frints S; Gecz J; Ohzaki K; Chaabouni H; Fryns JP; Desportes V; Beldjord C; Chelly J
Hum Mol Genet; 2002 Apr; 11(8):981-91. PubMed ID: 11971879
[TBL] [Abstract][Full Text] [Related]
14. Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
Kato M; Das S; Petras K; Kitamura K; Morohashi KI; Abuelo DN; Barr M; Bonneau D; Brady AF; Carpenter NJ; Cipero KL; Frisone F; Fukuda T; Guerrini R; Iida E; Itoh M; Lewanda AF; Nanba Y; Oka A; Proud VK; Saugier-Veber P; Schelley SL; Selicorni A; Shaner R; Silengo M; Stewart F; Sugiyama N; Toyama J; Toutain A; Vargas AL; Yanazawa M; Zackai EH; Dobyns WB
Hum Mutat; 2004 Feb; 23(2):147-159. PubMed ID: 14722918
[TBL] [Abstract][Full Text] [Related]
15. Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.
Marsh E; Fulp C; Gomez E; Nasrallah I; Minarcik J; Sudi J; Christian SL; Mancini G; Labosky P; Dobyns W; Brooks-Kayal A; Golden JA
Brain; 2009 Jun; 132(Pt 6):1563-76. PubMed ID: 19439424
[TBL] [Abstract][Full Text] [Related]
16. Mutation screening of the Aristaless-related homeobox (ARX) gene in Thai pediatric patients with delayed development: first report from Thailand.
Rujirabanjerd S; Tongsippunyoo K; Sripo T; Limprasert P
Eur J Med Genet; 2007; 50(5):346-54. PubMed ID: 17613295
[TBL] [Abstract][Full Text] [Related]
17. A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder.
Barington M; Risom L; Ek J; Uldall P; Ostergaard E
Eur J Hum Genet; 2018 Sep; 26(9):1388-1391. PubMed ID: 29795476
[TBL] [Abstract][Full Text] [Related]
18. Further Delineation of Duplications of
Poeta L; Malacarne M; Padula A; Drongitis D; Verrillo L; Lioi MB; Chiariello AM; Bianco S; Nicodemi M; Piccione M; Salzano E; Coviello D; Miano MG
Int J Mol Sci; 2022 Mar; 23(6):. PubMed ID: 35328505
[TBL] [Abstract][Full Text] [Related]
19. Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures.
Poeta L; Padula A; Lioi MB; van Bokhoven H; Miano MG
Genes (Basel); 2021 Jul; 12(7):. PubMed ID: 34356104
[TBL] [Abstract][Full Text] [Related]
20. ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV.
Kwong AK; Chu VL; Rodenburg RJT; Smeitink J; Fung CW
Brain Dev; 2019 Nov; 41(10):883-887. PubMed ID: 31324350
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
