Literature DB >> 10398237

Carpenter-Waziri syndrome results from a mutation in XNP.

F Abidi, C E Schwartz, N J Carpenter, L Villard, M Fontés, M Curtis.   

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Year:  1999        PMID： 10398237     DOI： 10.1002/(sici)1096-8628(19990730)85:3<249::aid-ajmg12>3.0.co;2-u

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  10 in total

1.  Glial and neuronal functions of the Drosophila homolog of the human SWI/SNF gene ATR-X (DATR-X) and the jing zinc-finger gene specify the lateral positioning of longitudinal glia and axons.

Authors:  Xuetao Sun; Tatiana Morozova; Margaret Sonnenfeld
Journal:  Genetics       Date:  2006-04-28       Impact factor: 4.562

2.  The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis.

Authors:  Nathalie G Bérubé; Marie Mangelsdorf; Magdalena Jagla; Jackie Vanderluit; David Garrick; Richard J Gibbons; Douglas R Higgs; Ruth S Slack; David J Picketts
Journal:  J Clin Invest       Date:  2005-02       Impact factor: 14.808

3.  ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein.

Authors:  C Cardoso; Y Lutz; C Mignon; E Compe; D Depetris; M G Mattei; M Fontes; L Colleaux
Journal:  J Med Genet       Date:  2000-10       Impact factor: 6.318

Review 4.  Fragile X and X-linked intellectual disability: four decades of discovery.

Authors:  Herbert A Lubs; Roger E Stevenson; Charles E Schwartz
Journal:  Am J Hum Genet       Date:  2012-04-06       Impact factor: 11.025

Review 5.  Fruit flies and intellectual disability.

Authors:  François V Bolduc; Tim Tully
Journal:  Fly (Austin)       Date:  2009-01-12       Impact factor: 2.160

Review 6.  The role of genetics in the establishment and maintenance of the epigenome.

Authors:  Covadonga Huidobro; Agustin F Fernandez; Mario F Fraga
Journal:  Cell Mol Life Sci       Date:  2013-03-10       Impact factor: 9.261

7.  Aberrant calcium/calmodulin-dependent protein kinase II (CaMKII) activity is associated with abnormal dendritic spine morphology in the ATRX mutant mouse brain.

Authors:  Norifumi Shioda; Hideyuki Beppu; Takaichi Fukuda; En Li; Isao Kitajima; Kohji Fukunaga
Journal:  J Neurosci       Date:  2011-01-05       Impact factor: 6.167

Review 8.  Alpha thalassaemia-mental retardation, X linked.

Authors:  Richard Gibbons
Journal:  Orphanet J Rare Dis       Date:  2006-05-04       Impact factor: 4.123

9.  ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing.

Authors:  S Moncini; M F Bedeschi; P Castronovo; M Crippa; M Calvello; R R Garghentino; G Scuvera; P Finelli; M Venturin
Journal:  Meta Gene       Date:  2013-10-29

10.  Identification of a Hemizygous Novel Splicing Variant in ATRX Gene: A Case Report and Literature Review.

Authors:  Yan Cong; Jie Wu; Hao Wang; Ke Wu; Cui Huang; Xuejian Yang
Journal:  Front Pediatr       Date:  2022-04-04       Impact factor: 3.418
  10 in total

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