Literature DB >> 10417298

Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias.

A M Lossi, J M Millán, L Villard, C Orellana, C Cardoso, F Prieto, M Fontés, F Martínez.   

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Year:  1999        PMID： 10417298      PMCID： PMC1377954          DOI： 10.1086/302499

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  8 in total

1.  Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease.

Authors:  L Villard; N Lévy; F Xiang; A Kpebe; V Labelle; C Chevillard; Z Zhang; C E Schwartz; M Tardieu; J Chelly; M Anvret; M Fontès
Journal:  J Med Genet       Date:  2001-07       Impact factor: 6.318

2.  A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation.

Authors:  Ilse Wieland; Julia Sabathil; Anne Ostendorf; Olaf Rittinger; Albrecht Röpke; Birgitta Winnepenninckx; Frank Kooy; Elke Holinski-Feder; Peter Wieacker
Journal:  Neurogenetics       Date:  2005-02       Impact factor: 2.660

3.  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

4.  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 5.  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

6.  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 7.  Alpha thalassaemia-mental retardation, X linked.

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

8.  X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene.

Authors:  Fatemeh Shakarami; Mehdi Jahani; Zahra Nouri; Mohammad Amin Tabatabaiefar
Journal:  Mol Genet Genomic Med       Date:  2022-08-13       Impact factor: 2.473
  8 in total

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