Literature DB >> 15630421

X-linked mental retardation.

H-Hilger Ropers1, Ben C J Hamel.   

Abstract

Genetic factors have an important role in the aetiology of mental retardation. However, their contribution is often underestimated because in developed countries, severely affected patients are mainly sporadic cases and familial cases are rare. X-chromosomal mental retardation is the exception to this rule, and this is one of the reasons why research into the genetic and molecular causes of mental retardation has focused almost entirely on the X-chromosome. Here, we review the remarkable recent progress in this field, its promise for understanding neural function, learning and memory, and the implications of this research for health care.

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Year:  2005        PMID: 15630421     DOI: 10.1038/nrg1501

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN: 1471-0056            Impact factor:   53.242


  136 in total

1.  A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics.

Authors:  Shawn Witham; Kyoko Takano; Charles Schwartz; Emil Alexov
Journal:  Proteins       Date:  2011-05-31

2.  The LCR at the IKBKG locus is prone to recombine.

Authors:  Francesca Fusco; Michele D'Urso; Maria Giuseppina Miano; Matilde Valeria Ursini
Journal:  Am J Hum Genet       Date:  2010-04-09       Impact factor: 11.025

Review 3.  Genetics in child and adolescent psychiatry: methodological advances and conceptual issues.

Authors:  Sarah Hohmann; Nicoletta Adamo; Benjamin B Lahey; Stephen V Faraone; Tobias Banaschewski
Journal:  Eur Child Adolesc Psychiatry       Date:  2015-04-08       Impact factor: 4.785

4.  Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation.

Authors:  Patrick S Tarpey; Claire Stevens; Jon Teague; Sarah Edkins; Sarah O'Meara; Tim Avis; Syd Barthorpe; Gemma Buck; Adam Butler; Jennifer Cole; Ed Dicks; Kristian Gray; Kelly Halliday; Rachel Harrison; Katy Hills; Jonathon Hinton; David Jones; Andrew Menzies; Tatiana Mironenko; Janet Perry; Keiran Raine; David Richardson; Rebecca Shepherd; Alexandra Small; Calli Tofts; Jennifer Varian; Sofie West; Sara Widaa; Andy Yates; Rachael Catford; Julia Butler; Uma Mallya; Jenny Moon; Ying Luo; Huw Dorkins; Deborah Thompson; Douglas F Easton; Richard Wooster; Martin Bobrow; Nancy Carpenter; Richard J Simensen; Charles E Schwartz; Roger E Stevenson; Gillian Turner; Michael Partington; Jozef Gecz; Michael R Stratton; P Andrew Futreal; F Lucy Raymond
Journal:  Am J Hum Genet       Date:  2006-11-01       Impact factor: 11.025

Review 5.  The genetics of autism spectrum disorders.

Authors:  Dorothy E Grice; Joseph D Buxbaum
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

6.  Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans.

Authors:  Ye Wu; Amy C Arai; Gavin Rumbaugh; Anand K Srivastava; Gillian Turner; Takashi Hayashi; Erika Suzuki; Yuwu Jiang; Lilei Zhang; Jayson Rodriguez; Jackie Boyle; Patrick Tarpey; F Lucy Raymond; Joke Nevelsteen; Guy Froyen; Mike Stratton; Andy Futreal; Jozef Gecz; Roger Stevenson; Charles E Schwartz; David Valle; Richard L Huganir; Tao Wang
Journal:  Proc Natl Acad Sci U S A       Date:  2007-11-07       Impact factor: 11.205

7.  Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays.

Authors:  Juliane Hoyer; Alexander Dreweke; Christian Becker; Ina Göhring; Christian T Thiel; Maarit M Peippo; Ralf Rauch; Michael Hofbeck; Udo Trautmann; Christiane Zweier; Martin Zenker; Ulrike Hüffmeier; Cornelia Kraus; Arif B Ekici; Franz Rüschendorf; Peter Nürnberg; André Reis; Anita Rauch
Journal:  J Med Genet       Date:  2007-06-29       Impact factor: 6.318

Review 8.  Rho-linked genes and neurological disorders.

Authors:  Nael Nadif Kasri; Linda Van Aelst
Journal:  Pflugers Arch       Date:  2007-11-15       Impact factor: 3.657

9.  Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.

Authors:  Asif Mir; Liana Kaufman; Abdul Noor; Mahdi M Motazacker; Talal Jamil; Matloob Azam; Kimia Kahrizi; Muhammad Arshad Rafiq; Rosanna Weksberg; Tanveer Nasr; Farooq Naeem; Andreas Tzschach; Andreas W Kuss; Gisele E Ishak; Dan Doherty; H Hilger Ropers; A James Barkovich; Hossein Najmabadi; Muhammad Ayub; John B Vincent
Journal:  Am J Hum Genet       Date:  2009-12       Impact factor: 11.025

Review 10.  Effects of sex chromosome aneuploidies on brain development: evidence from neuroimaging studies.

Authors:  Rhoshel K Lenroot; Nancy Raitano Lee; Jay N Giedd
Journal:  Dev Disabil Res Rev       Date:  2009
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