X-linked mental retardation

Common Name(s)

X-linked mental retardation

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "X-linked mental retardation" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "X-linked mental retardation" returned 119 free, full-text research articles on human participants. First 3 results:

Characterization of the Drosophila group ortholog to the amino-terminus of the alpha-thalassemia and mental retardation X-Linked (ATRX) vertebrate protein.
 

Author(s): Brenda López-Falcón, Silvia Meyer-Nava, Benjamín Hernández-Rodríguez, Adam Campos, Daniel Montero, Enrique Rudiño, Martha Vázquez, Mario Zurita, Viviana Valadez-Graham

Journal:

 

The human ATRX gene encodes hATRX, a chromatin-remodeling protein harboring an helicase/ATPase and ADD domains. The ADD domain has two zinc fingers that bind to histone tails and mediate hATRX binding to chromatin. dAtrx, the putative ATRX homolog in Drosophila melanogaster, has a ...

Last Updated: 2 Dec 2014

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Identification and glycerol-induced correction of misfolding mutations in the X-linked mental retardation gene CASK.
 

Author(s): Leslie E W LaConte, Vrushali Chavan, Konark Mukherjee

Journal:

 

The overwhelming amount of available genomic sequence variation information demands a streamlined approach to examine known pathogenic mutations of any given protein. Here we seek to outline a strategy to easily classify pathogenic missense mutations that cause protein misfolding ...

Last Updated: 7 Feb 2014

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Neuroradiologic features in X-linked α-thalassemia/mental retardation syndrome.
 

Author(s): T Wada, H Ban, M Matsufuji, N Okamoto, K Enomoto, K Kurosawa, N Aida

Journal: AJNR Am J Neuroradiol. 2013 Oct;34(10):2034-8.

 

X-linked α-thalassemia/mental retardation syndrome (Mendelian Inheritance in Man, 301040) is one of the X-linked intellectual disability syndromes caused by mutations of the ATRX gene and characterized by male predominance, central hypotonic facies, severe cognitive dysfunction, ...

Last Updated: 9 Oct 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "X-linked mental retardation" returned 17 free, full-text review articles on human participants. First 3 results:

X linked mental retardation.
 

Author(s): Imen Rejeb, Lamia Ben Jemaa, Habiba Chaabouni

Journal: Tunis Med. 2009 May;87(5):311-8.

 

Mental retardation (MR) is a group of heterogeneous clinical conditions. There are more than 900 genetic disorders associated with MR and it affects around 3% of the general population. Many MR conditions described are syndromic, fragile X syndrome being the most common clinical entity ...

Last Updated: 20 Nov 2009

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X-linked mental retardation: focus on synaptic function and plasticity.
 

Author(s): Yann Humeau, Frédéric Gambino, Jamel Chelly, Nicolas Vitale

Journal: J. Neurochem.. 2009 Apr;109(1):1-14.

 

Among mental disorders, mental retardation has been shown to be caused by various factors including a large array of genetic mutations. On the basis of remarkable progress, the emerging view is that defects in the regulation of synaptic activity and morphogenesis of dendritic spines ...

Last Updated: 18 Mar 2009

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X-linked mental retardation and epigenetics.
 

Author(s): Guy Froyen, Marijke Bauters, Thierry Voet, Peter Marynen

Journal: J. Cell. Mol. Med.. ;10(4):808-25.

 

The search for the genetic defects in constitutional diseases has so far been restricted to direct methods for the identification of genetic mutations in the patients' genome. Traditional methods such as karyotyping, FISH, mutation screening, positional cloning and CGH, have been ...

Last Updated: 27 Nov 2006

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 13 Oct 2016

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Observational Study of Males With Creatine Transporter Deficiency
 

Status: Recruiting

Condition Summary: Creatine Deficiency, X-linked

 

Last Updated: 24 Oct 2016

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A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy
 

Status: Recruiting

Condition Summary: X-linked Adrenoleukodystrophy

 

Last Updated: 12 Oct 2016

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