Literature DB >> 15151510

Candidate genes for recessive non-syndromic mental retardation on chromosome 3p (MRT2A).

J J Higgins1, J Pucilowska, R Q Lombardi, J P Rooney.   

Abstract

A mild type of autosomal recessive, non-syndromic mental retardation (NSMR) is linked to loci on chromosome 3p. This report delimits the MRT2A minimal critical region to 4.2 Mb between loci D3S3630 and D3S1304. This interval contains nine genes (IL5RA, TRNT1, LRRN1, SETMAR, SUMF1, ITPR1, BHLHB2, EDEM, and MRPS36P1). The results suggest that a mutation does not exist in these genes and that an unknown transcript in the region contributes to the cognitive deficits in NSMR.

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Year:  2004        PMID： 15151510     DOI： 10.1111/j.0009-9163.2004.00267.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  11 in total

1.  A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation.

Authors:  Joseph J Higgins; Joanna Pucilowska; Roni Q Lombardi; John P Rooney
Journal:  Neurology       Date:  2004-11-23       Impact factor: 9.910

2.  The transposase domain protein Metnase/SETMAR suppresses chromosomal translocations.

Authors:  Justin Wray; Elizabeth A Williamson; Sean Chester; Jacqueline Farrington; Rosa Sterk; David M Weinstock; Maria Jasin; Suk-Hee Lee; Jac A Nickoloff; Robert Hromas
Journal:  Cancer Genet Cytogenet       Date:  2010-07-15

3.  Evidence of selection signatures that shape the Persian cat breed.

Authors:  Francesca Bertolini; Barbara Gandolfi; Eui Soo Kim; Bianca Haase; Leslie A Lyons; Max F Rothschild
Journal:  Mamm Genome       Date:  2016-03-08       Impact factor: 2.957

4.  Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation.

Authors:  Katarzyna Borg; Paweł Stankiewicz; Ewa Bocian; Anna Kruczek; Ewa Obersztyn; James R Lupski; Tadeusz Mazurczak
Journal:  Hum Genet       Date:  2005-11-15       Impact factor: 4.132

Review 5.  Neurexins, neuroligins and LRRTMs: synaptic adhesion getting fishy.

Authors:  Gavin J Wright; Philip Washbourne
Journal:  J Neurochem       Date:  2011-01-19       Impact factor: 5.372

6.  Behavioral characterization of cereblon forebrain-specific conditional null mice: a model for human non-syndromic intellectual disability.

Authors:  Anjali M Rajadhyaksha; Stephen Ra; Sarah Kishinevsky; Anni S Lee; Peter Romanienko; Mariel DuBoff; Chingwen Yang; Bojana Zupan; Maureen Byrne; Zeeba R Daruwalla; Willie Mark; Barry E Kosofsky; Miklos Toth; Joseph J Higgins
Journal:  Behav Brain Res       Date:  2011-10-04       Impact factor: 3.332

Review 7.  Metnase/SETMAR: a domesticated primate transposase that enhances DNA repair, replication, and decatenation.

Authors:  Montaser Shaheen; Elizabeth Williamson; Jac Nickoloff; Suk-Hee Lee; Robert Hromas
Journal:  Genetica       Date:  2010-03-23       Impact factor: 1.082

8.  Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry.

Authors:  Inês Sousa; Taane G Clark; Richard Holt; Alistair T Pagnamenta; Erik J Mulder; Ruud B Minderaa; Anthony J Bailey; Agatino Battaglia; Sabine M Klauck; Fritz Poustka; Anthony P Monaco
Journal:  Mol Autism       Date:  2010-03-25       Impact factor: 7.509

9.  Rescue of Learning and Memory Deficits in the Human Nonsyndromic Intellectual Disability Cereblon Knock-Out Mouse Model by Targeting the AMP-Activated Protein Kinase-mTORC1 Translational Pathway.

Authors:  Charlotte C Bavley; Richard C Rice; Delaney K Fischer; Amanda K Fakira; Maureen Byrne; Maria Kosovsky; Bryant K Rizzo; Dolores Del Prete; Armin Alaedini; Jose A Morón; Joseph J Higgins; Luciano D'Adamio; Anjali M Rajadhyaksha
Journal:  J Neurosci       Date:  2018-02-19       Impact factor: 6.167

10.  Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay.

Authors:  Morteza Hemmat; Xiaojing Yang; Patricia Chan; Robert A McGough; Leslie Ross; Loretta W Mahon; Arturo L Anguiano; Wang T Boris; Mohamed M Elnaggar; Jia-Chi J Wang; Charles M Strom; Fatih Z Boyar
Journal:  Mol Cytogenet       Date:  2014-08-29       Impact factor: 2.009
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