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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Hermansky-Pudlak syndrome 5 homolog

Ru2, DCDC2, HPS5
This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. Mutations in this gene have been associated with Reading Disability (RD), also referred to as developmental dyslexia. Alternatively spliced transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Sep 2010] (from NCBI)
Top mentioned proteins: DYX1C1, Robo1, doublecortin, HPS, CAN
Papers on Ru2
The regulatory element READ1 epistatically influences reading and language, with both deleterious and protective alleles.
Gruen et al., New Haven, United States. In J Med Genet, Jan 2016
We previously reported that two risk haplotypes, each in strong linkage disequilibrium (LD) with an allele of READ1, a polymorphic compound short tandem repeat within intron 2 of risk gene DCDC2, are associated with RD and LI.
Genetic variant in DIP2A gene is associated with developmental dyslexia in Chinese population.
Song et al., Wuhan, China. In Am J Med Genet B Neuropsychiatr Genet, Nov 2015
Compared with some DD candidate genes that have been extensively studied (e.g., DYX1C1, DCDC2, KIAA0319, and ROBO1), very little is known about the association between candidate gene DIP2A and DD susceptibility.
Illusory Motion Perception Is Impaired in individuals with DCDC2 Intron 2 Deletion showing the Selective Role of Magnocellular-Dorsal Stream in Dyslexia.
Marino et al., In J Vis, Oct 2015
A deletion in intron 2 of the DCDC2 gene (hereafter DCDC2d) increases the risk for DD.
Mutation of the Dyslexia-Associated Gene Dcdc2 Enhances Glutamatergic Synaptic Transmission Between Layer 4 Neurons in Mouse Neocortex.
LoTurco et al., New York City, United States. In Cereb Cortex, Sep 2015
UNASSIGNED: Variants in DCDC2 have been associated with reading disability in humans, and targeted mutation of Dcdc2 in mice causes impairments in both learning and sensory processing.
The Roles of Genes in the Neuronal Migration and Neurite Outgrowth Network in Developmental Dyslexia: Single- and Multiple-Risk Genetic Variants.
Song et al., Wuhan, China. In Mol Neurobiol, Aug 2015
The following classification and regression tree (CART) analysis revealed a prediction value of gene-gene interactions among DOCK4 rs2074130, KIAA0319 rs4504469, DCDC2 rs2274305, and KIAA0319L rs28366021 variants.
Strong motion deficits in dyslexia associated with DCDC2 gene alteration.
Morrone et al., Pisa, Italy. In J Neurosci, Jun 2015
We measured motion perception in two groups of dyslexics, with and without a deletion within the DCDC2 gene, a risk gene for dyslexia.
Gene-environment interaction on neural mechanisms of orthographic processing in Chinese children.
Shu et al., Beijing, China. In J Neurolinguistics, Feb 2015
The genetic analysis focused on two SNPs (rs1419228, rs1091047) in the gene DCDC2 based on previous findings linking these 2 SNPs to orthographic coding.
Everolimus Stabilizes Podocyte Microtubules via Enhancing TUBB2B and DCDC2 Expression.
Weber et al., Essen, Germany. In Plos One, 2014
Rescued genes included tubulin beta 2B class IIb (TUBB2B) and doublecortin domain containing 2 (DCDC2), both involved in microtubule structure formation in neuronal cells but not identified in podocytes so far.
DCDC2 genetic variants and susceptibility to developmental dyslexia.
Gruen et al., Italy. In Psychiatr Genet, 2012
DCDC2 influences both reading and memory impairments.
Association of polymorphisms in the DCDC2 gene with developmental dyslexia in the Han Chinese.
Zhao et al., Wuhan, China. In Chin Med J (engl), 2012
The DCDC2 gene may not be a susceptibility factor for developmental dyslexia among the Han Chinese.
Exploring the transcriptome of ciliated cells using in silico dissection of human tissues.
Sergeeva et al., Moscow, Russia. In Plos One, 2011
Mutations in cilia co-expressed DCDC2, DYX1C1 and KIAA0319 genes are associated with a cognitive neurological disorder, dyslexia.
Mutation of the dyslexia-associated gene Dcdc2 impairs LTM and visuo-spatial performance in mice.
Kass et al., Easton, United States. In Genes Brain Behav, 2011
heterozygous and homozygous mutations of Dcdc2 result in persistent visuo-spatial memory deficits, as well as visual discrimination and long-term memory deficits
A novel deletion mutation of mouse ruby-eye 2 named ru2(d)/Hps5(ru2-d) inhibits melanocyte differentiation and its impaired differentiation is rescued by L-tyrosine.
Soma et al., Chiba, Japan. In Zoolog Sci, 2011
These results suggest that the ru2(d) allele inhibits melanocyte differentiation, and that its impaired differentiation is rescued by excess tyrosine.
Molecular genetics and molecular biology of dyslexia.
Kere, Stockholm, Sweden. In Wiley Interdiscip Rev Cogn Sci, 2011
More importantly, the first genes, some of them found by the study of rare families, have indicated specific neurodevelopmental processes important for the development of dyslexia, including control of neuronal migration for the DYX1C1, DCDC2, and KIAA0319 genes, and a role of axonal and dendritic guidance suggested by the ROBO1 gene.
A theoretical molecular network for dyslexia: integrating available genetic findings.
Franke et al., Nijmegen, Netherlands. In Mol Psychiatry, 2011
We found that 10 of the 14 dyslexia candidate genes (ROBO1, KIAA0319, KIAA0319L, S100B, DOCK4, FMR1, DIP2A, GTF2I, DYX1C1 and DCDC2) fit into a theoretical molecular network involved in neuronal migration and neurite outgrowth.
Progress towards a cellular neurobiology of reading disability.
LoTurco et al., Easton, United States. In Neurobiol Dis, 2010
In this review we discuss recent findings that revealed neuroanatomic anomalies in RD, studies that identified 3 candidate genes (KIAA0319, DYX1C1, and DCDC2), and compelling evidence that potentially link the function of candidate genes to the neuroanatomic anomalies.
The genetics of reading disability.
Pauls et al., Boston, United States. In Curr Psychiatry Rep, 2009
Association studies of positional candidate genes have implicated DCDC2 and KIAA0319 in DYX2, as well as C2ORF3 and MRPL19 (DYX3), whereas DYX1C1/EKN1 (DYX1) and ROBO1 (DYX5) were found to be disrupted by rare translocation breakpoints in reading-disabled individuals.
The human lexinome: genes of language and reading.
Gruen et al., New Haven, United States. In J Commun Disord, 2008
Further genetic studies have identified four dyslexia genes within the DYX loci: DYX1C1 on 15q, KIAA0319 and DCDC2 on 6p22, and ROBO1 on 13q.
Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.
Swank et al., Buffalo, United States. In Nat Genet, 2003
Here we have used positional candidate and transgenic rescue approaches to identify the genes mutated in ruby-eye 2 and ruby-eye mice (ru2 and ru, respectively), two 'mimic' mouse models of HPS.
Hermansky-Pudlak Syndrome
Huizing et al., Seattle, United States. In Unknown Journal, 2000
Pathogenic variants in HPS1, AP3B1 (HPS2), HPS3, HPS4, HPS5, HPS6, DTNBP1 (HPS7), BLOC1S3 (HPS8), and BLOC1S6 (PLDN) are known to cause HPS.
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