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Specialty: Genetics & Stem Cells

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Total 60 results found since Jan 2013.

Association analysis of dyslexia candidate genes in a Dutch longitudinal sample
on E Fisher
Source: European Journal of Human Genetics - January 10, 2017 Category: Genetics & Stem Cells Authors: Amaia Carrion-Castillo Ben Maassen Barbara Franke Angelien Heister Marlies Naber Aryan van der Leij Clyde Francks Simon E Fisher Source Type: research

Advances in Dyslexia Genetics-New Insights Into the Role of Brain Asymmetries.
Abstract Dyslexia is a common condition affecting up to 10% school-aged children. There is strong evidence that genetics plays an important role in dyslexia and is expected to be complex in nature. Few specific susceptibility factors have been identified so far, but their functional characterization has provided novel insights into the biology of dyslexia. In particular, they point to an unexpected role of candidate genes for dyslexia in the biology of cilia, cellular organelles required in many processes including the establishment of left-right asymmetries early in development. This observation has brought back ...
Source: Advances in Genetics - December 15, 2016 Category: Genetics & Stem Cells Authors: Paracchini S, Diaz R, Stein J Tags: Adv Genet Source Type: research

The handedness-associated PCSK6 locus spans an intronic promoter regulating novel transcripts
We recently reported the association of the PCSK6 gene with handedness through a quantitative genome-wide association study (GWAS; P < 0.5 x 10–8) for a relative hand skill measure in individuals with dyslexia. PCSK6 activates Nodal, a morphogen involved in regulating left–right body axis determination. Therefore, the GWAS data suggest that the biology underlying the patterning of structural asymmetries may also contribute to behavioural laterality, e.g. handedness. The association is further supported by an independent study reporting a variable number tandem repeat (VNTR) within the same PCSK6 locus to be ...
Source: Human Molecular Genetics - July 4, 2016 Category: Genetics & Stem Cells Authors: Shore, R., Covill, L., Pettigrew, K. A., Brandler, W. M., Diaz, R., Xu, Y., Tello, J. A., Talcott, J. B., Newbury, D. F., Stein, J., Monaco, A. P., Paracchini, S. Tags: Articles Source Type: research

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis
This article is protected by copyright. All rights reserved
Source: Human Mutation - June 19, 2016 Category: Genetics & Stem Cells Authors: Muriel Girard, Albane A. Bizet, Alain Lachaux, Emmanuel Gonzales, Emilie Filhol, Sophie Collardeau‐Frachon, Cécile Jeanpierre, Charline Henry, Monique Fabre, Loic Viremouneix, Louise Galmiche, Dominique Debray, Christine Bole‐Feysot, Patrick Nitschke Tags: Brief Report Source Type: research

Genetic variant in DIP2A gene is associated with developmental dyslexia in Chinese population
In conclusion, this study showed that a genetic variant in the DIP2A gene was associated with increased DD risk in China. © 2015 Wiley Periodicals, Inc.
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - October 9, 2015 Category: Genetics & Stem Cells Authors: Rui Kong, Shanshan Shao, Jia Wang, Xiaohui Zhang, Shengnan Guo, Li Zou, Rong Zhong, Jiao Lou, Jie Zhou, Jiajia Zhang, Ranran Song Tags: Research Article Source Type: research

Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family
Abstract Developmental dyslexia is the most common learning disorder in children. Problems in reading and writing are likely due to a complex interaction of genetic and environmental factors, resulting in reduced power of studies of the genetic factors underlying developmental dyslexia. Our approach in the current study was to perform exome sequencing of affected and unaffected individuals within an extended pedigree with a familial form of developmental dyslexia. We identified a two-base mutation, causing a p.R229L amino acid substitution in the centrosomal protein 63 kDa (CEP63), co-segregating with development...
Source: Human Genetics - September 23, 2015 Category: Genetics & Stem Cells Source Type: research

High acceptance of an early dyslexia screening test involving genetic analyses in Germany
nnes Boltze & MEMBERS OF THE LEGASCREEN CONSORTIUM
Source: European Journal of Human Genetics - June 3, 2015 Category: Genetics & Stem Cells Authors: Arndt WilckeBent MüllerGesa SchaadtHolger KirstenJohannes Boltze Source Type: research

An assessment of gene-by-gene interactions as a tool to unfold missing heritability in dyslexia
Abstract Even if substantial heritability has been reported and candidate genes have been identified extensively, all known marker associations explain only a small proportion of the phenotypic variance of developmental dyslexia (DD) and related quantitative phenotypes. Gene-by-gene interaction (also known as “epistasis”—G × G) triggers a non-additive effect of genes at different loci and should be taken into account in explaining part of the missing heritability of this complex trait. We assessed potential G × G interactions among five DD candidate genes, i.e., DYX1C1, DCDC2, KIAA0319, ROBO1, and GRIN...
Source: Human Genetics - April 27, 2015 Category: Genetics & Stem Cells Source Type: research

Lack of replication for the myosin‐18B association with mathematical ability in independent cohorts
ABSTRACT Twin studies indicate that dyscalculia (or mathematical disability) is caused partly by a genetic component, which is yet to be understood at the molecular level. Recently, a coding variant (rs133885) in the myosin‐18B gene was shown to be associated with mathematical abilities with a specific effect among children with dyslexia. This association represents one of the most significant genetic associations reported to date for mathematical abilities and the only one reaching genome‐wide statistical significance. We conducted a replication study in different cohorts to assess the effect of rs133885 maths‐relat...
Source: Genes, Brain and Behavior - March 16, 2015 Category: Genetics & Stem Cells Authors: Kerry A. Pettigrew, Samuelle F. Fajutrao Valles, Kristina Moll, Kate Northstone, Susan Ring, Craig Pennell, Carol Wang, Ruth Leavett, Marianna E. Hayiou‐Thomas, Paul Thompson, Nuala H. Simpson, Simon E. Fisher, , Andrew J.O. Whitehouse, Margaret J. Snow Tags: Original Article Source Type: research

Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population
Conclusion: Our results revealed that the stuttering risk genes GNPTAB and NAGPA might also associate with developmental dyslexia in the Chinese population.
Source: BMC Genetics - February 3, 2015 Category: Genetics & Stem Cells Authors: Huan ChenJunquan XuYuxi ZhouYong GaoGuoqing WangJiguang XiaMichael HuenWai SiokYuyang JiangLi TanYimin Sun Source Type: research

CTNND2--a candidate gene for reading problems and mild intellectual disability
Conclusions Taken together, our human genetic and in vivo data suggest that defective migration of subpopulations of neuronal cells due to haploinsufficiency of CTNND2 contribute to the cognitive dysfunction in our patients.
Source: Journal of Medical Genetics - January 19, 2015 Category: Genetics & Stem Cells Authors: Hofmeister, W., Nilsson, D., Topa, A., Anderlid, B.-M., Darki, F., Matsson, H., Tapia Paez, I., Klingberg, T., Samuelsson, L., Wirta, V., Vezzi, F., Kere, J., Nordenskjold, M., Syk Lundberg, E., Lindstrand, A. Tags: Clinical genetics, Genetic screening / counselling, Molecular genetics, Reproductive medicine Chromosomal rearrangements Source Type: research

GRIN2B mediates susceptibility to intelligence quotient and cognitive impairments in developmental dyslexia
Conclusion: Our results add further evidence in support of GRIN2B contributing toward DD and deficits in DD. More specifically, our data support the view that GRIN2B influences DD as a categorical trait and its related quantitative phenotypes, thus shedding further light on the etiologic basis and the phenotypic complexity of this disorder.
Source: Psychiatric Genetics - January 6, 2015 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

The DYX2 locus and neurochemical signaling genes contribute to speech sound disorder and related neurocognitive domains
Abstract A major milestone of child development is the acquisition and use of speech and language. Communication disorders, including speech sound disorder (SSD), can impair a child's academic, social, and behavioral development. SSD is a complex, polygenic trait with a substantial genetic component. However, specific genes that contribute to SSD remain largely unknown. To identify associated genes, we assessed the association of the DYX2 dyslexia risk locus and markers in neurochemical signaling genes (e.g., nicotinic and dopaminergic) with SSD and related endophenotypes. We first performed separate primary associations i...
Source: Genes, Brain and Behavior - January 1, 2015 Category: Genetics & Stem Cells Authors: John D. Eicher, Catherine M. Stein, Fenghua Deng, Allison Avrich Ciesla, Natalie R. Powers, Richard Boada, Shelley D. Smith, Bruce F. Pennington, Sudha K. Iyengar, Barbara A. Lewis, Jeffrey R. Gruen Tags: Original Article Source Type: research

Association study of developmental dyslexia candidate genes DCDC2 and KIAA0319 in Chinese population
Developmental dyslexia (DD) is characterized by difficulties in reading and spelling independent of intelligence, educational backgrounds and neurological injuries. Increasing evidences supported DD as a complex genetic disorder and identified four DD candidate genes namely DYX1C1, DCDC2, KIAA0319 and ROBO1. As such, DCDC2 and KIAA0319 are located in DYX2, one of the most studied DD susceptibility loci. However, association of these two genes with DD was inconclusive across different populations. Given the linguistic and genetic differences between Chinese and other populations, it is worthwhile to investigate association ...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - September 17, 2014 Category: Genetics & Stem Cells Authors: Yimin Sun, Yong Gao, Yuxi Zhou, Huan Chen, Guoqing Wang, Junquan Xu, Jiguang Xia, Michael S.Y. Huen, Wai Ting Siok, Yuyang Jiang, Li Hai Tan Tags: Research Article Source Type: research

Family based genome‐wide copy number scan identifies complex rearrangements at 17q21.31 in dyslexics
Abstract Developmental dyslexia (DD) is a complex heritable disorder with unexpected difficulty in learning to read and spell despite adequate intelligence, education, environment, and normal senses. We performed genome‐wide screening for copy number variations (CNVs) in 10 large Indian dyslexic families using Affymetrix Genome‐Wide Human SNP Array 6.0. Results revealed the complex genomic rearrangements due to one non‐contiguous deletion and five contiguous micro duplications and micro deletions at 17q21.31 region in three dyslexic families. CNVs in this region harbor the genes KIAA1267, LRRC37A, ARL17A/B, NSFP1, an...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - August 19, 2014 Category: Genetics & Stem Cells Authors: Avinash M. Veerappa, Marita Saldanha, Prakash Padakannaya, Nallur B. Ramachandra Tags: Research Article Source Type: research