نتایج جستجو برای: foxp2

تعداد نتایج: 433  

Journal: :Journal of speech, language, and hearing research : JSLHR 2009
J Bruce Tomblin Marlea O'Brien Lawrence D Shriberg Charles Williams Jeff Murray Shivanand Patil Jonathan Bjork Steve Anderson Kirrie Ballard

PURPOSE The aims of this study were (a) to locate the breakpoints of a balanced translocation (7;13) within a mother (B) and daughter (T); (b) to describe the language and cognitive skills of B and T; and (c) to compare this profile with affected family members of the KE family who have a mutation within FOXP2. METHOD The breakpoint locations for T and B were identified by use of fluorescent ...

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Journal: :Biochemical Society transactions 2009
Sonja C Vernes Simon E Fisher

Childhood syndromes disturbing language development are common and display high degrees of heritability. In most cases, the underlying genetic architecture is likely to be complex, involving multiple chromosomal loci and substantial heterogeneity, which makes it difficult to track down the crucial genomic risk factors. Investigation of rare Mendelian phenotypes offers a complementary route for ...

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Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2012
Philippe Pinel Fabien Fauchereau Antonio Moreno Alexis Barbot Mark Lathrop Diana Zelenika Denis Le Bihan Jean-Baptiste Poline Thomas Bourgeron Stanislas Dehaene

Recent advances have been made in the genetics of two human communication skills: speaking and reading. Mutations of the FOXP2 gene cause a severe form of language impairment and orofacial dyspraxia, while single-nucleotide polymorphisms (SNPs) located within a KIAA0319/TTRAP/THEM2 gene cluster and affecting the KIAA0319 gene expression are associated with reading disability. Neuroimaging studi...

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Journal: :Psychiatric genetics 2013
Claudio Toma Amaia Hervás Bàrbara Torrico Noemí Balmaña Marta Salgado Marta Maristany Elisabet Vilella Rafael Martínez-Leal Ma Inmaculada Planelles Ivon Cuscó Miguel del Campo Luis A Pérez-Jurado Rafaela Caballero-Andaluz Yolanda de Diego-Otero Lucía Pérez-Costillas Josep A Ramos-Quiroga Marta Ribasés Mònica Bayés Bru Cormand

Impairment of language abilities is a common feature in autistic individuals. Heterozygous mutations in the Forkhead Box P2 (FOXP2) gene lead to a severe spoken language disorder. Recently, several studies have pinpointed the involvement of common variants of the Contactin-Associated Protein-Like 2 (CNTNAP2) gene, whose transcription is regulated by the product of FOXP2, in several disorders ch...

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2016
Kathryn L. Mueller Jeffrey C. Murray Jacob J. Michaelson Morten H. Christiansen Sheena Reilly J. Bruce Tomblin

Much of our current knowledge regarding the association of FOXP2 with speech and language development comes from singleton and small family studies where a small number of rare variants have been identified. However, neither genome-wide nor gene-specific studies have provided evidence that common polymorphisms in the gene contribute to individual differences in language development in the gener...

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2010
Julie E. Miller Austin T. Hilliard Stephanie A. White

BACKGROUND Trial by trial variability during motor learning is a feature encoded by the basal ganglia of both humans and songbirds, and is important for reinforcement of optimal motor patterns, including those that produce speech and birdsong. Given the many parallels between these behaviors, songbirds provide a useful model to investigate neural mechanisms underlying vocal learning. In juvenil...

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Journal: :Current Biology 2007
Johannes Krause Carles Lalueza-Fox Ludovic Orlando Wolfgang Enard Richard E. Green Hernán A. Burbano Jean-Jacques Hublin Catherine Hänni Javier Fortea Marco de la Rasilla Jaume Bertranpetit Antonio Rosas Svante Pääbo

Although many animals communicate vocally, no extant creature rivals modern humans in language ability. Therefore, knowing when and under what evolutionary pressures our capacity for language evolved is of great interest. Here, we find that our closest extinct relatives, the Neandertals, share with modern humans two evolutionary changes in FOXP2, a gene that has been implicated in the developme...

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Journal: :Current opinion in pediatrics 2002
Dianne F Newbury Anthony P Monaco

In 2001, scientists characterized the first gene to be implicated in the cause of a speech and language disorder (FOXP2). Although FOXP2 was discovered using a unique family in which a severe speech and language disorder segregates in a monogenic fashion, at the time this discovery was heralded as "a milestone in understanding this uniquely human characteristic." Approximately 1 year later, we ...

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Journal: :Trends in cognitive sciences 2003
Gary F. Marcus Simon E. Fisher

The human capacity for acquiring speech and language must derive, at least in part, from the genome. In 2001, a study described the first case of a gene, FOXP2, which is thought to be implicated in our ability to acquire spoken language. In the present article, we discuss how this gene was discovered, what it might do, how it relates to other genes, and what it could tell us about the nature of...

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2014
Antonio Benítez-Burraco Cedric Boeckx

Devanna et al. (2014) have demonstrated that FOXP2 mimics, and actually potentiates, retinoic acid (RA) induction of genes involved in neural differentiation. At the physiological level this effect results in an increase of neurite outgrowth and branching, and in a reduction of neuronal migration. The authors highlight the importance of RA signaling for brain growth and differentiation, and the...

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