نتایج جستجو برای: foxp2

تعداد نتایج: 433  

2010
S Gaub M Groszer S E Fisher G Ehret

Heterozygous mutations of the human FOXP2 gene are implicated in a severe speech and language disorder. Aetiological mutations of murine Foxp2 yield abnormal synaptic plasticity and impaired motor-skill learning in mutant mice, while knockdown of the avian orthologue in songbirds interferes with auditory-guided vocal learning. Here, we investigate influences of two distinct Foxp2 point mutation...

2012
Eriko Fujita Yuko Tanabe Beat A. Imhof Mariko Y. Momoi Takashi Momoi

Foxp2(R552H) knock-in (KI) mouse pups with a mutation related to human speech-language disorders exhibit poor development of cerebellar Purkinje cells and impaired ultrasonic vocalization (USV), a communication tool for mother-offspring interactions. Thus, human speech and mouse USV appear to have a Foxp2-mediated common molecular basis in the cerebellum. Mutations in the gene encoding the syna...

Journal: :PLoS ONE 2007
Gang Li Jinhong Wang Stephen J. Rossiter Gareth Jones Shuyi Zhang

FOXP2 is a transcription factor implicated in the development and neural control of orofacial coordination, particularly with respect to vocalisation. Observations that orthologues show almost no variation across vertebrates yet differ by two amino acids between humans and chimpanzees have led to speculation that recent evolutionary changes might relate to the emergence of language. Echolocatin...

Journal: :Human molecular genetics 2006
Sonja C Vernes Jérôme Nicod Fanny M Elahi Julie A Coventry Niamh Kenny Anne-Marie Coupe Louise E Bird Kay E Davies Simon E Fisher

Mutations in the FOXP2 gene cause a severe communication disorder involving speech deficits (developmental verbal dyspraxia), accompanied by wide-ranging impairments in expressive and receptive language. The protein encoded by FOXP2 belongs to a divergent subgroup of forkhead-box transcription factors, with a distinctive DNA-binding domain and motifs that mediate hetero- and homodimerization. H...

Journal: :American journal of medical genetics. Part A 2012
Gregory M Rice Gordana Raca Kathy J Jakielski Jennifer J Laffin Christina M Iyama-Kurtycz Sigan L Hartley Rae E Sprague Anne T Heintzelman Lawrence D Shriberg

Disruptions in FOXP2, a transcription factor, are the only known monogenic cause of speech and language impairment. We report on clinical findings for two new individuals with a submicroscopic deletion of FOXP2: a boy with severe apraxia of speech and his currently moderately affected mother. A 1.57 Mb deletion on chromosome 7q31 was detected by array comparative genomic hybridization (aCGH). I...

Journal: :Trends in genetics : TIG 2009
Simon E Fisher Constance Scharff

Rare mutations of the FOXP2 transcription factor gene cause a monogenic syndrome characterized by impaired speech development and linguistic deficits. Recent genomic investigations indicate that its downstream neural targets make broader impacts on common language impairments, bridging clinically distinct disorders. Moreover, the striking conservation of both FoxP2 sequence and neural expressio...

2016
Wen-Zhuo Jia Tao Yu Qi An Hua Yang Zhu Zhang Xiao Liu Gang Xiao

OBJECTIVE To investigate how microRNA-190 (miR-190) regulates FOXP2 genes in gastric cancer (GC) cell line SGC7901. METHODS We identified that miR-190 could target FOXP2 genes by using dual luciferase enzyme assay. Precursor fragment transfection of miR-190 was performed with GC cell line SGC7901 and human gastric mucosal cell line GES-1. miR-190 expression was detected by reverse transcripti...

Journal: :Psychiatric genetics 2012
Marta Ribasés Cristina Sánchez-Mora Josep Antoni Ramos-Quiroga Rosa Bosch Núria Gómez Mariana Nogueira Montse Corrales Gloria Palomar Christian P Jacob Silke Gross-Lesch Susanne Kreiker Andreas Reif Klaus Peter Lesch Bru Cormand Miquel Casas Mónica Bayés

OBJECTIVES Attention-deficit/hyperactivity disorder (ADHD) is a common psychiatric disorder manifesting as symptoms of inattention, hyperactivity, and/or impulsivity. Learning disabilities co-occur with ADHD in 20-30% of cases and this high co-occurrence raises the possibility of a common etiological background. Forkhead box P2 (FOXP2) encodes a transcription factor involved in speech and langu...

Journal: :The Journal of comparative neurology 2009
Polly Campbell Roger L Reep Margaret L Stoll Alexander G Ophir Steven M Phelps

FOXP2, the first gene causally linked to a human language disorder, is implicated in song acquisition, production, and perception in oscine songbirds, the evolution of speech and language in hominids, and the evolution of echolocation in bats. Despite the evident relevance of Foxp2 to vertebrate acoustic communication, a comprehensive description of neural expression patterns is currently lacki...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2005
Weiguo Shu Julie Y Cho Yuhui Jiang Minhua Zhang Donald Weisz Gregory A Elder James Schmeidler Rita De Gasperi Miguel A Gama Sosa Donald Rabidou Anthony C Santucci Daniel Perl Edward Morrisey Joseph D Buxbaum

Neurobiology of speech and language has previously been studied in the KE family, in which half of the members have severe impairment in both speech and language. The gene responsible for the phenotype was mapped to chromosome 7q31 and identified as the FOXP2 gene, coding for a transcription factor containing a polyglutamine tract and a forkhead DNA-binding domain. Because of linkage studies im...

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