Functional genetic analysis of mutations implicated in a human speech and language disorder

SC Vernes, J Nicod, FM Elahi… - Human molecular …, 2006 - academic.oup.com
Mutations in the FOXP2 gene cause a severe communication disorder involving speech
deficits (developmental verbal dyspraxia), accompanied by wide-ranging impairments in …

Foxp1 regulation of neonatal vocalizations via cortical development

N Usui, DJ Araujo, A Kulkarni, J Ellegood… - Genes & …, 2017 - genesdev.cshlp.org
The molecular mechanisms driving brain development at risk in autism spectrum disorders
(ASDs) remain mostly unknown. Previous studies have implicated the transcription factor …

Birdsong decreases protein levels of FoxP2, a molecule required for human speech

JE Miller, E Spiteri, MC Condro… - Journal of …, 2008 - journals.physiology.org
Cognitive and motor deficits associated with language and speech are seen in humans
harboring FOXP2 mutations. The neural bases for FOXP2 mutation-related deficits are …

Impaired synaptic plasticity and motor learning in mice with a point mutation implicated in human speech deficits

M Groszer, DA Keays, RMJ Deacon, JP De Bono… - Current Biology, 2008 - cell.com
The most well-described example of an inherited speech and language disorder is that
observed in the multigenerational KE family, caused by a heterozygous missense mutation …

Singing mice, songbirds, and more: models for FOXP2 function and dysfunction in human speech and language

SA White, SE Fisher, DH Geschwind… - Journal of …, 2006 - Soc Neuroscience
In 2001, a point mutation in the forkhead box P2 (FOXP2) coding sequence was identified as
the basis of an inherited speech and language disorder suffered by members of the family …

Common Genetic Variants in FOXP2 Are Not Associated with Individual Differences in Language Development

KL Mueller, JC Murray, JJ Michaelson… - PLoS …, 2016 - journals.plos.org
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 …

Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder

E Sollis, SA Graham, A Vino, H Froehlich… - Human molecular …, 2016 - academic.oup.com
De novo disruptions of the neural transcription factor FOXP1 are a recently discovered, rare
cause of sporadic intellectual disability (ID). We report three new cases of FOXP1-related …

Cortical Foxp2 Supports Behavioral Flexibility and Developmental Dopamine D1 Receptor Expression

M Co, SL Hickey, A Kulkarni, M Harper… - Cerebral …, 2020 - academic.oup.com
Genetic studies have associated FOXP2 variation with speech and language disorders and
other neurodevelopmental disorders (NDDs) involving pathology of the cortex. In this brain …

FOXP transcription factors in vertebrate brain development, function, and disorders

M Co, AG Anderson, G Konopka - Wiley Interdisciplinary …, 2020 - Wiley Online Library
FOXP transcription factors are an evolutionarily ancient protein subfamily coordinating the
development of several organ systems in the vertebrate body. Association of their genes …

De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment

FF Hamdan, H Daoud, D Rochefort, A Piton… - The American Journal of …, 2010 - cell.com
Heterozygous mutations in FOXP2, which encodes a forkhead transcription factor, have
been shown to cause developmental verbal dyspraxia and language impairment. FOXP2 …