Varaico: Literature-Extracted Genetic Variants

Gene:FOXP2
Variant:p.R328*
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FOXP2

NM_014491.4:p.R328*

Associated Papers

Genomic Insights Into Developmental Language Disorders: Biomarkers and Their Interactions.

Adnan Hassan R et al.

Frontiers in Bioscience (scholar Edition), 2025

DNA binding and mitotic phosphorylation protect polyglutamine proteins from assembly formation.

Saad S et al.

Cell, 2025

Novel FOXP2 variant associated with speech and language dysfunction in a Chinese family and literature review.

Che F et al.

Journal of Applied Genetics, 2024

In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2.

Morison LD et al.

Journal of Medical Genetics, 2023

Increased locomotor activity via regulation of GABAergic signalling in foxp2 mutant zebrafish-implications for neurodevelopmental disorders.

Lüffe TM et al.

Translational Psychiatry, 2021

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

Co M et al.

Wiley Interdisciplinary Reviews. Developmental Biology, 2020

Proteomic analysis of FOXP proteins reveals interactions between cortical transcription factors associated with neurodevelopmental disorders.

Estruch SB et al.

Human Molecular Genetics, 2018

FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum.

Reuter MS et al.

Journal of Medical Genetics, 2017

Functional characterization of rare FOXP2 variants in neurodevelopmental disorder.

Estruch SB et al.

Journal of Neurodevelopmental Disorders, 2016

De novo TBR1 mutations in sporadic autism disrupt protein functions.

Deriziotis P et al.

Nature Communications, 2014

Assessing the effects of common variation in the FOXP2 gene on human brain structure.

Hoogman M et al.

Frontiers in Human Neuroscience, 2014

Neurogenomics of speech and language disorders: the road ahead.

Deriziotis P et al.

Genome Biology, 2013

Genetic influences of resting state fMRI activity in language-related brain regions in healthy controls and schizophrenia patients: a pilot study.

Jamadar S et al.

Brain Imaging and Behavior, 2013

The DISC1 promoter: characterization and regulation by FOXP2.

Walker RM et al.

Human Molecular Genetics, 2012

Foxp2 mutations impair auditory-motor association learning.

Kurt S et al.

Plos One, 2012

Genetic influences of cortical gray matter in language-related regions in healthy controls and schizophrenia.

Jamadar S et al.

Schizophrenia Research, 2011

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

Hamdan FF et al.

American Journal of Human Genetics, 2010

Association between FOXP2 gene and speech sound disorder in Chinese population.

Zhao Y et al.

Psychiatry and Clinical Neurosciences, 2010

The structure of innate vocalizations in Foxp2-deficient mouse pups.

Gaub S et al.

Genes, Brain, and Behavior, 2010

Unravelling neurogenetic networks implicated in developmental language disorders.

Vernes SC et al.

Biochemical Society Transactions, 2009

Language features in a mother and daughter of a chromosome 7;13 translocation involving FOXP2.

Tomblin JB et al.

Journal of Speech, Language, and Hearing Research : Jslhr, 2009

Modified sound-evoked brainstem potentials in Foxp2 mutant mice.

Kurt S et al.

Brain Research, 2009

A humanized version of Foxp2 affects cortico-basal ganglia circuits in mice.

Enard W et al.

Cell, 2009

FOXP2 as a molecular window into speech and language.

Fisher SE et al.

Trends in Genetics : Tig, 2009

FOXP genes, neural development, speech and language disorders.

Takahashi H et al.

Advances in Experimental Medicine and Biology, 2009

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

Groszer M et al.

Current Biology : Cb, 2008

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

Vernes SC et al.

Human Molecular Genetics, 2006

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

White SA et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2006

Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits.

MacDermot KD et al.

American Journal of Human Genetics, 2005

[FOXP2 and the molecular biology of language: new evidence. I. Phenotypic aspects and animal models].

Benítez-Burraco A

Revista De Neurologia, 0

[FOXP2 and the molecular biology of language: new evidence. II. Molecular aspects and implications for the ontogenesis and phylogeny of language].

Benítez-Burraco A

Revista De Neurologia, 0

Recent Advances in the Genetics of Vocal Learning.

Condro MC et al.

Comparative Cognition & Behavior Reviews, 0

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