Varaico: Literature-Extracted Genetic Variants

Gene:FOXP2
Variant:p.R553H
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FOXP2

NM_014491.4:p.R553H

Associated Papers

Tracing the molecular evolution of Foxp2 proteins in vertebrates from fish to tetrapods: Insights into poly-Q tract variation, structural changes, and interaction networks.

Köseoğlu AE et al.

Computational Biology and Chemistry, 2026

Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.

King J et al.

Cell Reports, 2025

41124077 (PubMed )
Supplement: NIHMS2125804-supplement-2.xlsx › TableS1B

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

Adnan Hassan R et al.

Frontiers in Bioscience (scholar Edition), 2025

Meta-analysis reveals transcription factors and DNA binding domain variants associated with congenital heart defect and orofacial cleft.

Jeong R et al.

Npj Genomic Medicine, 2025

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

Saad S et al.

Cell, 2025

Meta-analysis reveals transcription factors and DNA binding domain variants associated with congenital heart defect and orofacial cleft.

Jeong R et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Speech- and language-linked FOXP2 mutation targets protein motors in striatal neurons.

Kuo HY et al.

Brain : a Journal of Neurology, 2023

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

Telomere dysfunction implicates POT1 in patients with idiopathic pulmonary fibrosis.

Kelich J et al.

The Journal of Experimental Medicine, 2022

A comprehensive in silico analysis of the deleterious nonsynonymous SNPs of human FOXP2 protein.

Akter M et al.

Plos One, 2022

Molecular networks of the FOXP2 transcription factor in the brain.

den Hoed J et al.

Embo Reports, 2021

Case Report: Expressive Speech Disorder in a Family as a Hallmark of 7q31 Deletion Involving the FOXP2 Gene.

Nagy O et al.

Frontiers in Pediatrics, 2021

An Etiological Foxp2 Mutation Impairs Neuronal Gain in Layer VI Cortico-Thalamic Cells through Increased GABAB/GIRK Signaling.

Druart M et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2020

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

Co M et al.

Wiley Interdisciplinary Reviews. Developmental Biology, 2020

Pathogenic missense mutation pattern of forkhead box genes in neurodevelopmental disorders.

Han L et al.

Molecular Genetics & Genomic Medicine, 2019

Dissecting FOXP2 Oligomerization and DNA Binding.

Häußermann K et al.

Angewandte Chemie (international Ed. in English), 2019

Chromatin Decondensation by FOXP2 Promotes Human Neuron Maturation and Expression of Neurodevelopmental Disease Genes.

Hickey SL et al.

Cell Reports, 2019

Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.

Del-Toro N et al.

Nature Communications, 2019

30602777 (PubMed )
Supplement: 41467_2018_7709_MOESM6_ESM.xlsx › Supplementary_data_3

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

Estruch SB et al.

Human Molecular Genetics, 2018

Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders.

Sollis E et al.

Human Mutation, 2017

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

The FOXP2-Driven Network in Developmental Disorders and Neurodegeneration.

Oswald F et al.

Frontiers in Cellular Neuroscience, 2017

Foxp2 controls synaptic wiring of corticostriatal circuits and vocal communication by opposing Mef2c.

Chen YC et al.

Nature Neuroscience, 2016

The language-related transcription factor FOXP2 is post-translationally modified with small ubiquitin-like modifiers.

Estruch SB et al.

Scientific Reports, 2016

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

Sollis E et al.

Human Molecular Genetics, 2016

The Key Regulator for Language and Speech Development, FOXP2, is a Novel Substrate for SUMOylation.

Meredith LJ et al.

Journal of Cellular Biochemistry, 2016

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

Mueller KL et al.

Plos One, 2016

A Foxp2 Mutation Implicated in Human Speech Deficits Alters Sequencing of Ultrasonic Vocalizations in Adult Male Mice.

Chabout J et al.

Frontiers in Behavioral Neuroscience, 2016

Functional characterization of rare FOXP2 variants in neurodevelopmental disorder.

Estruch SB et al.

Journal of Neurodevelopmental Disorders, 2016

Genomic approaches to studying human-specific developmental traits.

Franchini LF et al.

Development (cambridge, England), 2015

FOXM1 binds directly to non-consensus sequences in the human genome.

Sanders DA et al.

Genome Biology, 2015

A Single Amino Acid in the Hinge Loop Region of the FOXP Forkhead Domain is Significant for Dimerisation.

Perumal K et al.

The Protein Journal, 2015

Genetic changes shaping the human brain.

Bae BI et al.

Developmental Cell, 2015

Retinoic Acid Signaling: A New Piece in the Spoken Language Puzzle.

van Rhijn JR et al.

Frontiers in Psychology, 2015

Interaction between MAOA and FOXP2 in association with autism and verbal communication in a Korean population.

Park Y et al.

Journal of Child Neurology, 2014

Multiple microRNAs regulate human FOXP2 gene expression by targeting sequences in its 3' untranslated region.

Fu L et al.

Molecular Brain, 2014

De novo TBR1 mutations in sporadic autism disrupt protein functions.

Deriziotis P et al.

Nature Communications, 2014

Specific expression of FOXP2 in cerebellum improves ultrasonic vocalization in heterozygous but not in homozygous Foxp2 (R552H) knock-in pups.

Fujita-Jimbo E et al.

Neuroscience Letters, 2014

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

Hoogman M et al.

Frontiers in Human Neuroscience, 2014

miR-9 and miR-140-5p target FoxP2 and are regulated as a function of the social context of singing behavior in zebra finches.

Shi Z et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2013

Microfluidic affinity and ChIP-seq analyses converge on a conserved FOXP2-binding motif in chimp and human, which enables the detection of evolutionarily novel targets.

Nelson CS et al.

Nucleic Acids Research, 2013

Neurogenomics of speech and language disorders: the road ahead.

Deriziotis P et al.

Genome Biology, 2013

FoxP2 is significantly associated with schizophrenia and major depression in the Chinese Han population.

Li T et al.

The World Journal of Biological Psychiatry : the Official Journal of the World Federation of Societies of Biological Psychiatry, 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

FoxP2 regulates neurogenesis during embryonic cortical development.

Tsui D et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2013

The DISC1 promoter: characterization and regulation by FOXP2.

Walker RM et al.

Human Molecular Genetics, 2012

Temporal expression and mitochondrial localization of a Foxp2 isoform lacking the forkhead domain in developing Purkinje cells.

Tanabe Y et al.

Journal of Neurochemistry, 2012

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