(Q28591913)

26 June 2017

Functional characterization of rare FOXP2 variants in neurodevelopmental disorder (English)

1 reference

neurodevelopmental disorder

26 June 2017

1 reference

Sarah A Graham

2

0 references

Simon Fisher

object named as

Simon E Fisher

5

0 references

Pelagia Deriziotis

object named as

Pelagia Deriziotis

4

0 references

author name string

Sara B Estruch

1

1 reference

26 June 2017

Swathi M Chinnappa

3

1 reference

26 June 2017

language of work or name

English

0 references

publication date

28 November 2016

1 reference

Journal of Neurodevelopmental Disorders

26 June 2017

1 reference

26 June 2017

8

1 reference

26 June 2017

1

0 references

page(s)

44

1 reference

https://scigraph.springernature.com/pub.10.1186/s11689-016-9177-2

26 June 2017

0 references

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

A proteome-scale map of the human interactome network

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Humanized Foxp2 accelerates learning by enhancing transitions from declarative to procedural performance

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Expression of Foxp4 in the developing and adult rat forebrain

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

The derived FOXP2 variant of modern humans was shared with Neandertals

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Accelerated FoxP2 evolution in echolocating bats

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Structure of the forkhead domain of FOXP2 bound to DNA

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Deletion of the triplet repeat encoding polyglutamine within the mouse Huntington's disease gene results in subtle behavioral/motor phenotypes in vivo and elevated levels of ATP with cellular senescence in vitro

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Altered ultrasonic vocalization in mice with a disruption in the Foxp2 gene

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Transcriptional and DNA binding activity of the Foxp1/2/4 family is modulated by heterotypic and homotypic protein interactions

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Mutation screening of FOXP2 in individuals diagnosed with autistic disorder

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Molecular evolution of FOXP2, a gene involved in speech and language

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Overlapping and unique roles for C-terminal binding protein 1 (CtBP1) and CtBP2 during mouse development.

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

FOXP2 is not a major susceptibility gene for autism or specific language impairment

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

A forkhead-domain gene is mutated in a severe speech and language disorder

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

FOXP2 and the role of cortico-basal ganglia circuits in speech and language evolution

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

FoxP2 in song-learning birds and vocal-learning mammals

9 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Contactin‑associated protein‑like 2 expression in SH‑SY5Y cells is upregulated by a FOXP2 mutant with a shortened poly‑glutamine tract

9 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Understanding Language from a Genomic Perspective

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

C-terminal binding proteins: central players in development and disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

De novo TBR1 mutations in sporadic autism disrupt protein functions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Structure-function analysis of mouse Sry reveals dual essential roles of the C-terminal polyglutamine tract in sex determination

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Mammalian-specific sequences in pou3f2 contribute to maternal behavior

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

A genotype-first approach to defining the subtypes of a complex disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Single amino acid and trinucleotide repeats: function and evolution

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Protein interactome reveals converging molecular pathways among autism disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

FOXP2 gene and language impairment in schizophrenia: association and epigenetic studies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

The medaka FoxP2, a homologue of human language gene FOXP2, has a diverged structure and function.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Role of the PLDLS-binding cleft region of CtBP1 in recruitment of core and auxiliary components of the corepressor complex

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

CAG-encoded polyglutamine length polymorphism in the human genome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Intracellular distribution of a speech/language disorder associated FOXP2 mutant

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Role of the unique N-terminal domain of CtBP2 in determining the subcellular localisation of CtBP family proteins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Polyglutamine neurodegenerative diseases and regulation of transcription: assembling the puzzle

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Mechanisms directing the nuclear localization of the CtBP family proteins.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Absence of causative mutations and presence of autism-related allele in FOXP2 in Japanese autistic patients

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Multiple Domains Define the Expression and Regulatory Properties of Foxp1 Forkhead Transcriptional Repressors

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

FOXP2: novel exons, splice variants, and CAG repeat length stability

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Evaluation of FOXP2 as an autism susceptibility gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Investigating protein-protein interactions in live cells using bioluminescence resonance energy transfer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Humanized Foxp2 specifically affects cortico-basal ganglia circuits

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5126810

Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders.

3 June 2018

1 reference

https://api.crossref.org/works/10.1186%2FS11689-016-9177-2

Sequencing of five left-right cerebral asymmetry genes in a cohort of schizophrenia and schizotypal disorder patients from Russia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS11689-016-9177-2

Association between FOXP2 gene and speech sound disorder in Chinese population

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS11689-016-9177-2

Characterization of Foxp2 and Foxp1 mRNA and protein in the developing and mature brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS11689-016-9177-2

Molecular cloning and developmental expression of foxP2 in zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS11689-016-9177-2

Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS11689-016-9177-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS11689-016-9177-2

Sumoylation of FOXP2 Regulates Motor Function and Vocal Communication Through Purkinje Cell Development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS11689-016-9177-2

Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS11689-016-9177-2

Single Amino Acid and Trinucleotide Repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS11689-016-9177-2

10.1186/S11689-016-9177-2

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

26 June 2017

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/s11689-016-9177-2

0 references

1 reference