(Q28587462)

24 June 2017

Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome (English)

1 reference

Guanine nucleotide binding protein (G protein), beta polypeptide 1-like

24 June 2017

0 references

1 reference

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

T-box 5

1 reference

GOA release 2020-03-11

22q11 deletion syndrome

1 reference

14

1 reference

24 June 2017

Annalisa Mupo

3

0 references

Paris Ataliotis

Paris Ataliotis

4

0 references

Kieran Murphy

Kieran C Murphy

11

0 references

Beate St Pourcain

Beate Glaser

2

0 references

Peter J Scambler

Peter J Scambler

16

0 references

author name string

Richard Paylor

1

1 reference

24 June 2017

Corinne Spencer

5

1 reference

24 June 2017

Angela Sobotka

6

1 reference

24 June 2017

Chelsey Sparks

7

1 reference

24 June 2017

Chul-Hee Choi

8

1 reference

24 June 2017

John Oghalai

9

1 reference

24 June 2017

Sarah Curran

10

1 reference

24 June 2017

Stephen Monks

12

1 reference

24 June 2017

Nigel Williams

13

1 reference

24 June 2017

Elizabeth Lindsay

17

1 reference

24 June 2017

Michael J Owen

15

1 reference

24 June 2017

language of work or name

English

0 references

publication date

9 May 2006

1 reference

24 June 2017

6

1 reference

Proceedings of the National Academy of Sciences of the United States of America

inferred from page(s)

published in

1 reference

24 June 2017

103

1 reference

24 June 2017

7729-7734

1 reference

24 June 2017

20

1 reference

Theories of schizophrenia: a genetic-inflammatory-vascular synthesis

24 June 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1472513

Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1472513

Functional analysis of genetic variation in catechol-O-methyltransferase (COMT): effects on mRNA, protein, and enzyme activity in postmortem human brain

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1472513

Evidence that the gene encoding ZDHHC8 contributes to the risk of schizophrenia

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1472513

Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1472513

Role of TBX1 in human del22q11.2 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=1472513

The schizophrenia phenotype in 22q11 deletion 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=1472513

Mouse genetic models for prepulse inhibition: an early review

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1472513

Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1472513

Human studies of prepulse inhibition of startle: normal subjects, patient groups, and pharmacological studies

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1472513

DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1472513

Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects 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=1472513

TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge 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=1472513

GNB1L, a gene deleted in the critical region for DiGeorge syndrome on 22q11, encodes a G-protein beta-subunit-like polypeptide

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1472513

The gene encoding proline dehydrogenase modulates sensorimotor gating 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=1472513

Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1472513

Catechol-O-methyltransferase-deficient mice exhibit sexually dimorphic changes in catecholamine levels and behavior

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1472513

Inbred strain differences in prepulse inhibition of the mouse startle response

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1472513

Finding nuclear localization signals

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1472513

Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1472513

Lower prepulse inhibition in children with the 22q11 deletion 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=1472513

A comprehensive analysis of 22q11 gene expression in the developing and adult brain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1472513

Isolation and characterization of a novel gene containing WD40 repeats from the region deleted in velo-cardio-facial/DiGeorge syndrome on chromosome 22q11.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1472513

Neuropsychiatric disorders in the 22q11 deletion 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=1472513

22q11 deletion syndrome in adults with schizophrenia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1472513

Inhibition of Xbra transcription activation causes defects in mesodermal patterning and reveals autoregulation of Xbra in dorsal mesoderm.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1472513

High rates of schizophrenia in adults with velo-cardio-facial syndrome.

3 June 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0600206103

Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0600206103

Brain anatomy and sensorimotor gating in Asperger's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0600206103

Nested chromosomal deletions induced with retroviral vectors in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0600206103

COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0600206103

Transcriptional and behavioral interaction between 22q11.2 orthologs modulates schizophrenia-related phenotypes in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0600206103

Asperger syndrome and high-functioning autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0600206103

The Asperger Syndrome (and high-functioning autism) Diagnostic Interview (ASDI): a preliminary study of a new structured clinical interview.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0600206103

Reflections on opening Pandora's box.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0600206103

XTbx1 is a transcriptional activator involved in head and pharyngeal arch development in Xenopus laevis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0600206103

Schizophrenia and chromosomal deletions within 22q11.2.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1472513

Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region

27 November 2018

1 reference

12 December 2020

Genetic dissection of the DiGeorge syndrome phenotype

1 reference

12 December 2020

Late‐Onset psychosis in the velo‐cardio‐facial syndrome

1 reference

12 December 2020

Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.

1 reference

12 December 2020

Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis

1 reference

12 December 2020

Congenital heart disease in mice deficient for the DiGeorge syndrome region

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0600206103

1 reference

OpenCitations bibliographic resource ID

24 June 2017

0 references

4835182

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference