(Q24294577)

GOA release 2020-03-11

T-box 1

1 reference

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

GOA release 2020-03-11

1 reference

Jason Z Stoller

1

0 references

Jonathan A Epstein

series ordinal

2

0 references

language of work or name

English

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publication date

1 April 2005

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published in

Human Molecular Genetics

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volume

14

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issue

7

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page(s)

885-92

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cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

A region of mouse chromosome 16 is syntenic to the DiGeorge, velocardiofacial syndrome minimal critical region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

The zebrafish van gogh mutation disrupts tbx1, which is involved in the DiGeorge deletion syndrome in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

A chicken model for DGCR6 as a modifier gene in the DiGeorge critical region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

HIRA, a DiGeorge syndrome candidate gene, is required for cardiac outflow tract septation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

T-targets: clues to understanding the functions of T-box proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

T-box genes in the ascidian Ciona intestinalis: characterization of cDNAs and spatial expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

Role of TBX1 in human del22q11.2 syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

Trafficking and signaling pathways of nuclear localizing protein ligands and their receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

A short amino acid sequence able to specify nuclear location

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

Two interdependent basic domains in nucleoplasmin nuclear targeting sequence: identification of a class of bipartite nuclear targeting sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

Structural basis for the specificity of bipartite nuclear localization sequence binding by importin-alpha

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

Homeodomain of yeast repressor alpha 2 contains a nuclear localization signal

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

Comparative mutagenesis of nuclear localization signals reveals the importance of neutral and acidic amino acids

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

A nuclear localization domain in the hnRNP A1 protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

Interactions between HIV Rev and nuclear import and export factors: the Rev nuclear localisation signal mediates specific binding to human importin-beta

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

Cloning and characterization of the T-box gene Tbx6 in Xenopus laevis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

TBX5 nuclear localization is mediated by dual cooperative intramolecular signals

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

Congenital heart disease in mice deficient for the DiGeorge syndrome region

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

The T protein encoded by Brachyury is a tissue-specific transcription factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081

inferred from DOI database lookup

7 January 2021

based on heuristic

Mapping of nuclear localization signals by simultaneous fusion to green fluorescent protein and to beta-galactosidase

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI081