Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome (Q44777473)

6 December 2017

Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome (English)

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6 December 2017

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15

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6 December 2017

9

Ian Holdaway

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6 December 2017

M Andrew Nesbit

1

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6 December 2017

Michael R Bowl

2

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6 December 2017

Brian Harding

3

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6 December 2017

Asif Ali

4

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6 December 2017

Alejandro Ayala

5

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6 December 2017

Carol Crowe

6

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6 December 2017

Angus Dobbie

7

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6 December 2017

Geeta Hampson

8

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6 December 2017

Robert McWilliams

11

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6 December 2017

Susan Rigden

12

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6 December 2017

Julian Sampson

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6 December 2017

Andrew J Williams

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6 December 2017

language of work or name

English

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publication date

24 February 2004

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Journal of Biological Chemistry

6 December 2017

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6 December 2017

279

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6 December 2017

22624-22634

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6 December 2017

21

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Targeted disruption of the GATA3 gene causes severe abnormalities in the nervous system and in fetal liver haematopoiesis

6 December 2017

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

GATA4 transcription factor is required for ventral morphogenesis and heart tube formation

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

FOG, a multitype zinc finger protein, acts as a cofactor for transcription factor GATA-1 in erythroid and megakaryocytic differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401797200

FOG-2: A novel GATA-family cofactor related to multitype zinc-finger proteins Friend of GATA-1 and U-shaped

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

Molecular cloning of FOG-2: a modulator of transcription factor GATA-4 in cardiomyocytes

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

Transcriptional activity of pannier is regulated negatively by heterodimerization of the GATA DNA-binding domain with a cofactor encoded by the u-shaped gene of Drosophila

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

The multitype zinc-finger protein U-shaped functions in heart cell specification in the Drosophila embryo

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

The zinc finger-containing transcription factors GATA-4, -5, and -6. Ubiquitously expressed regulators of tissue-specific gene expression.

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

Embryonic expression of the human GATA-3 gene.

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

GATA3 haplo-insufficiency causes human HDR syndrome

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

Partial DiGeorge syndrome in two patients with a 10p rearrangement.

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13).

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401797200

Recurrent cerebral infarctions and del(10)(p14p15.1) de novo in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

GATA3 abnormalities and the phenotypic spectrum of HDR syndrome

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

Association of parathyroid tumors in multiple endocrine neoplasia type 1 with loss of alleles on chromosome 11.

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

A common molecular basis for three inherited kidney stone diseases

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

Krüppel-like zinc fingers bind to nuclear import proteins and are required for efficient nuclear localization of erythroid Krüppel-like factor

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

The two-hybrid system: a method to identify and clone genes for proteins that interact with a protein of interest

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

Studies on the transformation of intact yeast cells by the LiAc/SS-DNA/PEG procedure

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

Single-step purification of polypeptides expressed in Escherichia coli as fusions with glutathione S-transferase

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

Key residues characteristic of GATA N-fingers are recognized by FOG.

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

X-linked thrombocytopenia caused by a novel mutation of GATA-1

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401797200

X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

Human GATA-3 trans-activation, DNA-binding, and nuclear localization activities are organized into distinct structural domains

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

Transcriptional cofactors of the FOG family interact with GATA proteins by means of multiple zinc fingers

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401797200

A small single-"finger" peptide from the erythroid transcription factor GATA-1 binds specifically to DNA as a zinc or iron complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401797200

The N-terminal fingers of chicken GATA-2 and GATA-3 are independent sequence-specific DNA binding domains

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

A palindromic regulatory site within vertebrate GATA-1 promoters requires both zinc fingers of the GATA-1 DNA-binding domain for high-affinity interaction

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

p300 Functions as a coactivator of transcription factor GATA-4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401797200

The cardiac tissue-restricted homeobox protein Csx/Nkx2.5 physically associates with the zinc finger protein GATA4 and cooperatively activates atrial natriuretic factor gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401797200

Self-association of the erythroid transcription factor GATA-1 mediated by its zinc finger domains

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

Homotypic interactions of chicken GATA-1 can mediate transcriptional activation

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

Physical and functional interaction between GATA-3 and Smad3 allows TGF-beta regulation of GATA target genes

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

Functional synergy and physical interactions of the erythroid transcription factor GATA-1 with the Krüppel family proteins Sp1 and EKLF.

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

Association of erythroid transcription factors: complexes involving the LIM protein RBTN2 and the zinc-finger protein GATA1

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

Regulation of aquaporin-2 gene transcription by GATA-3. off

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

Dynamic regulation of Smad expression during mesenchyme to epithelium transition in the metanephric kidney

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

Sp1 is a critical regulator of the Wilms' tumor-1 gene

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

Sp3/Sp1 in the parathyroid gland: identification of an Sp1 deoxyribonucleic acid element in the parathyroid hormone promoter.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401797200

Knock-in mutation of transcription factor GATA-3 into the GATA-1 locus: partial rescue of GATA-1 loss of function in erythroid cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401797200

Arrested development of embryonic red cell precursors in mouse embryos lacking transcription factor GATA-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401797200

A catalogue of splice junction sequences

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

SpliceDB: database of canonical and non-canonical mammalian splice sites

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M401797200

Amino terminus of the yeast GAL4 gene product is sufficient for nuclear localization

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401797200

Autosomal Dominant Familial Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M401797200

21 January 2018

Identifiers

DOI

10.1074/JBC.M401797200

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6 December 2017

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