GATA3 haplo-insufficiency causes human HDR syndrome (Q22254758)

anatomical structure morphogenesis

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

P Lichtner

Peter

Lichtner

1 reference

7 February 2023

Ian

Holdaway

I Holdaway

1 reference

7 February 2023

H Van Esch

Hilde

Van Esch

1 reference

7 February 2023

P Groenen

Peter

Groenen

1 reference

7 February 2023

M A Nesbit

M. Andrew

Nesbit

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7 February 2023

S Schuffenhauer

Simone

Schuffenhauer

1 reference

7 February 2023

G Vanderlinden

Gert

Vanderlinden

1 reference

7 February 2023

B Harding

Brian

Harding

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7 February 2023

R Beetz

Rolf

Beetz

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7 February 2023

R W Bilous

Rudolf W.

Bilous

1 reference

7 February 2023

N J Shaw

Nicholas J.

Shaw

1 reference

7 February 2023

J P Fryns

Jean-Pierre

Fryns

1 reference

7 February 2023

W Van de Ven

Wim

Van de Ven

1 reference

7 February 2023

R V Thakker

Rajesh V.

Thakker

1 reference

7 February 2023

K Devriendt

Koenraad

Devriendt

1 reference

A common region of 10p deleted in DiGeorge and velocardiofacial syndromes

7 February 2023

language of work or name

English

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publication date

27 July 2000

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published in

Nature

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volume

406

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issue

6794

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page(s)

419-22

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cites work

1 reference

Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2).

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Autosomal Dominant Familial Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

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

21 January 2018

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An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14.

21 January 2018

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Structure and expression of the human GATA3 gene

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

21 January 2018

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Embryonic expression of the human GATA-3 gene.

21 January 2018

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A Gene Map of the Human Genome

21 January 2018

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

21 January 2018

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Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired

21 January 2018

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Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

21 January 2018

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Transcription factor GATA-3 is required for development of the T-cell lineage

21 January 2018

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

21 January 2018

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The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

21 January 2018

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Single allele mutations at the heart of congenital disease

21 January 2018

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A common molecular basis for three inherited kidney stone diseases

21 January 2018

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

21 January 2018

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7 January 2021

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7 January 2021

The GATA-3 gene is expressed during human kidney embryogenesis

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7 January 2021

Expression of the transcription factor GATA-3 is required for the development of the earliest T cell progenitors and correlates with stages of cellular proliferation in the thymus

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7 January 2021

Genome maps 7. The human transcript map. Wall chart

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7 January 2021

Identifiers

DOI

10.1038/35019088

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