(Q64900897)

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A novel heterozygous deletion frameshift mutation of GATA3 in a Japanese kindred with the hypoparathyroidism, deafness and renal dysplasia syndrome.

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Europe PubMed Central

PubMed publication ID

30 June 2019

http://europepmc.org/abstract/MED/17114920

A novel heterozygous deletion frameshift mutation of GATA3 in a Japanese kindred with the hypoparathyroidism, deafness and renal dysplasia syndrome. (English)

1 reference

Europe PubMed Central

PubMed publication ID

30 June 2019

http://europepmc.org/abstract/MED/17114920

Renal dysplasia

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inferred from title

hypoparathyroidism

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based on heuristic

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Hajime Yoshimura

4

1 reference

Europe PubMed Central

PubMed publication ID

30 June 2019

http://europepmc.org/abstract/MED/17114920

author name string

H Kobayashi

1

1 reference

Europe PubMed Central

PubMed publication ID

30 June 2019

http://europepmc.org/abstract/MED/17114920

M Kasahara

2

1 reference

Europe PubMed Central

PubMed publication ID

30 June 2019

http://europepmc.org/abstract/MED/17114920

M Hino

3

1 reference

Europe PubMed Central

PubMed publication ID

30 June 2019

http://europepmc.org/abstract/MED/17114920

S Takahara

5

1 reference

Europe PubMed Central

PubMed publication ID

30 June 2019

http://europepmc.org/abstract/MED/17114920

K Ikeda

6

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Europe PubMed Central

PubMed publication ID

30 June 2019

http://europepmc.org/abstract/MED/17114920

C Son

7

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Europe PubMed Central

PubMed publication ID

30 June 2019

http://europepmc.org/abstract/MED/17114920

T Iwakura

8

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Europe PubMed Central

PubMed publication ID

30 June 2019

http://europepmc.org/abstract/MED/17114920

A Yoshimoto

9

1 reference

Europe PubMed Central

PubMed publication ID

30 June 2019

http://europepmc.org/abstract/MED/17114920

T Ishihara

10

1 reference

Europe PubMed Central

PubMed publication ID

30 June 2019

http://europepmc.org/abstract/MED/17114920

Y Ogawa

11

1 reference

Europe PubMed Central

PubMed publication ID

30 June 2019

http://europepmc.org/abstract/MED/17114920

publication date

1 October 2006

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Europe PubMed Central

PubMed publication ID

30 June 2019

http://europepmc.org/abstract/MED/17114920

Journal of Endocrinological Investigation

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Europe PubMed Central

PubMed publication ID

30 June 2019

http://europepmc.org/abstract/MED/17114920

29

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Europe PubMed Central

PubMed publication ID

30 June 2019

http://europepmc.org/abstract/MED/17114920

9

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Europe PubMed Central

PubMed publication ID

30 June 2019

http://europepmc.org/abstract/MED/17114920

851-853

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Europe PubMed Central

PubMed publication ID

30 June 2019

http://europepmc.org/abstract/MED/17114920

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17114920

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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https://pubmed.ncbi.nlm.nih.gov/17114920

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GATA3 abnormalities and the phenotypic spectrum of HDR syndrome

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https://pubmed.ncbi.nlm.nih.gov/17114920

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17114920

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17114920

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GATA3 haplo-insufficiency causes human HDR syndrome

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https://pubmed.ncbi.nlm.nih.gov/17114920

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17114920

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17114920

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The GATA-3 gene is expressed during human kidney embryogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/17114920

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17114920

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Embryonic expression of the human GATA-3 gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17114920

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a novel insertion mutation in GATA3 with HDR syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17114920

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal Dominant Familial Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17114920

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF03347383

1 reference

Europe PubMed Central

PubMed publication ID

30 June 2019

http://europepmc.org/abstract/MED/17114920

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 June 2019

http://europepmc.org/abstract/MED/17114920

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