Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children. (Q50421966)

13 March 2018

title

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children. (English)

1 reference

13 March 2018

Anne Jorgensen

3

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Ewa Rajpert-De Meyts

16

Ewa Rajpert-De Meyts

1 reference

13 March 2018

John C Achermann

17

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Jean-Pierre Siffroi

5

Jean-Pierre Siffroi

1 reference

13 March 2018

Kenneth McElreavey

18

Ken McElreavey

1 reference

13 March 2018

Anu Bashamboo

1

Anu Bashamboo

1 reference

13 March 2018

Joelle Bignon-Topalovic

4

Joelle Bignon-Topalovic

1 reference

13 March 2018

Caroline Eozenou

2

Caroline Eozenou

1 reference

13 March 2018

author name string

Capucine Hyon

6

1 reference

13 March 2018

Attila Tar

7

1 reference

13 March 2018

Péter Nagy

8

1 reference

13 March 2018

Janos Sólyom

9

1 reference

13 March 2018

Zita Halász

10

1 reference

13 March 2018

Annnabel Paye-Jaouen

11

1 reference

13 March 2018

Sophie Lambert

12

1 reference

13 March 2018

David Rodriguez-Buritica

13

1 reference

13 March 2018

Rita Bertalan

14

1 reference

13 March 2018

Laetitia Martinerie

15

1 reference

13 March 2018

language of work or name

English

0 references

publication date

16 February 2018

1 reference

13 March 2018

American Journal of Human Genetics

published in

1 reference

13 March 2018

volume

102

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13 March 2018

page(s)

487-493

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13 March 2018

issue

3

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13 March 2018

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.

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A duplication in a patient with 46,XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kb.

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2 November 2018

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A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

2 November 2018

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De novo frameshift mutation in COUP-TFII (NR2F2) in human congenital diaphragmatic hernia.

2 November 2018

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2 November 2018

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Choose your destiny: Make a cell fate decision with COUP-TFII.

2 November 2018

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Ex vivo culture of human fetal gonads: manipulation of meiosis signalling by retinoic acid treatment disrupts testis development.

2 November 2018

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Marker genes identify three somatic cell types in the fetal mouse ovary

30 November 2018

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COUP-TFs and eye development

2 November 2018

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Rare variants in NR2F2 cause congenital heart defects in humans

2 November 2018

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2 November 2018

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COUP-TFII regulates human endometrial stromal genes involved in inflammation.

2 November 2018

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Gene mutations associated with anomalies of human gonad formation

2 November 2018

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Endocardial cushion morphogenesis and coronary vessel development require chicken ovalbumin upstream promoter-transcription factor II.

2 November 2018

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COUP-TFII is essential for metanephric mesenchyme formation and kidney precursor cell survival

2 November 2018

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Proposed role for COUP-TFII in regulating fetal Leydig cell steroidogenesis, perturbation of which leads to masculinization disorders in rodents

2 November 2018

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Identification of SOX3 as an XX male sex reversal gene in mice and humans

2 November 2018

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2 November 2018

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2 November 2018

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2 November 2018

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2 November 2018

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2 November 2018

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The murine Dax-1 promoter is stimulated by SF-1 (steroidogenic factor-1) and inhibited by COUP-TF (chicken ovalbumin upstream promoter-transcription factor) via a composite nuclear receptor-regulatory element

2 November 2018

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2 November 2018

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2 November 2018

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Expression patterns of DLK1 and INSL3 identify stages of Leydig cell differentiation during normal development and in testicular pathologies, including testicular cancer and Klinefelter syndrome

2 November 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/29478779

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2018.01.021

1 reference

13 March 2018

0 references

1 reference

13 March 2018