SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management. (Q39061941)

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4 April 2020

title

SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management (English)

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1

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Martine Cools

10

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Pascal Philibert

14

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author name string

E Aubry

2

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M Cartigny

3

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A-A Rémy

4

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H Franquet

5

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X Leroy

6

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G Kéchid

7

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C Lefèvre

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R Besson

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A F Spinoit

11

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C Sultan

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S Manouvrier

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J Ghoumid

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publication date

22 February 2017

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4 April 2020

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volume

92

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page(s)

99-103

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issue

1

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Cloning and sequence analysis of the human gene encoding steroidogenic factor 1.

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cites work

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Steroidogenic Factor 1: A Key Determinant of Endocrine Development and Function

21 January 2018

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Minireview: steroidogenic factor 1: its roles in differentiation, development, and disease

21 January 2018

1 reference

Testicular differentiation factor SF-1 is required for human spleen development

21 January 2018

1 reference

Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study

21 January 2018

1 reference

Steroidogenic factor 1 messenger ribonucleic acid expression in steroidogenic and nonsteroidogenic human tissues: Northern blot and in situ hybridization studies.

21 January 2018

1 reference

Knockout mice lacking steroidogenic factor 1 are a novel genetic model of hypothalamic obesity

21 January 2018

1 reference

Developmental defects of the ventromedial hypothalamic nucleus and pituitary gonadotroph in the Ftz-F1 disrupted mice.

21 January 2018

1 reference

Three new SF-1 (NR5A1) gene mutations in two unrelated families with multiple affected members: within-family variability in 46,XY subjects and low ovarian reserve in fertile 46,XX subjects.

21 January 2018

1 reference

A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans

21 January 2018

1 reference

A mutated form of steroidogenic factor 1 (SF-1 G35E) that causes sex reversal in humans fails to synergize with transcription factor GATA-4.

21 January 2018

1 reference

Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency

21 January 2018

1 reference

Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency

21 January 2018

1 reference

Mutations in NR5A1 associated with ovarian insufficiency

21 January 2018

1 reference

Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration

21 January 2018

1 reference

Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals

21 January 2018

1 reference

Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development

21 January 2018

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The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency

21 January 2018

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Structural analyses reveal phosphatidyl inositols as ligands for the NR5 orphan receptors SF-1 and LRH-1.

21 January 2018

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A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency.

21 January 2018

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Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis

21 January 2018

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Hox11 controls the genesis of the spleen

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12957

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28032338%20AND%20SRC:MED&resulttype=core&format=json

4 April 2020

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