Phenotypic Variation of SF1 Gene Mutations

被引：13

作者：

Philibert, Pascal ^{[1
,2
]}

Paris, Francoise ^{[1
,2
]}

Audran, Francoise ^{[1
]}

Kalfa, Nicolas ^{[1
]}

Polak, Michel ^{[3
]}

Thibaud, Elisabeth ^{[3
]}

Pinto, Graziella ^{[3
]}

Houang, Muriel ^{[4
]}

Zenaty, Delphine ^{[5
]}

Leger, Juliane ^{[5
]}

Mas, Jean-Christophe ^{[6
]}

Pienkowski, Catherine ^{[7
]}

Einaudi, Silvia ^{[8
]}

Damiani, Durval ^{[9
]}

Ten, Svetlana ^{[10
,11
]}

Sinha, Sunil ^{[10
,11
]}

Poulat, Francis ^{[12
]}

Sultan, Charles ^{[1
,2
,13
]}

机构：

[1] CHU Montpellier, Hop Lapeyronie, Serv Hormonol, Montpellier, France

[2] Univ Montpellier, Inst Genet Humaine, Equipe CNRS, UPR Dev & Pathol Gonade 1142, Montpellier, France

[3] Hop Necker Enfants Malad, AP HP, Serv Endocrinol & Gynecol Enfant, Paris, France

[4] Hop Armand Trousseau, Serv Explorat Fonct, F-75571 Paris 12, France

[5] Hop Robert Debre, AP HP, Serv Endocrinol, F-75019 Paris, France

[6] CHU Nice, Hop Archet, Serv Pediat, F-06202 Nice, France

[7] CHU Toulouse, Hop Enfants, Toulouse, France

[8] Regina Margherita Hosp, Dept Paediat Endocrinol, Turin, Italy

[9] Univ Sao Paulo, Hosp Clin, Fac Med, Inst Crianca, BR-09500900 Sao Paulo, Brazil

[10] State Univ New York Downstate Childrens Hosp, Maimonides Med Ctr, Div Pediat Endocrinol, Dept Pediat Endocrinol, Brooklyn, NY USA

[11] Infants & Children Hosp Brooklyn Maimonides, Brooklyn, NY USA

[12] CNRS, Inst Genet Humaine, Equipe CNRS, UPR Dev & Pathol Gonade 1142, Paris, France

[13] CHU Montpellier, Hop A de Villeneuve, Serv Pediat 1, Unite Endocrinol Gynecol Pediat, Montpellier, France

来源：

HORMONAL AND GENETIC BASIS OF SEXUAL DIFFERENTIATION DISORDERS AND HOT TOPICS IN ENDOCRINOLOGY | 2011年 / 707卷

关键词：

STEROIDOGENIC FACTOR-I; ADRENAL INSUFFICIENCY; GLY146ALA POLYMORPHISM; SEX DEVELOPMENT; NR5A1; FACTOR-1; DISORDERS; SF-1; ASSOCIATION; FAILURE;

D O I：

10.1007/978-1-4419-8002-1_16

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Knockout of the steroidogenic factor 1 (Sf1) gene in 46,XY mice causes complete adrenal failure associated with gonadal dysgenesis, undervirilization, and persistence of mullerian ducts [1]. SF1 (NR5A1, SF1/Ad4BP/FTZF1) is a member of the nuclear receptor superfamily, and it plays a crucial role in the fetal development of the adrenal gland [2] and testes [3]. Sf1 is considered to be the master regulator of the reproductive system because it regulates the expression of a wide array of genes required for testis and adrenal development and hormone synthesis [4]. © 2011 Springer Science+Business Media, LLC.

引用

页码：67 / 72

页数：6

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