Literature DB >> 22218443

Multifunctional role of steroidogenic factor 1 and disorders of sex development.

Maricilda Palandi de Mello1, Emerson Salvador de Souza França, Helena Campos Fabbri, Andréa Trevas Maciel-Guerra, Gil Guerra-Júnior.   

Abstract

Disorders of sex development (DSD) involve several conditions that result from abnormalities during gonadal determination and differentiation. Some of these disorders may manifest at birth by ambiguous genitalia; others are diagnosed only at puberty, by the delayed onset of secondary sexual characteristics. Sex determination and differentiation in humans are processes that involve the interaction of several genes such as WT1, NR5A1, NR0B1, SOX9, among others, in the testicular pathway, and WNT4, DAX1, FOXL2 and RSPO1, in the ovarian pathway. One of the major proteins in mammalian gonadal differentiation is the steroidogenic nuclear receptor factor 1 (SF1). This review will cover some of the most recent data on SF1 functional roles and findings related to mutations in its coding gene, NR5A1.

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Year:  2011        PMID： 22218443     DOI： 10.1590/s0004-27302011000800015

Source DB:  PubMed          Journal:  Arq Bras Endocrinol Metabol        ISSN： 0004-2730


  6 in total

1.  46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing.

Authors:  Ralf Werner; Hartmut Merz; Wiebke Birnbaum; Louise Marshall; Tatjana Schröder; Benedikt Reiz; Jennifer M Kavran; Tobias Bäumer; Philipp Capetian; Olaf Hiort
Journal:  J Clin Endocrinol Metab       Date:  2015-04-30       Impact factor: 5.958

2.  Clinicopathological significance of steroidogenic factor-1 expression in ovarian cancer versus ovarian sex cord stromal tumor.

Authors:  Zhuo-ying Hu; Liang-dan Tang; Hong-yu Zhang; Jing-ya Niu; Meng Lou
Journal:  Tumour Biol       Date:  2015-01-22

3.  Steroidogenic factor 1 promotes aggressive growth of castration-resistant prostate cancer cells by stimulating steroid synthesis and cell proliferation.

Authors:  Samantha R Lewis; Curtis J Hedman; Toni Ziegler; William A Ricke; Joan S Jorgensen
Journal:  Endocrinology       Date:  2013-11-21       Impact factor: 4.736

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

Authors:  Helena Campos Fabbri; Juliana Gabriel Ribeiro de Andrade; Fernanda Caroline Soardi; Flávia Leme de Calais; Reginaldo José Petroli; Andréa Trevas Maciel-Guerra; Gil Guerra-Júnior; Maricilda Palandi de Mello
Journal:  BMC Med Genet       Date:  2014-01-10       Impact factor: 2.103

5.  Enantiomer-specific activities of an LRH-1 and SF-1 dual agonist.

Authors:  Suzanne G Mays; Józef Stec; Xu Liu; Emma H D'Agostino; Richard J Whitby; Eric A Ortlund
Journal:  Sci Rep       Date:  2020-12-17       Impact factor: 4.379

6.  Sex-specific splicing of Z- and W-borne nr5a1 alleles suggests sex determination is controlled by chromosome conformation.

Authors:  Xiuwen Zhang; Susan Wagner; Clare E Holleley; Janine E Deakin; Kazumi Matsubara; Ira W Deveson; Denis O'Meally; Hardip R Patel; Tariq Ezaz; Zhao Li; Chexu Wang; Melanie Edwards; Jennifer A Marshall Graves; Arthur Georges
Journal:  Proc Natl Acad Sci U S A       Date:  2022-01-25       Impact factor: 11.205
  6 in total

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