Humans Steroidogenic Factor 1 / genetics Receptors, Androgen / genetics Inhibins / metabolism Male Disorder of Sex Development, 46,XY / genetics Female Exome Sequencing Promoter Regions, Genetic
46,XY DSD androgen receptor disorders of sex development (DSD) hypospadias inhibin α oligogenicity steroidogenic factor 1 (SF-1/NR5A1)

Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
20 Sep 2024
Historique:
received: 09 08 2024
revised: 13 09 2024
accepted: 18 09 2024
medline: 29 9 2024
pubmed: 28 9 2024
entrez: 28 9 2024
Statut: epublish

Résumé

Steroidogenic factor 1 (SF-1) is a nuclear receptor that regulates steroidogenesis and reproductive development.

Identifiants

DOI: 10.3390/ijms251810109 PMID: 39337600
pubmed: 39337600
pii: ijms251810109
doi: 10.3390/ijms251810109
pii:
doi:

Substances chimiques

Steroidogenic Factor 1 0
NR5A1 protein, human 0
Receptors, Androgen 0
Inhibins 57285-09-3
inhibin-alpha subunit 0
AR protein, human 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : Swiss National Science Foundation
ID : 320030-197725
Pays : Switzerland
Organisme : Education Department of Basque Government, Spain
ID : POS_2020_1_0034

Auteurs

Rawda Naamneh Elzenaty (R)

Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland.
Department of BioMedical Research, University of Bern, 3008 Bern, Switzerland.
Graduate School for Cellular and Biomedical Sciences, University of Bern, 3012 Bern, Switzerland.
ORCID: 0000-0003-2669-4170

Chrysanthi Kouri (C)

Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland.
Department of BioMedical Research, University of Bern, 3008 Bern, Switzerland.
Graduate School for Cellular and Biomedical Sciences, University of Bern, 3012 Bern, Switzerland.

Idoia Martinez de Lapiscina (I)

Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland.
Department of BioMedical Research, University of Bern, 3008 Bern, Switzerland.
Biobizkaia Health Research Institute, Cruces University Hospital, University of the Basque, 48903 Barakaldo, Spain.
CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Instituto de Salud Carlos III, 28029 Madrid, Spain.
CIBER de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Endo-ERN, 1081 HV Amsterdam, The Netherlands.
ORCID: 0000-0001-8943-1429

Kay-Sara Sauter (KS)

Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland.
Department of BioMedical Research, University of Bern, 3008 Bern, Switzerland.

Francisca Moreno (F)

Department of Pediatrics, Hospital Infantil La Fe, 46026 Valencia, Spain.

Núria Camats-Tarruella (N)

Growth and Development Research Group, Vall d'Hebron Research Institute, 08035 Barcelona, Spain.
ORCID: 0000-0002-4863-8201

Christa E Flück (CE)

Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland.
Department of BioMedical Research, University of Bern, 3008 Bern, Switzerland.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains ›
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Récepteurs cytoplasmiques et nucléaires › Facteur stéroïdogène-1 ›
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Récepteurs cytoplasmiques et nucléaires › Récepteurs aux androgènes ›
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Glycoprotéines › Inhibines ›
questionsmedicales.fr › Maladies endocriniennes › Troubles gonadiques › Troubles du développement sexuel › Troubles du développement sexuel de sujets 46, XY ›
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Séquençage du génome entier › Séquençage de l'exome ›
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Composants de gène › Éléments de régulation transcriptionnelle › Régions promotrices (génétique) ›