New NR5A1 mutations and phenotypic variations of gonadal dysgenesis

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

(2016) Dorien Baetens et al.   GENETICS IN MEDICINE

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

(2016) Anu Bashamboo et al.   HUMAN MOLECULAR GENETICS

IdenticalNR5A1Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues

(2016) Maki Igarashi et al.   HUMAN MUTATION

Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort

(2016) Tulay Guran et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice

(2016) Mami Miyado et al.   Biology of Sex Differences

DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease

(2015) Jenifer P. Suntharalingham et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Fertility preservation in a family with a novel NR5A1 mutation

(2015) Hiroko Yagi et al.   ENDOCRINE JOURNAL

Mutational screening of NR5A1 gene encoding steroidogenic factor 1 in cryptorchidism and male factor infertility and functional analysis of seven undescribed mutations

(2015) Alberto Ferlin et al.   FERTILITY AND STERILITY

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

(2015) Ralf Werner et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation

(2015) Ralf Werner et al.   Sexual Development

The novel p.Cys65Tyr mutation in NR5A1gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency

(2014) Helena Campos Fabbri et al.   BMC Medical Genetics

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

(2014) Sally Tantawy et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

NR5A1 Gene Mutations: Clinical, Endocrine and Genetic Features in Two Girls with 46,XY Disorder of Sex Development

(2014) Silvano Bertelloni et al.   Hormone Research in Paediatrics

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

(2014) David Zangen et al.   JOURNAL OF CLINICAL INVESTIGATION

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development

(2014) Dorien Baetens et al.   Orphanet Journal of Rare Diseases

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

(2014) Jana Malikova et al.   PLoS One

Rapid generation of mouse models with defined point mutations by the CRISPR/Cas9 system

(2014) Masafumi Inui et al.   Scientific Reports

Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males

(2013) Albrecht Röpke et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1

(2013) Tracy Brandt et al.   European Journal of Medical Genetics

Characteristic Testicular Histology Is Useful for the Identification of NR5A1 Gene Mutations in Prepubertal 46,XY Patients

(2013) Noriko Nishina-Uchida et al.   Hormone Research in Paediatrics

A Novel Heterozygous Mutation in Steroidogenic Factor-1 in Pubertal Virilization of a 46,XY Female Adolescent

(2013) Zeynep Sıklar et al.   Journal of Pediatric and Adolescent Gynecology

A novelNR5A1variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development

(2012) Joyce Y. Wu et al.   CLINICAL ENDOCRINOLOGY

Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations

(2012) S. Tantawy et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Preserved Fertility in a Patient with a 46,XY Disorder of Sex Development due to a New Heterozygous Mutation in theNR5A1/SF-1Gene: Evidence of 46,XY and 46,XX Gonadal Dysgenesis Phenotype Variability in Multiple Members of an Affected Kindred

(2012) Marta Ciaccio et al.   Hormone Research in Paediatrics

Ten Novel Mutations in theNR5A1Gene Cause Disordered Sex Development in 46,XY and Ovarian Insufficiency in 46,XX Individuals

(2012) N. Camats et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Genetic Control of Testis Development

(2012) R. Sekido et al.   Sexual Development

SOX9 and SF1 are involved in cyclic AMP-mediated upregulation of anti-Müllerian gene expression in the testicular prepubertal Sertoli cell line SMAT1

(2011) Celina Lasala et al.   AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM

Dynamic expression of Tbx2 subfamily genes in development of the mouse reproductive system

(2011) Nataki C. Douglas et al.   DEVELOPMENTAL DYNAMICS

Mutation Analysis of NR5A1 Encoding Steroidogenic Factor 1 in 77 Patients with 46, XY Disorders of Sex Development (DSD) Including Hypospadias

(2011) Slimane Allali et al.   PLoS One

Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1

(2010) Anu Bashamboo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Predominant Sertoli cell deficiency in a 46,XY disorders of sex development patient with a new NR5A1/SF-1 mutation transmitted by his unaffected father

(2010) Pascal Philibert et al.   FERTILITY AND STERILITY

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

(2010) Diana Monica Warman et al.   Hormone Research in Paediatrics

Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in theNR5A1 gene: a case study

(2010) F. C. Soardi et al.   JOURNAL OF APPLIED GENETICS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

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

(2010) Pascal Philibert et al.   Reproductive Biology and Endocrinology

A Novel Heterozygous Mutation of Steroidogenic Factor-1 (SF-1/Ad4BP) Gene (NR5A1) in a 46, XY Disorders of Sex Development (DSD) Patient without Adrenal Failure

(2009) Toshihiro TAJIMA et al.   ENDOCRINE JOURNAL

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency

(2009) Birgit Köhler et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Mutations inNR5A1Associated with Ovarian Insufficiency

(2009) Diana Lourenço et al.   NEW ENGLAND JOURNAL OF MEDICINE

Decreased Recognition of SUMO-Sensitive Target Genes following Modification of SF-1 (NR5A1)

(2008) L. A. Campbell et al.   MOLECULAR AND CELLULAR BIOLOGY

Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer

(2008) Ryohei Sekido et al.   NATURE