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Mitochondrial disease and endocrine dysfunction

Nature reviews. Endocrinology, 2017-02, Vol.13 (2), p.92

2017

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Steroidogenic factor-1 (NR5A1): orphan nuclear receptor finds a home in human reproduction, and beyond

EBioMedicine, 2024-02, Vol.100, p.104984-104984, Article 104984

Achermann, John C.

2024

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Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

The Journal of clinical investigation, 2017-03, Vol.127 (3), p.942-953

2017

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

Baillière's best practice & research. Clinical endocrinology & metabolism, 2015-08, Vol.29 (4), p.607-619

2015

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Steroidogenic factor-1 (SF-1, NR5A1) and human disease

Molecular and cellular endocrinology, 2011-04, Vol.336 (1-2), p.198-205

2011

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Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals

Birth defects research. Part C. Embryo today, 2016-12, Vol.108 (4), p.309-320

2016

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

The journal of clinical endocrinology and metabolism, 2016-01, Vol.101 (1), p.284-292

2016

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

Nature genetics, 1999-06, Vol.22 (2), p.125-126

1999

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Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

American journal of human genetics, 2018-03, Vol.102 (3), p.487-493

2018

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Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7

Haematologica (Roma), 2018-03, Vol.103 (3), p.427

2018

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Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

Nature genetics, 2012-07, Vol.44 (7), p.788-792

2012

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Disorders of sex development: effect of molecular diagnostics

Nature reviews. Endocrinology, 2015-08, Vol.11 (8), p.478

2015

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A conserved NR5A1-responsive enhancer regulates SRY in testis-determination

Nature communications, 2024-03, Vol.15 (1), p.2796-2796, Article 2796

2024

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

Human molecular genetics, 2016-08, Vol.25 (16), p.3446-3453

2016

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Primary adrenal insufficiency: New genetic causes and their long‐term consequences

Clinical endocrinology (Oxford), 2020-01, Vol.92 (1), p.11-20

2020

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Steroidogenic Factor-1 (SF-1, NR5A1) and 46,XX Ovotesticular Disorders of Sex Development: One Factor, Many Phenotypes

Hormone research in paediatrics, 2017-01, Vol.87 (3), p.189-190

2017

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Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report

Frontiers in endocrinology (Lausanne), 2022-03, Vol.13, p.860055-860055

2022

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Investigating ultrastructural morphology in MIRAGE syndrome-derived fibroblasts using transmission electron microscopy. [version 2; peer review: 3 approved with reservations]

F1000 research, 2023, Vol.12, p.155-155

2023

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Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant

Frontiers in pediatrics, 2020-12, Vol.8, p.619041

2020

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Human RSPO1/R-spondin1 is expressed during early ovary development and augments β-catenin signaling

PloS one, 2011-01, Vol.6 (1), p.e16366-e16366

2011

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Two Novel Missense Mutations in G Protein-Coupled Receptor 54 in a Patient with Hypogonadotropic Hypogonadism

The journal of clinical endocrinology and metabolism, 2005-03, Vol.90 (3), p.1849-1855

2005

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Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB Mutations

Hormone research in paediatrics, 2020-08, Vol.93 (2), p.137-142

2020

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Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as Familial Glucocorticoid Deficiency

The journal of clinical endocrinology and metabolism, 2009-10, Vol.94 (10), p.3865-3871

2009

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Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome

Frontiers in endocrinology (Lausanne), 2022-08, Vol.13, p.953707

2022

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Analysis of genetic variability in Turner syndrome linked to long-term clinical features

Frontiers in endocrinology (Lausanne), 2023-09, Vol.14, p.1227164-1227164

2023

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Mitochondrial disease and endocrine dysfunction

Steroidogenic factor-1 (NR5A1): orphan nuclear receptor finds a home in human reproduction, and beyond

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

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

Steroidogenic factor-1 (SF-1, NR5A1) and human disease

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals

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

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

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

Disorders of sex development: effect of molecular diagnostics

A conserved NR5A1-responsive enhancer regulates SRY in testis-determination

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

Primary adrenal insufficiency: New genetic causes and their long‐term consequences

Steroidogenic Factor-1 (SF-1, NR5A1) and 46,XX Ovotesticular Disorders of Sex Development: One Factor, Many Phenotypes

Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report

Investigating ultrastructural morphology in MIRAGE syndrome-derived fibroblasts using transmission electron microscopy. [version 2; peer review: 3 approved with reservations]

Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant

Human RSPO1/R-spondin1 is expressed during early ovary development and augments β-catenin signaling

Two Novel Missense Mutations in G Protein-Coupled Receptor 54 in a Patient with Hypogonadotropic Hypogonadism

Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB Mutations

Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as Familial Glucocorticoid Deficiency

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome

Analysis of genetic variability in Turner syndrome linked to long-term clinical features

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