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Mitochondrial disease and endocrine dysfunction

Nature reviews. Endocrinology, 2017-02, Vol.13 (2), p.92-104

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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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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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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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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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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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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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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Disorders of sex development: effect of molecular diagnostics

Nature reviews. Endocrinology, 2015-08, Vol.11 (8), p.478-488

2015

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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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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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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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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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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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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

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

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

2023

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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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Clinical, Genetic, and Functional Characterization of Four Patients Carrying Partial Loss-of-Function Mutations in the Steroidogenic Acute Regulatory Protein (StAR)

The journal of clinical endocrinology and metabolism, 2010-07, Vol.95 (7), p.3352-3359

2010

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SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development

The journal of clinical endocrinology and metabolism, 2008-05, Vol.93 (5), p.1865-1873

2008

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Mitochondrial disease and endocrine dysfunction

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

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

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

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

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

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

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

Disorders of sex development: effect of molecular diagnostics

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

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

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

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

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

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

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome

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

Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as Familial Glucocorticoid Deficiency

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

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

Clinical, Genetic, and Functional Characterization of Four Patients Carrying Partial Loss-of-Function Mutations in the Steroidogenic Acute Regulatory Protein (StAR)

SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development

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