Adrenal cortex development and related disorders leading to adrenal insufficiency

11-Oxygenated androgens in health and disease

(2020) Adina F. Turcu et al.   Nature Reviews Endocrinology

Angiotensin II induces coordinated calcium bursts in aldosterone-producing adrenal rosettes

(2020) Nick A. Guagliardo et al.   Nature Communications

β-Catenin and FGFR2 regulate postnatal rosette-based adrenocortical morphogenesis

(2020) Sining Leng et al.   Nature Communications

Beta-Catenin Causes Adrenal Hyperplasia by Blocking Zonal Transdifferentiation

(2020) Emanuele Pignatti et al.   Cell Reports

Inhibition of placental CYP19A1 activity remains as a valid hypothesis for 46,XX virilization in P450 oxidoreductase deficiency

(2020) Christa E. Flück et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Stem cell function and plasticity in the normal physiology of the adrenal cortex

(2020) Gary D. Hammer et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

A ZNRF3-dependent Wnt/β-catenin signaling gradient is required for adrenal homeostasis

(2019) Kaitlin J. Basham et al.   GENES & DEVELOPMENT

The Adult Adrenal Cortex Undergoes Rapid Tissue Renewal in a Sex-Specific Manner

(2019) Anaëlle Grabek et al.   Cell Stem Cell

Isolated glucocorticoid deficiency: Genetic causes and animal models

(2019) Avinaash Maharaj et al.   JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

Glucocorticoids—All-Rounders Tackling the Versatile Players of the Immune System

(2019) Cindy Strehl et al.   Frontiers in Immunology

ACTH signalling and adrenal development: lessons from mouse models

(2019) Tatiana V Novoselova et al.   Endocrine Connections

Mutation update for the NR5A1 gene involved in DSD and infertility

(2019) Helena Fabbri‐Scallet et al.   HUMAN MUTATION

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

(2019) Federica Buonocore et al.   CLINICAL ENDOCRINOLOGY

Chemogenetic activation of adrenocortical Gq signaling causes hyperaldosteronism and disrupts functional zonation

(2019) Matthew J. Taylor et al.   JOURNAL OF CLINICAL INVESTIGATION

Alternative pathway androgen biosynthesis and human fetal female virilization

(2019) Nicole Reisch et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

News about the genetics of congenital primary adrenal insufficiency

(2018) Florence Roucher-Boulez et al.   ANNALES D ENDOCRINOLOGIE

The human fetal adrenal produces cortisol but no detectable aldosterone throughout the second trimester

(2018) Zoe C. Johnston et al.   BMC Medicine

MECHANISMS IN ENDOCRINOLOGY: Rare Defects in Adrenal Steroidogenesis

(2018) Walter Miller   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Androgen excess is due to elevated 11-oxygenated androgens in treated children with congenital adrenal hyperplasia

(2018) Clemens Kamrath et al.   JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency

(2018) Fady Hannah-Shmouni et al.   REVIEWS IN ENDOCRINE & METABOLIC DISORDERS

Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells

(2018) Gerard Ruiz-Babot et al.   Cell Reports

Human fetal adrenal cells retain age-related stem- and endocrine-differentiation potential in culture

(2018) Giada Poli et al.   FASEB JOURNAL

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

(2018) Clare V. Logan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss of endogenous RNF43 function enhances proliferation and tumour growth of intestinal and gastric cells

(2018) Victoria Neumeyer et al.   CARCINOGENESIS

Steroidogenic differentiation and PKA signaling are programmed by histone methyltransferase EZH2 in the adrenal cortex

(2018) Mickael Mathieu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic defects in pediatric-onset adrenal insufficiency in Japan

(2017) Naoko Amano et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

MECHANISMS IN ENDOCRINOLOGY: Update on pathogenesis of primary adrenal insufficiency: beyond steroid enzyme deficiency and autoimmune adrenal destruction

(2017) Christa E Flück   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications

(2017) Andreas R. Janecke et al.   HUMAN MUTATION

Review of Markers of Zona Glomerulosa and Aldosterone-Producing Adenoma Cells

(2017) Teresa M. Seccia et al.   HYPERTENSION

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

(2017) Rathi Prasad et al.   JOURNAL OF CLINICAL INVESTIGATION

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

(2017) Svjetlana Lovric et al.   JOURNAL OF CLINICAL INVESTIGATION

Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans

(2017) Federica Buonocore et al.   JOURNAL OF CLINICAL INVESTIGATION

Conservation of the Enzyme–Coenzyme Interfaces in FAD and NADP Binding Adrenodoxin Reductase—A Ubiquitous Enzyme

(2017) Israel Hanukoglu   JOURNAL OF MOLECULAR EVOLUTION

Disorders in the initial steps of steroid hormone synthesis

(2017) Walter L. Miller   JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

Regulation of zonation and homeostasis in the adrenal cortex

(2017) Emanuele Pignatti et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

A model for measuring the health burden of classic congenital adrenal hyperplasia in adults

(2016) Silvia R. Hummel et al.   CLINICAL ENDOCRINOLOGY

The adrenal capsule is a signaling center controlling cell renewal and zonation throughRspo3

(2016) Valerie Vidal et al.   GENES & DEVELOPMENT

Mouse models of adrenocortical tumors

(2016) Kaitlin J. Basham et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome and are associated with loss of chromosome 7

(2016) Satoshi Narumi et al.   NATURE GENETICS

PKA inhibits WNT signalling in adrenal cortex zonation and prevents malignant tumour development

(2016) Coralie Drelon et al.   Nature Communications

Impact of ACTH Signaling on Transcriptional Regulation of Steroidogenic Genes

(2016) Carmen Ruggiero et al.   Frontiers in Endocrinology

Sympathoadrenal neural crest cells: The known, unknown and forgotten?

(2015) Rachael Lumb et al.   DEVELOPMENT GROWTH & DIFFERENTIATION

Wnt4 is essential to normal mammalian lung development

(2015) Arianna Caprioli et al.   DEVELOPMENTAL BIOLOGY

Adrenal Development in Mice Requires GATA4 and GATA6 Transcription Factors

(2015) Sergei G. Tevosian et al.   ENDOCRINOLOGY

Human 3β-hydroxysteroid dehydrogenase deficiency seems to affect fertility but may not harbor a tumor risk: lesson from an experiment of nature

(2015) Marie-Anne Burckhardt et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Wnt Signaling Inhibits Adrenal Steroidogenesis by Cell-Autonomous and Non–Cell-Autonomous Mechanisms

(2014) Elisabeth M. Walczak et al.   MOLECULAR ENDOCRINOLOGY

CDKN1C mutations: two sides of the same coin

(2014) Thomas Eggermann et al.   TRENDS IN MOLECULAR MEDICINE

Pharmacogenomics of human P450 oxidoreductase

(2014) Amit V. Pandey et al.   Frontiers in Pharmacology

Fetal adrenal capsular cells serve as progenitor cells for steroidogenic and stromal adrenocortical cell lineages in M. musculus

(2013) M. A. Wood et al.   DEVELOPMENT

Adrenocortical Zonation Results from Lineage Conversion of Differentiated Zona Glomerulosa Cells

(2013) Bethany D. Freedman et al.   DEVELOPMENTAL CELL

WT1 Maintains Adrenal-Gonadal Primordium Identity and Marks a Population of AGP-like Progenitors within the Adrenal Gland

(2013) Roberto Bandiera et al.   DEVELOPMENTAL CELL

Ontogeny of the Adrenal Gland in the Spiny Mouse, With Particular Reference to Production of the Steroids Cortisol and Dehydroepiandrosterone

(2013) Tracey A. Quinn et al.   ENDOCRINOLOGY

Androgen Synthesis in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

(2013) C. Kamrath et al.   HORMONE AND METABOLIC RESEARCH

Genomic Analysis of Sexual Dimorphism of Gene Expression in the Mouse Adrenal Gland

(2013) A. El Wakil et al.   HORMONE AND METABOLIC RESEARCH

WNT/β-catenin signalling is activated in aldosterone-producing adenomas and controls aldosterone production

(2013) Annabel Berthon et al.   HUMAN MOLECULAR GENETICS

Transcriptome Profiling Reveals Differentially Expressed Transcripts Between the Human Adrenal Zona Fasciculata and Zona Reticularis

(2013) Juilee Rege et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Lessons from the gene expression pattern of the rat zona glomerulosa

(2013) Koshiro Nishimoto et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Of marsupials and men: “Backdoor” dihydrotestosterone synthesis in male sexual differentiation

(2013) Anna Biason-Lauber et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Development of monoclonal antibodies against human CYP11B1 and CYP11B2

(2013) Celso E. Gomez-Sanchez et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

NADPH P450 oxidoreductase: Structure, function, and pathology of diseases

(2013) Amit V. Pandey et al.   PHARMACOLOGY & THERAPEUTICS

Glucocorticoid receptor signaling in health and disease

(2013) Mahita Kadmiel et al.   TRENDS IN PHARMACOLOGICAL SCIENCES

Transcriptome Analysis Reveals Differentially Expressed Transcripts in Rat Adrenal Zona Glomerulosa and Zona Fasciculata

(2012) Koshiro Nishimoto et al.   ENDOCRINOLOGY

MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans

(2012) Claire R. Hughes et al.   JOURNAL OF CLINICAL INVESTIGATION

GATA4 and GATA6 control mouse pancreas organogenesis

(2012) Manuel Carrasco et al.   JOURNAL OF CLINICAL INVESTIGATION

Adrenarche in nonhuman primates: the evidence for it and the need to redefine it

(2012) A J Conley et al.   JOURNAL OF ENDOCRINOLOGY

A brief history of adrenal research

(2012) Walter L. Miller   MOLECULAR AND CELLULAR ENDOCRINOLOGY

ZNRF3 promotes Wnt receptor turnover in an R-spondin-sensitive manner

(2012) Huai-Xiang Hao et al.   NATURE

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

(2012) Valerie A Arboleda et al.   NATURE GENETICS

Why Boys Will Be Boys: Two Pathways of Fetal Testicular Androgen Biosynthesis Are Needed for Male Sexual Differentiation

(2011) Christa E. Flück et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DAX1 suppresses FXR transactivity as a novel co-repressor

(2011) Jin Li et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

GATA4 Deficiency Impairs Ovarian Function in Adult Mice1

(2011) Antti Kyrönlahti et al.   BIOLOGY OF REPRODUCTION

Liquid chromatography-tandem mass spectrometry analysis of human adrenal vein corticosteroids before and after adrenocorticotropic hormone stimulation

(2011) Yasuhiro Nakamura et al.   CLINICAL ENDOCRINOLOGY

Development and Function of the Human Fetal Adrenal Cortex: A Key Component in the Feto-Placental Unit

(2011) Hitoshi Ishimoto et al.   ENDOCRINE REVIEWS

The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders

(2011) Walter L. Miller et al.   ENDOCRINE REVIEWS

Evidence of Adrenal Failure in Aging Dax1-Deficient Mice

(2011) Joshua O. Scheys et al.   ENDOCRINOLOGY

Preventing preterm birth: the past limitations and new potential of animal models

(2010) C. K. Ratajczak et al.   Disease Models & Mechanisms

Progenitor Cell Expansion and Organ Size of Mouse Adrenal Is Regulated by Sonic Hedgehog

(2010) Chen-Che Jeff Huang et al.   ENDOCRINOLOGY

Constitutive β-catenin activation induces adrenal hyperplasia and promotes adrenal cancer development

(2010) Annabel Berthon et al.   HUMAN MOLECULAR GENETICS

Defining adrenarche in the rhesus macaque (Macaca mulatta), a non-human primate model for adrenal androgen secretion

(2010) A.J. Conley et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

GATA4 regulates Sertoli cell function and fertility in adult male mice☆

(2010) Antti Kyrönlahti et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Humans possess two mitochondrial ferredoxins, Fdx1 and Fdx2, with distinct roles in steroidogenesis, heme, and Fe/S cluster biosynthesis

(2010) A. D. Sheftel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cushing's Syndrome and Fetal Features Resurgence in Adrenal Cortex–Specific Prkar1a Knockout Mice

(2010) Isabelle Sahut-Barnola et al.   PLoS Genetics

Cited2 Is an Essential Regulator of Adult Hematopoietic Stem Cells

(2009) Kamil R. Kranc et al.   Cell Stem Cell

Targeted disruption of Sonic Hedgehog in the mouse adrenal leads to adrenocortical hypoplasia

(2009) Saunders Ching et al.   GENESIS

The transcription co-factor CITED2 functions during sex determination and early gonad development

(2009) Frank William Buaas et al.   HUMAN MOLECULAR GENETICS

Type 5 17β-Hydroxysteroid Dehydrogenase (AKR1C3) Contributes to Testosterone Production in the Adrenal Reticularis

(2009) Yasuhiro Nakamura et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

InactivatingPAPSS2Mutations in a Patient with Premature Pubarche

(2009) Cees Noordam et al.   NEW ENGLAND JOURNAL OF MEDICINE

Shh signaling regulates adrenocortical development and identifies progenitors of steroidogenic lineages

(2009) Peter King et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4

(2008) Hannah Mandel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cited2 is required for the proper formation of the hyaloid vasculature and for lens morphogenesis

(2008) Y. Chen et al.   DEVELOPMENT

Targeted disruption of  -catenin in Sf1-expressing cells impairs development and maintenance of the adrenal cortex

(2008) A. C. Kim et al.   DEVELOPMENT

Cited2 is required for fetal lung maturation

(2008) Bing Xu et al.   DEVELOPMENTAL BIOLOGY

CBP/p300-Interacting Transactivator, with Glu/Asp-Rich C-Terminal Domain, 2, and Pre-B-Cell Leukemia Transcription Factor 1 in Human Adrenal Development and Disease

(2008) Bruno Ferraz-de-Souza et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

EZH1 Mediates Methylation on Histone H3 Lysine 27 and Complements EZH2 in Maintaining Stem Cell Identity and Executing Pluripotency

(2008) Xiaohua Shen et al.   MOLECULAR CELL

DAX-1 (Dosage-Sensitive Sex Reversal-Adrenal Hypoplasia Congenita Critical Region on the X-Chromosome, Gene 1) Selectively Inhibits Transactivation But Not Transrepression Mediated by the Glucocorticoid Receptor in a LXXLL-Dependent Manner

(2008) Junguo Zhou et al.   MOLECULAR ENDOCRINOLOGY