Nature Search

Mutations in the deubiquitinase gene USP8 cause Cushing's disease

Martin Reincke, Martin Fassnacht and colleagues identify somatic mutations in the USP8 deubiquitinase gene in corticotroph adenomas in Cushing's disease. The mutations enhanced proteolytic cleavage and catalytic activity of USP8, which led to activation of EGF receptor signaling.

Martin Reincke
Silviu Sbiera
Masayuki Komada
Research08 Dec 2014
Nature Genetics

Volume: 47, P: 31-38
Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension

Felix Beuschlein, Martin Reincke and colleagues identify recurrent somatic mutations in ATP1A1 and ATP2B3 in aldosterone-producing adenomas with wild-type KCNJ5. The ATP1A1 and ATP2B3 mutations alter conserved residues and lead to impaired sodium, potassium and calcium ion homeostasis.

Felix Beuschlein
Sheerazed Boulkroun
Martin Reincke
Research17 Feb 2013
Nature Genetics

Volume: 45, P: 440-444
AI-guided precision parenteral nutrition for neonatal intensive care units

An artificial intelligence model defines a data-driven set of total parenteral nutrition compositions to assist clinicians in personalized treatment of neonates in intensive care and is able to adapt recommendations to patient status, with validation from large external cohorts and a blinded reader study.

Thanaphong Phongpreecha
Marc Ghanem
Nima Aghaeepour
ResearchOpen Access25 Mar 2025
Nature Medicine

Volume: 31, P: 1882-1894
A machine learning approach to leveraging electronic health records for enhanced omics analysis

COMET, an artificial intelligence method that improves the analysis of small medical studies using large clinical databases, has been created. COMET can help develop better artificial intelligence tools and identify key biomarkers across many diseases, potentially changing medical research.

Samson J. Mataraso
Camilo A. Espinosa
Nima Aghaeepour
ResearchOpen Access16 Jan 2025
Nature Machine Intelligence

Volume: 7, P: 293-306
Author Correction: AI-guided precision parenteral nutrition for neonatal intensive care units

Thanaphong Phongpreecha
Marc Ghanem
Nima Aghaeepour
Amendments and CorrectionsOpen Access09 Apr 2025
Nature Medicine

Volume: 31, P: 2070
Identification of risk loci for primary aldosteronism in genome-wide association studies

Detection of primary aldosteronism, the most common form of secondary arterial hypertension, is essential for targeted management and prevention of cardiovascular complications. Here, the authors identify genetic loci associated with primary aldosteronism, suggesting new mechanisms of disease.

Edith Le Floch
Teresa Cosentino
Maria-Christina Zennaro
ResearchOpen Access03 Sept 2022
Nature Communications

Volume: 13, P: 1-17
Author Correction: A machine learning approach to leveraging electronic health records for enhanced omics analysis

Samson J. Mataraso
Camilo A. Espinosa
Nima Aghaeepour
Amendments and CorrectionsOpen Access18 Mar 2025
Nature Machine Intelligence

Volume: 7, P: 673
Endocrine disrupting chemicals are a threat to hormone health: a commentary on behalf of the ESE

The European Society of Endocrinology (ESE), representing 20,000 endocrinologists, is concerned about the effect of endocrine disrupting chemicals (EDCs) on endocrine health, particularly thyroid and gonadal function. The policy strategies of the ESE aim to minimize overall exposure of humans to EDCs and to stimulate funding for research at the level of the European Union.

Martin Reincke
Wiebke Arlt
Jerome Bertherat
Comments & Opinion22 Feb 2024
Nature Reviews Endocrinology

Volume: 20, P: 187-188
Primary aldosteronism: current knowledge and controversies in Conn's syndrome

Primary aldosteronism in its normokalemic form accounts for about 10% of cases of hypertension. This Review details the etiology, and the clinical and biochemical features of the subtypes of primary aldosteronism. It also describes the advantages of the various screening and confirmatory strategies and the available treatment options.

Caroline Schirpenbach
Martin Reincke
Reviews01 Mar 2007
Nature Clinical Practice Endocrinology & Metabolism

Volume: 3, P: 220-227
PKA catalytic subunit mutations in adrenocortical Cushing’s adenoma impair association with the regulatory subunit

Cushing’s adenoma is associated with somatic mutations in the gene encoding the Cα subunit of protein kinase A. Calebiro et al.reveal that these mutations increase protein kinase A activity by preventing proper assembly of the protein kinase A holoenzyme.

Davide Calebiro
Annette Hannawacker
Martin J. Lohse
Research05 Dec 2014
Nature Communications

Volume: 5, P: 1-7
Recurrent adrenocortical carcinoma after laparoscopic resection

Angelika Schlamp
Klaus Hallfeldt
Martin Reincke
Reviews01 Feb 2007
Nature Clinical Practice Endocrinology & Metabolism

Volume: 3, P: 191-195
Somatic mutations of CADM1 in aldosterone-producing adenomas and gap junction-dependent regulation of aldosterone production

Recurrent somatic mutations altering residues in the transmembrane domain of CADM1 are identified in aldosterone-producing adenomas. Follow-up studies implicate a role of gap junction communication in regulating aldosterone production.

Xilin Wu
Elena A. B. Azizan
Morris J. Brown
ResearchOpen Access08 Jun 2023
Nature Genetics

Volume: 55, P: 1009-1021
Non-invasive detection of a common, surgically correctable form of hypertension

A clinical trial shows the feasibility of a noninvasive imaging approach to diagnose a surgically amenable subtype of primary aldosteronism — a common and often poorly managed form of hypertension.

Tracy Ann Williams
Martin Reincke
News & Views16 Jan 2023
Nature Medicine

Volume: 29, P: 31-32
Somatic SLC30A1 mutations altering zinc transporter ZnT1 cause aldosterone-producing adenomas and primary aldosteronism

Somatic SLC30A1 mutations altering the zinc efflux transporter ZnT1 cause primary aldosteronism. These mutations result in membrane depolarization and opening of voltage-gated calcium channels, stimulating CYP11B2 expression and aldosterone production.

Juilee Rege
Sascha Bandulik
William E. Rainey
Research14 Sept 2023
Nature Genetics

Volume: 55, P: 1623-1631
Pituitary adenoma or neuroendocrine tumour: the need for an integrated prognostic classification

This Perspective presents the outcomes of an interdisciplinary international workshop that addressed the implications of the WHO classification change of pituitary adenoma to neuroendocrine tumours. The authors propose that a comprehensive classification system be developed integrating clinical, genetic, biochemical, radiological, pathological and molecular information for all anterior pituitary neoplasms.

Ken K. Y. Ho
Ursula B. Kaiser
Shlomo Melmed
Reviews17 Aug 2023
Nature Reviews Endocrinology

Volume: 19, P: 671-678
The role of regulated necrosis in endocrine diseases

Studies have shown that the three pathways of regulated necrosis, namely necroptosis, pyroptosis and ferroptosis, can be therapeutically targeted. This Perspective summarizes existing data on the newly characterized cell death pathways in endocrine disorders.

Wulf Tonnus
Alexia Belavgeni
Andreas Linkermann
Reviews16 Jun 2021
Nature Reviews Endocrinology

Volume: 17, P: 497-510
Primary bilateral macronodular adrenal hyperplasia: definitely a genetic disease

Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) is an adrenal cause of Cushing syndrome. This Review outlines recent progress in understanding the genetics of PBMAH.

Isadora P. Cavalcante
Annabel Berthon
Jérôme Bertherat
Reviews03 Aug 2022
Nature Reviews Endocrinology

Volume: 18, P: 699-711
Characteristics of preoperative steroid profiles and glucose metabolism in patients with primary aldosteronism developing adrenal insufficiency after adrenalectomy

Xiao Wang
Daniel A. Heinrich
Martin Bidlingmaier
ResearchOpen Access27 May 2021
Scientific Reports

Volume: 11, P: 1-10
Effects of the Neuropeptide Substance P on Sleep, Mood, and Neuroendocrine Measures in Healthy Young Men

Klaus Lieb
Katrin Ahlvers
Ulrich Voderholzer
Research08 May 2002
Neuropsychopharmacology

Volume: 27, P: 1041-1049

Search

Mutations in the deubiquitinase gene USP8 cause Cushing's disease

Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension

AI-guided precision parenteral nutrition for neonatal intensive care units

A machine learning approach to leveraging electronic health records for enhanced omics analysis

Author Correction: AI-guided precision parenteral nutrition for neonatal intensive care units

Identification of risk loci for primary aldosteronism in genome-wide association studies

Author Correction: A machine learning approach to leveraging electronic health records for enhanced omics analysis

Endocrine disrupting chemicals are a threat to hormone health: a commentary on behalf of the ESE

Primary aldosteronism: current knowledge and controversies in Conn's syndrome

PKA catalytic subunit mutations in adrenocortical Cushing’s adenoma impair association with the regulatory subunit

Recurrent adrenocortical carcinoma after laparoscopic resection

Somatic mutations of CADM1 in aldosterone-producing adenomas and gap junction-dependent regulation of aldosterone production

Non-invasive detection of a common, surgically correctable form of hypertension

Somatic SLC30A1 mutations altering zinc transporter ZnT1 cause aldosterone-producing adenomas and primary aldosteronism

Pituitary adenoma or neuroendocrine tumour: the need for an integrated prognostic classification

The role of regulated necrosis in endocrine diseases

Primary bilateral macronodular adrenal hyperplasia: definitely a genetic disease

Characteristics of preoperative steroid profiles and glucose metabolism in patients with primary aldosteronism developing adrenal insufficiency after adrenalectomy

Effects of the Neuropeptide Substance P on Sleep, Mood, and Neuroendocrine Measures in Healthy Young Men

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