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Distinguishing benign from pathogenic duplications involving GPR101 and VGLL1-adjacent enhancers in the clinical setting with the bioinformatic tool POSTRE

Giampaolo Trivellin
Víctor Sánchez-Gaya
Adrian F. Daly
ResearchOpen Access15 Jan 2026
npj Genomic Medicine

P: 1-12
Mechanisms of Disease: mutations of G proteins and G-protein-coupled receptors in endocrine diseases

Many hormones use G-protein-coupled receptors and G proteins in the target cell to transduce their signals. A range of disease-causing mutations have been characterized that mimic states of hormone deficiency or excess. This Review describes these mutations, and their resultant clinical and biochemical features.

Andrea G Lania
Giovanna Mantovani
Anna Spada
Reviews01 Dec 2006
Nature Clinical Practice Endocrinology & Metabolism

Volume: 2, P: 681-693
Central hypothyroidism — a neglected thyroid disorder

Central hypothyroidism is characterized by a defect in thyroid hormone secretion caused by insufficient stimulation of the thyroid gland by TSH. Here, Beck-Peccoz and colleagues discuss the causes of central hypothyroidism and highlight areas where improvement is needed regarding diagnosis and treatment.

Paolo Beck-Peccoz
Giulia Rodari
Andrea Lania
Reviews26 May 2017
Nature Reviews Endocrinology

Volume: 13, P: 588-598
Endothelial gene regulatory elements associated with cardiopharyngeal lineage differentiation

A study uses multiple approaches to identify regulatory elements associated with endothelial cell differentiation from cardiopharyngeal mesoderm.

Ilaria Aurigemma
Olga Lanzetta
Antonio Baldini
ResearchOpen Access21 Mar 2024
Communications Biology

Volume: 7, P: 1-16
Skeletal disorders associated with the growth hormone–insulin-like growth factor 1 axis

The growth hormone (GH)–insulin-like growth factor 1 (IGF1) axis regulates bone remodelling and metabolism. This Review highlights the pathophysiological and clinical aspects of skeletal fragility associated with perturbations in the GH–IGF1 axis such as GH deficiency, anorexia nervosa, ageing and acromegaly.

Gherardo Mazziotti
Andrea G. Lania
Ernesto Canalis
Reviews14 Mar 2022
Nature Reviews Endocrinology

Volume: 18, P: 353-365

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Distinguishing benign from pathogenic duplications involving GPR101 and VGLL1-adjacent enhancers in the clinical setting with the bioinformatic tool POSTRE

Mechanisms of Disease: mutations of G proteins and G-protein-coupled receptors in endocrine diseases

Central hypothyroidism — a neglected thyroid disorder

Endothelial gene regulatory elements associated with cardiopharyngeal lineage differentiation

Skeletal disorders associated with the growth hormone–insulin-like growth factor 1 axis

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