RSS 1.0Centre for Endocrinology
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Research activity in the Centre for Endocrinology spans between clinically applied research in endocrinology to basic research in endocrine signalling pathways.
Recent Submissions
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Phenotypic and genotypic features of a large kindred with a germline AIP variant.
(John Wiley and Sons, 2020-04-23)CONTEXT: Acromegaly is usually a sporadic disease, but familial cases occur. Mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are associated with familial pituitary adenoma predisposition. However, ... -
Glucocorticoid replacement therapies: past, present and future
(Elsevier, 2019-09-04)© 2019 Elsevier Ltd Since the original description of adrenal insufficiency by Thomas Addison in 1855, there has been an exponential growth in the understanding of adrenal gland biology and its role in the hypothalamic–p ... -
Pituitary tumour fibroblast-derived cytokines influence tumour aggressiveness.
(BioScientifica [, 2019-12)Tumour-associated fibroblasts (TAFs) are key elements of the tumour microenvironment, but their role in pituitary neuroendocrine tumours (PitNETs) has been little explored. We hypothesised that TAF-derived cytokines may ... -
Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors.
(2020-06-01)CONTEXT: Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are responsible for a subset of familial isolated pituitary adenoma (FIPA) cases and sporadic pituitary neuroendocrine tumors ... -
LGR4 deficiency results in delayed puberty through impaired Wnt/β-catenin signaling.
(2020-06-04)The initiation of puberty is driven by an upsurge in hypothalamic gonadotropin-releasing hormone (GnRH) secretion. In turn, GnRH secretion upsurge depends on the development of a complex GnRH neuroendocrine network during ... -
Pseudoacromegaly: A differential diagnostic problem for acromegaly with a genetic solution
(Endocrine Society, 2017-07-14)© 2017 Endocrine Society. Acromegaly is usually not a difficult condition to diagnose once the possibility of this disease has been raised. However, a few conditions present with some aspects of acromegaly or gigantism but ... -
A Novel Stem Cell Model for the Triple a Syndrome
(Karger, 2018)Meeting abstract FC1.6 from 57th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE) -
Pachydermoperiostosis masquerading as acromegaly
(2017-02)© 2017 by the Endocrine Society. Context: Acromegaly usually is suspected on clinical grounds. Biochemical confirmation is required to optimize therapy, but there are other differential diagnoses. Case Description: We ... -
Stem Cells, Self-Renewal, and Lineage Commitment in the Endocrine System
(Frontiers Media, 2019-11-08)The endocrine system coordinates a wide array of body functions mainly through secretion of hormones and their actions on target tissues. Over the last decades, a collective effort between developmental biologists, ... -
SGPL1 Missense Mutation in an Infant with Primary Adrenal Insufficiency (PAI), Congenital Nephrotic Syndrome, Primary Hypothyroidism and Gonadal Failure
(2018)Meeting abstract from 57th Annual ESPE Conference, Athens, Greece, 27 - 29 Sep 2018. -
GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients.
(Bioscientifica Ltd, 2020-03-01)OBJECTIVES: The homozygous GH receptor (GHR) pseudoexon (6Ψ) mutation leads to growth hormone insensitivity (GHI) with clinical and biochemical heterogeneity. We investigated whether transcript heterogeneity (6Ψ-GHR to ... -
Is the sigma-1 receptor a potential pharmacological target for cardiac pathologies? A systematic review.
(2020-02)Sigma-1 receptors are ligand-regulated chaperone proteins, involved in several cellular mechanisms. The aim of this systematic review was to examine the effects that the sigma-1 receptor has on the cardiovascular system. ... -
Pediatric Parathyroid Carcinoma: A Case Report and Review of the Literature.
(2019-12-01)Primary hyperparathyroidism (PHPT) is a rare endocrine disease in the pediatric population. Sporadic parathyroid adenomas remain the most common cause of pediatric PHPT. Parathyroid carcinoma (PC) is an extremely rare cause ... -
A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy.
(Frontiers Media, 2020-04-08)Background: Loss of function mutations in SGPL1 are associated with Sphingosine-1-phosphate lyase insufficiency syndrome, comprising steroid resistant nephrotic syndrome, and primary adrenal insufficiency (PAI) in the ... -
Assessment of Cardiavascular Changes following Trans-sphenoidal Surgery in Acromegalic Patients.
(Medknow Publications, 2019-09-10)Cardiovascular disease represents the most prevalent comorbidity in acromegaly, accounting for up to 80% of complications and it has been reported to importantly contribute to death.[1] In this issue of Neurology India, ... -
Clinical and Pathological Aspects of Silent Pituitary Adenomas.
(Oxford University Press, 2018-07-17)CONTEXT: Silent pituitary adenomas are anterior pituitary tumors with hormone synthesis but without signs or symptoms of hormone hypersecretion. They have been increasingly recognized and represent challenging diagnostic ... -
Site-Specific Encoding of Photoactivity in Antibodies Enables Light-Mediated Antibody-Antigen Binding on Live Cells
(Wiley Online, 2019-12-09)Antibodies have found applications in several fields, including, medicine, diagnostics, and nanotechnology, yet methods to modulate antibody–antigen binding using an external agent remain limited. Here, we have developed ...
