Centre for Endocrinology: Recent submissions
Now showing items 301-320 of 560
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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 ... -
Genetics of Pituitary Tumours.
(Springer Nature Switzerland AG, 2019-10-07)Pituitary tumours are relatively common in the general population. Most often they occur sporadically, with somatic mutations accounting for a significant minority of somatotroph and corticotroph adenomas. Pituitary tumours ... -
Pituitary pathology and gene expression in acromegalic cats
(Endocrine Society, 2019-01-01)© 2019 Endocrine Society. The prevalence of GH-secreting pituitary tumors in domestic cats (Felis catus) is 10-fold greater than in humans. The predominant inhibitory receptors of GH-secreting pituitary tumors are somatostatin ... -
Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis.
(2020-03)Objective: CYP11A1 mutations cause P450 side-chain cleavage (scc) deficiency, a rare form of congenital adrenal hyperplasia with a wide clinical spectrum. We detail the phenotype and evolution in a male sibship identified ... -
Phosphodiesterases and cAMP pathway in pituitary diseases
(Frontiers Media SA, 2019-03-19)© 2019 Bizzi, Bolger, Korbonits and Ribeiro-Oliveira. Human phosphodiesterases (PDEs) comprise a complex superfamily of enzymes derived from 24 genes separated into 11 PDE gene families (PDEs 1-11), expressed in different ... -
Metformin to reduce metabolic complications and inflammation in patients on systemic glucocorticoid therapy: a randomised, double-blind, placebo-controlled, proof-of-concept, phase 2 trial.
(2020-04)BACKGROUND: An urgent need to reduce the metabolic side-effects of glucocorticoid overexposure has been recognised, as glucocorticoid excess can lead to Cushing's syndrome, which is associated with high morbidity. We aimed ... -
Genetic regulation in pubertal delay.
(2019-10)Delayed puberty represents the clinical presentation of a final common pathway for many different pathological mechanisms. In the majority of patients presenting with significantly delayed puberty, there is a clear family ... -
A role for two-component signaling elements in the Arabidopsis growth recovery response to ethylene.
(2018-05)Previous studies indicate that the ability of Arabidopsis seedlings to recover normal growth following an ethylene treatment involves histidine kinase activity of the ethylene receptors. As histidine kinases can function ... -
Time to Diagnosis in Cushing's Syndrome: A Meta-Analysis Based on 5367 Patients.
(2020-03-01)CONTEXT: Signs and symptoms of Cushing's syndrome (CS) overlap with common diseases, such as the metabolic syndrome, obesity, osteoporosis, and depression. Therefore, it can take years to finally diagnose CS, although early ... -
Integrins synergise to induce expression of the MRTF-A–SRF target gene ISG15 for promoting cancer cell invasion
(The Company of Biologists, 2016-04-01) -
Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities.
(2017-11-15)Congenital hypopituitarism (CH) is characterized by the deficiency of one or more pituitary hormones and can present alone or in association with complex disorders. Congenital hyperinsulinism (CHI) is a disorder of unregulated ... -
Integrin-linked kinase at a glance
(The Company of Biologists, 2012-04-15)