Browsing Centre for Endocrinology by Title
Now showing items 322-341 of 560
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National UK guidelines for the management of paediatric craniopharyngioma.
(2023-09)Although rare, craniopharyngiomas constitute up to 80% of tumours in the hypothalamic-pituitary region in childhood. Despite being benign, the close proximity of these tumours to the visual pathways, hypothalamus, and ... -
National United Kingdom evidence- and consensus-based guidelines for the investigation, treatment and long-term follow-up of paediatric craniopharyngioma
(Karger, 2019-09)Meeting abstract RFC11.1 from 58th Annual Meeting of the ESPE -
Natriuretic Peptide Expression and Function in GH3 Somatolactotropes and Feline Somatotrope Pituitary Tumours.
(2021-01-22)Patients harbouring mutations in genes encoding C-type natriuretic peptide (CNP; NPPC) or its receptor guanylyl cyclase B (GC-B, NPR2) suffer from severe growth phenotypes; loss-of-function mutations cause achondroplasia, ... -
Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study.
(2019-03)BACKGROUND: Multiple endocrine neoplasia type 2B is a rare syndrome caused mainly by Met918Thr germline RET mutation, and characterised by medullary thyroid carcinoma, phaeochromocytoma, and extra-endocrine features. Data ... -
New directions for the treatment of adrenal insufficiency
(2015-05-06) -
Next-generation sequencing approach in the diagnosis of delayed puberty
(2020-10-01)© 2020 Elsevier Ltd The inheritance of pubertal timing is strongly influenced by genetic regulators, with conditions of delayed or absent puberty segregating within families often with Mendelian inheritance patterns. As ... -
Nicotinamide Nucleotide Transhydrogenase as a Novel Treatment Target in Adrenocortical Carcinoma.
(2018-08-01)Adrenocortical carcinoma (ACC) is an aggressive malignancy with poor response to chemotherapy. In this study, we evaluated a potential new treatment target for ACC, focusing on the mitochondrial reduced form of NAD phosphate ... -
NNT is a key regulator of adrenal redox homeostasis and steroidogenesis in male mice.
(2018-01)Nicotinamide nucleotide transhydrogenase, NNT, is a ubiquitous protein of the inner mitochondrial membrane with a key role in mitochondrial redox balance. NNT produces high concentrations of NADPH for detoxification of ... -
Non-classical growth hormone insensitivity (GHI): characterization of mild abnormalities of GH action.
(2018-09-27)GH insensitivity (GHI) presents in childhood with growth failure and in its severe form is associated with extreme short stature, dysmorphic and metabolic abnormalities. In recent years, the clinical, biochemical and genetic ... -
Normative data for insulin-like growth factor-1 (IGF-1) in healthy children and adolescents from India.
(2024-05-15)BACKGROUND: Serum IGF-1 is an important biochemical tool to diagnose and monitor GH-related disorders. However, ethnic-specific Indian data following consensus criteria for the establishment of normative data, are not ... -
Novel AIP mutation in exon 6 causing acromegaly in a German family.
(2023-08)The most frequent genetic alteration of familial isolated growth hormone producing pituitary neuroendocrine tumors is a germline mutation of the aryl hydrocarbon receptor-interacting protein (AIP) gene. Various AIP mutations ...