Results 71 to 80 of about 23,359 (243)
Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors
Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.ABSTRACT Glycerophospholipids (GPLs) are the main lipid components of cellular membranes. They are implicated in membrane structure, vesicle trafficking, neurotransmission, and cell signalling. GPL molecules are amphiphilic, organized around the three carbons of glycerol. Positions sn‐1 and sn‐2 are each esterified to a fatty acid (FA).
Foudil Lamari +2 more
wiley +1 more source
Etiology, functional status and short term outcome of patients with pituitary lesions. An experience from a developing country [PDF]
, 2009 OBJECTIVE: To describe the etiology, functional status and short term outcome of patients with pituitary lesions (PL). METHODS: Brain or pituitary MRI reports of 3753 patients were analyzed for PL over the period of 2000 to 2007, done at the Aga Khan ...
Haq, Mansoor Ul +5 more
core +1 more source
PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency [PDF]
, 2006 OBJECTIVE: Mutations of the PROP1 gene lead to combined pituitary hormone deficiency (CPHD), which is characterized by a deficiency of GH, TSH, LH/FSH, PRL and, less frequently, ACTH.
Agapito, A +12 more
core +1 more source
Life, 2020 Puberty in children with Prader-Willi syndrome (PWS) is usually delayed and/or incomplete but in some patients premature/early adrenarche is observed. We assessed the premature adrenarche (PA) in PWS patients during the recombinant human growth hormone ...
Agnieszka Lecka-Ambroziak +4 more
doaj +1 more source
Measurement of salivary testosterone in adolescents and young men with Duchenne muscular dystrophy
BMC Endocrine Disorders, 2021 Background Many young adults with Duchenne Muscular Dystrophy (DMD) receive long-term glucocorticoids (GC). GC can cause hypogonadotrophic hypogonadism and adolescents may therefore be candidates for pubertal induction. It is unclear whether men with DMD
Yolanda Alins Sahun +4 more
doaj +1 more source
A new mutation for Cantu's syndrome
Journal of Education, Health and Sport, 2022 Introduction: Cantu syndrome is one of the rare genetic syndromes. Formally, there are no diagnostic criteria for Cantu syndrome, but given the characteristic appearance and reproducible features in people with a mutation in the ABCC9 gene, there is a ...
Julia Bargieł +2 more
doaj +1 more source
Society for endocrinology guideline for understanding, diagnosing and treating female hypogonadism
Clinical Endocrinology, Volume 101, Issue 5, Page 409-442, November 2024.Abstract Female hypogonadism (FH) is a relatively common endocrine disorder in women of premenopausal age, but there are significant uncertainties and wide variation in its management. Most current guidelines are monospecialty and only address premature ovarian insufficiency (POI); some allude to management in very brief and general terms, and most ...
Channa N. Jayasena +13 more
wiley +1 more source
Neurotrophic Factor-α1/Carboxypeptidase E Functions in Neuroprotection and Alleviates Depression
Frontiers in Molecular Neuroscience, 2022 Depression is a major psychiatric disease affecting all ages and is often co-morbid with neurodegeneration in the elderly. Depression and neurodegeneration are associated with decreased neurotrophic factors.
Lan Xiao, Yoke Peng Loh
doaj +1 more source
Epilepsia, Volume 65, Issue 11, Page 3303-3323, November 2024.Abstract Objective POLR3B encodes the second largest subunit of RNA polymerase III, which is essential for transcription of small non‐coding RNAs. Biallelic pathogenic variants in POLR3B are associated with an inherited hypomyelinating leukodystrophy.
Joseph D. Symonds +36 more
wiley +1 more source