Cells, 2020 Sorting nexin 27 (SNX27), a PDZ (Postsynaptic density-95/Discs large/Zonula occludens 1) domain-containing protein, cooperates with a retromer complex, which regulates intracellular trafficking and the abundance of membrane proteins.
Hyo-Jung Choi +6 more
doaj +1 more source
Altered agonist sensitivity of a mutant V2 receptor suggests a novel therapeutic strategy for nephrogenic diabetes insipidus. [PDF]
, 2014 Loss of function mutations of the type 2 vasopressin receptor (V2R) in kidney can lead to nephrogenic diabetes insipidus (NDI). We studied a previously described, but uncharacterized mutation of V2R (N321K missense mutation) of an NDI patient.
Balla, András +5 more
core +1 more source
Hermansky‐Pudlak Syndrome: From Molecular Pathogenesis to Targeted Therapies
IUBMB Life, Volume 77, Issue 5, May 2025.ABSTRACT Hermansky‐Pudlak syndrome (HPS) is a rare inherited disorder caused by defects in lysosome‐related organelles (LROs) in various tissues, including platelets, melanocytes, and endothelial cells. Key features of HPS include oculocutaneous albinism, bleeding tendency, and, in some cases, pulmonary fibrosis, granulomatous colitis, and ...
Francesca Tondi +6 more
wiley +1 more source
Secondary autoimmune hypothalamitis with severe memory impairment 7 years after the onset of diabetes insipidus due to lymphocytic hypophysitis: a case report [PDF]
, 2022 Background Autoimmune hypothalamitis is a very rare neuroendocrine disorder that causes central diabetes insipidus, headache, visual impairment, and sometimes cognitive impairment.
Asada, Takahiro +7 more
core +1 more source
Association of Anaesthetists guidelines: the use of blood components and their alternatives
Anaesthesia, Volume 80, Issue 4, Page 425-447, April 2025.Summary Background The administration of blood components and their alternatives can be lifesaving. Anaemia, bleeding and transfusion are all associated with poor peri‐operative outcomes. Considerable changes in the approaches to optimal use of blood components and their alternatives, driven by the findings of large randomised controlled trials and ...
Akshay Shah +12 more
wiley +1 more source
, 2022 Research and Practice in Thrombosis and Haemostasis, Volume 6, Issue S1, October 2022.
wiley +1 more source
BMC Endocrine Disorders, 2018 Background Gestational diabetes insipidus (GDI) is a rare endocrine complication during pregnancy that is associated with vasopressinase overproduction from the placenta.
Tatsuya Kondo +8 more
doaj +1 more source
Qualitative detection of desmopressin in plasma by liquid chromatography-tandem mass spectrometry [PDF]
, 2012 This work describes a liquid chromatography-electrospray tandem mass spectrometry method for detection of desmopressin in human plasma in the low femtomolar range.
Delbeke, Frans +7 more
core +1 more source
Autonomic nervous system dysregulation in children with monosymptomatic nocturnal enuresis
Acta Paediatrica, Volume 113, Issue 10, Page 2288-2296, October 2024.Abstract Aim To investigate the role of autonomic nervous system in subpopulations of children with enuresis. Methods We included 35 children with enuresis, divided in children with (17) and without nocturnal polyuria (18) and 43 healthy controls. For all participants hormones and neurotransmitters were measured.
Maria Angeli +7 more
wiley +1 more source
Vasopressin and oxytocin receptors (version 2019.4) in the IUPHAR/BPS Guide to Pharmacology Database [PDF]
, 2019 Vasopressin (AVP) and oxytocin (OT) receptors (nomenclature as recommended by NC-IUPHAR [92]) are activated by the endogenous cyclic nonapeptides vasopressin and oxytocin.
Bichet, Daniel +15 more
core +3 more sources