Results 101 to 110 of about 7,038 (206)
Türk Biyokimya DergisiMutations detected in the AVPR2 gene (arginine vasopressin type 2 receptor) are known to cause nephrogenic diabetes insipidus (NDI). Several pharmacological chaperones (PCs) target misfolded AVPR2 proteins and rescue them from the quality control system ...
Avcu Elif Merve +2 more
doaj +1 more source
Severe lithium-induced nephrogenic diabetes insipidus: The diuresis paradox
South African Medical JournalWe report a case of profound nephrogenic diabetes insipidus (NDI) in which renal resistance to antidiuretic hormone results in dilute polyuria despite normal circulating concentrations.
G S Tatz +3 more
doaj +1 more source
Is there a gender difference in antidiuretic response to desmopressin in children? [PDF]
, 2013 De Bruyne, Pauline +4 more
core +1 more source
Expression of mutant Ins2C96Y results in enhanced tubule formation causing enlargement of pre-Golgi intermediates of CHO cells [PDF]
, 2018 Misfolded proteins are recognized by the protein quality control and eventually degraded by the ubiquitin-proteasome system. Previously, we demonstrated accumulation of a misfolded non-glycosylated protein, namely proinsulin, in enlarged pre-Golgi ...
Fan, Jing-Yu +2 more
core
Tubulointerstitial nephritis in primary Sjögren syndrome: clinical manifestations and response to treatment [PDF]
, 2016 BACKGROUND: Primary Sjögren syndrome (pSS) is a common autoimmune condition which primarily affects epithelial tissue, often including the kidney causing either tubulointerstitial nephritis (TIN) or more rarely, an immune complex related ...
Ciurtin, C +3 more
core
A Pedigree Study of Hereditary Diabetes Insipidus Caused by X Chromosome AVPR2 Gene Mutation
International Medical Case Reports JournalLei Li,* Yong Fan,* Guoli Du, Jing Xu, Sheng Jiang State Key Laboratory of Pathogenesis, Prevention and Treatment of High Incidence Diseases in Central Asia; Department of Endocrinology, The First Affiliated Hospital of Xinjiang Medical ...
Li L, Fan Y, Du G, Xu J, Jiang S
doaj
Localization and trafficking of aquaporin 2 in the kidney [PDF]
, 2008 Kuniaki Takata +4 more
core +1 more source
Identification of a novel large deletion mutation in the <i>AVPR2</i> gene responsible for hereditary nephrogenic diabetes insipidus in an infant: a case report. [PDF]
Transl PediatrHuang Y +5 more
europepmc +1 more source