Browsing by Subject "Kidney"
Now showing items 1-6 of 6
-
Article
The clinical picture of primary Sjogren's syndrome: A retrospective study
(1982)The clinical and laboratory features of 47 patients with primary Sjogren's syndrome, confirmed by lip biopsy, were analyzed in this study. The majority of our patients had the classical signs and symptoms of Sjogren's ...
-
Article
Evidence for activation of the unfolded protein response in collagen iv nephropathies
(2014)Thin-basement-membrane nephropathy (TBMN) and Alport syndrome (AS) are progressive collagen IV nephropathies caused by mutations in COL4A3/A4/A5 genes. These nephropathies invariably present with microscopic hematuria and ...
-
Article
Familial C3 Glomerulopathy Associated with CFHR5 Mutations: Clinical Characteristics of 91 Patients in 16 Pedigrees
(2011)Background and objectives Complement factor H and related proteins (CFHR) are key regulators of the alternative complement pathway, where loss of function mutations lead to a glomerulopathy with isolated mesangial C3 ...
-
Article
Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease
(2003)Autosomal dominant polycystic kidney disease (ADPKD) is a common Mendelian disorder that affects approximately 1 in 1000 live births. Mutations of two genes, PKD1 and PKD2, account for the disease in approximately 80 to ...
-
Article
Glufosfamide administered using a 1-hour infusion given as first-line treatment for advanced pancreatic cancer. A phase II trial of the EORTC-new drug development group
(2003)The activity of glufosfamide (β-D-glucopyranosyl-N,N′ -di-(2-chloroethyl)-phosphoric acid diamide) against pancreatic cancer was investigated in a multicentre, phase II clinical study. Chemotherapy-naïve patients with ...
-
Article
Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1
(2014)Background and objectives The genetic cause of medullary cystic kidney disease type 1 was recently identified as a cytosine insertion in the variable number of tandem repeat region of MUC1 encoding mucoprotein-1 (MUC1), a ...