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Autosomal dominant tubulointerstitial kidney disease: Diagnosis, classification, and management - A KDIGO consensus report
(2015)
Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), and mucin-1 (MUC1). Multiple names have been ...
Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene
(2006)
The spectrum of distal renal tubular acidosis (dRTA) includes a genetically heterogeneous group of inherited conditions of both autosomal-dominant and recessive mode of inheritance. The basic defect islinked to the renal ...
Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis
(2010)
Summary Background Complement is a key component of the innate immune system, and variation in genes that regulate its activation is associated with renal and other disease. We aimed to establish the genetic basis for a ...
Resistance to etoposide in human leukemia HL-60 cells: Reduction in drug-induced DNA cleavage associated with hypophosphorylation of topoisomerase II phosphopeptides
(1996)
Tumor cell resistance to anthracyclines and epipodophyllotoxins can be due to reduced drug accumulation and/or alterations in the activity of topoisomerase II (TOPO II). HL-60 cells selected in 0.05 μg/ml doxorubicin (DOX) ...
Complete coding sequence, exon/intron arrangement and chromosome location of ZNF45, a KRAB-domain-containing gene
(1996)
Zinc finger genes represent a large multigene family present in mammalian and other genomes. A subgroup of these genes contain a conserved motif, the KRAB domain, at the NH2-terminal region, which was recently shown to ...
Molecular genetics of familial hematuric diseases
(2013)
The familial hematuric diseases are a genetically heterogeneous group of monogenic conditions, caused by mutations in one of several genes. The major genes involved are the following: (i) the collagen IV genes COL4A3/A4/A5 ...
Vitamin E and cancer: An insight into the anticancer activities of vitamin E isomers and analogs
(2008)
Current observations in the literature suggest that vitamin E may be a suitable candidate for the adjuvant treatment of cancer. Even though historically most research focused on α-tocopherol, more recent evidence suggests ...
Description of a symptomless cystic fibrosis L346P/M348K compound heterozygous Cypriot individual
(1996)
During the past few years we have been testing the hypothesis that Cyprus may have been spared many severe cystic fibrosis (CF) cases but not cystic fibrosis transmembrane conductance regulator (CFTR) mutations. We have ...