Genetic studies in renal diseases

Genetic Studies in Human Prion Diseases

Human prion diseases are fatal neurodegenerative disorders that are characterized by spongiform changes, astrogliosis, and the accumulation of an abnormal prion protein (PrP(Sc)). Approximately 10%-15% of human prion diseases are familial variants that are caused by pathogenic mutations in the prion protein gene (PRNP). Point mutations or the insertions of one or more copies of a 24 bp repeat a...

Renal transplantation studies in genetic hypertension.

Genetic diseases of renal phosphate handling.

UNLABELLED Renal control of systemic phosphate homeostasis is critical as evident from inborn and acquired diseases causing renal phosphate wasting. At least three transport proteins are responsible for renal phosphate reabsorption: NAPI-IIa (SLC34A1), NAPI-IIc (SLC34A3) and PIT-2 (SLC20A2). These transporters are highly regulated by various cellular mechanisms and factors including acid-base s...

Strategies for Genetic Studies of Complex Diseases

In light of this, it is likely that GWAS hits found in intergenic regions far from known genes are true associations whose biology is not yet understood, rather than false positives. The human genome is incompletely annotated. Regions where GWAS associations have been found, but no known genes are located, could easily harbor unidentified new genes or regulatory elements. For instance, the auth...

The Relationship between Non-Renal Diseases and Renal Parenchymal Echogenicity in Children with Acute Abdominal Pain

Background Few results have shown that renal parenchymal echogenicity increases in pediatric patients with no concurrent renal diseases. This study aimed to investigate the relation between non-renal diseases and renal cortical echogenicity in children with acute abdominal pain. Materials and Methods  This cross- sectional study was conducted among 100 children referred to Amirkola Children’s ...