A5009281366- Renal and related cancers
- Radiation Therapy and Dosimetry
- Genetic Syndromes and Imprinting
- Genetic and Kidney Cyst Diseases
- Biomedical Ethics and Regulation
- Boron Compounds in Chemistry
- Carcinogens and Genotoxicity Assessment
- Sexual Differentiation and Disorders
- Renal Diseases and Glomerulopathies
- Effects of Radiation Exposure
- Oral and Maxillofacial Pathology
- Genomic variations and chromosomal abnormalities
- Electromagnetic Fields and Biological Effects
- Cancer and Skin Lesions
- Vascular Malformations and Hemangiomas
- Radiation Effects and Dosimetry
Charité - Universitätsmedizin Berlin
2024-2025
Autosomal dominant polycystic kidney disease (ADPKD) is caused primarily by pathogenic variants in the PKD1 and PKD2 genes. Although type of ADPKD variant can influence severity, rare, hypomorphic have also been reported to modify severity or cause biallelic ADPKD. This study examines whether additional, potentially protein-altering, non-pathogenic contribute phenotypic outcomes. We investigated prevalence protein-altering patients with PKD1-associated The association between outcomes,...
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of failure. Specific treatment indicated upon observed or predicted rapid progression. For latter, risk stratification tools have been developed independently based on either total volume genotyping as well clinical variables. This study aimed to improve prediction by combining both imaging and clinical-genetic scores.
Abstract Background and Aims Genetic insights are becoming increasingly influential in the understanding treatment of various kidney diseases (KD). Hundreds genes associated with monogenic disease have been identified, providing valuable into their diagnosis, management, monitoring. However, lack a unified standardized database assigned to has led diagnostic blind spots comparability issues among current studies genetics. To address this gap, we created “Kidney-Genetics”, regularly updated,...