Podocytopathies
Podocytopathies are kidney diseases in which direct or indirect podocyte injury drives
proteinuria or nephrotic syndrome. In children and young adults, genetic variants in> 50 …
proteinuria or nephrotic syndrome. In children and young adults, genetic variants in> 50 …
A primer on congenital anomalies of the kidneys and urinary tracts (CAKUT)
V Murugapoopathy, IR Gupta - … Journal of the American society of …, 2020 - journals.lww.com
Congenital anomalies of the kidneys and urinary tracts (CAKUT) are disorders caused by
defects in the development of the kidneys and their outflow tracts. The formation of the …
defects in the development of the kidneys and their outflow tracts. The formation of the …
Prevalence estimates of predicted pathogenic COL4A3–COL4A5 variants in a population sequencing database and their implications for Alport syndrome
Background The reported prevalence of Alport syndrome varies from one in 5000 to one in
53,000 individuals. This study estimated the frequencies of predicted pathogenic COL4A3 …
53,000 individuals. This study estimated the frequencies of predicted pathogenic COL4A3 …
[HTML][HTML] Monogenic causes of chronic kidney disease in adults
DM Connaughton, C Kennedy, S Shril, N Mann… - Kidney international, 2019 - Elsevier
Approximately 500 monogenic causes of chronic kidney disease (CKD) have been
identified, mainly in pediatric populations. The frequency of monogenic causes among …
identified, mainly in pediatric populations. The frequency of monogenic causes among …
Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice
N Knoers, C Antignac, C Bergmann… - Nephrology Dialysis …, 2022 - academic.oup.com
The overall diagnostic yield of massively parallel sequencing–based tests in patients with
chronic kidney disease (CKD) is 30% for paediatric cases and 6–30% for adult cases. These …
chronic kidney disease (CKD) is 30% for paediatric cases and 6–30% for adult cases. These …
[HTML][HTML] Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) controversies conference
A Köttgen, E Cornec-Le Gall, J Halbritter, K Kiryluk… - Kidney international, 2022 - Elsevier
Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as
well as genes for complex kidney diseases that manifest in combination with environmental …
well as genes for complex kidney diseases that manifest in combination with environmental …
[HTML][HTML] Genome-wide screening in human kidney organoids identifies developmental and disease-related aspects of nephrogenesis
R Ungricht, L Guibbal, MC Lasbennes, V Orsini… - Cell Stem Cell, 2022 - cell.com
Human organoids allow the study of proliferation, lineage specification, and 3D tissue
development. Here we present a genome-wide CRISPR screen in induced pluripotent stem …
development. Here we present a genome-wide CRISPR screen in induced pluripotent stem …
The genetics and pathogenesis of CAKUT
CM Kolvenbach, S Shril, F Hildebrandt - Nature Reviews Nephrology, 2023 - nature.com
Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a large variety of
malformations that arise from defective kidney or urinary tract development and frequently …
malformations that arise from defective kidney or urinary tract development and frequently …
Spotlight on genetic kidney diseases: A call for drug delivery and nanomedicine solutions
N Trac, A Ashraf, J Giblin, S Prakash, S Mitragotri… - ACS …, 2023 - ACS Publications
Nanoparticles as drug delivery carriers have benefited diseases, including cancer, since the
1990s, and more recently, their promise to quickly and efficiently be mobilized to fight …
1990s, and more recently, their promise to quickly and efficiently be mobilized to fight …
Whole-exome sequencing enables a precision medicine approach for kidney transplant recipients
N Mann, DA Braun, K Amann, W Tan… - Journal of the …, 2019 - journals.lww.com
Background Whole-exome sequencing (WES) finds a CKD-related mutation in
approximately 20% of patients presenting with CKD before 25 years of age. Although …
approximately 20% of patients presenting with CKD before 25 years of age. Although …