State of the science and ethical considerations for preimplantation genetic testing for monogenic cystic kidney diseases and ciliopathies
WS Thompson, SN Babayev… - Journal of the …, 2023 - journals.lww.com
There is a broad phenotypic spectrum of monogenic polycystic kidney diseases (PKD).
These disorders often involve cilia-related genes and lead to the development of fluid-filled …
These disorders often involve cilia-related genes and lead to the development of fluid-filled …
Cystic Kidney Diseases in Children and Adults: Differences and Gaps in Clinical Management
Cystic kidney diseases, when broadly defined, have a wide differential diagnosis extending
from recessive diseases with a prenatal or pediatric diagnosis, to the most common …
from recessive diseases with a prenatal or pediatric diagnosis, to the most common …
[HTML][HTML] The Han:SPRD Rat: A Preclinical Model of Polycystic Kidney Disease
I Kofotolios, MJ Bonios, M Adamopoulos, I Mourouzis… - Biomedicines, 2024 - mdpi.com
Autosomal Dominant Polycystic Kidney Disease (ADPKD) stands as the most prevalent
hereditary renal disorder in humans, ultimately culminating in end-stage kidney disease …
hereditary renal disorder in humans, ultimately culminating in end-stage kidney disease …
[HTML][HTML] The dominant findings of a recessive man: from Mendel's kid pea to kidney
K Tory - Pediatric Nephrology, 2023 - Springer
The research of Mendel, born two centuries ago, still has many direct implications for our
everyday clinical work. He introduced the terms “dominant” and “recessive” characters and …
everyday clinical work. He introduced the terms “dominant” and “recessive” characters and …
Potential Therapeutic Interventions for Cardiovascular Disease in Autosomal Dominant Polycystic Kidney Disease
P Sagar - 2024 - ses.library.usyd.edu.au
Cardiovascular disease (CVD) is a major cause of morbidity and mortality in autosomal
dominant polycystic kidney disease (ADPKD). While the current interventions are …
dominant polycystic kidney disease (ADPKD). While the current interventions are …
# 3092 Case report: Renal cystic disease caused to heterozygous NEK8 variant in pediatric patient
C Ciavaglia, L Cirillo, B Francesca… - Nephrology Dialysis …, 2024 - academic.oup.com
Abstract Background and Aims Polycystic kidney diseases (PKDs) are the most prevalent
inherited kidney disease. They are caused by pathogenic variants in genes encoding for …
inherited kidney disease. They are caused by pathogenic variants in genes encoding for …