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 …
[图书][B] Heptinstall's Pathology of the Kidney
JC Jennette, VD D'Agati - 2023 - books.google.com
For nearly 60 years, Heptinstall's Pathology of the Kidney has been the reference of choice
for both pathologists and nephrologists for expert, authoritative coverage of kidney disease …
for both pathologists and nephrologists for expert, authoritative coverage of kidney disease …
PAX2 Gene Mutation in Pediatric Renal Disorders—A Narrative Review
C Muntean, C Chirtes, B Baczoni… - International Journal of …, 2023 - mdpi.com
The PAX2 gene is a transcription factor that is essential for the development of the urinary
system among other transcription factors. The role of PAX2 is highlighted from the seventh …
system among other transcription factors. The role of PAX2 is highlighted from the seventh …
Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience
KM Riedhammer, J Ćomić, V Tasic, J Putnik… - European Journal of …, 2023 - nature.com
Individuals with congenital anomalies of the kidney and urinary tract (CAKUT) show a broad
spectrum of malformations. CAKUT can occur in an isolated fashion or as part of a …
spectrum of malformations. CAKUT can occur in an isolated fashion or as part of a …
Case 36-2023: A 19-Year-Old Man with Diabetes and Kidney Cysts
A Vivante, W Tan, SG Harrington… - New England Journal …, 2023 - Mass Medical Soc
Case 36-2023: A 19-Year-Old Man with Diabetes and Kidney Cysts | New England Journal of
Medicine Skip to main content The New England Journal of Medicine homepage Advanced …
Medicine Skip to main content The New England Journal of Medicine homepage Advanced …
Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract
DM Connaughton, F Hildebrandt - American Journal of Medical …, 2022 - Wiley Online Library
Abstract Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) is a developmental
disorder of the kidney and/or genito‐urinary tract that results in end stage kidney disease …
disorder of the kidney and/or genito‐urinary tract that results in end stage kidney disease …
The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a single institution
T Vaisitti, V Bracciamà, AC Faini, GM Brach Del Prever… - Human Genomics, 2023 - Springer
Purpose Inherited kidney diseases are among the leading causes of kidney failure in
children, resulting in increased mortality, high healthcare costs and need for organ …
children, resulting in increased mortality, high healthcare costs and need for organ …
Ocular manifestations of congenital anomalies of the kidney and urinary tract (CAKUT)
Congenital anomalies of the kidney and urinary tract (CAKUT) are among the most common
birth defects worldwide and a major cause of kidney failure in children. Extra-renal …
birth defects worldwide and a major cause of kidney failure in children. Extra-renal …
Tips for testing adults with suspected genetic kidney disease
J Savige - American Journal of Kidney Diseases, 2024 - Elsevier
Genetic kidney disease is common but often unrecognized. It accounts for most cystic kidney
diseases and tubulopathies, many forms of congenital abnormalities of the kidney and …
diseases and tubulopathies, many forms of congenital abnormalities of the kidney and …
(Zebra) fishing for nephrogenesis genes
BE Chambers, NE Weaver, CM Lara, TK Nguyen… - Tissue …, 2024 - Taylor & Francis
Kidney disease is a devastating condition affecting millions of people worldwide, where over
100,000 patients in the United States alone remain waiting for a lifesaving organ transplant …
100,000 patients in the United States alone remain waiting for a lifesaving organ transplant …