Autosomal dominant tubulointerstitial kidney disease
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a recently defined entity
that includes rare kidney diseases characterized by tubular damage and interstitial fibrosis …
that includes rare kidney diseases characterized by tubular damage and interstitial fibrosis …
Genetic, environmental, and epigenetic factors involved in CAKUT
N Nicolaou, KY Renkema, EMHF Bongers… - Nature Reviews …, 2015 - nature.com
Congenital anomalies of the kidney and urinary tract (CAKUT) refer to a spectrum of
structural renal malformations and are the leading cause of end-stage renal disease in …
structural renal malformations and are the leading cause of end-stage renal disease in …
Mutations in GANAB, encoding the glucosidase IIα subunit, cause autosomal-dominant polycystic kidney and liver disease
B Porath, VG Gainullin, E Cornec-Le Gall… - The American Journal of …, 2016 - cell.com
Autosomal-dominant polycystic kidney disease (ADPKD) is a common, progressive, adult-
onset disease that is an important cause of end-stage renal disease (ESRD), which requires …
onset disease that is an important cause of end-stage renal disease (ESRD), which requires …
The copy number variation landscape of congenital anomalies of the kidney and urinary tract
M Verbitsky, R Westland, A Perez, K Kiryluk, Q Liu… - Nature …, 2019 - nature.com
Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric
kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in …
kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in …
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 …
HNF1B-associated renal and extra-renal disease—an expanding clinical spectrum
RL Clissold, AJ Hamilton, AT Hattersley… - Nature Reviews …, 2015 - nature.com
Heterozygous mutations in the gene that encodes the transcription factor hepatocyte nuclear
factor 1β (HNF1B) represent the most common known monogenic cause of developmental …
factor 1β (HNF1B) represent the most common known monogenic cause of developmental …
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 …
Diabetes mellitus, a complex and heterogeneous disease, and the role of insulin resistance as a determinant of diabetic kidney disease
J Karalliedde, L Gnudi - Nephrology dialysis transplantation, 2016 - academic.oup.com
Diabetes mellitus (DM) is increasingly recognized as a heterogeneous condition. The
individualization of care and treatment necessitates an understanding of the individual …
individualization of care and treatment necessitates an understanding of the individual …
[HTML][HTML] Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract
DY Hwang, GC Dworschak, S Kohl, P Saisawat… - Kidney international, 2014 - Elsevier
Congenital anomalies of the kidney and urinary tract (CAKUT) account for approximately
half of children with chronic kidney disease. CAKUT can be caused by monogenic …
half of children with chronic kidney disease. CAKUT can be caused by monogenic …
[HTML][HTML] Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—a KDIGO consensus report
Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the
genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN) …
genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN) …