Polycystic kidney disease
C Bergmann, LM Guay-Woodford, PC Harris… - Nature reviews Disease …, 2018 - nature.com
Cystic kidneys are common causes of end-stage renal disease, both in children and in
adults. Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive …
adults. Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive …
ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies
C Bergmann - Pediatric Nephrology, 2015 - Springer
Renal cysts are clinically and genetically heterogeneous conditions. Polycystic kidney
disease (PKD) is common and its characterization has paved the way for the identification of …
disease (PKD) is common and its characterization has paved the way for the identification of …
[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 …
Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease
H Lu, MCR Galeano, E Ott, G Kaeslin, PJ Kausalya… - Nature …, 2017 - nature.com
Autosomal recessive polycystic kidney disease (ARPKD), usually considered to be a
genetically homogeneous disease caused by mutations in PKHD1, has been associated …
genetically homogeneous disease caused by mutations in PKHD1, has been associated …
A human multi-lineage hepatic organoid model for liver fibrosis
To investigate the pathogenesis of a congenital form of hepatic fibrosis, human hepatic
organoids were engineered to express the most common causative mutation for Autosomal …
organoids were engineered to express the most common causative mutation for Autosomal …
Genetics of autosomal recessive polycystic kidney disease and its differential diagnoses
C Bergmann - Frontiers in pediatrics, 2018 - frontiersin.org
Autosomal recessive polycystic kidney disease (ARPKD) is a hepatorenal fibrocystic
disorder that is characterized by enlarged kidneys with progressive loss of renal function …
disorder that is characterized by enlarged kidneys with progressive loss of renal function …
Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference
LM Guay-Woodford, JJ Bissler, MC Braun… - The Journal of …, 2014 - jpeds.com
MIM 263200) is a severe, typically early-onset form of cystic disease that primarily involves
the kidneys and biliary tract. Phenotypic expression and age at presentation can be quite …
the kidneys and biliary tract. Phenotypic expression and age at presentation can be quite …
Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?
F Hildebrandt, E Otto - Nature Reviews Genetics, 2005 - nature.com
Cystic kidney diseases are among the most frequent lethal genetic diseases. Positional
cloning of novel cystic kidney disease genes revealed that their products (cystoproteins) are …
cloning of novel cystic kidney disease genes revealed that their products (cystoproteins) are …
Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants
Autosomal recessive polycystic kidney disease (ARPKD) is a severe disease of early
childhood that is clinically characterized by fibrocystic changes of the kidneys and the liver …
childhood that is clinically characterized by fibrocystic changes of the kidneys and the liver …
Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD)
M Adeva, M El-Youssef, S Rossetti, PS Kamath… - Medicine, 2006 - journals.lww.com
The autosomal recessive form of polycystic kidney disease (ARPKD) is generally considered
an infantile disorder with the typical presentation of greatly enlarged echogenic kidneys …
an infantile disorder with the typical presentation of greatly enlarged echogenic kidneys …