Results 181 to 190 of about 2,905 (217)

Disruption of Cystin Myristoylation Causes Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Journal of the American Society of Nephrology, 2022
Background: Polycystic kidney disease results in fluid-filled cysts in the kidney and is responsible for ~10% of all end-stage renal disease cases.
Chaozhe Yang, N. Harafuji, L. Caldovic, Zsuzsanna Bebok, Natalie Burrill, Erum A. Hartung, J. Moldenhauer, L. M. Guay-Woodford   +7 more
semanticscholar   +1 more source

Metformin Worsens Kidney Function and Has No Effect on Cyst Growth in the PCK Rat Model of Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Journal of the American Society of Nephrology, 2022
Background: Polycystic kidney disease results in fluid-filled cysts in the kidney and is responsible for ~10% of all end-stage renal disease cases.
O. A. Oto, Daniel J. Atwood, Anjana Chaudhary, Charles L. Edelstein   +3 more
semanticscholar   +1 more source

Characterization of Genetically Defined ARPKD-PKHD1 Patients Enriched for Childhood/Adult Onset

Journal of the American Society of Nephrology, 2022
PKD
Christian Hanna, Tabinda Jawaid, Sarah R. Senum, Maroun Chedid, Charles D. Madsen, F. Chebib, Vicente E. Torres, M. El‐Youssef, Peter C Harris   +8 more
semanticscholar   +1 more source

PHENOTYPIC VARIABILITIES IN SIBLINGS WITH ARPKD

2021
[No Abstract Available]
DÜZOVA, ALİ, Ajiri, Ramona, Burgmaier, Kathrin, Akinci, Nurver, Buscher, Anja, Eid, Loai Akram, Fila, Marc, Gessner, Michaela, GÖKCE, İBRAHİM, Massella, Laura, Mastrangelo, Antonio, Miklaszewska, Monika, Prikhodina, Larisa, Ranchin, Bruno, Ranguelov, Nadejda, Rus, Rina, Sever, Lale, Thumfahrt, Julia, Weber, Lutz Thorsten, Wuehl, Elke, Yilmaz, Alev, Doetsch, Joerg, Schaefer, Franz, Liebau, Max Christoph, DURSUN, İSMAİL   +24 more
openaire   +3 more sources

Molecular Basis of Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Advances in Anatomic Pathology, 2008
Autosomal recessive polycystic kidney disease (ARPKD) is a serious genetic disease characterized by cystic changes in the collecting ducts of the kidney and bile ducts within the liver. The gene for ARPKD (PKHD1) is located on chromosome 6p12 and encodes a protein called fibrocystin/polyductin (FPC), 1 of many proteins that are normally present at the ...
Lulu, Al-Bhalal, Mohammed, Akhtar
openaire   +2 more sources

Refining the genetic diagnostic puzzle: A case report on a Chinese ARPKD patient with a reciprocal balanced translocation and c.2507 T > C (p.V836A) in PKHD1

Nephrology
Autosomal recessive polycystic kidney disease (ARPKD) ranks among the most severe chronic kidney diseases (CKD). Its primary cause is variants in the Polycystic Kidney and Hepatic Disease 1 gene (PKHD1).
Xiaoyu Liu, Wenchao Sheng, Nan Liu, W. Fan, Shuyue Zhang, Yuanyuan Sun, Yingzi Cai, Dong Li, Jianbo Shu, Chunquan Cai   +9 more
semanticscholar   +1 more source

PKHD1mutations in autosomal recessive polycystic kidney disease (ARPKD)

Human Mutation, 2004
Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal- and liver-related morbidity and mortality. The clinical spectrum is widely variable. About 30 to 50% of affected individuals die in the neonatal period, while others survive into adulthood.
Bergmann, C., Senderek, J., Küpper, F., Schneider, F., Dornia, C., Windelen, E., Eggermann, T., Rudnik-Schöneborn, S., Kirfel, J., Furu, L., Onuchic, L., Rossetti, S., Harris, P., Somlo, S., Guay-Woodford, L., Germino, G., Moser, M., Büttner, R., Zerres, K.   +18 more
openaire   +3 more sources

Neonatal ascites in autosomal recessive polycystic kidney disease (ARPKD)

Clinical Nephrology, 2015
Neonatal ascites is a rare entity, which is usually biliary, urinary, or chylous. Congenital hepatic fibrosis as part of the manifestations of autosomal recessive polycystic kidney disease (ARPKD) is usually a histological adjunct to the diagnosis of this mainly clinically renal entity in the neonatal period.
Galina, Ling, Daniel, Landau, Carsten, Bergmann, Esther, Maor, Baruch, Yerushalmi   +4 more
openaire   +2 more sources

Polycystic Kidney Disease: ADPKD and ARPKD

2016
Cystic kidney diseases are among the most common causes of end stage renal disease both in children and adults. The two main forms of genetic cystic kidney disorders are Autosomal Dominant and Autosomal Recessive Polycystic Kidney Disease (ADPKD and ARPKD).
Max Christoph Liebau, Carsten Bergmann
openaire   +1 more source

Sex differences in amino acid composition in a rodent model of ARPKD, the PCK rat

Physiology
Polycystic Kidney Disease (PKD) is a severe, genetically inherited disease that leads to renal failure. Like several other chronic kidney diseases, male sex is a risk factor for accelerated PKD.
C. Klemens, Marharyta Semenikhina, Mykhailo Fedoriuk, Adrian Zietara, Maha Adnan Ahmed, O. Palygin, A. Staruschenko   +6 more
semanticscholar   +1 more source