Results 21 to 30 of about 2,905 (217)

Is There a Functional Role of Mitochondrial Dysfunction in the Pathogenesis of ARPKD? [PDF]

Frontiers in Medicine, 2021
Max C. Liebau
openalex   +2 more sources

A novel gene therapy for ARPKD based on CFTR

American Journal of Physiology - Gastrointestinal and Liver Physiology
Autosomal recessive polycystic kidney disease is associated with cysts derived from abnormal bile ducts. We focused on targeting the cysts and show that a gene therapy for ARPKD that targets the abnormal bile ducts is feasible.
Cristian Ciobanu, Patricia Outeda, William B. Guggino, Liudmila Cebotaru   +3 more
openalex   +2 more sources

c-myc antisense oligonucleotide treatment ameliorates murine ARPKD [PDF]

Kidney International, 2002
Overexpression of c-myc is postulated to play a role in the pathogenesis of polycystic kidney disease (PKD). c-myc expression is increased in all rodent models of PKD that have been examined as well as in human ADPKD. To determine whether overexpression of renal c-myc contributes to renal cyst formation, C57BL/6J-cpk litters (an animal model of ARPKD ...
Justin L. Ricker, John E. Mata, Patrick L. Iversen, Vincent H. Gattone   +3 more
openalex   +3 more sources

EGF-related growth factors in the pathogenesis of murine ARPKD [PDF]

Kidney International, 2004
Epidermal growth factor (EGF), transforming growth factor-alpha (TGF-alpha) and their receptor, EGFR, play key roles in polycystic kidney disease (PKD) pathogenesis. Renal expression of two related growth factors, amphiregulin and heparin-binding EGF, has not been examined previously in PKD.
Katherine MacRae Dell, Raghad Nemo, William E. Sweeney, Ellis D. Avner   +3 more
openalex   +3 more sources

FPC in ARPKD [PDF]

Nature Reviews Nephrology, 2017
Susan J. Allison
openalex   +2 more sources

Autosomal Recessive Polycystic Kidney Disease in a Child Complicated by Autoimmune Hemolytic Anemia: A Case Report [PDF]

Pediatric Sciences Journal, 2023
Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder that presents as an isolated polycystic renal disease in childhood, or associated with congenital hepatic fibrosis and/or Caroli disease.
Magd A. Kotb , Hend Abd El Baky , Shaimaa Sayed , Mohammed Al Komy, Marwa Onsy , Aya Aly , Andrew Tamer , Esraa Mohamed   +7 more
doaj   +1 more source

The genetics of autosomal recessive polycystic kidney disease (ARPKD).

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2022
ARPKD is a genetically inherited kidney disease that manifests by bilateral enlargement of cystic kidneys and liver fibrosis. It shows a range of severity, with 30% of individuals dying early on and the majority having good prognosis if they survive the first year of life. The reasons for this variability remain unclear.
P. Goggolidou, T. Richards
semanticscholar   +3 more sources

Next generation sequencing identifies WNT signalling as a significant pathway in Autosomal Recessive Polycystic Kidney Disease (ARPKD) manifestation and may be linked to disease severity

Biochimica et Biophysica Acta - Molecular Basis of Disease
Taylor Richards, Patricia D. Wilson, Paraskevi Goggolidou   +2 more
semanticscholar   +4 more sources

Autosomal recessive polycystic kidney disease (ARPKD)

, 2022
Yaïr Glick
openalex   +2 more sources

Heart dysfunction in a rat model with autosomal recessive polycystic kidney disease. [PDF]

J Physiol
Abstract figure legend Our results demonstrate a diastolic dysfunction in animals with severe kidney disease. Moreover, chronic kidney disease (CKD)‐induced heart fibrosis and hypertrophy are associated with a dysregulation of cardiokine signalling in autosomal recessive polycystic kidney disease (ARPKD) animals. Created using BioRender.com.
Gayrard N, Plawecki M, Lauret C, Fila M, Sicard P, Duranton F, Boukhaled JH, Cortijo-Tejero I, Lotierzo M, Jover B, Cristol JP, Raynaud F.   +11 more
europepmc   +2 more sources