Results 61 to 70 of about 4,765 (160)

Autosomal dominant and autosomal recessive polycystic kidney disease: hypertension and secondary cardiovascular effect in children

Frontiers in Molecular Biosciences, 2023
Autosomal dominant (ADPKD) and autosomal recessive (ARPKD) polycystic kidney disease are the most widely known cystic kidney diseases. They are significantly different from each other in terms of genetics and clinical manifestations.
L. Lucchetti, M. Chinali, F. Emma, L. Massella   +3 more
doaj   +1 more source

New rat model that phenotypically resembles autosomal recessive polycystic kidney disease [PDF]

, 2000
Numerous murine models of polycystic kidney disease (PKD) have been described. While mouse models are particularly well suited for investigating the molecular pathogenesis of PKD, rats are well established as an experimental
Dokkum, R.P.E. (Richard) van, Goedbloed, M.A. (Miriam), Guay-Woodford, L.M., Herck, H.V., Hesselink, D.A. (Dennis), Nauta, J. (Jeroen), Visser, P. (Pim), Willemsen, R. (Rob), Wright, C.J.   +8 more
core   +1 more source

Progressive renal fibrosis in murine polycystic kidney disease: An immunohistochemical observation [PDF]

, 2000
Progressive renal fibrosis in murine polycystic kidney disease: An immunohistochemical observation.BackgroundThe appearance of interstitial fibrosis in polycystic kidneys is emblematic of progressive disease.
Ban, Shinichi, Nagao, Shizuko, Neilson, Eric G., Okada, Hirokazu, Suzuki, Hiromichi, Takahashi, Hisahide   +5 more
core   +1 more source

Emerging Therapies for Childhood Polycystic Kidney Disease

Frontiers in Pediatrics, 2017
Cystic kidney diseases comprise a varied collection of hereditary disorders, where renal cysts comprise a major element of their pleiotropic phenotype.
William E. Sweeney, Ellis D. Avner
doaj   +1 more source

The fate of bone marrow-derived cells carrying a polycystic kidney disease mutation in the genetically normal kidney [PDF]

, 2012
Polycystic Kidney Disease (PKD) is a genetic condition in which dedifferentiated and highly proliferative epithelial cells form renal cysts and is frequently treated by renal transplantation.
Bertram, John, Deane, James, Johnson, Chad, Ricardo, Sharon D, Verghese, Elizabeth   +4 more
core   +1 more source

Incremental yield of exome sequencing over standard prenatal testing in structurally normal fetuses: systematic review and meta‐analysis

Ultrasound in Obstetrics &Gynecology, Volume 65, Issue 5, Page 552-559, May 2025.
ABSTRACT Objective To critically review the literature and synthesize evidence on the incremental yield of prenatal exome sequencing (PES) in fetuses with an apparently normal phenotype with a normal G‐banded karyotype or chromosomal microarray (CMA).
A. Sotiriadis, E. Demertzidou, A. Ververi, E. Tsakmaki, C. Chatzakis, F. Mone   +5 more
wiley   +1 more source

Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes [PDF]

, 2016
Background: Congenital dilatation of the bile-duct (CDD) is a rare, mostly sporadic, disorder that results in bile retention with severe associated complications. CDD affects mainly Asians.
Campbell, Desmond, Cheng, Guo, Cherny, Stacey S., Chung, Patrick H. Y., Garcia-Barcelo, Maria-Mercè, Ngo, Ngoc Diem, Sham, Pak C., So, Man-ting, Tam, Paul K., Tang, Clara S. M., Tran, Ngoc Son, Wong, John K. L., Yeung, Fanny   +12 more
core   +1 more source

Heart dysfunction in a rat model with autosomal recessive polycystic kidney disease

The Journal of Physiology, Volume 603, Issue 9, Page 2551-2567, 1 May 2025.
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.
Nathalie Gayrard, Maëlle Plawecki, Céline Lauret, Marc Fila, Pierre Sicard, Flore Duranton, Juliana H. Boukhaled, Irene Cortijo‐Tejero, Manuela Lotierzo, Bernard Jover, Jean‐Paul Cristol, Fabrice Raynaud   +11 more
wiley   +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.
Paraskevi, Goggolidou, Taylor, Richards
openaire   +2 more sources

Insights into the renal pathophysiology in Hermansky‐Pudlak syndrome‐1 from urinary extracellular vesicle proteomics and a new mouse model

FEBS Letters, Volume 599, Issue 7, Page 1055-1074, April 2025.
Hermansky‐Pudlak syndrome type 1 (HPS‐1) is a rare, autosomal recessive disorder with poorly understood renal involvement. Urinary extracellular vesicle (uEV) proteomics and a novel Hps1 mouse model reveal mitochondrial abnormalities and lipid accumulation in HPS‐1 kidney proximal tubule cells. Serum ApoA1 correlates with kidney function in our patient
Dawn M. Maynard, Bernadette R. Gochuico, Hadass Pri Chen, Christopher K. E. Bleck, Patricia M. Zerfas, Wendy J. Introne, William A. Gahl, May C. V. Malicdan   +7 more
wiley   +1 more source