Results 121 to 130 of about 3,912 (211)

Autosomal recessive polycystic kidney disease: late-onset renal enlargement and proteinuria with rare PKHD1 mutation—a case report

Egyptian Journal of Medical Human Genetics
Background Autosomal recessive polycystic kidney disease (ARPKD) is a genetically inherited pediatric disorder. It is caused by a mutation in the PKHD1 gene located on chromosome 6.
Tina Zeraati, Mohammad Reza Abbaszadegan, Anoush Azarfar, Ehsan Ghayoor Karimiani, Malihe Lotfi, Abbas Ali Zeraati   +5 more
doaj   +1 more source

p53 mutation regulates PKD genes and results in co-occurrence of PKD and tumorigenesis

Cancer Biology & Medicine, 2019
Objective Polycystic kidney disease (PKD) is the major cause of kidney failure and mortality in humans. It has always been suspected that the development of cystic kidney disease shares features with tumorigenesis, although the evidence is unclear.
Haili Li, Yongjin Zhang, Juhua Dan, Ruoyu Zhou, Cui Li, Rong Li, Xiaoming Wu, Sanjay Kumar Singh, Jeffrey T. Chang, Julun Yang, Ying Luo   +10 more
doaj   +1 more source

Estudio clínico y mutacional de una cohorte de pacientes con mutación en el gen hnf1b [PDF]

, 2013
HNF1B (Hepatocyte Nuclear Factor 1-B localizado en el cromosoma 17q21.3) es un factor de transcripción con un papel fundamental en los primeros estadios del desarrollo y en la organogénesis de diferentes tejidos como el renal, hepático, pancreático o ...
Ayasreh Fierro, Nadia, Universitat Autònoma de Barcelona. Departament de Medicina, Universitat Autònoma de Barcelona. Facultat de Medicina   +2 more
core   +1 more source

Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the PKHD1 gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramnios [PDF]

, 2022
Takuya Sakyu, Samantha Stover, Yue Wang, Patricia A. Ward, Manisha Gandhi, Michael Braun, Ignatia B. Van den Veyver, Weimin Bi   +7 more
openalex   +1 more source

Inhibition of mTOR with sirolimus slows disease progression in Han:SPRD rats with autosomal dominant polycystic kidney disease (ADPKD) [PDF]

, 2017
Background. Autosomal dominant polycystic kidney disease (ADPKD) is characterized by dysregulated tubular epithelial cell growth, resulting in the formation of multiple renal cysts and progressive renal failure.
Hall, Michael N., Le Hir, Michel, Molle, Klaus D., Serra, Andreas L., Wahl, Patricia R., Wüthrich, Rudolf P.   +5 more
core  

MicroRNA15a modulates expression of the cell-cycle regulator Cdc25A and affects hepatic cystogenesis in a rat model of polycystic kidney disease [PDF]

, 2008
Hyperproliferation of bile duct epithelial cells due to cell-cycle dysregulation is a key feature of cystogenesis in polycystic liver diseases (PCLDs). Recent evidence suggests a regulatory role for microRNAs (miRNAs) in a variety of biological processes,
Banales, J.M. (Jesús M.), LaRusso, N.F. (Nicholas F.), Lee, S.O. (Seung-Ok), Masyuk, A.I. (Anatoly I.), Masyuk, T.V. (Tatyana V.), Splinter, P.L. (Patrick L.), Stroope, A. (Angela)   +6 more
core  

Management of delivery of a fetus with autosomal recessive polycystic kidney disease: a case report of abdominal dystocia and review of the literature

Journal of Medical Case Reports, 2019
Background Autosomal recessive renal polycystic kidney disease occurs in 1 in 20,000 live births. It is caused by mutations in both alleles of the PKHD1 gene.
Sarah Belin, Cristina Delco, Paloma Parvex, Sylviane Hanquinet, Siv Fokstuen, Begoña Martinez de Tejada, Isabelle Eperon   +6 more
doaj   +1 more source

AIRE mutation in an elderly Caroli’s patient with cholangitis and sepsis: a case report

Journal of Medical Case Reports
Background Caroli’s disease, an autosomal recessive, hereditary-related disorder, is a rare disease, in which the diagnosis is based primarily on medical imaging and pathophysiological examinations.
Yan Yan, Juanjuan Fu, Lilin Jiang, Zhonghua Lu, Renfang Chen   +4 more
doaj   +1 more source

Abstract

JPGN Reports, Volume 6, Issue S2, Page S1-S814, September 2025.
wiley   +1 more source

Emerging targeted strategies for the treatment of autosomal dominant polycystic kidney disease. [PDF]

, 2018
Autosomal dominant polycystic kidney disease (ADPKD) is a widespread genetic disease that leads to renal failure in the majority of patients. The very first pharmacological treatment, tolvaptan, received Food and Drug Administration approval in 2018 ...
Bourgeois, Bryan C, Kruger, Samantha L, Shillingford, Jonathan M, Torres, Jacob, Weimbs, Thomas   +4 more
core   +1 more source