Results 101 to 110 of about 2,901 (167)

Atmin modulates Pkhd1 expression and may mediate Autosomal Recessive Polycystic Kidney Disease (ARPKD) through altered non-canonical Wnt/Planar Cell Polarity (PCP) signalling

, 2018
Taylor Richards, Kavindiya Modarage, Charlotte Dean, Aidan McCarthy-Boxer, Helen Hilton, Chris Esapa, Jill T. Norman, Patricia D. Wilson, Paraskevi Goggolidou   +8 more
openalex   +2 more sources

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

Frontiers in Medicine, 2021
Max Christoph Liebau
doaj   +1 more source

Congenital Hepatic Fibrosis and/or Autosomal Recessive Polycystic Kidney Disease: A Single-center Experience. [PDF]

Pediatr Gastroenterol Hepatol Nutr
Altay D, Yel S, Dursun İ, Arslan D.
europepmc   +1 more source

Correlation of Kidney Function, Volume and Imaging Findings, and PKHD1 Mutations in 73 Patients with Autosomal Recessive Polycystic Kidney Disease

, 2010
Meral Gunay‐Aygun, Esperanza Font–Montgomery, Linda Lukose, M. Tuchman, Jennifer Graf, Joy Bryant, Robert Kleta, Angelica Garcia, Hailey Edwards, Katie Piwnica–Worms, David Adams, Isa Bernardini, Roxanne Fischer, Donna M. Krasnewich, Neal L. Oden, Alexander Ling, Zenaide Quezado, Colleen Zak, Kailash T. Daryanani, Barış Türkbey, Peter L. Choyke, Lisa M. Guay‐Woodford, William A. Gahl   +22 more
openalex   +2 more sources

Atypical Liver Ultrasound Image in a Boy with Autosomal Recessive Polycystic Kidney Disease (ARPKD) and New PKD1 Variant-A Case Report. [PDF]

Genes (Basel)
Turczyn A, Krzemień G, Nguyen D.
europepmc   +1 more source

Presence of compound heterozygous mutations in the PKHD1 gene in an asymptomatic patient

, 2020
María I. Luis Yanes, Georgina Martínez Gómez, Carolina Tapia-Romero, Patricia Tejera-Carreño, Víctor Manuel García Nieto   +4 more
openalex   +1 more source

Recommendations for management of pregnancy complicated by Caroli disease: A case report and literature review. [PDF]

ILIVER
Liang C, Bai L, Hou W, Song WY, Zhu YX, Zheng SJ.   +5 more
europepmc   +1 more source

Data Sheet 1_Prenatal diagnosis and molecular characterization of PKHD1 variants in two Chinese fetuses with Caroli disease/syndrome.docx

Hui Huang (4122), Sheng Zhao (1575469), Dan Wang (34472), Shengbao Pan (22332730), Fang Liu (13271), Peiwen Chen (3315198), Xinlin Chen (519690)   +6 more
openalex   +1 more source

Kidney organoids demonstrate that PTH1R drives a cystogenic cAMP-pPKA-pCREB axis in developmental polycystic kidney disease. [PDF]

Am J Physiol Renal Physiol
Afrin H, Robichaud JH, Qamar U, Harris PC, Gupta N.   +4 more
europepmc   +1 more source

Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses. [PDF]

Hum Genomics
Frank MSB, Bennett MK, Ha TT, Moore L, Arts P, Byrne AB, Babic M, Arriola-Martinez L, Toubia J, Brautigan PJ, Feng J, Schwarz Q, Thomas PQ, Piltz SG, White MA, Moghimi A, Strachan K, Kwan E, Springer A, Lewit-Mendes M, Dearman J, Davis T, Kevin L, McCarthy HJ, Liebelt J, Krzesinski E, Regan M, Verma K, McGillivray G, Jayasinghe K, Jackson MR, Barnett CP, Scott HS.   +32 more
europepmc   +1 more source