Results 121 to 130 of about 2,901 (167)

Analysis of the expression pattern of the PKHD1 gene product, mutated in autossomal recessive polycystic kidney disease

, 2004
Luis Fernando Glasenapp de Menezes
openalex   +1 more source

Rare Combination of Phenotypes of Karyomegalic Interstitial Nephritis and Autosomal Recessive Polycystic Kidney Disease in an Omani Child. [PDF]

Oman Med J
Al Alawi I, Al Shehhi M, Al Riyami MS, Al Kalbani N, Al Hosni A, Al Mimani A, Al Salmi I, Sayer JA.   +7 more
europepmc   +1 more source

Expression of aVB6 integrin by Pkhd1-defective cholangiocytes links enhanced ductal secretion of Macrophage chemokines to progressive portal fibrosis in Congenital Hepatic Fibrosis

, 2013
L. Locatelli
openalex   +1 more source

Novel splice site and nonsense variants in PKHD1 cause autosomal recessive polycystic kidney disease in a Chinese Zhuang ethnic family. [PDF]

Medicine (Baltimore)
Qian C, Yan J, Huang X, Wang Z, Lin F.
europepmc   +1 more source

Evaluating gene variations in autosomal dominant polycystic kidney disease patients using whole exome sequencing and phenotype to genotype analysis. [PDF]

Ren Fail
Aypek H, Balaban RF, Huriyet N, Bulut E, Cecener G, Akgur S, Gorukmez O, Unal U, Ozkaya G, Ersoy A, Oruc A, Gul CB, Yildiz A.   +12 more
europepmc   +1 more source

Clinical outcomes of liver transplantation in Caroli syndrome: a retrospective analysis. [PDF]

Orphanet J Rare Dis
Hou F, Xiong HF, Liu Y, Zhao S, Zhang YZ, Kang Q, Liu JY, Wei L, Qu W, Zeng ZG, Zhu ZJ, Sun LY.   +11 more
europepmc   +1 more source

Estimating Lifetime Risk of Autosomal Recessive Kidney Diseases Using Population-Based Genotypic Data. [PDF]

Kidney Int Rep
Braunisch MC, Großewinkelmann CM, Menke M, Hannane N, Berutti R, Ćomić J, Günthner R, Renders L, Schmaderer C, Heemann U, Riedhammer KM, Wagner M, Hoefele J.   +12 more
europepmc   +1 more source

STING Promotes the Progression of ADPKD by Regulating Mitochondrial Function, Inflammation, Fibrosis, and Apoptosis. [PDF]

Biomolecules
Wu J, Cheng S, Lee G, Agborbesong E, Li X, Zhou X, Li X.   +6 more
europepmc   +1 more source

PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis

, 2009
Meral Gunay‐Aygun, M. Tuchman, Esperanza Font–Montgomery, Linda Lukose, Hailey Edwards, Angelica Garcia, Surasawadee Ausavarat, Shira G. Ziegler, Katie Piwnica–Worms, Joy Bryant, Isa Bernardini, Roxanne Fischer, Marjan Huizing, Lisa M. Guay‐Woodford, William A. Gahl   +14 more
openalex   +2 more sources

Open resection of gastroduodenal artery aneurysm with fistulization into the duodenum 17 years after coil embolization in a patient with Caroli disease. [PDF]

J Vasc Surg Cases Innov Tech
Said S, Crews B, Lee C, Brahmandam A, Kapil AM, Ochoa Chaar CI.   +5 more
europepmc   +1 more source