Results 151 to 160 of about 3,912 (211)

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

Assessing the potential of DZIP1L gene in autosomal recessive polycystic kidney disease gene therapy

Pediatric Discovery
Fahreddin Palaz
doaj   +1 more source

Autosomal recessive polycystic kidney disorder due to two novel compound heterozygote mutations in PKHD1 gene: case report

, 2017
Mohammad Miryounesi, Majid Fardaei, Kaoru Tabei, Soudeh Ghafouri‐Fard   +3 more
openalex   +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

A novel PKD1 variant in a patient with very-early-onset ADPKD. [PDF]

Hum Genome Var
Kondoh T, Ando T, Matsumoto Y, Kumagai N, Tanaka Y, Morisada N, Nozu K, Ikezumi Y.   +7 more
europepmc   +1 more source

Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes

Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes
Background Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 gene. The clinical spectrum is often more variable than previously considered. We aimed to analyze the clinical features of genetically diagnosed ARPKD in the Japanese population.
openaire  

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

CILIOPATIAS E DOENÇA RENAL [PDF]

, 2012
Francisco Fabião Fernandes Correia Gouveia
core  

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

Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort. [PDF]

Kidney Int Rep
Lemberg K, Shalaby MA, Zion E, Saida K, Yousef K, Schneider R, Mertens ND, Mansour B, Kolvenbach CM, Merz LM, Riedhammer KM, Braun A, Hölzel S, Yu S, Lomjansook K, Kalkar G, Marchuk D, Elmubarak I, Franken GAC, Shril S, El Desoky S, Kari JA, Buerger F, Hildebrandt F.   +23 more
europepmc   +1 more source