Results 141 to 150 of about 3,398 (180)

Kidney organoid models of polycystic kidney disease: challenges and future directions. [PDF]

Am J Physiol Renal Physiol
Afrin H, Qamar U, Robichaud JH, Ellabbad M, Harris PC, Gupta N.   +5 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

Precision Medicine in Pediatric Nephrology: From Shared Clinical Phenotypes to Genotype-Guided Diagnosis and Management. [PDF]

Genes (Basel)
Dotis J, Printza N.
europepmc   +1 more source

Targeted genomic DNA sequencing (506-gene panel) and whole-exome sequencing analysis of EBV-positive inflammatory follicular dendritic cell sarcoma. [PDF]

BMC Cancer
You Z, Chen S, Chen X, Chen X, Wang C.
europepmc   +1 more source

The spectrum of diseases, genetic landscape and new mutation sites of hereditary cystic kidney disease. [PDF]

Clin Kidney J
Bi J, Guo W, Ji P, Li S, Wang P, Li Q, Xie Y.   +6 more
europepmc   +1 more source

Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1 [PDF]

Journal of Molecular Medicine, 2014
Autosomal recessive polycystic kidney disease (ARPKD) results from mutations in the human PKHD1 gene. Both this gene, and its mouse ortholog, Pkhd1, are primarily expressed in renal and biliary ductal structures.
Peter Igarashi, Amber K O'Connor, Gregory Germino   +2 more
exaly   +6 more sources

Pkhd1cyli/cyli mice have altered renal Pkhd1 mRNA processing and hormonally sensitive liver disease [PDF]

Journal of Molecular Medicine, 2023
Autosomal-recessive polycystic kidney disease (ARPKD; MIM #263200) is a severe, hereditary, hepato-renal fibrocystic disorder that causes early childhood morbidity and mortality.
Surajit Bhattacharya, Heather Gordish-Dressman, Chaozhe Yang   +2 more
exaly   +4 more sources

Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD) [PDF]

Kidney International, 2005
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).BackgroundARPKD is associated with mutations in the PKHD1 gene on chromosome 6p12.
Jan Senderek, Tomáš Seeman, Carsten Bergmann   +2 more
exaly   +2 more sources

Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations

American Journal of Medical Genetics, Part A, 2015
International audienceDuctal plate malformations (DPM) present with a wide phenotypic spectrum comprising Von Meyenburg complexes (VMC), Caroli disease (CD), Caroli syndrome (CS), and autosomal recessive polycystic kidney disease (ARPKD).
Julien Thevenon, Boris Guiu, Nadege Gigot   +2 more
exaly   +2 more sources