Results 111 to 120 of about 2,524,364 (180)

Autosomal Recessive Polycystic Kidney Disease Confirmed toPKHD1Gene Mutation: A Case ofPKHD1Gene Mutation

Neonatal Medicine, 2014
Jae Eun Baek, Soon Min Lee, Ho Seon Eun, Min Soo Park, Kook In Park, Ran Namgung, Chul Lee   +6 more
openaire   +1 more source

Cholangitis resembling Caroli’s syndrome in a patient with autosomal dominant polycystic kidney disease: Case report

SAGE Open Medical Case Reports
Caroli’s syndrome is a rare autosomal recessive disorder characterized by segmental cystic dilation of the intrahepatic bile ducts and congenital hepatic fibrosis. It is associated with autosomal recessive polycystic kidney disease.
Maha Arkan Khudhair, Rikke Christensen, Anne Skakkebæk, Jakob Grue Graverholt, Anders Bergh Lødrup   +4 more
doaj   +1 more source

Clinical application value of pre‐pregnancy carrier screening in Chinese Han childbearing population

Molecular Genetics & Genomic Medicine
Background To explore the clinical application value of pre‐conception expanded carrier screening (PECS) in the Chinese Han ethnicity population of childbearing age.
Li Tan, Yuefan Qi, Peijuan Zhao, LanLan Cheng, Guo Yu, Dongmei Zhao, Yu Xia Song, Yun Gai Xiang   +7 more
doaj   +1 more source

Studies of mice with a large deletion of the ARPKD-associated Pkhd1 locus likely explain its GWAS association with glaucoma in humans

PKHD1, the gene primarily mutated in human autosomal recessive polycystic kidney disease, is one of the top 20 genes associated with primary open angle glaucoma (POAG) and associated endophenotypes in Genome-Wide Association Studies.
Barbosa, Karla, Tomarev, Stanislav, Menezes, Luis F, Germino, Gregory G., Nakaya, Naoki, Kerosuo, Laura, Yoshida, Teruhiko, Ishimoto, Yu, Reece, Jeff, Horie, Yukihiro, Zhou, Fang   +10 more
core   +1 more source

Quantifying variant contributions in cystic kidney disease using national-scale whole-genome sequencing

The Journal of Clinical Investigation
BACKGROUND Cystic kidney disease (CyKD) is a predominantly familial disease in which gene discovery has been led by family-based and candidate gene studies, an approach that is susceptible to ascertainment and other biases.METHODS Using whole-genome ...
Omid Sadeghi-Alavijeh, Melanie M.Y. Chan, Gabriel T. Doctor, Catalin D. Voinescu, Alexander Stuckey, Athanasios Kousathanas, Alexander T. Ho, Horia C. Stanescu, Detlef Bockenhauer, Richard N. Sandford, Adam P. Levine, Daniel P. Gale   +11 more
doaj   +1 more source

Epithelial cell expansion drives cyst progression in genetic models of autosomal recessive polycystic kidney disease. [PDF]

iScience
Liu S, Chen X, Liu Z, Tang J, Tian H, Peng Y, Mao X, Dai R, Zhao B, Li X, Li L, Luo L, Ma M.   +12 more
europepmc   +1 more source

Congenital hepatic fibrosis and related ciliopathies across the life course: current management, disease burden, and unmet needs in the era of genomic diagnosis and translational therapeutics. [PDF]

Front Pediatr
Wang A, He J, Liu K, Fu J, Chen J.
europepmc   +1 more source

Whole Exome Sequencing Reveals Promising Genes Associated with Congenital Renal Parenchymal Anomalies in Greek Children. [PDF]

Children (Basel)
Zisi A, Kostoulas C, Sesse A, Kosmeri C, Serbis A, Lee H, Georgiou I, Siomou E.   +7 more
europepmc   +1 more source

Delineating the Genetic Basis of RNF213-related vasculopathies: The association of PKHD1 variants with bilateral cerebral vasculopathy. [PDF]

Eur J Hum Genet
Ishigami D, Namba S, Miyawaki S, Mitsui J, Imai H, Shimizu M, Hongo H, Dofuku S, Torazawa S, Teranishi Y, Ohara K, Sakai Y, Shimada D, Ono H, Nakatomi H, Morishita S, Tsuji S, Okada Y, Saito N.   +18 more
europepmc   +1 more source

The clinical complexity of PKHD1 gene: from neonatal lethality to casual diagnosis in late pediatric stages

Anales de Pediatría (English Edition)
Rubio Granda, Ana, Gil Peña, Helena, Rodríguez Márquez, Carlos, Solís Sánchez, Gonzalo, Ordóñez Álvarez, F. A.   +4 more
openaire   +3 more sources