Results 11 to 20 of about 93 (50)

Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics

Frontiers in Genetics, 2021
BackgroundAutosomal polycystic kidney disease is distinguished into dominant (ADPKD) and recessive (ARPKD) inheritance usually caused by either monoallelic (PKD1/PKD2) or biallelic (PKHD1) germline variation. Clinical presentations are genotype-dependent
Jonathan de Fallois, Ria Schönauer, Johannes Münch, Mato Nagel, Bernt Popp, Jan Halbritter   +5 more
doaj   +1 more source

Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease.

PLoS ONE, 2014
BackgroundMutations in PKHD1 cause autosomal recessive Caroli disease, which is a rare congenital disorder involving cystic dilatation of the intrahepatic bile ducts.
Xiwei Hao, Shiguo Liu, Qian Dong, Hong Zhang, Jing Zhao, Lin Su   +5 more
doaj   +1 more source

Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles

BMC Nephrology, 2020
Background PKHD1 is the main genetic cause of autosomal recessive polycystic kidney disease (ARPKD), a hereditary hepato-renal fibrocystic disorder which is the most important cause of end-stage renal disease during early childhood.
Elisa Molinari, Shalabh Srivastava, Rebecca M. Dewhurst, John A. Sayer   +3 more
doaj   +1 more source

Review of Potential Significance of Mutations of ADAMTS20, NF1 and PKHD1 Detected Using Next Generation Sequencing (NGS) in Dermal Fibrosarcoma Arising in Dermatofibrosarcoma Protuberans [PDF]

Folia Medica, 2020
We examined a status of fibrosarcoma arising in dermatofibrosarcoma protuberans of 64-year-old male patient. A dermal, solid, grayish-yellow, desmin-negative trichrome-bluish tumor measured 1.5 cm in diameter pT1a (edition 8 pTNM).
Artur Kowalik, Andrzej Wincewicz, Sebastian Zięba, Janusz Kopczynski, Mariusz Koda, Stanisław Sulkowski, Luiza Kańczuga-Koda, Stanisław Góźdź   +7 more
doaj   +3 more sources

The tyrosine-kinase inhibitor Nintedanib ameliorates autosomal-dominant polycystic kidney disease

Cell Death and Disease, 2021
Autosomal-dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease and is characterized by progressive growth of fluid-filled cysts. Growth factors binding to receptor tyrosine kinases (RTKs) stimulate cell proliferation and
Abeda Jamadar, Sreenath M. Suma, Sijo Mathew, Timothy A. Fields, Darren P. Wallace, James P. Calvet, Reena Rao   +6 more
doaj   +1 more source

Imaging manifestations of Caroli disease with autosomal recessive polycystic kidney disease: a case report and literature review

BMC Pregnancy and Childbirth, 2021
Background Both Caroli disease (CD) and autosomal recessive polycystic kidney disease (ARPKD) are autosomal recessive disorders, which are more commonly found in infants and children, for whom surviving to adulthood is rare.
Xiuzhen Yao, Weiqun Ao, Jianhua Fang, Guoqun Mao, Chuanghua Chen, Lifang Yu, Huaijie Cai, Chenke Xu   +7 more
doaj   +1 more source

NEDD4-family E3 ligase dysfunction due to PKHD1/Pkhd1 defects suggests a mechanistic model for ARPKD pathobiology

Scientific Reports, 2017
Autosomal recessive polycystic kidney disease (ARPKD) is an important childhood nephropathy, occurring 1 in 20,000 live births. The major clinical phenotypes are expressed in the kidney with dilatation of the collecting ducts, systemic hypertension, and ...
Jun-ya Kaimori, Cheng-Chao Lin, Patricia Outeda, Miguel A. Garcia-Gonzalez, Luis F. Menezes, Erum A. Hartung, Ao Li, Guanqing Wu, Hideaki Fujita, Yasunori Sato, Yasuni Nakanuma, Satoko Yamamoto, Naotsugu Ichimaru, Shiro Takahara, Yoshitaka Isaka, Terry Watnick, Luiz F. Onuchic, Lisa M. Guay-Woodford, Gregory G. Germino   +18 more
doaj   +1 more source

Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman

BMC Nephrology, 2020
Background There is a high prevalence of rare genetic disorders in the Middle East, and their study provides unique clinical and genetic insights. Autosomal recessive polycystic kidney disease (ARPKD) is one of the leading causes of kidney and liver ...
Intisar Al Alawi, Elisa Molinari, Issa Al Salmi, Fatma Al Rahbi, Adhra Al Mawali, John A. Sayer   +5 more
doaj   +1 more source

Rare variants in PKHD1 associated with Caroli syndrome: Two case reports

Molecular Genetics & Genomic Medicine, 2022
Background Caroli disease (CD, OMIM #600643) is a rare autosomal recessive disorder characterized by polycystic segmental dilatation of the intrahepatic bile ducts and extreme variability in age of onset and clinical manifestations.
Carola Giacobbe, Fabiola Di Dato, Daniela Palma, Michele Amitrano, Raffaele Iorio, Giuliana Fortunato   +5 more
doaj   +1 more source

Comprehensive characterization of PKHD1 mutation in human colon cancer

Cancer Medicine
Introduction The PKHD1 (Polycystic Kidney and Hepatic Disease 1) gene is essential for producing fibrocystin or polyductin, which is crucial in various cellular functions.
Lu Han, Fangming Gong, Xuxiaochen Wu, Wanxiangfu Tang, Hua Bao, Yue Wang, Daizhenru Wang, Yulan Sun, Peng Li   +8 more
doaj   +1 more source