Results 11 to 20 of about 3,398 (180)

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   +4 more sources

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   +4 more sources

Defects of renal tubular homeostasis and cystogenesis in the Pkhd1 knockout

iScience
Summary: Loss of PKHD1-gene function causes autosomal recessive polycystic kidney disease (ARPKD) characterized by bilateral severely enlarged kidneys and congenital liver fibrosis requiring kidney replacement therapy most frequently during childhood ...
Julia C. Fox, Susanne T. Hahnenstein, Fatima Hassan, Andrea Grund, Dieter Haffner, Wolfgang H. Ziegler   +5 more
doaj   +4 more sources

Prenatal Recurrence of Ductal Plate Malformations Leads to PKHD1 Variant Reclassification. [PDF]

Prenat Diagn
ABSTRACT Ductal plate malformations (DPM) encompass a spectrum of congenital liver disorders characterized by abnormal bile duct development, often associated with conditions such as Caroli disease. Variants in the PKHD1 gene cause a wide spectrum of DPM, but genotype–phenotype correlations remain challenging.
Abaji M, Nasca L, Audrezet MP, Gerard B, Vanhoye X, Chau C, D'Ercole C, Levy-Mozziconacci A.   +7 more
europepmc   +5 more sources

Differential regulation of MYC expression by PKHD1/Pkhd1 in human and mouse kidneys: phenotypic implications for recessive polycystic kidney disease

Frontiers in Cell and Developmental Biology, 2023
Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is a severe, hereditary, hepato-renal fibrocystic disorder that leads to early childhood morbidity and mortality. Typical forms of ARPKD are caused by pathogenic variants in the PKHD1 gene,
Naoe Harafuji, Chaozhe Yang, Maoqing Wu, Girija Thiruvengadam, Heather Gordish-Dressman, R. Griffin Thompson, P. Darwin Bell, Avi Z. Rosenberg, Claudia Dafinger, Max C. Liebau, Zsuzsanna Bebok, Ljubica Caldovic, Ljubica Caldovic, Lisa M. Guay-Woodford, Lisa M. Guay-Woodford   +14 more
doaj   +4 more sources

Congenital hepatic fibrosis in the Franches-Montagnes horse is associated with the polycystic kidney and hepatic disease 1 (PKHD1) gene. [PDF]

PLoS ONE, 2014
Congenital hepatic fibrosis has been described as a lethal disease with monogenic autosomal recessive inheritance in the Swiss Franches-Montagnes horse breed.
Michaela Drögemüller, Vidhya Jagannathan, Monika M Welle, Claudia Graubner, Reto Straub, Vinzenz Gerber, Dominik Burger, Heidi Signer-Hasler, Pierre-André Poncet, Stéphane Klopfenstein, Ruedi von Niederhäusern, Jens Tetens, Georg Thaller, Stefan Rieder, Cord Drögemüller, Tosso Leeb   +15 more
doaj   +5 more sources

Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics [PDF]

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   +6 more sources

Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene [PDF]

Journal of the American Society of Nephrology, 2002
PKHD1, the gene mutated in human autosomal recessive polycystic kidney disease has recently been identified. Its translation products are predicted to belong to a superfamily of proteins involved in the regulation of cellular adhesion and repulsion.
Hou, X. Y., Esquivel, E., Guay-Woodford, L., Moser, M., Buttner, R., Nagasawa, Y., Ren, Z. Y., Avner, E., Onuchic, L. F., Zerres, K., Zeltner, R., Furu, L., Bergmann, C., Somlo, S., Senderek, J., Matthiesen, S., Germino, G. G.   +16 more
core   +4 more sources

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   +2 more sources

Epitope-tagged Pkhd1 tracks the processing, secretion, and localization of fibrocystin. [PDF]

Journal of the American Society of Nephrology, 2011
Item does not contain fulltextMutations in the PKHD1 gene, which encodes fibrocystin, cause autosomal recessive polycystic kidney disease (ARPKD). Unfortunately, the lack of specific antibodies to the mouse protein impairs the study of splicing, post ...
Deursen, J.M.A. van, Marie C. Hogan, Jan M. van Deursen, Huang, B.Q., Vicente E. Torres, Ming Li, Hogan, M.C., Bing Q. Huang, Bakeberg, J.L., Rachaneekorn Tammachote, Tuan, H.F., Tammachote, R., Christopher J. Ward, Ward, C.J., Harris, P.C., Jason L. Bakeberg, Peter C. Harris, John R. Woollard, Han-Fang Tuan, Woollard, J.R., Torres, V.E., Wu, Y., Li, M., Yanhong Wu   +23 more
core   +3 more sources