Results 11 to 20 of about 2,524,364 (180)

Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease [PDF]

Case Reports in Genetics, 2014
We report a 29-year-old gravida 2, para 0100, who presented at 19 weeks and 4 days of gestation for ultrasound to assess fetal anatomy. Routine midtrimester fetal anatomy ultrasound revealed enlarged, hyperechoic fetal kidneys and normal amniotic fluid ...
Pankaj Thakur, Paul Speer, Aleksandar Rajkovic   +2 more
doaj   +10 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   +3 more sources

Effect of crocin on PKHD1 and KLLN genes expression in kidney tissue of female rats treated with cadmium [PDF]

International Journal of Medical and Surgical Sciences, 2020
According to data from studies, antioxidant herbal compounds are, likely to have a useful role in reducing the harmful effects of environmental pollutants and toxic chemicals that most people are exposed to. Cadmium is one of the toxic elements that accumulate in many organs, especially in kidneys. The aim of this study was to investigate the effect of
Akram Mohamdyari, Keshtmand Zahra, Nastaran Asghari Moghadam   +2 more
core   +5 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. One notable aspect of the gene is its unusually complex pattern of splicing. This study shows that mouse
Nagasawa, Y., Matthiesen, S., Onuchic, L., Hou, X., Bergmann, C., Esquivel, E., Senderek, J., Ren, Z., Zeltner, R., Furu, L., Avner, E., Moser, M., Somlo, S., Guay-Woodford, L., Buttner, R., Zerres, K., Germino, G.   +16 more
openaire   +4 more sources

Congenital Hepatic Fibrosis in a Purebred Spanish Horse Foal: Pathology and Genetic Studies on PKHD1 Gene Mutations [PDF]

Veterinary Pathology, 2018
A 1-month-old Purebred Spanish Horse (PSH) foal presented with progressive hepatic failure culminating in death. Hepatic lesions were consistent with congenital hepatic fibrosis (CHF). Genetic studies in the PKHD1 gene in the affected foal revealed that it was heterozygous for the 2 previously described single-nucleotide polymorphisms (SNPs) linked to ...
Jéssica, Molín, Javier, Asín, Arantzazu, Vitoria, Arianne, Sanz, Marina, Gimeno, Antonio, Romero, Javier, Sánchez, Pedro, Pinczowski, Francisco J, Vázquez, Clementina, Rodellar, Lluís, Luján   +10 more
openaire   +3 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   +2 more sources

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   +2 more sources

Role of the Hepatocyte Nuclear Factor-1β (HNF-1β) C-terminal Domain in Pkhd1 (ARPKD) Gene Transcription and Renal Cystogenesis [PDF]

Journal of Biological Chemistry, 2005
Hepatocyte nuclear factor-1beta (HNF-1beta) is a homeodomain-containing transcription factor that regulates tissue-specific gene expression in the kidney and other epithelial organs. Mutations of HNF-1beta produce congenital cystic abnormalities of the kidney, and previous studies showed that HNF-1beta regulates the expression of the autosomal ...
Hiesberger, Thomas, Shao, Xinli, Gourley, Eric, Reimann, Andreas, Pontoglio, Marco, Igarashi, Peter   +5 more
openaire   +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   +2 more sources

Clinical utility of an evolving cholestasis gene panel in 10,000 children and adults [PDF]

Frontiers in Pediatrics
ObjectiveCholestasis has diverse causes, with genetic factors playing a key role. Diagnosis is challenging due to varied presentations and overlapping genetic conditions.
Brett J. Hoskins, Tiziano Pramparo, Ethan Gough, Amy Ponte, Rana Dutta, Wikrom Karnsakul   +5 more
doaj   +2 more sources