Results 1 to 10 of about 3,318 (192)

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   +11 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   +9 more sources

Minigene-based splice assays provide new insights on intronic variants of the PKHD1 gene [PDF]

Human Genomics
Background Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare hereditary disorder caused by variants in PKHD1. Currently, aberrant splicing has been reported to play important roles in genetic disease.
Yiyin Zhang, Ran Zhang, Xiaomeng Shi, Xuyan Liu, Changying Li, Yan Zhang, Zhi Wang, Dan Qiao, Fengjiao Pan, Bingying Zhang, Ning Xu, Bingzi Dong, Leping Shao   +12 more
doaj   +5 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.
Asghari Moghadam, Nastaran, Mohamdyari, Akram, zahra, keshtmand   +2 more
core   +6 more sources

Transcription factor Ap2b regulates the mouse autosomal recessive polycystic kidney disease genes, Pkhd1 and Cys1 [PDF]

Frontiers in Molecular Biosciences, 2023
Transcription factor Ap2b (TFAP2B), an AP-2 family transcription factor, binds to the palindromic consensus DNA sequence, 5′-GCCN3-5GGC-3’. Mice lacking functional Tfap2b gene die in the perinatal or neonatal period with cystic dilatation of the kidney ...
Maoqing Wu, Naoe Harafuji, Amber K. O’Connor, Ljubica Caldovic, Ljubica Caldovic, Lisa M. Guay-Woodford, Lisa M. Guay-Woodford   +6 more
doaj   +4 more sources

Identification of Two Novel Mutations in PKHD1 Gene from Two Families with Polycystic Kidney Disease by Whole Exome Sequencing. [PDF]

Curr Genomics, 2021
Background: Polycystic kidney disease (PKD) is an autosomal recessive disorder resulting from mutations in the PKHD1 gene on chromosome 6 (6p12), a large gene spanning 470 kb of genomic DNA. Objective: The aim of the present study was to report newly identified mutations in the PKHD1 gene in two Iranian families with PKD.
Heidari M, Gharshasbi H, Isazadeh A, Soleyman-Nejad M, Taskhiri MH, Shapouri J, Bolhassani M, Sadighi N, Heidari M.   +8 more
europepmc   +6 more sources

Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes. [PDF]

Clin Exp Nephrol, 2022
Abstract Background Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 gene. The clinical spectrum is often more variable than previously considered.
Ishiko S, Morisada N, Kondo A, Nagai S, Aoto Y, Okada E, Rossanti R, Sakakibara N, Nagano C, Horinouchi T, Yamamura T, Ninchoji T, Kaito H, Hamada R, Shima Y, Nakanishi K, Matsuo M, Iijima K, Nozu K.   +18 more
europepmc   +5 more sources

Distribution and classifications of PKHD1 gene variants in a Turkish population using the next generation sequencing method. [PDF]

Turk J Med Sci
Autosomal recessive polycystic kidney disease is an inherited kidney disease. This study aims to detect rare and common DNA variants of the PKHD1 gene using next-generation sequencing (NGS) and to classify them in terms of being pathogenic according to The American College of Medical Genetics and Genomics.NGS analysis was performed on the DNA of 304 ...
Gezgin Y, Kirnaz B, Baylarov R, Berdeli A.   +3 more
europepmc   +5 more sources

The PKHD1 gene inhibits tumor proliferation and invasion in intrahepatic cholangiocarcinoma by activating the Notch pathway. [PDF]

Int J Med Sci
Background: Intrahepatic cholangiocarcinoma (ICC), one type of highly malignant tumor, has a poor prognosis. However, the specific role of the polycystic kidney and hepatic disease 1 (PKHD1) gene in ICC has not yet been evaluated. This study aimed to investigate the potential function and mechanism of the PKHD1 gene in ICC.
Shang T, Chen X, Xue H, Wu Y, Lin S, Zhu Y.   +5 more
europepmc   +3 more sources

Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the PKHD1 gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramnios. [PDF]

Clin Case Rep, 2023
AbstractWe present a fetus with bilaterally enlarged and echogenic kidneys. Prenatal testing detected compound heterozygosity for a 0.676 Mb de novo deletion and an inherited pathogenic variant in PKHD1. This is the first case of autosomal recessive polycystic kidney disease (ARPKD) with a prenatally detected disease‐causing PKHD1 deletion.
Sakyu T, Stover SR, Wang Y, Ward P, Gandhi M, Braun MC, Van den Veyver IB, Bi W.   +7 more
europepmc   +6 more sources