Results 1 to 10 of about 3,912 (211)

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   +8 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   +6 more sources

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

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   +5 more sources

Generation of an induced pluripotent stem cell line (DHMCi007-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a homozygous missense mutation in the fibrocystin-encoding PKHD1 gene

Stem Cell Research, 2021
Autosomal recessive polycystic kidney disease (ARPKD) is a severe pediatric kidney disorder primarily caused by mutations in the fibrocystin-encoding PKHD1 gene.
Mansoureh Tabatabaeifar, Theresa Leonie Fluhr, Hanna Syring, Gudrun Göhring, Franz Schaefer, Sabine Jung-Klawitter   +5 more
doaj   +2 more sources

Generation of an induced pluripotent stem cell line (DHMCi006-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a compound heterozygous missense mutation in the fibrocystin encoding PKHD1 gene

Stem Cell Research, 2021
Mutations in the PKHD1 gene, encoding for the ciliary protein fibrocystin, play a major role in the cystogenesis in autosomal recessive polycystic kidney disease (ARPKD), a severe pediatric kidney disorder. Peripheral blood mononuclear cells (PBMCs) from
Theresa Leonie Fluhr, Mansoureh Tabatabaeifar, Hanna Syring, Gudrun Göhring, Franz Schaefer, Sabine Jung-Klawitter   +5 more
doaj   +2 more sources

Case Report: An atypical case of ARPKD highlights the utility and challenges of implementing genetic testing in cystic kidney disease [PDF]

Frontiers in Pediatrics
BackgroundBiallelic pathogenic variants in PKHD1 cause a highly heterogenous disease, predominantly involving the kidneys and liver. Although the correlation between genotype and phenotype remains unclear, many variants in this gene have been described ...
Jonathan Marquez, Jonathan Marquez, Lauren M. Hawkins, Anita E. Beck, Katrina M. Dipple, Katrina M. Dipple, Katrina M. Dipple, Ian A. Glass, Ian A. Glass, Alexandra C. Keefe, Elizabeth D. Nguyen, Elizabeth D. Nguyen   +11 more
doaj   +2 more sources

Pathogenic relationship between phenotypes of ARPKD and novel compound heterozygous mutations of PKHD1 [PDF]

Frontiers in Genetics
BackgroundTo investigate whether the novel mutation of PKHD1 could cause polycystic kidney disease by affecting splicing with a recessive inheritance pattern.MethodsA nonconsanguineous Chinese couple with two recurrent pregnancies showed fetal enlarged ...
Xinrong Zhang, Xinrong Zhang, Xinrong Zhang, Jiebin Wu, Jiebin Wu, Jianteng Zhou, Jie Liang, Jie Liang, Jie Liang, Yu Han, Yu Han, Yu Han, Yunmeng Qi, Yunmeng Qi, Yunmeng Qi, Tao Zhu, Dejian Yuan, Zuobin Zhu, Zuobin Zhu, Jingfang Zhai, Jingfang Zhai, Jingfang Zhai, Jingfang Zhai   +22 more
doaj   +2 more sources

Multi-omics analysis of host-microbiome interactions in a mouse model of congenital hepatic fibrosis [PDF]

BMC Microbiology
Background Congenital hepatic fibrosis (CHF) caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene is a rare genetic disorder with poorly understood pathogenesis.
Mengfan Jiao, Ye Sun, Zixing Dai, Xiaoxue Hou, Xizhi Yin, Qingling Chen, Rui Liu, Yuwen Li, Chuanlong Zhu   +8 more
doaj   +2 more sources