Results 1 to 10 of about 2,524,364 (180)

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   +13 more sources

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

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   +6 more sources

Deletion of ARPKD-associated Pkhd1 gene in mice results in decreased Tfap2b expression and eye abnormalities [PDF]

Nature Communications
Genome-wide association studies report single nucleotide polymorphisms (SNPs) in the PKHD1-TFAP2B genomic interval are associated with primary open-angle glaucoma (POAG) but do not distinguish the causal gene.
Yu Ishimoto, Luis F. Menezes, Naoki Nakaya, Karla Barbosa-Sabanero, Yukihiro Horie, Teruhiko Yoshida, Jeff M. Reece, Fang Zhou, Stanislav Tomarev, Laura Kerosuo, Gregory G. Germino   +10 more
doaj   +4 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

P-STAT3-dependent SPP1 transcription in cholangiocytes drives hepatic stellate cells activation in congenital hepatic fibrosis [PDF]

Communications Biology
Congenital hepatic fibrosis (CHF) is a rare inherited liver disorder caused by mutations in the polycystic kidney and hepatic disease-1 gene (PKHD1), leading to progressive hepatic fibrosis.
Mengfan Jiao, Ye Sun, Rui Liu, Xizhi Yin, Xiaoxue Hou, Hui Yuan, Zixing Dai, Qingling Chen, Chuanlong Zhu   +8 more
doaj   +2 more sources

Novel compound heterozygous PKHD1 mutations in a Chinese ARPKD pedigree and analysis of genotype-phenotype correlations [PDF]

Frontiers in Medicine
BackgroundAutosomal recessive polycystic kidney disease (ARPKD) is an inherited renal disorder characterized by multiple renal cysts. This study aimed to investigate the pathogenesis of PKHD1 gene variants in a Chinese ARPKD pedigree and elucidate the ...
Jie Zhao, Kang Yu, Yujuan Huang
doaj   +2 more sources

A Rare PKHD1 Frameshift Variant Identified in a Prenatally Diagnosed ARPKD Case From a Consanguineous Jordanian Family. [PDF]

Case Rep Obstet Gynecol
Introduction Polycystic kidney disease (PKD) is a condition that encompasses the development of multiple benign cysts in the kidneys and other organs. Hereditary PKD can be classified as autosomal dominant polycystic kidney disease (ADPKD) or autosomal recessive polycystic disease (ARPKD).
Al-Kuran O, Albadaineh R, Almallah A, Al-Atrash D, Dahbour D, Al-Mehaisen L.   +5 more
europepmc   +2 more sources

Deciphering the Impact of RAC1-SPTAN1 in ARPKD Cystogenesis Using Multifaceted Models. [PDF]

Adv Sci (Weinh)
Distal/connecting tubules expressing SLC8A1 have been suggested as a potential origin of ARPKD cysts. SPTAN1 has been identified as a key molecule in ARPKD cyst formation. Restoring SPTAN1 in PKHD1−/− organoids reduced cyst formation, normalized calcium levels, and decreased RAC1/c‐FOS expression, highlighting SPTAN1's role in ARPKD and the potential ...
Kuraoka S, Higashi Y, Saito S, Pourgonabadi S, Honjoh H, Ishigaki S, Harris PC, Satlin LM, Yamashita M, Morizane R.   +9 more
europepmc   +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

Single-cell RNA sequencing combined with single-cell genome-wide association study identifies SF3B4 as a hub gene in hepatocellular carcinoma progression [PDF]

Discover Oncology
Objective High heterogeneity and poor therapeutic response are major challenges in hepatocellular carcinoma (HCC). This study aimed to identify core hepatocyte subsets and key genes driving HCC progression via a multi-omics approach to inform precise ...
Fujun Ma, Lihong Kang, Zhijian Ren, Yang Yang, Tong Shen, Haibo Yu   +5 more
doaj   +2 more sources