Deletion of ARPKD-associated Pkhd1 gene in mice results in decreased Tfap2b expression and eye abnormalities [PDF]
Nature CommunicationsGenome-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 +10 more
doaj +3 more sources
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 ...
Amber K O'Connor +2 more
exaly +4 more sources
Deciphering the Impact of RAC1‐SPTAN1 in ARPKD Cystogenesis Using Multifaceted Models [PDF]
Advanced ScienceAutosomal recessive polycystic kidney disease (ARPKD) leads to severe renal cysts and progressive kidney dysfunction, with no approved treatments. The absence of such cystic phenotypes in Pkhd1−/− mice underscores the need for novel models that better ...
Shohei Kuraoka +9 more
doaj +3 more sources
Prenatal diagnosis and molecular characterization of PKHD1 variants in two Chinese fetuses with Caroli disease/syndrome [PDF]
Frontiers in GeneticsBackgroundCaroli disease (CD) and Caroli syndrome (CS) are rare inherited disorders characterized by dilatation of intrahepatic bile ducts, caused by PKHD1 pathogenic variants.
Xinlin Chen
exaly +4 more sources
P-STAT3-dependent SPP1 transcription in cholangiocytes drives hepatic stellate cells activation in congenital hepatic fibrosis [PDF]
Communications BiologyCongenital 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 +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 MedicineBackgroundAutosomal 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
Case Report: An atypical case of ARPKD highlights the utility and challenges of implementing genetic testing in cystic kidney disease [PDF]
Frontiers in PediatricsBackgroundBiallelic 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 +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 OncologyObjective 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 +5 more
doaj +2 more sources
Multi-omics analysis of host-microbiome interactions in a mouse model of congenital hepatic fibrosis [PDF]
BMC MicrobiologyBackground 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 +8 more
doaj +2 more sources
Advances in Human Biology, 2023 Introduction: Obesity is primarily caused by the dysfunction of the energy homeostasis system. Numerous studies have reported an association between obesity and the rs17782313 variant near the melanocortin-4 receptor (MC4R) gene.
Yasaman Ansari +5 more
doaj +1 more source