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Next Generation Sequencing Technologies to Investigate Autosomal Recessive Polycystic Kidney Disease (ARPKD).

GSE242476 Homo sapiens Expression profiling by high throughput sequencing 8 samples Submitted 2024/09/06 Platform GPL24676
Summary
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare paediatric disease primarily caused by mutations in the gene PKHD1. ARPKD presents with considerably clinical variability which is linked to the type of PKHD1 mutation but not position. Animal models of Polycystic Kidney Disease (PKD) suggest there is a complex genetic landscape with genetic modifiers as a potential cause of disease variability. Transcriptomic analysis identified a considerable number of genes linked to cellular metabolism and development. Amongst these genes were those linked to WNT signalling. Two individuals in this cohort had the same mutations in PKHD1 but different rates of kidney disease progression. Amongst the transcriptomic differences of these two individuals were differences in the expression changes of WNT genes.
Published in
Next generation sequencing identifies WNT signalling as a significant pathway in Autosomal Recessive Polycystic Kidney Disease (ARPKD) manifestation and may be linked to disease severity
Richards T, Wilson P, Goggolidou P · Biochimica et biophysica acta. Molecular basis of disease 2024 · PMID 38885798 · doi:10.1016/j.bbadis.2024.167309
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Also filed as BioProject PRJNA1013555 and SRA study SRP458854. Searching any of these in the dataset finder brings you back here.

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