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Atmin modulates Pkhd1 expression and may mediate Autosomal Recessive Polycystic Kidney Disease (ARPKD) through altered non-canonical Wnt/Planar Cell Polarity (PCP) signalling

Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a genetic disorder with an incidence of ~1:20,000 that manifests in a wide range of renal and liver disease severity in human patients and can lead to perinatal mortality. ARPKD is caused by mutations in PKHD1, which encodes the large membrane...

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Detalles Bibliográficos
Autores principales: Richards, Taylor, Modarage, Kavindiya, Dean, Charlotte, McCarthy-Boxer, Aidan, Hilton, Helen, Esapa, Chris, Norman, Jill, Wilson, Patricia, Goggolidou, Paraskevi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6335440/
https://www.ncbi.nlm.nih.gov/pubmed/30414501
http://dx.doi.org/10.1016/j.bbadis.2018.11.003