Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis

Polycystic livers are seen in the rare inherited disorder isolated polycystic liver disease (PCLD) and are recognized as the most common extrarenal manifestation in autosomal dominant polycystic kidney disease. Hepatic cystogenesis is characterized by progressive proliferation of cholangiocytes, ult...

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Veröffentlicht in:	Proceedings of the National Academy of Sciences - PNAS 2014-04, Vol.111 (14), p.5343-5348
Hauptverfasser:	Cnossen, Wybrich R., te Morsche, René H. M., Hoischen, Alexander, Gilissen, Christian, Chrispijn, Melissa, Venselaar, Hanka, Mehdi, Soufi, Bergmann, Carsten, Veltman, Joris A., Drenth, Joost P. H.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Amino acids Autosomal dominant polycystic kidney autosomal dominant polycystic kidney disease Biological Sciences CHO cells Cohort Studies Cysts Cysts - genetics Cysts - metabolism Deoxyribonucleic acid Disorders DNA Exome Female Genes genetic disorders Genetic mutation heterozygosity Humans immunohistochemistry Liver Liver diseases Liver Diseases - genetics Liver Diseases - metabolism low density lipoprotein Low Density Lipoprotein Receptor-Related Protein-5 - genetics Male Middle Aged missense mutation mutants Mutation pathophysiology patients Pedigree penetrance Polycystic kidney diseases Polymorphism, Single Nucleotide Proteins screening sequence analysis Sequencing Signal Transduction single nucleotide polymorphism Wnt Proteins - metabolism
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