Epigenomic signatures in liver and blood of Wilson disease patients include hypermethylation of liver-specific enhancers

BACKGROUND: Wilson disease (WD) is an autosomal recessive disease caused by mutations in ATP7B encoding a copper transporter. Consequent copper accumulation results in a variable WD clinical phenotype involving hepatic, neurologic, and psychiatric symptoms, without clear genotype–phenotype correlati...

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Pubblicato in:Epigenetics Chromatin
Autori principali: Mordaunt, Charles E., Kieffer, Dorothy A., Shibata, Noreene M., Członkowska, Anna, Litwin, Tomasz, Weiss, Karl-Heinz, Zhu, Yihui, Bowlus, Christopher L., Sarkar, Souvik, Cooper, Stewart, Wan, Yu-Jui Yvonne, Ali, Mohamed R., LaSalle, Janine M., Medici, Valentina
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2019
Soggetti:
Research
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6357467/
https://ncbi.nlm.nih.gov/pubmed/30709419
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13072-019-0255-z
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