DNAJC17 is localized in nuclear speckles and interacts with splicing machinery components

DNAJC17 is a heat shock protein (HSP40) family member, identified in mouse as susceptibility gene for congenital hypothyroidism. DNAJC17 knockout mouse embryos die prior to implantation. In humans, germline homozygous mutations in DNAJC17 have been found in syndromic retinal dystrophy patients, whil...

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發表在:Sci Rep
Main Authors: Pascarella, A., Ferrandino, G., Credendino, S. C., Moccia, C., D’Angelo, F., Miranda, B., D’Ambrosio, C., Bielli, P., Spadaro, O., Ceccarelli, M., Scaloni, A., Sette, C., De Felice, M., De Vita, G., Amendola, E.
格式: Artigo
語言:Inglês
出版: Nature Publishing Group UK 2018
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Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5958099/
https://ncbi.nlm.nih.gov/pubmed/29773831
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-26093-1
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