A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism

Ribosomal protein (RP) gene mutations, mostly associated with inherited or acquired bone marrow failure, are believed to drive disease by slowing the rate of protein synthesis. Here de novo missense mutations in the RPS23 gene, which codes for uS12, are reported in two unrelated individuals with mic...

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Vydáno v:Am J Hum Genet
Hlavní autoři: Paolini, Nahuel A., Attwood, Martin, Sondalle, Samuel B., Vieira, Carolina Marques dos Santos, van Adrichem, Anita M., di Summa, Franca M., O’Donohue, Marie-Françoise, Gleizes, Pierre-Emmanuel, Rachuri, Swaksha, Briggs, Joseph W., Fischer, Roman, Ratcliffe, Peter J., Wlodarski, Marcin W., Houtkooper, Riekelt H., von Lindern, Marieke, Kuijpers, Taco W., Dinman, Jonathan D., Baserga, Susan J., Cockman, Matthew E., MacInnes, Alyson W.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2017
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5339345/
https://ncbi.nlm.nih.gov/pubmed/28257692
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.01.034
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