Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease

por Vignogna, Ryan C, Allocca, Mariateresa, Monticelli, Maria, Norris, Joy W, Steet, Richard, Perlstein, Ethan O, Andreotti, Giuseppina, Lang, Gregory I
Publicado 2022

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

por Lee, Yu-Ri, Khan, Kamal, Armfield-Uhas, Kim, Srikanth, Sujata, Thompson, Nicola A., Pardo, Mercedes, Yu, Lu, Norris, Joy W., Peng, Yunhui, Gripp, Karen W., Aleck, Kirk A., Li, Chumei, Spence, Ed, Choi, Tae-Ik, Kwon, Soo Jeong, Park, Hee-Moon, Yu, Daseuli, Heo, Won Do, Mooney, Marie R., Baig, Shahid M., Wentzensen, Ingrid M., Telegrafi, Aida, McWalter, Kirsty, Moreland, Trevor, Roadhouse, Chelsea, Ramsey, Keri, Lyons, Michael J., Skinner, Cindy, Alexov, Emil, Katsanis, Nicholas, Stevenson, Roger E., Choudhary, Jyoti S., Adams, David J., Kim, Cheol-Hee, Davis, Erica E., Schwartz, Charles E.
Publicado 2020