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Point mutation

Evolution-guided adaptation of an adenylation domain substrate specificity to an unusual amino acid

Simon Vobruba, Stanislav Kadlcik, Radek Gazak, Jiri Janata

Actionable mutations in canine hemangiosarcoma

Guannan Wang, Ming Wu, [ ... ], David B. Roth

A common mechanism by which type 2A von Willebrand disease mutations enhance ADAMTS13 proteolysis revealed with a von Willebrand factor A2 domain FRET construct

Christopher J. Lynch, Adam D. Cawte, [ ... ], David A. Lane

Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: A study across multiple lineages with diagnostic implications

Rachel A. Queen, Jannetta S. Steyn, Phillip Lord, Joanna L. Elson

Age of heart disease presentation and dysmorphic nuclei in patients with LMNA mutations

Jason Q. Core, Mehrsa Mehrabi, [ ... ], Anna Grosberg

A computational approach for designing D-proteins with non-canonical amino acid optimised binding affinity

Michael Garton, Maryam Sayadi, Philip M. Kim

Pofut1 point-mutations that disrupt O-fucosyltransferase activity destabilize the protein and abolish Notch1 signaling during mouse somitogenesis

Rieko Ajima, Emiko Suzuki, Yumiko Saga

Non-small cell lung cancer (NSCLC), EGFR downstream pathway activation and TKI targeted therapies sensitivity: Effect of the plasma membrane-associated NEU3

Matilde Forcella, Monica Oldani, [ ... ], Milo Frattini

Inhibition of human cytomegalovirus immediate early gene expression and growth by a novel RNase P ribozyme variant

Xu Sun, Weijie Chen, [ ... ], Fenyong Liu

Viral infection upregulates myostatin promoter activity in orange-spotted grouper (Epinephelus coioides)

Yi-Tien Chen, Chao-Fen Lin, [ ... ], Tzong-Yueh Chen

Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features

Elena Pardi, Simona Borsari, [ ... ], Filomena Cetani

The effect of the pathological V72I, D109N and T190M missense mutations on the molecular structure of α-dystroglycan

Sonia Covaceuszach, Manuela Bozzi, [ ... ], Alberto Cassetta

Involvement of the Arg⁵⁶⁶ residue of Aeromonas sobria serine protease in substrate specificity

Hidetomo Kobayashi, Tadamune Otsubo, [ ... ], Hiroyasu Yamanaka

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