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Point mutation

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

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

Role of the N-terminus for the stability of an amyloid-β fibril with three-fold symmetry

Christian A. Söldner, Heinrich Sticht, Anselm H. C. Horn

Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis

Clévia Rosset, Filippo Vairo, [ ... ], Patricia Ashton-Prolla

The rare nonsense mutation in p53 triggers alternative splicing to produce a protein capable of inducing apoptosis

Evgeny M. Makarov, Tatyana A. Shtam, [ ... ], Michael V. Filatov

CPVT-associated cardiac ryanodine receptor mutation G357S with reduced penetrance impairs Ca²⁺ release termination and diminishes protein expression

Yingjie Liu, Jinhong Wei, [ ... ], S. R. Wayne Chen

Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome

Mallory C. Shields, Matthew R. Bowers, [ ... ], Noreen E. Reist

A single point mutation in a TssB/VipA homolog disrupts sheath formation in the type VI secretion system of Proteus mirabilis

Christina C. Saak, Martha A. Zepeda-Rivera, Karine A. Gibbs

CT characteristics in pulmonary adenocarcinoma with epidermal growth factor receptor mutation

Jing Zhao, Julien Dinkel, [ ... ], Claus Peter Heussel

Whole-genome sequencing of mutants with increased resistance against the two-peptide bacteriocin plantaricin JK reveals a putative receptor and potential docking site

Bie Ekblad, Jon Nissen-Meyer, Tom Kristensen

DUSP5 and DUSP6, two ERK specific phosphatases, are markers of a higher MAPK signaling activation in BRAF mutated thyroid cancers

Camille Buffet, Karine Hecale-Perlemoine, [ ... ], Lionel Groussin

Translating natural genetic variation to gene expression in a computational model of the Drosophila gap gene regulatory network

Vitaly V. Gursky, Konstantin N. Kozlov, [ ... ], Maria G. Samsonova

Dissection of mammalian orthoreovirus µ2 reveals a self-associative domain required for binding to microtubules but not to factory matrix protein µNS

Catherine Eichwald, Jonghwa Kim, Max L. Nibert

Identification of a novel GJA3 mutation in a large Chinese family with congenital cataract using targeted exome sequencing

Yihua Yao, Xuedong Zheng, [ ... ], Yihua Zhu

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