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Mutation

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

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

Why patients with THBD c.1611C>A (p.Cys537X) nonsense mutation have high levels of soluble thrombomodulin?

Yohann Jourdy, Nathalie Enjolras, [ ... ], Yesim Dargaud

Genomic analysis of atypical fibroxanthoma

Kevin Lai, Catherine A. Harwood, [ ... ], Sarah T. Arron

Lack of mitochondrial MutS homolog 1 in Toxoplasma gondii disrupts maintenance and fidelity of mitochondrial DNA and reveals metabolic plasticity

Tamila Garbuz, Gustavo Arrizabalaga

Molecular and epidemiological characterization of carbapenemase-producing Enterobacteriaceae in Norway, 2007 to 2014

Ørjan Samuelsen, Søren Overballe-Petersen, [ ... ], on behalf of The Norwegian Study Group on CPE

Optimized approach for the identification of highly efficient correctors of nonsense mutations in human diseases

Hana Benhabiles, Sara Gonzalez-Hilarion, [ ... ], Fabrice Lejeune

Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage

Shiv Kumar Viswanathan, Heather K. Sanders, [ ... ], Sakthivel Sadayappan

Loss of function JAK1 mutations occur at high frequency in cancers with microsatellite instability and are suggestive of immune evasion

Lee A. Albacker, Jeremy Wu, [ ... ], Juliann Chmielecki

Genomic sequencing identifies a few mutations driving the independent origin of primary liver tumors in a chronic hepatitis murine model

Zuyu Yang, Mingming Jia, [ ... ], Shengdian Wang

Laccase SilA from Streptomyces ipomoeae CECT 3341, a key enzyme for the degradation of lignin from agricultural residues?

Alba Blánquez, Andrew S. Ball, [ ... ], Manuel Hernández

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

Michael Garton, Maryam Sayadi, Philip M. Kim

Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency

Fabrice Rannou, Virginie Scotet, [ ... ], Cédric Le Maréchal

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

Rieko Ajima, Emiko Suzuki, Yumiko Saga

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