Proteins: Structure, Function, and BioinformaticsVolume 89, Issue 7 p. C1-C1 ISSUE INFORMATION - COVER IMAGEFree Access Cover Image, Volume First published: 03 June 2021 https://doi.org/10.1002/prot.25928AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text full-text accessPlease review our Terms Conditions of Use check box below sha...

Bardet-Biedl syndrome (BBS) is a syndromic form of retinal degeneration. Recently, homozygosity mapping with a consanguineous family with isolated retinitis pigmentosa identified a missense mutation in BBS3, a known BBS gene. The mutation in BBS3 encodes a single amino acid change at position 89 from alanine to valine. Since this amino acid is conserved in a wide range of vertebrates, we utiliz...

CONTEXT In hereditary cancer syndrome families with an identified cancer associated mutation, mutation testing changes the carrier risk status of the tested person and may change the carrier risk status of relatives. OBJECTIVE This study aimed to describe the change in the distribution of carrier risk status resulting from testing in hereditary breast-ovarian cancer (HBOC) and hereditary non-...

General strategies to obtain inactive kinases have utilized mutation of key conserved residues in the kinase core, and the equivalent Lys72 in cAMP-dependent kinase has often been used to generate a "dead" kinase. Here, we have analyzed the consequences of this mutation on kinase structure and function. Mutation of Lys72 to histidine (K72H) generated an inactive enzyme, which was unphosphorylat...

Background: Mutation in NPM1 gene has been reported to be the most common genetic mutation in de novo acute myeloid leukemia (AML). AML with NPM1 gene mutation usually presents with higher initial leukocyte and blast cell counts and negative CD34 expression. We aimed to investigate the difference of initial leukocyte counts, bone marrow blast cell counts and expression of CD34 among patients wi...

The genetic factors that predispose to Alzheimer's disease (AD) are heterogeneous. Two recent reports have suggested that a mitochondrial DNA mutation within the tRNAGln gene, located at position 4336, may be a risk factor for AD, as it was found in 10/256 (3.9%) cases with AD confirmed by necropsy. Although low prevalences of this mutation were detected in non-demented subjects in both of thes...