The R403Q Myosin Mutation Implicated in Familial Hypertrophic Cardiomyopathy Causes Disorder at the Actomyosin Interface

submitted by: apryl
Background Mutations in virtually all of the proteins comprising the cardiac muscle sarcomere have been implicated in causing Familial Hypertrophic Cardiomyopathy (FHC). Mutations in the β-myosin heavy chain (MHC) remain among the most common causes of FHC, with the widely studied R403Q mutation resulting in an especially severe clinical prognosis. In vitro functional studies of cardiac myosin containing the R403Q mutation have revealed significant changes in enzymatic and...
Authors: Dorit Hanein, Larnele Hazelwood, Susan Lowey, HongJun Lui, Kathleen M. Trybus, Niels Volkmann

Reconstruction of Alternative Splice Variants and Associated Abundances from Short Sequence Reads (CSHL Genome Informatics Conference 2008)

submitted by: micha
The FLUX CAPACITOR : next generation sequencing technologies provide an unprecedented capacity for surveying the nucleic acid content of cells. This profound sequencing depth may allow in particular for exhaustively sequencing through the large dyanimc range of RNA abundances in the cell, overcoming limitations imposed by current (random) clone selection approaches. However, the very short reads produced by the most cost-effective such technologies make the reconstruction of complete RNA...

Wiggle—Predicting Functionally Flexible Regions from Primary Sequence

submitted by: jgu
The Wiggle series are support vector machine–based predictors that identify regions of functional flexibility using only protein sequence information. Functionally flexible regions are defined as regions that can adopt different conformational states and are assumed to be necessary for bioactivity. Many advances have been made in understanding the relationship between protein sequence and structure. This work contributes to those efforts by making strides to understand the relationship...
Authors: Jenny Gu, Michael Gribskov, Philip E Bourne