The molecular basis for cellular function of intrinsically disordered protein regions
Intrinsically disordered protein regions exist in a collection of dynamic interconverting
conformations that lack a stable 3D structure. These regions are structurally heterogeneous …
conformations that lack a stable 3D structure. These regions are structurally heterogeneous …
The role of conformational dynamics and allostery in modulating protein evolution
Advances in sequencing techniques and statistical methods have made it possible not only
to predict sequences of ancestral proteins but also to identify thousands of mutations in the …
to predict sequences of ancestral proteins but also to identify thousands of mutations in the …
[HTML][HTML] Widespread macromolecular interaction perturbations in human genetic disorders
How disease-associated mutations impair protein activities in the context of biological
networks remains mostly undetermined. Although a few renowned alleles are well …
networks remains mostly undetermined. Although a few renowned alleles are well …
Evolutionary divergence of HLA class I genotype impacts efficacy of cancer immunotherapy
Functional diversity of the highly polymorphic human leukocyte antigen class I (HLA-I) genes
underlies successful immunologic control of both infectious disease and cancer. The …
underlies successful immunologic control of both infectious disease and cancer. The …
The human gene mutation database: 2008 update
PD Stenson, M Mort, EV Ball, K Howells, AD Phillips… - Genome medicine, 2009 - Springer
Abstract The Human Gene Mutation Database (HGMD®) is a comprehensive core collection
of germline mutations in nuclear genes that underlie or are associated with human inherited …
of germline mutations in nuclear genes that underlie or are associated with human inherited …
Genome-wide parallelism underlies contemporary adaptation in urban lizards
Urbanization drastically transforms landscapes, resulting in fragmentation, degradation, and
the loss of local biodiversity. Yet, urban environments also offer opportunities to observe …
the loss of local biodiversity. Yet, urban environments also offer opportunities to observe …
Assessing the evolutionary impact of amino acid mutations in the human genome
AR Boyko, SH Williamson, AR Indap… - PLoS …, 2008 - journals.plos.org
Quantifying the distribution of fitness effects among newly arising mutations in the human
genome is key to resolving important debates in medical and evolutionary genetics. Here …
genome is key to resolving important debates in medical and evolutionary genetics. Here …
Edgetic perturbation models of human inherited disorders
Q Zhong, N Simonis, QR Li, B Charloteaux… - Molecular systems …, 2009 - embopress.org
Cellular functions are mediated through complex systems of macromolecules and
metabolites linked through biochemical and physical interactions, represented in …
metabolites linked through biochemical and physical interactions, represented in …
Mutations in disordered regions can cause disease by creating dileucine motifs
Many disease-causing missense mutations affect intrinsically disordered regions (IDRs) of
proteins, but the molecular mechanism of their pathogenicity is enigmatic. Here, we employ …
proteins, but the molecular mechanism of their pathogenicity is enigmatic. Here, we employ …
28-way vertebrate alignment and conservation track in the UCSC Genome Browser
This article describes a set of alignments of 28 vertebrate genome sequences that is
provided by the UCSC Genome Browser. The alignments can be viewed on the Human …
provided by the UCSC Genome Browser. The alignments can be viewed on the Human …