The molecular basis for cellular function of intrinsically disordered protein regions

AS Holehouse, BB Kragelund - Nature Reviews Molecular Cell Biology, 2024 - nature.com
Intrinsically disordered protein regions exist in a collection of dynamic interconverting
conformations that lack a stable 3D structure. These regions are structurally heterogeneous …

The role of conformational dynamics and allostery in modulating protein evolution

P Campitelli, T Modi, S Kumar… - Annual review of …, 2020 - annualreviews.org
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 …

[HTML][HTML] Widespread macromolecular interaction perturbations in human genetic disorders

N Sahni, S Yi, M Taipale, JIF Bass… - Cell, 2015 - cell.com
How disease-associated mutations impair protein activities in the context of biological
networks remains mostly undetermined. Although a few renowned alleles are well …

Evolutionary divergence of HLA class I genotype impacts efficacy of cancer immunotherapy

D Chowell, C Krishna, F Pierini, V Makarov, NA Rizvi… - Nature medicine, 2019 - nature.com
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 …

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 …

Genome-wide parallelism underlies contemporary adaptation in urban lizards

KM Winchell, SC Campbell-Staton… - Proceedings of the …, 2023 - National Acad Sciences
Urbanization drastically transforms landscapes, resulting in fragmentation, degradation, and
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 …

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 …

Mutations in disordered regions can cause disease by creating dileucine motifs

K Meyer, M Kirchner, B Uyar, JY Cheng, G Russo… - Cell, 2018 - cell.com
Many disease-causing missense mutations affect intrinsically disordered regions (IDRs) of
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

W Miller, K Rosenbloom, RC Hardison, M Hou… - Genome …, 2007 - genome.cshlp.org
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 …