Protein bioinformatics databases and resources

C Chen, H Huang, CH Wu - … : from protein modifications and networks to …, 2017 - Springer
Many publicly available data repositories and resources have been developed to support
protein-related information management, data-driven hypothesis generation, and biological …

Towards precision medicine: advances in computational approaches for the analysis of human variants

TA Peterson, E Doughty, MG Kann - Journal of molecular biology, 2013 - Elsevier
Variations and similarities in our individual genomes are part of our history, our heritage,
and our identity. Some human genomic variants are associated with common traits such as …

Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models

HA Shihab, J Gough, DN Cooper, PD Stenson… - Human …, 2013 - Wiley Online Library
The rate at which nonsynonymous single nucleotide polymorphisms (ns SNP s) are being
identified in the human genome is increasing dramatically owing to advances in whole …

GWASdb v2: an update database for human genetic variants identified by genome-wide association studies

MJ Li, Z Liu, P Wang, MP Wong, MR Nelson… - Nucleic acids …, 2016 - academic.oup.com
Genome-wide association studies (GWASs), now as a routine approach to study single-
nucleotide polymorphism (SNP)-trait association, have uncovered over ten thousand …

Pan-cancer analysis of mutation hotspots in protein domains

ML Miller, E Reznik, NP Gauthier, BA Aksoy, A Korkut… - Cell systems, 2015 - cell.com
In cancer genomics, recurrence of mutations in independent tumor samples is a strong
indicator of functional impact. However, rare functional mutations can escape detection by …

SLC transporters as a novel class of tumour suppressors: identity, function and molecular mechanisms

YD Bhutia, E Babu, S Ramachandran… - Biochemical …, 2016 - portlandpress.com
The role of plasma membrane transporters in cancer is receiving increasing attention in
recent years. Several transporters for essential nutrients are up-regulated in cancer and …

Bi-allelic mutations in PKD1L1 are associated with laterality defects in humans

F Vetrini, LCA D'Alessandro, ZC Akdemir… - The American Journal of …, 2016 - cell.com
Disruption of the establishment of left-right (LR) asymmetry leads to situs anomalies ranging
from situs inversus totalis (SIT) to situs ambiguus (heterotaxy). The genetic causes of …

[HTML][HTML] Human COQ10A and COQ10B are distinct lipid-binding START domain proteins required for coenzyme Q function

HS Tsui, NVB Pham, BR Amer, MC Bradley… - Journal of lipid …, 2019 - Elsevier
Coenzyme Q (CoQ or ubiquinone) serves as an essential redox-active lipid in respiratory
electron and proton transport during cellular energy metabolism. CoQ also functions as a …

Chapter 15: disease gene prioritization

Y Bromberg - PLoS computational biology, 2013 - journals.plos.org
Disease-causing aberrations in the normal function of a gene define that gene as a disease
gene. Proving a causal link between a gene and a disease experimentally is expensive and …

Bioinformatics for personal genome interpretation

E Capriotti, NL Nehrt, MG Kann… - Briefings in …, 2012 - academic.oup.com
An international consortium released the first draft sequence of the human genome 10 years
ago. Although the analysis of this data has suggested the genetic underpinnings of many …