Priorities and standards in pharmacogenetic research

AC Need, AG Motulsky, DB Goldstein - Nature genetics, 2005 - nature.com
The current enthusiasm for pharmacogenetics draws much of its inspiration from the
relatively few examples of polymorphisms that have marked and seemingly clinically …

A method for calculating probabilities of fitness consequences for point mutations across the human genome

B Gulko, MJ Hubisz, I Gronau, A Siepel - Nature genetics, 2015 - nature.com
We describe a new computational method for estimating the probability that a point mutation
at each position in a genome will influence fitness. These'fitness consequence'(fitCons) …

[HTML][HTML] Phylogenetic shadowing and computational identification of human microRNA genes

E Berezikov, V Guryev, J van de Belt, E Wienholds… - Cell, 2005 - cell.com
We sequenced 122 miRNAs in 10 primate species to reveal conservation characteristics of
miRNA genes. Strong conservation is observed in stems of miRNA hairpins and increased …

Mulan: multiple-sequence local alignment and visualization for studying function and evolution

I Ovcharenko, GG Loots, BM Giardine, M Hou… - Genome …, 2005 - genome.cshlp.org
Multiple-sequence alignment analysis is a powerful approach for understanding
phylogenetic relationships, annotating genes, and detecting functional regulatory elements …

EPHA2 Is Associated with Age-Related Cortical Cataract in Mice and Humans

G Jun, H Guo, BEK Klein, R Klein, JJ Wang… - PLoS …, 2009 - journals.plos.org
Age-related cataract is a major cause of blindness worldwide, and cortical cataract is the
second most prevalent type of age-related cataract. Although a significant fraction of age …

Global analysis of exon creation versus loss and the role of alternative splicing in 17 vertebrate genomes

AV Alekseyenko, N Kim, CJ Lee - Rna, 2007 - rnajournal.cshlp.org
Association of alternative splicing (AS) with accelerated rates of exon evolution in some
organisms has recently aroused widespread interest in its role in evolution of eukaryotic …

LEM2 is a novel MAN1-related inner nuclear membrane protein associated with A-type lamins

A Brachner, S Reipert, R Foisner… - Journal of cell …, 2005 - journals.biologists.com
The LEM (lamina-associated polypeptide–emerin–MAN1) domain is a motif shared by a
group of lamin-interacting proteins in the inner nuclear membrane (INM) and in the …

Th2 cell-selective enhancement of human IL13 transcription by IL13-1112C> T, a polymorphism associated with allergic inflammation

L Cameron, RB Webster, JM Strempel… - The Journal of …, 2006 - journals.aai.org
IL-13 is a central mediator of allergic inflammation. The single nucleotide polymorphism IL13-
1112C> T (rs1800925) is associated with allergic phenotypes in ethnically distinct …

Assembly and egress of an alphaherpesvirus clockwork

GA Smith - Cell Biology of Herpes Viruses, 2017 - Springer
All viruses produce infectious particles that possess some degree of stability in the
extracellular environment yet disassemble upon cell contact and entry. For the …

Functional Characterization of Pathogenic Human MSH2 Missense Mutations in Saccharomyces cerevisiae

AE Gammie, N Erdeniz, J Beaver, B Devlin, A Nanji… - Genetics, 2007 - academic.oup.com
Hereditary nonpolyposis colorectal cancer (HNPCC) is associated with defects in DNA
mismatch repair. Mutations in either hMSH2 or hMLH1 underlie the majority of HNPCC …