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 …
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
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) …
at each position in a genome will influence fitness. These'fitness consequence'(fitCons) …
[HTML][HTML] Phylogenetic shadowing and computational identification of human microRNA genes
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 …
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 …
phylogenetic relationships, annotating genes, and detecting functional regulatory elements …
EPHA2 Is Associated with Age-Related Cortical Cataract in Mice and Humans
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 …
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 …
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 …
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 …
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 …
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 …
mismatch repair. Mutations in either hMSH2 or hMLH1 underlie the majority of HNPCC …