Works Published in 2012
Displaying all 6 works
Sorted by most recent date added to the index first, which may not be the same as publication date order.
2012 journal article
Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis
Nature Genetics, 44(8), 886–889.
MeSH headings : Adolescent; Age of Onset; Child; Child, Preschool; Cystic Fibrosis / complications; Cystic Fibrosis / genetics; Dynactin Complex; Exome; Gene Frequency; Humans; Infant; Infant, Newborn; Linkage Disequilibrium; Microtubule-Associated Proteins / genetics; Phenotype; Polymorphism, Single Nucleotide; Pseudomonas Infections / etiology; Pseudomonas Infections / genetics; Pseudomonas aeruginosa
TL;DR:
An extreme phenotype study design is used to discover that variants in DCTN4, encoding a dynactin protein, are associated with time to first P. aeruginosa airway infection, chronic P.aerug inosa infection and mucoid P. AerugInosa in individuals with cystic fibrosis.
(via Semantic Scholar)
europepmc.org (repository)
Source: Crossref
Added: August 28, 2020
2012 journal article
Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis
Nature Genetics, 44(5), 562–569.
MeSH headings : Amino Acid Transport Systems; Amino Acid Transport Systems, Neutral / genetics; Antiporters / genetics; Cell Membrane / metabolism; Cystic Fibrosis / genetics; Cystic Fibrosis Transmembrane Conductance Regulator / genetics; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Humans; Ileus / genetics; Intestinal Obstruction / etiology; Meconium; Polymorphism, Single Nucleotide / genetics; Sodium-Hydrogen Exchanger 3; Sodium-Hydrogen Exchangers / genetics; Sulfate Transporters
TL;DR:
It is suggested that modulating activities of apical membrane constituents could complement current therapeutic paradigms for cystic fibrosis and provide evidence of association between meconium ileus and multiple genes encoding constituents of the apical plasma membrane where CFTR resides.
(via Semantic Scholar)
Source: Crossref
Added: August 28, 2020
2012 journal article
Supplementary material for: Empirical Pathway Analysis, Without Permutation
Source: ORCID
Added: October 7, 2019
2012 journal article
Simple and accurate trend tests using a permutation approximation
Source: ORCID
Added: October 7, 2019
2012 journal article
Quantitative high-throughput screening for chemical toxicity in a population-based in vitro model
Toxicological Sciences.
Source: ORCID
Added: October 7, 2019
2012 journal article
Single Nucleotide Polymorphism (SNP) Detection and Genotype Calling from Massively Parallel Sequencing (MPS) Data
Statistics in Biosciences, 1–23.
Source: ORCID
Added: October 7, 2019
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