A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis

LN Bull, MJT van Eijk, L Pawlikowska, JA DeYoung… - Nature …, 1998 - nature.com
Cholestasis, or impaired bile flow, is an important but poorly understood manifestation of liver
disease. Two clinically distinct forms of inherited cholestasis, benign recurrent intrahepatic …

[HTML][HTML] Development and implementation of high-throughput SNP genotyping in barley

…, A Kleinhofs, GJ Muehlbauer, J DeYoung… - BMC genomics, 2009 - Springer
Background High density genetic maps of plants have, nearly without exception, made use
of marker datasets containing missing or questionable genotype calls derived from a variety …

Sequence diversity and haplotype structure in the human ABCB1 (MDR1, multidrug resistance transporter) gene

…, SJ Johns, D Stryke, TE Ferrin, J DeYoung… - Pharmacogenetics …, 2003 - journals.lww.com
Objectives There is increasing evidence that polymorphism of the ABCB1 (MDR1) gene
contributes to interindividual variability in bioavailability and tissue distribution of P-glycoprotein …

Evolutionary conservation predicts function of variants of the human organic cation transporter, OCT1

…, M Kawamoto, SJ Johns, J DeYoung… - Proceedings of the …, 2003 - National Acad Sciences
The organic cation transporter, OCT1, is a major hepatic transporter that mediates the
uptake of many organic cations from the blood into the liver where the compounds may be …

[PDF][PDF] Characterization of mutations in ATP8B1 associated with hereditary cholestasis

…, JA Juijn, C Pabón‐Peña, LB Smith, JA DeYoung… - …, 2004 - Wiley Online Library
Progressive familial intrahepatic cholestasis (PFIC) and benign recurrent intrahepatic
cholestasis (BRIC) are clinically distinct hereditary disorders. PFIC patients suffer from chronic …

Natural variation in human membrane transporter genes reveals evolutionary and functional constraints

MK Leabman, CC Huang, J DeYoung… - Proceedings of the …, 2003 - National Acad Sciences
Membrane transporters maintain cellular and organismal homeostasis by importing nutrients
and exporting toxic compounds. Transporters also play a crucial role in drug response, …

Polymorphisms in a human kidney xenobiotic transporter, OCT2, exhibit altered function

…, SJ Johns, D Stryke, TE Ferrin, J DeYoung… - Pharmacogenetics …, 2002 - journals.lww.com
The completion of the Human Genome Project and the development of high-throughput
polymorphism identification methods have allowed researchers to carry out full genetic analyses …

[HTML][HTML] Weighted gene co-expression network analysis of the peripheral blood from Amyotrophic Lateral Sclerosis patients

…, HM Blauw, TF Fuller, P Langfelder, J DeYoung… - BMC genomics, 2009 - Springer
Background Amyotrophic Lateral Sclerosis (ALS) is a lethal disorder characterized by
progressive degeneration of motor neurons in the brain and spinal cord. Diagnosis is mainly …

Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies

S Service, J DeYoung, M Karayiorgou, JL Roos… - Nature …, 2006 - nature.com
The genome-wide distribution of linkage disequilibrium (LD) determines the strategy for
selecting markers for association studies, but it varies between populations. We assayed LD in …

[PDF][PDF] Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on …

RA Ophoff, J DeYoung, M Joosse, NA Caffo… - The American Journal of …, 2001 - cell.com
We performed a genomewide search for linkage in an extended Dutch family with hereditary
vascular retinopathy associated with migraine and Raynaud phenomenon. Patients with …