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 …
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 …
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
Objectives There is increasing evidence that polymorphism of the ABCB1 (MDR1) gene
contributes to interindividual variability in bioavailability and tissue distribution of P-glycoprotein …
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 …
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 …
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, …
and exporting toxic compounds. Transporters also play a crucial role in drug response, …
Polymorphisms in a human kidney xenobiotic transporter, OCT2, exhibit altered function
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 …
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 …
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 …
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 …
vascular retinopathy associated with migraine and Raynaud phenomenon. Patients with …