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

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

http://www.wikidata.org/entity/Q35022362

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Genetic variation in an individual human exome Polymorphic variants in the human bile salt export pump (BSEP; ABCB11): functional characterization and interindividual variability Novel variants in human Aquaporin-4 reduce cellular water permeability Comprehensive pharmacogenetic analysis of irinotecan neutropenia and pharmacokinetics Evolutionary conservation predicts function of variants of the human organic cation transporter, OCT1 Sequence variation in G-protein-coupled receptors: analysis of single nucleotide polymorphisms Plasma membrane transporters in modern liver pharmacology The role of reduced intracellular concentrations of active drugs in the lack of response to anticancer chemotherapy Role of the plasma membrane transporter of organic cations OCT1 and its genetic variants in modern liver pharmacology Sequence diversity and haplotype structure at the human CYP3A cluster Genetic variation in the proximal promoter of ABC and SLC superfamilies: liver and kidney specific expression and promoter activity predict variation SIFT: Predicting amino acid changes that affect protein function Equilibrative nucleoside transporters-A review.Genetic diversity and function in the human cytosolic sulfotransferases.Structural imperatives impose diverse evolutionary constraints on helical membrane proteins Design, Synthesis, and Antiviral Evaluation of Chimeric Inhibitors of HIV Reverse Transcriptase.Nucleotide sequence analyses of the MRP1 gene in four populations suggest negative selection on its coding region.Metformin increases plasma ghrelin in Type 2 diabetes.Molecular modeling and ligand docking for solute carrier (SLC) transporters Functional role of the polymorphic 647 T/C variant of ENT1 (SLC29A1) and its association with alcohol withdrawal seizures.Comparison of human solute carriers Genetic polymorphisms and haplotypes of the organic cation transporter 1 gene (SLC22A1) in the Xhosa population of South Africa Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing.Institutional Profile: The University of California Pharmacogenomics Center: at the interface of genomics, biological mechanisms and drug therapy The pharmacogenomics of membrane transporters project: research at the interface of genomics and transporter pharmacology.Multiplexed variation scanning for 1,000 amplicons in hundreds of patients using mismatch repair detection (MRD) on tag arrays.Genetic variants in multidrug and toxic compound extrusion-1, hMATE1, alter transport function.Pharmacogenetics of Anti-Diabetes Drugs.Genetic variants of human organic anion transporter 4 demonstrate altered transport of endogenous substrates Genetic variation within the Mx gene of commercially selected chicken lines reveals multiple haplotypes, recombination and a protein under selection pressure.Genetic variation in drug transporters in ethnic populations.A simple method for analyzing exome sequencing data shows distinct levels of nonsynonymous variation for human immune and nervous system genes.A genome-wide scan of 10 000 gene-centric variants and colorectal cancer risk Functional genomics of membrane transporters in human populations.Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains.The human organic anion transporter 3 (OAT3; SLC22A8): genetic variation and functional genomics.Genome-wide association studies and cancer Pharmacogenetics of OATP (SLC21/SLCO), OAT and OCT (SLC22) and PEPT (SLC15) transporters in the intestine, liver and kidney.Clinical pharmacology and pharmacogenetics of gemcitabine.Pharmacogenetics of monoamine transporters.

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

http://www.wikidata.org/entity/Q35022362

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2003 nî lūn-bûn

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2003 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2003 թվականի ապրիլին հրատարակված գիտական հոդված

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2003年の論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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Natural variation in human mem ...... ary and functional constraints

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Natural variation in human mem ...... ary and functional constraints

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Natural variation in human mem ...... ary and functional constraints

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Natural variation in human mem ...... ary and functional constraints

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Natural variation in human mem ...... ary and functional constraints

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Natural variation in human mem ...... ary and functional constraints

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Proceedings of the National Academy of Sciences of the United States of America

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Natural variation in human mem ...... ary and functional constraints

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P2093

Andrew G Clark

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Conrad C Huang

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Deanna L Kroetz

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Doug Stryke

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Elaine J Carlson

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Ira Herskowitz

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Joseph DeYoung

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Kathleen M Giacomini

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Maya K Leabman

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Melanie de la Cruz

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P2860

Predicting deleterious amino acid substitutions

Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption

Statistical method for testing the neutral mutation hypothesis by DNA polymorphism

Amino acid substitution matrices from protein blocks

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

The structure of haplotype blocks in the human genome

Characterization of single-nucleotide polymorphisms in coding regions of human genes

Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis

Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase

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5896-5901

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10.1073/PNAS.0730857100

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100

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12719533

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156298

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