Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. - Wikidata - wikimedia - TriplyDB

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

http://www.wikidata.org/entity/Q37418902

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Quality standards for DNA sequence variation databases to improve clinical management under development in Australia.Epithelial Anion Transport as Modulator of Chemokine Signaling Advancing clinical development pathways for new CFTR modulators in cystic fibrosis Regulatory Crosstalk by Protein Kinases on CFTR Trafficking and Activity.Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next-generation treatments CFTR Modulators: Shedding Light on Precision Medicine for Cystic Fibrosis Precision Genomic Medicine in Cystic Fibrosis Rescue of NBD2 mutants N1303K and S1235R of CFTR by small-molecule correctors and transcomplementation Ribosomal Stalk Protein Silencing Partially Corrects the ΔF508-CFTR Functional Expression Defect A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics Increasing the Endoplasmic Reticulum Pool of the F508del Allele of the Cystic Fibrosis Transmembrane Conductance Regulator Leads to Greater Folding Correction by Small Molecule Therapeutics The cystic fibrosis lower airways microbial metagenome ClinGen--the Clinical Genome Resource Individualized medicine from prewomb to tomb Cystic fibrosis on the African continent.Overcoming the cystic fibrosis sputum barrier to leading adeno-associated virus gene therapy vectors A little CFTR goes a long way: CFTR-dependent sweat secretion from G551D and R117H-5T cystic fibrosis subjects taking ivacaftor Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.ATS Core Curriculum 2015: Part III. Pediatric Pulmonary Medicine.Defining a mutational panel and predicting the prevalence of cystic fibrosis in oman Deciphering next-generation pharmacogenomics: an information technology perspective.Year in review 2013: Lung cancer, respiratory infections, tuberculosis, cystic fibrosis, pleural diseases, bronchoscopic intervention and imaging Translational genomics. Clues from the resilient.Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Clinical mechanism of the cystic fibrosis transmembrane conductance regulator potentiator ivacaftor in G551D-mediated cystic fibrosis Potentiator ivacaftor abrogates pharmacological correction of ΔF508 CFTR in cystic fibrosis.PharmGKB summary: very important pharmacogene information for CFTR Diabetes-related mortality in adults with cystic fibrosis. Role of genotype and sex A rapid molecular approach for chromosomal phasing Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity.Ferret and pig models of cystic fibrosis: prospects and promise for gene therapy.Novel personalized therapies for cystic fibrosis: treating the basic defect in all patients.Full-open and closed CFTR channels, with lateral tunnels from the cytoplasm and an alternative position of the F508 region, as revealed by molecular dynamics.The first FDA marketing authorizations of next-generation sequencing technology and tests: challenges, solutions and impact for future assays.Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.Measurements of Functional Responses in Human Primary Lung Cells as a Basis for Personalized Therapy for Cystic Fibrosis.A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility.Rescuing Trafficking Mutants of the ATP-binding Cassette Protein, ABCA4, with Small Molecule Correctors as a Treatment for Stargardt Eye Disease.

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P2860

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

http://www.wikidata.org/entity/Q37418902

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 25 August 2013

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Defining the disease liability ...... ne conductance regulator gene.

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Defining the disease liability ...... ne conductance regulator gene.

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Defining the disease liability ...... ne conductance regulator gene.

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Defining the disease liability ...... ne conductance regulator gene.

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Defining the disease liability ...... ne conductance regulator gene.

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Defining the disease liability ...... ne conductance regulator gene.

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Defining the disease liability ...... ne conductance regulator gene.

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Carlo Castellani

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Christopher M Penland

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David L Masica

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Fredrick Van Goor

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Garry R Cutting

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George P Patrinos

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Haihui Yu

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Johanna M Rommens

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Julian Zielenski

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Kyle Kaniecki

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An integrated map of genetic variation from 1,092 human genomes

Five Percent of Normal Cystic Fibrosis Transmembrane Conductance Regulator mRNA Ameliorates the Severity of Pulmonary Disease in Cystic Fibrosis

The value of data

Spirometric reference values from a sample of the general U.S. population

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

The NCBI dbGaP database of genotypes and phenotypes

Basic statistical analysis in genetic case-control studies

Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770

Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report

Requirements for Efficient Correction of ΔF508 CFTR Revealed by Analyses of Evolved Sequences

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10.1038/NG.2745

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Margarida D. Amaral

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