The background puzzle: how identical mutations in the same gene lead to different disease symptoms
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Title
The background puzzle: how identical mutations in the same gene lead to different disease symptoms
Authors
Keywords
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Journal
FEBS Journal
Volume 284, Issue 20, Pages 3362-3373
Publisher
Wiley
Online
2017-04-08
DOI
10.1111/febs.14080
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- (2016) Alexandra Dorman et al. BMC GENETICS
- Response by Crotti et al to Letter Regarding Article, “Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3′ Untranslated Region of KCNQ1?”
- (2016) Lia Crotti et al. Circulation-Cardiovascular Genetics
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- Genetic Background Limits Generalizability of Genotype-Phenotype Relationships
- (2016) Laura J. Sittig et al. NEURON
- A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease
- (2016) Sanjeev Rajakulendran et al. PLoS One
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- (2016) Audrey P. Gasch et al. TRENDS IN GENETICS
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- (2016) Matthew B. Taylor et al. Nature Communications
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- (2016) Fergus J. Couch et al. Nature Communications
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- (2016) Rachel Schell et al. PLOS BIOLOGY
- Fine Mapping of a Dravet Syndrome Modifier Locus on Mouse Chromosome 5 and Candidate Gene Analysis by RNA-Seq
- (2016) Nicole A. Hawkins et al. PLoS Genetics
- Response by Crotti et al to Letter Regarding Article, “Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3′ Untranslated Region of KCNQ1?”
- (2016) Lia Crotti et al. Circulation-Cardiovascular Genetics
- A suppressor locus for MODY3-diabetes
- (2016) Miguel A. Garcia-Gonzalez et al. Scientific Reports
- Natural Variation in Gene Expression Modulates the Severity of Mutant Phenotypes
- (2015) Victoria Vu et al. CELL
- Candidate genetic modifiers of retinitis pigmentosa identified by exploiting natural variation inDrosophila
- (2015) Clement Y. Chow et al. HUMAN MOLECULAR GENETICS
- Effect of genetic background on the dystrophic phenotype inmdxmice
- (2015) William D. Coley et al. HUMAN MOLECULAR GENETICS
- The role of functional data in interpreting the effects of genetic variation
- (2015) David L. Young et al. MOLECULAR BIOLOGY OF THE CELL
- Identification of six new susceptibility loci for invasive epithelial ovarian cancer
- (2015) Karoline B Kuchenbaecker et al. NATURE GENETICS
- Bringing genetic background into focus
- (2015) Clement Y. Chow NATURE REVIEWS GENETICS
- Protective alleles and modifier variants in human health and disease
- (2015) Andrew R. Harper et al. NATURE REVIEWS GENETICS
- Systemic Regulation of RAS/MAPK Signaling by the Serotonin Metabolite 5-HIAA
- (2015) Tobias Schmid et al. PLoS Genetics
- Transcriptional Derepression Uncovers Cryptic Higher-Order Genetic Interactions
- (2015) Matthew B. Taylor et al. PLoS Genetics
- Wild worm embryogenesis harbors ubiquitous polygenic modifier variation
- (2015) Annalise B Paaby et al. eLife
- Causes and Consequences of Genetic Background Effects Illuminated by Integrative Genomic Analysis
- (2014) Christopher H. Chandler et al. GENETICS
- Deep mutational scanning: a new style of protein science
- (2014) Douglas M Fowler et al. NATURE METHODS
- One gene, many neuropsychiatric disorders: lessons from Mendelian diseases
- (2014) Xiaolin Zhu et al. NATURE NEUROSCIENCE
- Genetic variants of Adam17 differentially regulate TGF signaling to modify vascular pathology in mice and humans
- (2014) K. Kawasaki et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- A simulation study of gene-by-environment interactions in GWAS implies ample hidden effects
- (2014) Urko M. Marigorta et al. Frontiers in Genetics
- The role of lipid-related genes, aging-related processes, and environment in healthspan
- (2013) Alexander M. Kulminski et al. AGING CELL
- Global Analysis of DNA Methylation Variation in Adipose Tissue from Twins Reveals Links to Disease-Associated Variants in Distal Regulatory Elements
- (2013) Elin Grundberg et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Natural genetic variation determines susceptibility to aggregation or toxicity in a C. elegans model for polyglutamine disease
- (2013) Tali Gidalevitz et al. BMC BIOLOGY
- Genetic background and tumour susceptibility in mouse models
- (2013) J Puccini et al. CELL DEATH AND DIFFERENTIATION
- Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
- (2013) David N. Cooper et al. HUMAN GENETICS
- Does your gene need a background check? How genetic background impacts the analysis of mutations, genes, and evolution
- (2013) Christopher H. Chandler et al. TRENDS IN GENETICS
- Genetic Background and GxE Interactions Modulate the Penetrance of a Naturally Occurring Wing Mutation in Drosophila melanogaster
- (2013) Joseph Lachance et al. G3-Genes Genomes Genetics
- The Conditional Nature of Genetic Interactions: The Consequences of Wild-Type Backgrounds on Mutational Interactions in a Genome-Wide Modifier Screen
- (2013) Sudarshan Chari et al. PLoS Genetics
- What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
- (2012) Vivienne C. M. Neeve et al. BRAIN
- Monozygotic twins discordant for constitutiveBRCA1promoter methylation, childhood cancer and secondary cancer
- (2012) Danuta Galetzka et al. Epigenetics
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- Modifier Genes and the Plasticity of Genetic Networks in Mice
- (2012) Bruce A. Hamilton et al. PLoS Genetics
- Variants in the 3′ untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner
- (2011) Ahmad S. Amin et al. EUROPEAN HEART JOURNAL
- Predicting mutation outcome from early stochastic variation in genetic interaction partners
- (2011) Alejandro Burga et al. NATURE
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- (2011) Fred A Wright et al. NATURE GENETICS
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- (2011) Darren J. Burgess NATURE REVIEWS GENETICS
- Fitness Trade-Offs and Environmentally Induced Mutation Buffering in Isogenic C. elegans
- (2011) M. O. Casanueva et al. SCIENCE
- Hypermethylation of serotonin transporter gene in bipolar disorder detected by epigenome analysis of discordant monozygotic twins
- (2011) H Sugawara et al. Translational Psychiatry
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- (2010) C H Chandler HEREDITY
- Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis
- (2010) Sergio E. Baranzini et al. NATURE
- The Genetic Landscape of a Cell
- (2010) M. Costanzo et al. SCIENCE
- Genomic Consequences of Background Effects on scalloped Mutant Expressivity in the Wing of Drosophila melanogaster
- (2008) I. Dworkin et al. GENETICS
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