Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure
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Title
Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure
Authors
Keywords
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Journal
Nature Communications
Volume 13, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2022-07-07
DOI
10.1038/s41467-022-31686-6
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Related references
Note: Only part of the references are listed.- The properties of human disease mutations at protein interfaces
- (2022) Benjamin J. Livesey et al. PLoS Computational Biology
- Diverse Molecular Mechanisms Underlying Pathogenic Protein Mutations: Beyond the Loss-of-Function Paradigm
- (2022) Lisa Backwell et al. Annual Review of Genomics and Human Genetics
- Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency
- (2021) Gerarda Mastrogiorgio et al. Orphanet Journal of Rare Diseases
- Protein Stability Perturbation Contributes to the Loss of Function in Haploinsufficient Genes
- (2021) Giovanni Birolo et al. Frontiers in Molecular Biosciences
- Understanding the Origins of Loss of Protein Function by Analyzing the Effects of Thousands of Variants on Activity and Abundance
- (2021) Matteo Cagiada et al. MOLECULAR BIOLOGY AND EVOLUTION
- Multiplexed assays reveal effects of missense variants in MSH2 and cancer predisposition
- (2021) Sofie V. Nielsen et al. PLoS Genetics
- Highly accurate protein structure prediction with AlphaFold
- (2021) John Jumper et al. NATURE
- Highly accurate protein structure prediction for the human proteome
- (2021) Kathryn Tunyasuvunakool et al. NATURE
- Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants
- (2021) Cigdem Sevim Bayrak et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Variant interpretation using population databases: Lessons from gnomAD
- (2021) Sanna Gudmundsson et al. HUMAN MUTATION
- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- Novel and prevalent non-East Asian ALDH2 variants; Implications for global susceptibility to aldehydes’ toxicity
- (2020) Che-Hong Chen et al. EBioMedicine
- Using deep mutational scanning to benchmark variant effect predictors and identify disease mutations
- (2020) Benjamin J Livesey et al. Molecular Systems Biology
- KCTD1 mutants in scalp‑ear‑nipple syndrome and AP‑2α P59A in Char syndrome reciprocally abrogate their interactions, but can regulate Wnt/β‑catenin signaling
- (2020) Lingyu Hu et al. Molecular Medicine Reports
- DynaMut2 : Assessing changes in stability and flexibility upon single and multiple point missense mutations
- (2020) Carlos H.M. Rodrigues et al. PROTEIN SCIENCE
- Identification of pathogenic missense mutations using protein stability predictors
- (2020) Lukas Gerasimavicius et al. Scientific Reports
- PANTHER version 16: a revised family classification, tree-based classification tool, enhancer regions and extensive API
- (2020) Huaiyu Mi et al. NUCLEIC ACIDS RESEARCH
- UniProt: the universal protein knowledgebase in 2021
- (2020) et al. NUCLEIC ACIDS RESEARCH
- dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs
- (2020) Xiaoming Liu et al. Genome Medicine
- Biophysical and Mechanistic Models for Disease-Causing Protein Variants
- (2019) Amelie Stein et al. TRENDS IN BIOCHEMICAL SCIENCES
- FoldX 5.0: Working with RNA, small molecules and a new graphical interface
- (2019) Javier Delgado et al. BIOINFORMATICS
- The role of protein complexes in human genetic disease
- (2019) L. Therese Bergendahl et al. PROTEIN SCIENCE
- De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies
- (2019) Richard J. Holt et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction
- (2019) Kathleen A. Williamson et al. GENETICS IN MEDICINE
- Comprehensive Analysis of Constraint on the Spatial Distribution of Missense Variants in Human Protein Structures
- (2018) R. Michael Sivley et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Bonferroni-Holm and permutation tests to compare health data: methodological and applicative issues
- (2018) Massimiliano Giacalone et al. BMC Medical Research Methodology
- Quantitative Missense Variant Effect Prediction Using Large-Scale Mutagenesis Data
- (2018) Vanessa E. Gray et al. Cell Systems
- Human Diseases from Gain-of-Function Mutations in Disordered Protein Regions
- (2018) Xiao-Han Li et al. CELL
- Accurate classification of BRCA1 variants with saturation genome editing
- (2018) Gregory M. Findlay et al. NATURE
- Deep generative models of genetic variation capture the effects of mutations
- (2018) Adam J. Riesselman et al. NATURE METHODS
- Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions
- (2018) Patricia Heyn et al. NATURE GENETICS
- OMIM.org: leveraging knowledge across phenotype–gene relationships
- (2018) Joanna S Amberger et al. NUCLEIC ACIDS RESEARCH
- The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
- (2017) Peter D. Stenson et al. HUMAN GENETICS
- The Proteins API: accessing key integrated protein and genome information
- (2017) Andrew Nightingale et al. NUCLEIC ACIDS RESEARCH
- Mutations at protein-protein interfaces: Small changes over big surfaces have large impacts on human health
- (2017) Harry C. Jubb et al. PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY
- Decoding disease-causing mechanisms of missense mutations from supramolecular structures
- (2017) Atsushi Hijikata et al. Scientific Reports
- Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: a proposed framework
- (2017) Gustavo Glusman et al. Genome Medicine
- A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
- (2016) Meriel McEntagart et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Prospective functional classification of all possible missense variants in PPARG
- (2016) Amit R Majithia et al. NATURE GENETICS
- Widespread Macromolecular Interaction Perturbations in Human Genetic Disorders
- (2015) Nidhi Sahni et al. CELL
- 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
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns
- (2015) Tychele N. Turner et al. HUMAN MOLECULAR GENETICS
- The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity
- (2015) Dominik G. Grimm et al. HUMAN MUTATION
- ClinGen — The Clinical Genome Resource
- (2015) Heidi L. Rehm et al. NEW ENGLAND JOURNAL OF MEDICINE
- Comparison of predicted and actual consequences of missense mutations
- (2015) Lisa A. Miosge et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Increased Aggregation Is More Frequently Associated to Human Disease-Associated Mutations Than to Neutral Polymorphisms
- (2015) Greet De Baets et al. PLoS Computational Biology
- Single nucleotide variations: Biological impact and theoretical interpretation
- (2014) Panagiotis Katsonis et al. PROTEIN SCIENCE
- Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome
- (2013) Alexander G. Marneros et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Molecular Mechanisms of Disease-Causing Missense Mutations
- (2013) Shannon Stefl et al. JOURNAL OF MOLECULAR BIOLOGY
- ClinVar: public archive of relationships among sequence variation and human phenotype
- (2013) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- Cancer Missense Mutations Alter Binding Properties of Proteins and Their Interaction Networks
- (2013) Hafumi Nishi et al. PLoS One
- Gene Overexpression: Uses, Mechanisms, and Interpretation
- (2012) G. Prelich GENETICS
- Correlating disease-related mutations to their effect on protein stability: A large-scale analysis of the human proteome
- (2011) Rita Casadio et al. HUMAN MUTATION
- The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors
- (2011) Henning Stehr et al. Molecular Cancer
- A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics
- (2011) Shawn Witham et al. PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS
- Using SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function Mutations
- (2010) Sarah E. Flanagan et al. Genetic Testing and Molecular Biomarkers
- A Simple Definition of Structural Regions in Proteins and Its Use in Analyzing Interface Evolution
- (2010) Emmanuel D. Levy JOURNAL OF MOLECULAR BIOLOGY
- Mechanisms of transcription factor selectivity
- (2010) Yongping Pan et al. TRENDS IN GENETICS
- Correlating protein function and stability through the analysis of single amino acid substitutions
- (2009) Yana Bromberg et al. BMC BIOINFORMATICS
- Assessing computational methods for predicting protein stability upon mutation: good on average but not in the details
- (2009) V. Potapov et al. PROTEIN ENGINEERING DESIGN & SELECTION
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