Mutation, Missense
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A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction Academic Article
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A thrombopoietin receptor antagonist is capable of depleting myelofibrosis hematopoietic stem and progenitor cells Academic Article
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Alpha-synuclein suppresses mitochondrial protease ClpP to trigger mitochondrial oxidative damage and neurotoxicity Academic Article
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Antithrombins Wibble and Wobble (T85M/K): Archetypal Conformational Diseases With In Vivo Latent-Transition, Thrombosis, and Heparin Activation Academic Article
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Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis Academic Article
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CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia Academic Article
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CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis Academic Article
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Calmodulin-dependent nuclear import of HMG-box family nuclear factors: importance of the role of SRY in sex reversal Academic Article
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Clinicopathological characteristics associated with BRAF(K601E) and BRAF(L597) mutations in melanoma Academic Article
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Consequences of Two Different Amino-Acid Substitutions at the Same Codon in KRT14 Indicate Definitive Roles of Structural Distortion in Epidermolysis Bullosa Simplex Pathogenesis Academic Article
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Continuous Glycoprotein-130–Mediated Signal Transducer and Activator of Transcription-3 Activation Promotes Inflammation, Left Ventricular Rupture, and Adverse Outcome in Subacute Myocardial Infarction Academic Article
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Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis Academic Article
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Dimerization of Bacterial Diaminopimelate Decarboxylase Is Essential for Catalysis Academic Article
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Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions Academic Article
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Epidermal Growth Factor Receptor Extracellular Domain Mutations in Glioblastoma Present Opportunities for Clinical Imaging and Therapeutic Development Academic Article
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Identification of key residues involved in fibril formation by the conserved N-terminal region of Plasmodium falciparum merozoite surface protein 2 (MSP2) Academic Article
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Improvement in exercise duration, lung function and well-being in G551D-cystic fibrosis patients: a double-blind, placebo-controlled, randomized, cross-over study with ivacaftor treatment Academic Article
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Inhibin and premature ovarian failure Academic Article
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Insight into Schmid Metaphyseal Chondrodysplasia from the Crystal Structure of the Collagen X NC1 Domain Trimer Academic Article
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Insights into structure and function of the active site of SoxAX cytochromes Academic Article
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Interferon regulatory factor 6 differentially regulates toll-like receptor 2-dependent chemokine gene expression in epithelial cells Academic Article
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Mediator Subunit 12 Is Required for Neutrophil Development in Zebrafish Academic Article
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Merozoite surface protein 2 ofPlasmodium falciparum: Expression, structure, dynamics, and fibril formation of the conserved N-terminal domain Academic Article
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Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy Academic Article
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Missense single nucleotide polymorphisms in the human T cell receptor loci control variable gene usage in the T cell repertoire Academic Article
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Mutating the Tight-Dimer Interface of Dihydrodipicolinate Synthase Disrupts the Enzyme Quaternary Structure: Toward a Monomeric Enzyme†‡ Academic Article
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Necroptosis signalling is tuned by phosphorylation of MLKL residues outside the pseudokinase domain activation loop Academic Article
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Oncogenic mutations at the EGFR ectodomain structurally converge to remove a steric hindrance on a kinase-coupled cryptic epitope Academic Article
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Pathogenic mutation in the ALS/FTD gene, CCNF, causes elevated Lys48-linked ubiquitylation and defective autophagy Academic Article
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Pea LATE BLOOMER1 Is a GIGANTEA Ortholog with Roles in Photoperiodic Flowering, Deetiolation, and Transcriptional Regulation of Circadian Clock Gene Homologs Academic Article
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Phenylalanine residues act as membrane anchors in the antimicrobial action of Aurein 1.2 Academic Article
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Phosphorylation of hnRNP K by cyclin-dependent kinase 2 controls cytosolic accumulation of TDP-43 Academic Article
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Rapid Selection against Truncation Mutants in Yeast Reverse Two-Hybrid Screens Academic Article
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Receptor-interacting protein kinase 4 and interferon regulatory factor 6 function as a signaling axis to regulate keratinocyte differentiation Academic Article
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Selection signatures in tropical cattle are enriched for promoter and coding regions and reveal missense mutations in the damage response gene HELB Academic Article
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Structural and Functional Correlates of Enhanced Antiviral Immunity Generated by Heteroclitic CD8 T Cell Epitopes Academic Article
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Structural and functional characterization of the membrane-permeabilizing activity of Nicotiana occidentalis defensin NoD173 and protein engineering to enhance oncolysis Academic Article
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Structure/Function Characterization of μ-Conotoxin KIIIA, an Analgesic, Nearly Irreversible Blocker of Mammalian Neuronal Sodium Channels Academic Article
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Substrate-mediated Stabilization of a Tetrameric Drug Target Reveals Achilles Heel in Anthrax Academic Article
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The central active site arginine in sulfite oxidizing enzymes alters kinetic properties by controlling electron transfer and redox interactions Academic Article
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The single nucleotide polymorphism MAL-D96N mice provide new insights into functionality of Mal in TLR immune responses Academic Article
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The threshold of gp130-dependent STAT3 signaling is critical for normal regulation of hematopoiesis Academic Article
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VANGL2 regulates luminal epithelial organization and cell turnover in the mammary gland Academic Article
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Whole exome sequencing identifies a recurrent RQCD1 P131L mutation in cutaneous melanoma Academic Article
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X-linked cone dystrophy and colour vision deficiency arising from a missense mutation in a hybrid L/M cone opsin gene Academic Article