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