Christopher J. Kershaw
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View article: Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome Open
Our findings indicate that noncanonical splice variants may account for approximately 3% of families with undiagnosed FTAAD, highlighting the importance of incorporating analysis of introns and confirmatory RNA testing into genetic testing…
View article: Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome Open
Purpose To quantify the impact of non-canonical FBN1 splice site variants in undiagnosed Marfan syndrome (MFS), a connective tissue disorder associated with skeletal abnormalities and Familial Thoracic Aortic Aneurysm Disease (FTAAD). Meth…
View article: Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly
Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly Open
Background Achondroplasia and mandibulofacial dysostosis with microcephaly (MFDM) are rare monogenic, dominant disorders, caused by gain-of-function fibroblast growth factor receptor 3 ( FGFR3 ) gene variants and loss-of-function elongatio…
View article: A mixed-method randomised controlled feasibility trial of digital CBT and emotion regulation skills training for employees in the workplace (REST)
A mixed-method randomised controlled feasibility trial of digital CBT and emotion regulation skills training for employees in the workplace (REST) Open
Background and aim Digital interventions for depression and anxiety can be as effective as face-to-face therapy. One in six workers experience some form of mental health problems, making the workplace a potential avenue to deliver mental h…
View article: REST 2.0: Protocol for a randomised controlled trial of a preventative psychological skills training intervention for employee wellbeing and productivity
REST 2.0: Protocol for a randomised controlled trial of a preventative psychological skills training intervention for employee wellbeing and productivity Open
The workplace has been identified as a pertinent and sustainable setting for providing mental wellbeing support at scale, whilst overcoming the many barriers to accessing timely treatment through traditional healthcare pathways. Given the …
View article: Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment
Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment Open
Metachromatic leukodystrophy (MLD) is a devastating rare neurodegenerative disease. Typically, loss of motor and cognitive skills precedes early death. The disease is characterised by deficient lysosomal arylsulphatase A (ARSA) activity an…
View article: A Pre-Pilot Newborn Screening Study for Metachromatic Leukodystrophy Identified and Referred a Late Infantile Case for Treatment
A Pre-Pilot Newborn Screening Study for Metachromatic Leukodystrophy Identified and Referred a Late Infantile Case for Treatment Open
View article: Translation factor and RNA binding protein mRNA interactomes support broader RNA regulons for posttranscriptional control
Translation factor and RNA binding protein mRNA interactomes support broader RNA regulons for posttranscriptional control Open
View article: Paralogous translation factors target distinct mRNAs to differentially regulate tolerance to oxidative stress in yeast
Paralogous translation factors target distinct mRNAs to differentially regulate tolerance to oxidative stress in yeast Open
Translation initiation factor 4G (eIF4G) is an integral component of the eIF4F complex which is key to translation initiation for most eukaryotic mRNAs. Many eIF4G isoforms have been described in diverse eukaryotic organisms but we current…
View article: Interaction of the La-related protein Slf1 with colliding ribosomes maintains translation of oxidative-stress responsive mRNAs
Interaction of the La-related protein Slf1 with colliding ribosomes maintains translation of oxidative-stress responsive mRNAs Open
In response to oxidative stress cells reprogram gene expression to enhance levels of antioxidant enzymes and promote survival. In Saccharomyces cerevisiae the polysome-interacting La-related proteins (LARPs) Slf1 and Sro9 aid adaptation of…
View article: Integrated multi-omics reveals common properties underlying stress granule and P-body formation
Integrated multi-omics reveals common properties underlying stress granule and P-body formation Open
Non-membrane-bound compartments such as P-bodies (PBs) and stress granules (SGs) play important roles in the regulation of gene expression following environmental stresses. We have systematically and quantitatively determined the protein a…
View article: GTP binding to translation factor eIF2B stimulates its guanine nucleotide exchange activity
GTP binding to translation factor eIF2B stimulates its guanine nucleotide exchange activity Open
View article: Integrated multi-omics reveals common properties underlying stress granule and P-body formation
Integrated multi-omics reveals common properties underlying stress granule and P-body formation Open
Non-membrane-bound compartments such as P-bodies (PBs) and stress granules (SGs) play important roles in the regulation of gene expression following environmental stresses. We have systematically and quantitatively determined the protein a…
View article: Overlapping regions of Caf20 mediate its interactions with the mRNA-5′cap-binding protein eIF4E and with ribosomes
Overlapping regions of Caf20 mediate its interactions with the mRNA-5′cap-binding protein eIF4E and with ribosomes Open
View article: Overlapping regions of Caf20 mediate its interactions with the mRNA-5′cap-binding protein eIF4E and with ribosomes
Overlapping regions of Caf20 mediate its interactions with the mRNA-5′cap-binding protein eIF4E and with ribosomes Open
View article: Tolerance to nascent protein misfolding stress requires fine-tuning of the cAMP/PKA pathway
Tolerance to nascent protein misfolding stress requires fine-tuning of the cAMP/PKA pathway Open
View article: GTP Binding to Translation Factor eIF2B Stimulates Its Guanine Nucleotide Exchange Activity
GTP Binding to Translation Factor eIF2B Stimulates Its Guanine Nucleotide Exchange Activity Open
View article: Integrated multi-omics reveals common properties underlying stress granule and P-body formation
Integrated multi-omics reveals common properties underlying stress granule and P-body formation Open
Non-membrane-bound compartments such as P-bodies (PBs) and stress granules (SGs) play important roles in the regulation of gene expression following environmental stresses. We have systematically determined the protein and mRNA composition…
View article: Endoplasmic reticulum (ER) stress–induced reactive oxygen species (ROS) are detrimental for the fitness of a thioredoxin reductase mutant
Endoplasmic reticulum (ER) stress–induced reactive oxygen species (ROS) are detrimental for the fitness of a thioredoxin reductase mutant Open
The unfolded protein response (UPR) is constitutively active in yeast thioredoxin reductase mutants, suggesting a link between cytoplasmic thiol redox control and endoplasmic reticulum (ER) oxidative protein folding. The unique oxidative e…
View article: Archetypal transcriptional blocks underpin yeast gene regulation in response to changes in growth conditions
Archetypal transcriptional blocks underpin yeast gene regulation in response to changes in growth conditions Open
The transcriptional responses of yeast cells to diverse stresses typically include gene activation and repression. Specific stress defense, citric acid cycle and oxidative phosphorylation genes are activated, whereas protein synthesis gene…
View article: Dynamic changes in eIF4F-mRNA interactions revealed by global analyses of environmental stress responses
Dynamic changes in eIF4F-mRNA interactions revealed by global analyses of environmental stress responses Open
View article: The role of PKA in the translational response to heat stress in Saccharomyces cerevisiae
The role of PKA in the translational response to heat stress in Saccharomyces cerevisiae Open
Cellular responses to stress stem from a variety of different mechanisms, including translation arrest and relocation of the translationally repressed mRNAs to ribonucleoprotein particles like stress granules (SGs) and processing bodies (P…
View article: Untangling P-Bodies: Dissecting the Complex Web of Interactions that Enable Tiered Control of Gene Expression
Untangling P-Bodies: Dissecting the Complex Web of Interactions that Enable Tiered Control of Gene Expression Open
View article: Fail-safe control of translation initiation by dissociation of eIF2α phosphorylated ternary complexes
Fail-safe control of translation initiation by dissociation of eIF2α phosphorylated ternary complexes Open
Phosphorylation of eIF2α controls translation initiation by restricting the levels of active eIF2-GTP/Met-tRNAi ternary complexes (TC). This modulates the expression of all eukaryotic mRNAs and contributes to the cellular integrated stress…
View article: Author response: Fail-safe control of translation initiation by dissociation of eIF2α phosphorylated ternary complexes
Author response: Fail-safe control of translation initiation by dissociation of eIF2α phosphorylated ternary complexes Open
Article Figures and data Abstract eLife digest Introduction Results Discussion Materials and methods References Decision letter Author response Article and author information Metrics Abstract Phosphorylation of eIF2α controls translation i…
View article: Erratum: Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
Erratum: Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts Open
View article: Additional file 3: of Dynamic changes in eIF4F-mRNA interactions revealed by global analyses of environmental stress responses
Additional file 3: of Dynamic changes in eIF4F-mRNA interactions revealed by global analyses of environmental stress responses Open
Supplementary Source Data 2. ∆T edgeR files for changes in transcript levels with stress. Each TAP-tagged strain ± each stress is shown in a different tab. edgeR outputs shown for Total stress/Total control (∆T). (XLSX 4301 kb)
View article: Translation reprogramming is an evolutionarily conserved driver of phenotypic plasticity and therapeutic resistance in melanoma
Translation reprogramming is an evolutionarily conserved driver of phenotypic plasticity and therapeutic resistance in melanoma Open
The intratumor microenvironment generates phenotypically distinct but interconvertible malignant cell subpopulations that fuel metastatic spread and therapeutic resistance. Whether different microenvironmental cues impose invasive or thera…
View article: Additional file 1: of Dynamic changes in eIF4F-mRNA interactions revealed by global analyses of environmental stress responses
Additional file 1: of Dynamic changes in eIF4F-mRNA interactions revealed by global analyses of environmental stress responses Open
Supplementary Source Data 1. Counts by gene after analysis of mapped counts by HTSEQ. Transcript counts of mapped reads for each replicate of each experiment. (XLSX 2793Â kb)
View article: Additional file 4: of Dynamic changes in eIF4F-mRNA interactions revealed by global analyses of environmental stress responses
Additional file 4: of Dynamic changes in eIF4F-mRNA interactions revealed by global analyses of environmental stress responses Open
Supplementary Source Data 3. IP/T edgeR files for enrichment of RNAs in TAP IP with stress. Each TAP-tagged strain IP/T for stressed and unstressed samples is shown in a different tab. edgeR outputs shown for IP/Total (IP/T). (XLSX 5767Â k…