J. Mitchell
A5101783224- Chronic Kidney Disease and Diabetes
- Advanced battery technologies research
- Bone and Dental Protein Studies
- Protein Degradation and Inhibitors
- Coenzyme Q10 studies and effects
- Pediatric Urology and Nephrology Studies
- Kidney Stones and Urolithiasis Treatments
- Genomics and Rare Diseases
- Ion channel regulation and function
- dental development and anomalies
- Epigenetics and DNA Methylation
- Cancer Genomics and Diagnostics
- Ion Transport and Channel Regulation
- Genomics and Chromatin Dynamics
- Connexins and lens biology
- Genetic factors in colorectal cancer
- Mitochondrial Function and Pathology
- Cardiac electrophysiology and arrhythmias
Newcastle University
2023
Great Ormond Street Hospital for Children NHS Foundation Trust
2023
Genomics (United Kingdom)
2023
European Bioinformatics Institute
2023
German Cancer Research Center
2023
North Bristol NHS Trust
2023
Heidelberg University
2023
European Molecular Biology Laboratory
2023
Beth Israel Deaconess Medical Center
2022
Genomics England
2022
The kidney-specific gene UMOD encodes for uromodulin, the most abundant protein excreted in normal urine. Rare large-effect variants cause autosomal dominant tubulointerstitial kidney disease (ADTKD), while common low-impact strongly associate with function and risk of chronic (CKD) general population. It is unknown whether intermediate-effect contribute to CKD. Here, candidate were identified using large-population ADTKD cohorts. Biological phenotypical effects investigated cell models,...
Abstract Background Cancer genome sequencing enables accurate classification of tumours and tumour subtypes. However, prediction performance is still limited using exome-only for types with low somatic mutation burden such as many paediatric tumours. Moreover, the ability to leverage deep representation learning in discovery entities remains unknown. Methods We introduce here Mutation-Attention (MuAt), a neural network learn representations simple complex alterations In contrast previous...
The aim of this study was to investigate coenzyme Q10 (CoQ10) biosynthesis pathway defects in inherited retinal dystrophy. Individuals affected by dystrophy (IRD) underwent exome or genome sequencing for molecular diagnosis their condition. Following negative IRD gene panel analysis, patients carrying biallelic variants CoQ10 genes were identified. Clinical data collected from the medical records. Haplotypes harbouring same missense variant characterised family (GS) and direct Sanger...
TSPEAR variants cause autosomal recessive ectodermal dysplasia (ARED) 14. The function of is unknown. clinical features, the mutation spectrum, and underlying mechanisms ARED14 are poorly understood. Combining data from new previously published individuals established that primarily characterized by dental anomalies such as conical tooth cusps hypodontia, like those seen in with WNT10A-related odontoonychodermal dysplasia. AlphaFold-predicted structure-based analysis showed most pathogenic...
Abstract Histone modifications influence the recruitment of reader proteins to chromosomes regulate events including transcription and cell division. The idea a histone code, where combinations specify unique downstream functions, is widely accepted can be demonstrated in vitro. For example, on synthetic peptides, phosphorylation H3 at threonine-3 (H3T3ph) prevents binding that recognize trimethylation adjacent lysine-4 (H3K4me3), TAF3 component TFIID. To study these combinatorial effects...
Abstract Background The majority of cases Dent’s disease are caused by pathogenic variants in the CLCN5 gene, which encodes a voltage-gated chloride ion channel (ClC-5), resulting proximal tubular dysfunction. We present three members same family and one unrelated paediatric patient with insertion-deletion variant. identification these patients positive familial segregation led to re-classification this variant from unknown significance likely pathogenicity. Case presentation A 41 year old...