A5035309191- Protein Tyrosine Phosphatases
- Cell Adhesion Molecules Research
- RNA and protein synthesis mechanisms
- Bone and Dental Protein Studies
- Peptidase Inhibition and Analysis
- RNA Research and Splicing
- Ophthalmology and Visual Impairment Studies
- Signaling Pathways in Disease
- Bone Metabolism and Diseases
- High Altitude and Hypoxia
- PARP inhibition in cancer therapy
- Genetic Neurodegenerative Diseases
- Glaucoma and retinal disorders
- Molecular Biology Techniques and Applications
- Epigenetics and DNA Methylation
- Machine Learning in Bioinformatics
- Connective tissue disorders research
- Cholesterol and Lipid Metabolism
- Genomics, phytochemicals, and oxidative stress
- Adipose Tissue and Metabolism
- Helicobacter pylori-related gastroenterology studies
- Fungal and yeast genetics research
- Genomics and Phylogenetic Studies
- Genetic Associations and Epidemiology
- Cancer, Hypoxia, and Metabolism
University of Edinburgh
2021-2025
Institute of Genetics and Cancer
2023-2025
National Institute on Aging
2024
Western General Hospital
2023
University of Utah
2019-2021
Through the agnostic screening of patients with uncharacterised disease phenotypes for an upregulation type I interferon (IFN) signalling, we identified a cohort individuals heterozygous mutations in PTPN1, encoding protein-tyrosine phosphatase 1B (PTP1B). We aimed to describe clinical phenotype and molecular cellular pathology this new disease. In case series, collected neuroradiological data through collaboration paediatric neurology genetics colleagues across Europe (Czechia, France,...
RyR1-related disorders, arising from variants in the RYR1 gene encoding skeletal muscle ryanodine receptor, encompass a wide range of dominant and recessive phenotypes. The extensive length RyR1 diverse mechanisms underlying disease pose significant challenges for clinical interpretation, exacerbated by limited performance biases current variant effect predictors (VEPs). This study evaluates efficacy 70 VEPs distinguishing pathogenic missense putatively benign derived population databases....
Osteoporosis is a common skeletal disorder characterized by deterioration of bone tissue. The set genetic factors contributing to osteoporosis not completely specified. High-risk pedigrees were analyzed identify genes that may confer susceptibility disease. Candidate predisposition variants identified initially whole exome sequencing affected-relative pairs, approximately cousins, from 10 pedigrees. Variants filtered on the basis population frequency, concordance between pairs affecting gene...
Refractive error, measured here as mean spherical equivalent (SER), is a complex eye condition caused by both genetic and environmental factors. Individuals with strong positive or negative values of SER require spectacles other approaches for vision correction. Common risk factors have been identified genome-wide association studies (GWAS), but great part the refractive error heritability still missing. Some this may be explained rare variants (minor allele frequency [MAF] ≤ 0.01.). We...
Abstract Germline mutations in CDKN 2A (p16) are commonly found patients with family history of melanoma or personal multiple primary melanomas. The p16 tumor suppressor gene regulates cell cycle progression and senescence through binding cyclin‐dependent kinases ( CDK ) also cellular oxidative stress independently control. We identified a germline missense (c.350T>C, p.Leu117Pro) mutation patient who had four melanomas, numerous nevi, self‐reported melanoma. This particular has not been...
Pairs of related bladder cancer cases who belong to pedigrees with an excess were sequenced identify rare, shared variants as candidate predisposition variants. Candidate tested for association risk. A validated variant was assayed segregation other cases, and the predicted protein structure this analyzed. This study affected relative pairs from high-risk identified 152 One in ERF (ETS Repressing Factor) significantly associated risk independent population, observed segregate prostate...
Repeat regions are low-complexity in the human genome that largely code for intrinsic disorder proteins. Expansions outside normal thresholds repeat likely to be pathogenic, leading so-called expansion diseases. There have been numerous studies on most common group of diseases, which polyglutamine (polyQ) but there has much less work done second-largest repeats disorders, involves polyalanine (polyA) tracts. In this article, we present a comprehensive study structural changes predicted using...
Peptidyl arginine deiminase 6 (PADI6 or PAD6) is vital for early embryonic development in mice and humans, yet its function remains elusive. PADI6 less conserved than other PADIs it currently unknown whether has a catalytic function. Here we show that human dimerises like hPADIs 2–4, however, does not bind Ca2+ inactive vitro assays against standard PADI substrates. By determining the crystal structure of hPADI6, hPADI6 structured absence where hPADI2 hPADI4 are not, Ca-binding sites...
Microproteins are a novel and expanding group of small proteins encoded by less than 100-150 codons that translated from open reading frames (smORFs). It has been shown smORFs their corresponding microproteins make up sizable fraction the genome proteome, but very little information on microproteins' structural features exists in literature. In this paper, we present results analyzing predicted structures 44 microproteins. The show set have different amino acid composition profiles, similar...
Abstract Peptidyl arginine deiminase 6 (PADI6) is vital for early embryonic development in mice and humans, yet its function remains elusive. PADI6 less conserved than other PADIs it currently unknown whether has a catalytic function. Here we have shown that human dimerises like hPADIs 2-4, however, does not bind Ca 2+ inactive vitro assays against standard PADI substrates. By determining the crystal structure of hPADI6, show hPADI6 structured absence where hPADI2 hPADI4 are not, Ca-binding...
Abstract Comprehending aging’s molecular mechanisms, like RNA splicing and AMPK signaling, is vital for tackling age-related issues boosting resilience. Oxygen fluctuations from obstructive sleep apnea (OSA) cause Intermittent Hypoxia (IH), affecting respiratory functions health, prompting adaptive responses to counter reduced energy production. Mice as models allow simulating disorders studying muscle cell protection under low oxygen levels. Over the past two years, we have collected more...
ABSTRACT Osteoporosis is a common skeletal disorder characterized by deterioration of bone tissue in later life. The set genetic factors contributing to osteoporosis not completely specified. High-risk pedigrees were analyzed identify genes that may confer susceptibility disease. Candidate predisposition variants identified initially whole exome sequencing affected-relative-pairs, approximately cousins, from ten pedigrees. Variants filtered on the basis population frequency, concordance...
Abstract Refractive error is a complex eye condition caused by both genetic and environmental factors. Common risk factors have been identified genome-wide association studies (GWAS), but great part of the refractive heritability still missing. Some this may be explained rare variants (minor allele frequency [MAF] ≤ 0.01.). We performed multiple gene-based tests for on exome array data from Consortium Error Myopia (CREAM). The dataset consisted over 27,000 total subjects five cohorts...