A5007726248- Genomics and Chromatin Dynamics
- CRISPR and Genetic Engineering
- COVID-19 Clinical Research Studies
- Digestive system and related health
- RNA and protein synthesis mechanisms
- Nutrition, Genetics, and Disease
- Epigenetics and DNA Methylation
- RNA modifications and cancer
- Long-Term Effects of COVID-19
- Chromosomal and Genetic Variations
- DNA Repair Mechanisms
- Insect and Arachnid Ecology and Behavior
- Cancer Genomics and Diagnostics
- Evolution and Genetic Dynamics
- SARS-CoV-2 and COVID-19 Research
- Pregnancy and preeclampsia studies
- Mitochondrial Function and Pathology
- Immune Cell Function and Interaction
- Genomics and Phylogenetic Studies
- Birth, Development, and Health
- Genomic variations and chromosomal abnormalities
- Intensive Care Unit Cognitive Disorders
- RNA Research and Splicing
- Genetics and Neurodevelopmental Disorders
- Amino Acid Enzymes and Metabolism
Imperial College Healthcare NHS Trust
2024-2025
University Hospital Southampton NHS Foundation Trust
2022
Imperial College London
2004-2022
London Cancer
2022
NIHR Clinical Research Network
2021
National Institute for Health Research
2021
National Records of Scotland
2021
Intensive Care National Audit & Research Centre
2021
Public Health Scotland
2021
University Hospitals Birmingham NHS Foundation Trust
2021
The ability of adult humans to digest the milk sugar lactose - lactase persistence is a dominant Mendelian trait that has been subject extensive genetic, medical and evolutionary research. Lactase common in people European ancestry as well some African, Middle Eastern Southern Asian groups, but rare or absent elsewhere world. recent identification independent nucleotide changes are strongly associated with different populations worldwide led possibility genetic tests for trait. However, it...
The genetic trait of lactase persistence (LP) is associated with at least five independent functional single nucleotide variants in a regulatory region about 14 kb upstream the gene [−13910*T (rs4988235), −13907*G (rs41525747), −13915*G (rs41380347), −14009*G (rs869051967) and −14010*C (rs145946881)]. These alleles have been inferred to spread recently present-day frequencies attributed positive selection for ability adult humans digest lactose without risk symptoms intolerance. One...
Objective To establish new trimester-specific reference ranges for thyroid function tests - stimulating hormone (TSH), free thyroxine (fT4) and triiodothyronine (fT3) in a diverse multi-ethnic population using the Abbott Alinity analyser, accordance with 2017 American Thyroid Association Guidelines Diagnosis Management of disease during Pregnancy Postpartum. Design Reference (defined as 2.5th-97.5th centile) were established TSH, fT4 fT3 from prospective samples 663 iodine-replete healthy...
The genetic trait that allows intestinal lactase to persist into adulthood in some 35% of humans worldwide operates at the level transcription, effect being caused by cis-acting nucleotide changes upstream gene (LCT). A single substitution, -13910 C>T, first causal variant be identified, accounts for persistence over most Europe. Located a region shown have enhancer function vitro, it causes increased activity LCT promoter Caco-2 cells, and altered transcription factor binding. Three other...
The genetic trait of lactase persistence is attributable to allelic variants in an enhancer region upstream the gene, LCT. To date, five different functional alleles, −13910*T, −13907*G, −13915*G, −14009*G and −14010*C, have been identified. co-occurrence several these alleles Ethiopian lactose digesters leads a pattern sequence diversity characteristic 'soft selective sweep'. Here we hypothesise that throughout Africa, where multiple co-exist, will be greater groups who are traditional milk...
Cis-acting polymorphisms that affect gene expression are now known to be frequent, although the extent and mechanisms by which such variation affects human phenotype are, as yet, only poorly understood. Key signatures of cis-acting differences in tightly associated with regulatory SNPs or Quantitative Trait Loci (eQTL) an imbalance allelic (AEI) heterozygous samples. Such sequence appear often have been under selection within between populations also thought important speciation. Here we...
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Abstract Objective Combination biological therapies are being considered increasingly for patients with multiple co-morbidities requiring biologics. There limited data available on this approach, and concerns remain about the possible risk of adverse events, particularly infection. Methods We present three dual biologics rheumatic disease asthma. The biologic combinations used were etanercept mepolizumab, infliximab omalizumab, omalizumab. time combination ranged from 24 to 36 months....