Publications by authors named "J G HARPER"

Background/objectives: Dartmoor Estate Tea plantation in Devon, UK, is renowned for its unique microclimate and varied soil conditions, which contribute to the distinctive flavours and chemical profiles of tea. The chemical diversity of fresh leaf samples from various garden locations was explored within the plantation.

Methods: Fresh leaf, which differed by location, cultivar, time of day, and variety, was analysed using Flow Infusion Electrospray Ionisation Mass Spectrometry (FIE-MS).

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Lysosomal storage diseases (LSDs) comprise ~50 monogenic disorders marked by the buildup of cellular material in lysosomes, yet systematic global molecular phenotyping of proteins and lipids is lacking. We present a nanoflow-based multiomic single-shot technology (nMOST) workflow that quantifies HeLa cell proteomes and lipidomes from over two dozen LSD mutants. Global cross-correlation analysis between lipids and proteins identified autophagy defects, notably the accumulation of ferritinophagy substrates and receptors, especially in and mutants, where lysosomes accumulate cholesterol.

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Introduction: Pre-implantation testing (PGT) is often suggested by healthcare professionals (HCP) to parents of children with congenital adrenal hyperplasia (CAH) considering subsequent children. Despite this, some families choose to conceive naturally without genetic testing and intervention. The aims of this study were to explore fertility choices of couples with a child with CAH and the decision making process and perceptions behind these choices, and to explore the families' lived experiences with CAH and the couples' subsequent fertility journey.

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Recombination plays a key role in increasing the efficacy of selection. We investigate whether recombination can also play a role in resolving adaptive conflicts at loci coding for traits shared between the sexes. Errors during recombination events resulting in gene duplications may provide a long-term evolutionary advantage if those loci also experience sexually antagonistic (SA) selection since, after duplication, sex-specific expression profiles will be free to evolve, thereby reducing the load on population fitness and resolving the conflict.

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