Accès ouvert
2026
article
OpenAlex
Zoriana Novosiadla, Sarah Mele, Emily Kerton, John Christodoulou et autres
BACKGROUND: Nutrient-gene interactions are key determinants of metabolic disease phenotypes, but systematic analysis remains constrained by the labour required to generate precisely defined diets. To address this, we developed a flexible method for assembling synthetic diets for Drosophila melanogaster from individual stock …
au
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Accès ouvert
2026
preprint
OpenAlex
Zoriana Novosiadla, Sarah Mele, Emily Kerton, John Christodoulou et autres
Abstract Nutrient-gene interactions shape metabolic disease phenotypes, but systematic testing is limited by the effort required to produce defined diets. We developed a flexible protocol that assembles precisely defined synthetic diets for Drosophila melanogaster from individual stock solutions. Using this approach, we …
au
(code pays fourni par la source)
Accès ouvert
2026
article
OpenAlex
Sarah Mele, Joshua Millward, Long Nguyen, Natasha M. Ruth et autres
Quantitative behavioural analysis is a powerful approach for linking genotype to phenotype, but many existing tools require specialised hardware, extensive preprocessing or coding expertise. We present Segment Anything Model for Behavioural Analysis (SAMBA), an open-access, Google Colab-based pipeline that harnesses the Segment …
au
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Accès ouvert
2026
article
OpenAlex
Dana Jazayeri, E Braine, S McDonald, Sebastian Dworkin et autres
Objective: Sodium valproate (VPA), the most effective antiepileptic drug for patients with genetic generalized epilepsy (GGE), is a potent human teratogen that increases the risk of a range of congenital malformations, including spina bifida. The mechanisms underlying this teratogenicity are not known, …
au
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Accès ouvert
2025
article
OpenAlex
Sarah W. Curtis, Alba Sanchis-Juan, Katherine Singleton, Terri H. Beaty et autres
Orofacial clefts (OFCs) are one of the most common structural birth defects, with the prevalence of OFC varying across populations, and studies on the causes of OFCs in diverse populations are necessary, but still limited. We analyzed whole genome sequencing data on …
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(code pays fourni par la source)
Accès ouvert
2025
preprint
OpenAlex
Sarah Mele, Long D. Nguyen, Joshua Millward, Jemma G. Gasperoni et autres
ABSTRACT Quantitative behavioural analysis is a powerful approach for linking genotype to phenotype, but many existing tools require specialised hardware, extensive preprocessing, or coding expertise. We present SAMBA (Segment Anything Model for Behavioural Analysis), an open-access, Google Colab-based pipeline that harnesses the …
au
(code pays fourni par la source)
Accès ouvert
2025
article
OpenAlex
Nishanthi Mathiyalagan, Travis K. Johnson, Zachary Di Pastena, Jarrad N. Fuller et autres
Abstract Background Environmental influence is critical for embryogenesis but is significantly under‐appreciated under lab conditions, which are not typically designed to robustly test environmental variability. Here, we report environmental effects on the developmental phenotype of zebrafish lacking the transcription factor Grainyhead‐like 3 …
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Accès ouvert
2025
article
OpenAlex
Sarah Mele, F Martelli, CK Barlow, Grace Jefferies et autres
Short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) is a rare genetic disorder caused by biallelic pathogenic variants in the ECHS1 gene. ECHS1D is characterised by severe neurological and physical impairment that often leads to childhood mortality. Therapies such as protein and single nutrient-restricted …
au
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Accès ouvert
2025
article
OpenAlex
Sarah Mele, F Martelli, CK Barlow, Grace Jefferies et autres
Short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) is a rare genetic disorder caused by biallelic pathogenic variants in the ECHS1 gene. ECHS1D is characterised by severe neurological and physical impairment that often leads to childhood mortality. Therapies such as protein and single nutrient-restricted …
au
(code pays fourni par la source)
2024
article
OpenAlex
Sarah Mele, Felipe Martelli, Christopher K. Barlow, Grace Jefferies et autres
Short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) is a rare genetic disorder caused by biallelic pathogenic variants in the ECHS1 gene. ECHS1D is characterised by severe neurological and physical impairment that often leads to childhood mortality. Therapies such as protein and single nutrient-restricted …
au
(code pays fourni par la source)
Accès ouvert
2024
article
OpenAlex
Marija Dinevska, Lachlan Mcaloney, Samuel S. Widodo, Gulay Filiz et autres
Testicular tumors are the most common malignancy of young men, and tumors affecting the testis are caused by somatic mutations in germ or germ-like cells. The PI3K pathway is constitutively activated in about one-third of testicular cancers. To investigate the role of …
au
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Accès ouvert
2024
preprint
OpenAlex
Marija Dinevska, Lachlan Mcaloney, Samuel S. Widodo, Gulay Filiz et autres
Abstract Testicular tumors are the most common malignancy of young men and tumors affecting the testis are caused by somatic mutations in germ or germ-like cells. The PI3K pathway is constitutively activated in about one third of testicular cancers. To investigate the …
au
(code pays fourni par la source)