Crosbie, Emma J. Ryan, Neil A. J. Arends, Mark J. Bosse, Tjalling Burn, John Cornes, Joanna M. Crawford, Robin Eccles, Diana Frayling, Ian M. Ghaem-Maghami, Sadaf
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Published in
Genetics in Medicine
PurposeThere are no internationally agreed upon clinical guidelines as to which women with gynecological cancer would benefit from Lynch syndrome screening or how best to manage the risk of gynecological cancer in women with Lynch syndrome. The Manchester International Consensus Group was convened in April 2017 to address this unmet need. The aim o...
Khatri, BS Burt, A
Estimating recent effective population size is of great importance in characterising and predicting the evolution of natural populations. Methods based on nucleotide diversity may underestimate current day effective population sizes due to historical bottlenecks, whilst methods that reconstruct demographic history typically only detect long-term va...
Heath, AK Hodge, AM Ebeling, PR Eyles, DW Kvaskoff, D Buchanan, DD Giles, GG Williamson, EJ English, DR
Background: The role of vitamin D in cancer risk remains controversial, and limited data exist on associations between vitamin D and subtypes of specific cancers. We investigated associations between circulating 25-hydroxyvitamin D (25(OH)D) and risk of colorectal, breast, and prostate cancers, including subtypes. Methods: A case–cohort study withi...
frade-proud’hon-clerc, sara smol, thomas frenois, frédéric sand, olivier vaillant, emmanuel dhennin, véronique bonnefond, amélie froguel, philippe fumery, mathurin guillon-dellac, nathalie
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The NOD2 gene, involved in innate immune responses to bacterial peptidoglycan, has been found to be closely associated with Crohn&rsquo / s Disease (CD), with an Odds Ratio ranging from 3&ndash / 36. Families with three or more CD-affected members were related to a high frequency of NOD2 gene variations, such as R702W, G908R, and 1007fs, and were r...
Freudenthal, B Shetty, S Butterfield, NC Logan, JG Han, CR Zhu, X-G Astapova, I Hollenberg, AN Cheng, S-Y Bassett, JHD
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Background Thyroid hormones act in bone and cartilage via thyroid hormone receptor α (TRα). In the absence of T3, TRα interacts with co-repressors, including nuclear receptor co-repressor-1 (NCoR1), which recruit histone deacetylases (HDACs) and mediate transcriptional repression. Dominant-negative mutations of TRα cause resistance to thyroid hormo...
Simma, Eba Alemayehu Dermauw, Wannes Balabanidou, Vasileia Snoeck, Simon Bryon, Astrid Clark, Richard M Yewhalaw, Delenasaw Vontas, John Duchateau, Luc Van Leeuwen, Thomas
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Schipper, Tom Van Poucke, Mario Sonck, Laurien Smets, Pascale Ducatelle, Richard Broeckx, Bart Peelman, Luc
Hypertrophic cardiomyopathy (HCM) is the most common inherited human heart disease. The same disease has a high prevalence in cats, where it is also suspected to be inherited. More than 1500 variants in MYBPC3, MYH7 and other sarcomeric genes are associated with human HCM, while in cats, only two causative variants in MYBPC3 are currently known. He...
Van Poucke, Mario Stee, Kimberley Sonck, Laurien Stock, Emmelie Bosseler, Leslie Van Dorpe, Jo Van Nieuwerburgh, Filip Deforce, Dieter Peelman, Luc Van Ham, Luc
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Clinical, pathological, and genetic findings of a primary hereditary ataxia found in a Malinois dog family are described andcompared with its human counterpart. Based on the family history and the phenotype/genotype relationships alreadydescribed in humans and dogs, a causal variant was expected to be found in KCNJ10. Rather surprisingly, whole-exom...
Cacace, Rita Heeman, Bavo Van Mossevelde, Sara De Roeck, Arne Hoogmartens, Julie De Rijk, Peter Gossye, Helena De Vos, Kristof De Coster, Wouter Strazisar, Mojca
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Emerging evidence suggested a converging mechanism in neurodegenerative brain diseases (NBD) involving early neuronal network dysfunctions and alterations in the homeostasis of neuronal firing as culprits of neurodegeneration. In this study, we used paired-end short-read and direct long-read whole genome sequencing to investigate an unresolved auto...
Daly, Paul McClellan, Christopher Maluk, Marta Oakey, Helena Lapierre, Catherine Waugh, Robbie Stephens, Jennifer Marshall, David Barakate, Abdellah Tsuji, Yukiko
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Caffeic acid O-methyltransferase (COMT), the lignin biosynthesis gene modified in many brown-midrib high-digestibility mutants of maize and sorghum, was targeted for downregulation in the small grain temperate cereal, barley (Hordeum vulgare), to improve straw properties. Phylogenetic and expression analyses identified the barley COMT orthologue(s)...
