Physiological health Age (PhysAge): a novel multi-system molecular timepiece predicts health and mortality in older adults

Authors: Thalida Em Arpawong, Belinda Hernandez, Claire Potter, Robert J. Leigh, Eric T. Klopack, Claire Hill, Giovanni Fiorito, Laura J. Smyth, Aisling M. O’Halloran, Bernadette McGuinness, Jessica D. Faul, Rose Anne Kenny, Amy Jayne McKnight, Eileen M. Crimmins, Cathal McCrory

Source: GeroScience
Arpawong, T E, Hernández, B, Potter, C, Leigh, R J, Klopak, E T, Hill, C, Fiorito, G, Smyth, L, O'Halloran, A M, McGuinness, B, Faul, J D, Kenny, R A, McKnight, A J, Crimmins, E M & McCrory, C 2025, 'Physiological health Age (PhysAge): A novel multi-system molecular timepiece predicts health and mortality in older adults', GeroScience. https://doi.org/10.1007/s11357-025-01832-1

Subject Terms: DNA methylation, name=Molecular Biology, epigenetics, ageing, name=Epidemiology, aging, Original Article, name=SDG 3 - Good Health and Well-being, name=Genetics

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/40889076
https://pmc.ncbi.nlm.nih.gov/articles/PMC12972485/
https://doi.org/10.1007/s11357-025-01832-1
https://pubmed.ncbi.nlm.nih.gov/40889076/
https://pure.qub.ac.uk/en/publications/9294fcd3-a24d-47dd-ab82-e46cd964bc50
https://doi.org/10.1007/s11357-025-01832-1
https://pureadmin.qub.ac.uk/ws/files/651954195/phys.pdf

Uridine phosphorylase-1 supports metastasis by altering immune and extracellular matrix landscapes

Authors: Declan Whyte, Sophie L Fisher, Christopher G J McKenzie, David Sumpton, Sandeep Dhayade, Emmanuel Dornier, Madeleine Moore, David Novo, Jasmine Peters, Robert Wiesheu, Michalis D Gounis, Dale M Watt, John B G Mackey, Amanda J McFarlane, Frédéric Fercoq, Carolina Dehesa Caballero, Keara L Redmond, Louise E Mitchell, Eve Anderson, Gemma Thomson, Ann Hedley, William Clark, Shannen Leroi, Lindsey N Dzierozynski, Juan J Apiz Saab, Caroline A Lewis, Alexander Muir, Christopher J Halbrook, Douglas Strathdee, Rene Jackstadt, Colin Nixon, Philip Dunne, Leo M Carlin, Iain R Macpherson, Edward W Roberts, Seth B Coffelt, Karen Blyth, Owen J Sansom, Jim C Norman, Johan Vande Voorde, Cassie J Clarke

Source: EMBO Rep
Whyte, D, Fisher, S L, McKenzie, C G J, Sumpton, D, Dhayade, S, Dornier, E, Moore, M, Novo, D, Peters, J, Wiesheu, R, Gounis, M D, Watt, D M, Mackey, J B G, McFarlane, A J, Fercoq, F, Dehesa Caballero, C, Redmond, K L, Mitchell, L E, Anderson, E, Thomson, G, Hedley, A, Clark, W, Leroi, S, Dzierozynski, L N, Apiz Saab, J J, Lewis, C A, Muir, A, Halbrook, C J, Strathdee, D, Jackstadt, R, Nixon, C, Dunne, P, Carlin, L M, Macpherson, I R, Roberts, E W, Coffelt, S B, Blyth, K, Sansom, O J, Norman, J C, Vande Voorde, J & Clarke, C J 2025, 'Uridine phosphorylase-1 supports metastasis by altering immune and extracellular matrix landscapes', EMBO Reports, vol. 26, no. 17, pp. 4248-4282. https://doi.org/10.1038/s44319-025-00520-7

Subject Terms: Mice, Knockout, Uridine Phosphorylase, name=Molecular Biology, Lung Neoplasms, T Cells, Neutrophils, T-Lymphocytes, Breast Neoplasms, Article, Metastasis, Extracellular Matrix, Fibronectins, Mice, name=Biochemistry, Cell Line, Tumor, Tumor Microenvironment, Animals, Humans, Female, name=SDG 3 - Good Health and Well-being, name=Genetics, Neoplasm Metastasis, Uracil, Fibronectin, Cell Proliferation

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/40702342
https://pubmed.ncbi.nlm.nih.gov/40702342/
https://pmc.ncbi.nlm.nih.gov/articles/PMC12420820/
https://doi.org/10.1038/s44319-025-00520-7
https://pureadmin.qub.ac.uk/ws/files/668650732/uri.pdf
https://pure.qub.ac.uk/en/publications/40ae565e-2800-4e91-b76e-7e6bf72b457e
https://doi.org/10.1038/s44319-025-00520-7

Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis

Authors: Loughrey, Paul, Mothojakan, Nadira, Iacovazzo, Donato, Arni, Ankit, Aflorei, Elena, Arnaldi, Giorgio, Barlier, Anne, Beckers, Albert, Bizzi, Mariana, Chanson, Philippe, Dal, Jakob, Daly, Adrian, Dang, Mary, David, Alessia, Andrade, Matheus, Else, Tobias, Elston, Marianne, Evans, Amy, Ferrau, Francesco, Fica, Simona, Flanagan, Daniel, Gadelha, Monica, Grossman, Ashley, Kapur, Sonal, Khoo, Bernard, Kumar, Ajith, Kumar-Sinha, Chandan, Lechan, Ronald, Ludman, Mark, Metherell, Louise, Miljic, Dragana, Mourougavelou, Vishnou, Musat, Madalina, Occhi, Gianluca, Owens, Martina, Pascanu, Ionela, Pinheiro, Sergio, Radian, Serban, Ribeiro-Oliveira, Antonio, Schöfl, Christof, Patel, Kashyap, Hernández-Ramírez, Laura, Korbonits, Márta

Contributors: PRZYBILSKI, CLARA

Source: Eur J Endocrinol
Loughrey, P B, Mothojakan, N B, Iacovazzo, D, Arni, A, Aflorei, E D, Arnaldi, G, Barlier, A, Beckers, A, Bizzi, M F, Chanson, P, Dal, J, Daly, A F, Dang, M N, David, A, Andrade, M D O, Else, T, Elston, M S, Evans, A, Ferrau, F, Fica, S, Flanagan, D, Gadelha, M R, Grossman, A B, Kapur, S, Khoo, B, Kumar, A V, Kumar-Sinha, C, Lechan, R M, Ludman, M, Metherell, L A, Miljic, D, Mourougavelou, V, Musat, M, Occhi, G, Owens, M, Pascanu, I, Pinheiro, S V B, Radian, S, Ribeiro-Oliveira, A, Schöfl, C, Patel, K A, Hernández-Ramírez, L C & Korbonits, M 2025, 'Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis', European Journal of Endocrinology, vol. 192, no. 4, pp. 385-397. https://doi.org/10.1093/ejendo/lvaf044
Loughrey, P B, Mothojakan, N B, Iacovazzo, D, Arni, A, Aflorei, E D, Arnaldi, G, Barlier, A, Beckers, A, Bizzi, M, Chanson, P, Dal, J, Daly, A F, Dang, M N, David, A, Andrade, M D O, Else, T, Elston, M S, Evans, A, Ferrau, F, Fica, S, Flanagan, D, Gadelha, M R, Grossman, A B, Kapur, S, Khoo, B, Kumar, A V, Kumar-Sinha, C, Lechan, R M, Ludman, M, Metherell, L A, Miljic, D, Mourougavelou, V, Musat, M, Occhi, G, Owens, M, Pascanu, I, Pinheiro, S V B, Radian, S, Ribeiro-Oliveira Jr, A, Schofl, C, Patel, K A, Hernandez, L C & Korbonits, M 2025, 'Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis', European Journal of Endocrinology, vol. 192, no. 4, pp. 385–397. https://doi.org/10.1093/ejendo/lvaf044

Subject Terms: genetic variant, Male, Adult, Adenoma, Adolescent, name=Genetics(clinical), Carcinogenesis, Mutation, Missense, name=Medicine(all), Gigantism, FIPA, Cohort Studies, Young Adult, Humans, Prolactinoma, Pituitary Neoplasms, name=SDG 3 - Good Health and Well-being, AIP, gigantism, Genetic variant, Original Research, [SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Growth Hormone-Secreting Pituitary Adenoma/genetics, Intracellular Signaling Peptides and Proteins, Middle Aged, Adenoma/genetics, Pituitary Neoplasms/genetics, prolactinoma, Acromegaly, name=Endocrinology, Diabetes and Metabolism, acromegaly, Female, Carcinogenesis/genetics, Growth Hormone-Secreting Pituitary Adenoma

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/40070360
https://www.scopus.com/pages/publications/105002811019
https://vbn.aau.dk/ws/files/777374881/Loughrey_et_al._2025_._Reassessing_the_role_of_the_p._Arg304Gln_missense_AIP_variant_in_pituitary_tumorigenesis.pdf
https://vbn.aau.dk/da/publications/fd31a8bb-5ffe-4bd7-8d93-83015838bbfb
https://doi.org/10.1093/ejendo/lvaf044

Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access

Authors: Ellard, Sian, Morgan, Sian, Wynn, Sarah L., Walker, Susan, Parrish, Andrew, Mein, Rachael, Juett, Ana, Ahn, Joo Wook, Berry, Ian, Cassidy, Emma Jane, Durkie, Miranda, Fish, Louise, Hall, Richard, Howard, Emma, Rankin, Julia, Wright, Caroline F., Deans, Zandra C., Scott, Richard H., Hill, Sue L., Baple, Emma L., Taylor, Robert W., Baty, David, Berg, Jonathan, Blair, Edward, Bowdin, Sarah, Bownass, Lucy, Bradley, Therese, Campbell, Jennifer, Charlton, Ruth, Clouston, Penny, Constantinou, Panayiotis, Cooper, Nicola, Delon, Isabelle, Downes, Kate, Ellis, David, Elmslie, Frances, Ghali, Neeti, Hagan, Richard, Heggarty, Shirley, Higgs, Jennifer, Hunt, David, Jenkins, Lucy, McAnulty, Ciaron, McCann, Emma, McDevitt, Trudi, McMullan, Dominic, Miedzybrodzka, Zosia, Moore, David, Newman, William, O'Sullivan, Dawn, Parker, Michael, Porteous, Mary, Ramsden, Simon, Rea, Gillian, Ruddy, Deborah, Ryan, Gavin, Sarkar, Ajoy, Sheridan, Eamonn, Short, John, Thomas, Ellen, Thomas, Simon, Varghese, Vinod, Vasudevan, Pradeep, Wakeling, Emma, Williams, Angharad, Wright, Michael

Source: J Med Genet

Subject Terms: name=Genetics, Genomics, United Kingdom, Health Services Accessibility, Rare Diseases, name=Genetics(clinical), Genetics, Humans, Genetic Testing, Position Statement, Ireland

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/39327040

Pharmacogenomic study of the effects of saxagliptin on glucose control and hypoglycemic events

Authors: Pilon, Marc Olivier, de Denus, Simon, Asselin, Géraldine, Legault, Marc André, Ngongang Kwandjang, Hervira Brenda, Barhdadi, Amina, Lemieux Perreault, Louis Philippe, Valois, Diane, Mongrain, Ian, Haefliger, Carolina, Paul, Dirk S., Pearson, Ewan R., Tardif, Jean Claude, Dubé, Marie Pierre

Source: Pilon, M O, de Denus, S, Asselin, G, Legault, M A, Ngongang Kwandjang, H B, Barhdadi, A, Lemieux Perreault, L P, Valois, D, Mongrain, I, Haefliger, C, Paul, D S, Pearson, E R, Tardif, J C & Dubé, M P 2026, 'Pharmacogenomic study of the effects of saxagliptin on glucose control and hypoglycemic events', BMC Medical Genomics, vol. 19, no. 1, 72. https://doi.org/10.1186/s12920-026-02348-z

Subject Terms: Genome-wide association studies, HbA1c, Hypoglycemic event, Pharmacogenomics, Saxagliptin, /dk/atira/pure/subjectarea/asjc/1300/1311, name=Genetics, /dk/atira/pure/subjectarea/asjc/2700/2716, name=Genetics(clinical)

File Description: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/41882721; info:eu-repo/semantics/altIdentifier/eissn/1755-8794

Availability: https://discovery.dundee.ac.uk/en/publications/201de844-5613-47c2-9bd4-93b881a74aff
https://doi.org/10.1186/s12920-026-02348-z
https://discovery.dundee.ac.uk/ws/files/169603662/s12920-026-02348-z.pdf
https://www.scopus.com/pages/publications/105037763007

Type 2 diabetes risk alleles in peptidyl-glycine alpha-amidating monooxygenase influence GLP-1 levels and response to GLP-1 receptor agonists

Authors: Umapathysivam, Mahesh M., Araldi, Elisa, Hastoy, Benoit, Dawed, Adem Y., Vatandaslar, Hasan, Mayrhofer, Johanna E., Lindquist, Peter, Silva, Pamuditha N., Goga, Algera, Trüllinger, Geraldine O., Godbersen, Svenja, Sengupta, Shahana, Kaufmann, Adrian, Thomsen, Søren Krogsgaard, Hartmann, Bolette, Chen, Yi Chun, Jonsson, Anna E., Kabakci, Hasan, Thaman, Swaraj, Grarup, Niels, Have, Christian T., Pallo, Lindsay P., Faerch, Kristine, Gjesing, Anette P., Nawaz, Sameena, Cheeseman, Jane, Neville, Matthew J., Pedersen, Oluf, Walker, Mark, Sun, Han, Jennison, Christopher, Hattersley, Andrew T., Rehfeld, Jens F., Holman, Rury R., Verchere, Bruce C., Hansen, Torben, Karpe, Fredrik, Holst, Jens J., Rosenkilde, Mette M., Jones, Angus G., Ristow, Michael, McCarthy, Mark I., Pearson, Ewan R., Stoffel, Markus, Gloyn, Anna L.

Source: Umapathysivam, M M, Araldi, E, Hastoy, B, Dawed, A Y, Vatandaslar, H, Mayrhofer, J E, Lindquist, P, Silva, P N, Goga, A, Trüllinger, G O, Godbersen, S, Sengupta, S, Kaufmann, A, Thomsen, S K, Hartmann, B, Chen, Y C, Jonsson, A E, Kabakci, H, Thaman, S, Grarup, N, Have, C T, Pallo, L P, Faerch, K, Gjesing, A P, Nawaz, S, Cheeseman, J, Neville, M J, Pedersen, O, Walker, M, Sun, H, Jennison, C, Hattersley, A T, Rehfeld, J F, Holman, R R, Verchere, B C, Hansen, T, Karpe, F, Holst, J J, Rosenkilde, M M, Jones, A G, ....

Subject Terms: /dk/atira/pure/subjectarea/asjc/1300/1313, name=Molecular Medicine, /dk/atira/pure/subjectarea/asjc/1300/1312, name=Molecular Biology, /dk/atira/pure/subjectarea/asjc/1300/1311, name=Genetics, /dk/atira/pure/subjectarea/asjc/2700/2716, name=Genetics(clinical)

File Description: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/41906117; info:eu-repo/semantics/altIdentifier/pissn/1756-994X

Availability: https://discovery.dundee.ac.uk/en/publications/3183941f-fb41-4a06-8091-191ad1faf84f
https://doi.org/10.1186/s13073-026-01630-0
https://discovery.dundee.ac.uk/ws/files/168648942/s13073-026-01630-0.pdf
https://www.scopus.com/pages/publications/105035706304

Genetic liability to psoriasis predicts severe disease outcomes

Authors: Saklatvala, Jake R., Lessard, Samuel, Teder-Laving, Maris, Thomas, Laurent F., Ramessur, Ravi, Zierer, Jonas, Åsvold, Bjørn Olav, Barton, Anne, Baudry, David, Bowes, John, Brumpton, Ben, Bruno, Sandro, Chandran, Vinod, Chatelain, Clément, de Rinaldis, Emanuele, Elder, James T., Ellinghaus, David, Foerster, John, Franke, Andre, Gladman, Dafna D., Gulliver, Wayne, Hüffmeier, Ulrike, Huilaja, Laura, Hveem, Kristian, Khader, Shameer, Kingo, Külli, Klinger, Katherine, Kolbinger, Frank, Kõks, Sulev, Liao, Wilson, Nair, Rajan P., Nititham, Joanne, Rahman, Proton, Reis, André, Sagoo, Manpreet K., Stuart, Philip E., Tasanen, Kaisa, Traks, Tanel, Tsoi, Lam C., Uebe, Steffen, Watts, Katie, Barker, Jonathan N., Mahil, Satveer K., Langan, Sinéad M., Brown, Sara J., Løset, Mari, Paternoster, Lavinia, Dand, Nick, Smith, Catherine H., Simpson, Michael A.

Source: Saklatvala, J R, Lessard, S, Teder-Laving, M, Thomas, L F, Ramessur, R, Zierer, J, Åsvold, B O, Barton, A, Baudry, D, Bowes, J, Brumpton, B, Bruno, S, Chandran, V, Chatelain, C, de Rinaldis, E, Elder, J T, Ellinghaus, D, Foerster, J, Franke, A, Gladman, D D, Gulliver, W, Hüffmeier, U, Huilaja, L, Hveem, K, Khader, S, Kingo, K, Klinger, K, Kolbinger, F, Kõks, S, Liao, W, Nair, R P, Nititham, J, Rahman, P, Reis, A, Sagoo, M K, Stuart, P E, Tasanen, K, Traks, T, Tsoi, L C, Uebe, S, Watts, K, Barker, J N, Mahil, S K, Langan, ....

Subject Terms: Biomarker, Dermatology, Disease progression, Genetics, Genome-wide association study, Immune-mediated inflammatory disease, Polygenic risk score, Severity, Skin disease, /dk/atira/pure/subjectarea/asjc/1300/1313, name=Molecular Medicine, /dk/atira/pure/subjectarea/asjc/1300/1312, name=Molecular Biology, /dk/atira/pure/subjectarea/asjc/1300/1311, name=Genetics, /dk/atira/pure/subjectarea/asjc/2700/2716, name=Genetics(clinical)

File Description: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/41408349; info:eu-repo/semantics/altIdentifier/pissn/1756-994X

Availability: https://discovery.dundee.ac.uk/en/publications/634b79da-934d-493d-b03d-7021ee9305f3
https://doi.org/10.1186/s13073-025-01561-2
https://discovery.dundee.ac.uk/ws/files/163091305/s13073-025-01561-2.pdf
https://www.scopus.com/pages/publications/105029003805

Whole-genome resequencing of the wild barley diversity collection:a resource for identifying and exploiting genetic variation for cultivated barley improvement

Authors: Spanner, Rebecca, Sallam, Ahmad H., Guo, Yu, Jayakodi, Murukarthick, Himmelbach, Axel, Fiebig, Anne, Simmons, Jamie, Bethke, Gerit, Lee, Yoonjung, Pacheco Arge, Luis Willian, Qiu, Yinjie, Badea, Ana, Baum, Michael, Belzile, François, Ben-David, Roi, Brueggeman, Robert, Case, Austin, Cattivelli, Luigi, Davis, Michael, Dockter, Christoph, Doležel, Jaroslav, Dreiseitl, Antonin, Gavin, Ryan, Glick, Lior, Greiner, Stephan, Hamilton, Ruth, Hayes, Patrick M., Heisel, Scott, Henson, Cynthia, Kilian, Benjamin, Komatsuda, Takao, Li, Chengdao, Liu, Cheng, Mahalingam, Ramamurthy, Maruschewski, Maren, Matny, Oadi, Maurer, Andreas, Mayer, Klaus F.X., Mayrose, Itay, Moscou, Matthew, Muehlbauer, Gary J., Oono, Youko, Ordon, Frank, Özkan, Hakan, Pecinka, Ales, Perovic, Dragan, Pillen, Klaus, Pourkheirandish, Mohammad, Russell, Joanne, Šafář, Jan, Salvi, Silvio, Sanchez-Garcia, Miguel, Sato, Kazuhiro, Schmutzer, Thomas, Scholz, Uwe, Scott, Jeness, Singh Brar, Gurcharn, Smith, Kevin P., Sorrells, Mark E., Spannagl, Manuel, Stein, Nils, Tondelli, Alessandro, Tuberosa, Roberto, Tucker, James, Turkington, Thomas, Valkoun, Jan, Verma, Ramesh Pal Singh, Vinje, Marcus A., von Korff, Maria, Walling, Jason G., Waugh, Robbie, Wise, Roger P., Wulff, Brande B.H., Yang, Shengming, Zhang, Guoping, Morrell, Peter L., Mascher, Martin, Steffenson, Brian J.

Source: Spanner, R, Sallam, A H, Guo, Y, Jayakodi, M, Himmelbach, A, Fiebig, A, Simmons, J, Bethke, G, Lee, Y, Pacheco Arge, L W, Qiu, Y, Badea, A, Baum, M, Belzile, F, Ben-David, R, Brueggeman, R, Case, A, Cattivelli, L, Davis, M, Dockter, C, Doležel, J, Dreiseitl, A, Gavin, R, Glick, L, Greiner, S, Hamilton, R, Hayes, P M, Heisel, S, Henson, C, Kilian, B, Komatsuda, T, Li, C, Liu, C, Mahalingam, R, Maruschewski, M, Matny, O, Maurer, A, Mayer, K F X, Mayrose, I, Moscou, M, Muehlbauer, G J, Oono, Y, Ordon, F, Özkan, H, Pecinka, A, Perovic, D, ....

Subject Terms: Hordeum vulgare subsp. spontaneum, agronomic traits, genome-wide association study, whole genome sequence data, /dk/atira/pure/subjectarea/asjc/1300/1312, name=Molecular Biology, /dk/atira/pure/subjectarea/asjc/1300/1311, name=Genetics, /dk/atira/pure/subjectarea/asjc/2700/2716, name=Genetics(clinical)

File Description: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/41206694; info:eu-repo/semantics/altIdentifier/pissn/2160-1836

Availability: https://discovery.dundee.ac.uk/en/publications/3e845e80-3b47-41d1-b685-63c7ccb1de23
https://doi.org/10.1093/g3journal/jkaf261
https://discovery.dundee.ac.uk/ws/files/162113155/jkaf261.pdf
https://www.scopus.com/pages/publications/105026870761

The impact of adverse childhood experiences on DNA methylation age:A systematic review and meta-analysis

Authors: Russell, Hannah, Angus, Gregor, Singleton, Sam, Bell, Christopher G., Hales, Tim G

Source: Russell, H, Angus, G, Singleton, S, Bell, C G & Hales, T G 2026, 'The impact of adverse childhood experiences on DNA methylation age : A systematic review and meta-analysis', Clinical Epigenetics, vol. 18, no. 1, 33. https://doi.org/10.1186/s13148-025-02047-z

Subject Terms: Trauma, neglect, biological age, epigenetic clock, /dk/atira/pure/subjectarea/asjc/1300/1312, name=Molecular Biology, /dk/atira/pure/subjectarea/asjc/1300/1311, name=Genetics, /dk/atira/pure/subjectarea/asjc/1300/1309, name=Developmental Biology, /dk/atira/pure/subjectarea/asjc/2700/2716, name=Genetics(clinical)

File Description: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/41580776; info:eu-repo/semantics/altIdentifier/pissn/1868-7075; info:eu-repo/semantics/altIdentifier/eissn/1868-7083

Availability: https://discovery.dundee.ac.uk/en/publications/592e0a22-45f3-4b25-8aa4-48a114607158
https://doi.org/10.1186/s13148-025-02047-z
https://discovery.dundee.ac.uk/ws/files/164007751/s13148-025-02047-z.pdf
https://www.scopus.com/pages/publications/105030244184

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

Authors: D'Alessio, Alfonso Manuel, Yuan, Huijie, Soria, Leandro Raul, Hansen, Sara Basse, Boffa, Iolanda, Arena, Paola, Attianese, Benedetta, O'Sullivan, Maureen, Cullinan, Noelle, Pang, Lewis, van Aalten, Daan Marinus Ferdinand, Brunetti-Pierri, Nicola, Lynch, Sally Ann

Source: D'Alessio, A M, Yuan, H, Soria, L R, Hansen, S B, Boffa, I, Arena, P, Attianese, B, O'Sullivan, M, Cullinan, N, Pang, L, van Aalten, D M F, Brunetti-Pierri, N & Lynch, S A 2026, 'An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma', American Journal of Medical Genetics, Part A, vol. 200, no. 2, e64275, pp. 502-510. https://doi.org/10.1002/ajmg.a.64275

Subject Terms: congenital disorder of glycosylation, hepatoblastoma, intellectual disability, O-GlcNAc transferase, OGT variant, OGT-CDG, rare disease, /dk/atira/pure/subjectarea/asjc/1300/1311, name=Genetics, /dk/atira/pure/subjectarea/asjc/2700/2716, name=Genetics(clinical)

File Description: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/41030119; info:eu-repo/semantics/altIdentifier/pissn/1552-4825

Availability: https://discovery.dundee.ac.uk/en/publications/07dd881c-5f65-46a5-85b3-d0444e18bd0c
https://doi.org/10.1002/ajmg.a.64275
https://discovery.dundee.ac.uk/ws/files/158752421/American_J_of_Med_Genetics_Pt_A_-_2025_-_D_Alessio_-_An_OGT_Missense_Variant_With_Impaired_Enzyme_Activity_in_a_Child_With.pdf
https://www.scopus.com/pages/publications/105017402558

Genetically Engineered Probiotic Nanoplatform for Ultrasound-Enhanced Colorectal Cancer Therapy via Targeted Delivery, Immune Modulation, and Anti-Angiogenesis

Authors: Long, Jie, Shang, Tongrui, Mo, Xuezhong, Yu, Yunfang, Lin, Feng, Liang, Zixuan, Monteiro, Olivia, Baptista-Hon, Daniel, Foo, Dominic Chi Chung, Ng, Lui, Liang, Renchuan, Tong, Man, Tang, Weizhong, Zhang, Kang, Huang, Yunxi

Source: Long, J, Shang, T, Mo, X, Yu, Y, Lin, F, Liang, Z, Monteiro, O, Baptista-Hon, D, Foo, D C C, Ng, L, Liang, R, Tong, M, Tang, W, Zhang, K & Huang, Y 2026, 'Genetically Engineered Probiotic Nanoplatform for Ultrasound-Enhanced Colorectal Cancer Therapy via Targeted Delivery, Immune Modulation, and Anti-Angiogenesis', MedComm, vol. 7, no. 8, e70871. https://doi.org/10.1002/mco2.70871

Subject Terms: acoustic reporter genes, chinese medicine curcumin, colorectal cancer, Escherichia coli Nissle 1917, tumor microenvironment, /dk/atira/pure/subjectarea/asjc/2700/2723, name=Immunology and Allergy, /dk/atira/pure/subjectarea/asjc/1300/1311, name=Genetics, /dk/atira/pure/subjectarea/asjc/2700/2730, name=Oncology, /dk/atira/pure/subjectarea/asjc/3000/3002, name=Drug Discovery, /dk/atira/pure/subjectarea/asjc/2700/2716, name=Genetics(clinical), /dk/atira/pure/subjectarea/asjc/1300/1307, name=Cell Biology, /dk/atira/pure/subjectarea/asjc/2700/2704, name=Biochemistry, medical

File Description: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/42491488

Availability: https://discovery.dundee.ac.uk/en/publications/c307c353-3c9c-4932-aa8c-108082e79032
https://doi.org/10.1002/mco2.70871
https://discovery.dundee.ac.uk/ws/files/175934409/MedComm_-_2026_-_Long_-_Genetically_Engineered_Probiotic_Nanoplatform_for_Ultrasound_Enhanced_Colorectal_Cancer_Therapy_via.pdf
https://www.scopus.com/pages/publications/105045197107

An improved Solanum verrucosum genome provides insight into potato centromeres and epigenetic regulation

Authors: Smith, Moray, Kaur, Amanpreet, Singh, Vikrant, Jones, John T, Hein, Ingo

Source: Smith, M, Kaur, A, Singh, V, Jones, J T & Hein, I 2026, 'An improved Solanum verrucosum genome provides insight into potato centromeres and epigenetic regulation', G3: Genes, Genomes, Genetics, vol. 16, no. 6. https://doi.org/10.1093/g3journal/jkag089

Subject Terms: Solanum verrucosum, centromere, disease resistance, genome assembly, methylation, self-compatibility, /dk/atira/pure/subjectarea/asjc/1300/1312, name=Molecular Biology, /dk/atira/pure/subjectarea/asjc/1300/1311, name=Genetics, /dk/atira/pure/subjectarea/asjc/2700/2716, name=Genetics(clinical)

File Description: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/41934284; info:eu-repo/semantics/altIdentifier/pissn/2160-1836

Availability: https://discovery.dundee.ac.uk/en/publications/3609c92b-315e-4103-8537-d277aca2ebf4
https://doi.org/10.1093/g3journal/jkag089
https://discovery.dundee.ac.uk/ws/files/172801250/jkag089.pdf

Regulatory Rewiring Drives Intraspecies Competition in Bacillus subtilis

Authors: Kalamara, Margarita, Bonsall, Alistair, Griffin, Jonathan, Carneiro, Joana, Gierlinski, Marek, Eigentler, Lukas, Stevenson, David, Wood, Amy, Porter, Michael, Dorfmueller, Helge, MacPhee, Cait E., Abbott, James, Stanley-Wall, Nicola

Source: Kalamara, M, Bonsall, A, Griffin, J, Carneiro, J, Gierlinski, M, Eigentler, L, Stevenson, D, Wood, A, Porter, M, Dorfmueller, H, MacPhee, C E, Abbott, J & Stanley-Wall, N 2026, 'Regulatory Rewiring Drives Intraspecies Competition in Bacillus subtilis', PLoS Genetics, vol. 22, no. 2, e1012050, pp. e1012050. https://doi.org/10.1371/journal.pgen.1012050

Subject Terms: Bacillus subtilis, Intraspecies competition, Quorum sensing, ComQXPA system, Experimental evolution, Regulatory rewiring, Sensor kinase mutations, /dk/atira/pure/subjectarea/asjc/1100/1105, name=Ecology, Evolution, Behavior and Systematics, /dk/atira/pure/subjectarea/asjc/1300/1312, name=Molecular Biology, /dk/atira/pure/subjectarea/asjc/1300/1311, name=Genetics, /dk/atira/pure/subjectarea/asjc/2700/2716, name=Genetics(clinical), /dk/atira/pure/subjectarea/asjc/1300/1306, name=Cancer Research

File Description: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/41701782; info:eu-repo/semantics/altIdentifier/pissn/1553-7390; info:eu-repo/semantics/altIdentifier/eissn/1553-7404; info:eu-repo/semantics/reference/pmid/42013052

Availability: https://discovery.dundee.ac.uk/en/publications/3320335a-65d3-40f7-86a8-2c072d8d45f2
https://doi.org/10.1371/journal.pgen.1012050
https://discovery.dundee.ac.uk/ws/files/164484665/journal.pgen.1012050.pdf
https://www.scopus.com/pages/publications/105031381937

Feed additives for methane mitigation: A guideline to uncover the mode of action of antimethanogenic feed additives for ruminants

Authors: Belanche, Alejandro, Bannink, André, Dijkstra, Jan, Durmic, Zoey, Garcia, Florencia, Santos, Fernanda G., Huws, Sharon, Jeyanathan, Jeyamalar, Lund, Peter, Mackie, Roderick I., McAllister, Tim A., Morgavi, Diego P., Muetzel, Stefan, Pitta, Dipti W., Yáñez-Ruiz, David R., Ungerfeld, Emilio M.

Contributors: Agencia Estatal de Investigación (España), Ministry of Agriculture, Nature and Food Quality (The Netherlands), European Commission, Fondo Nacional de Desarrollo Científico y Tecnológico (Chile), Yáñez-Ruiz, David R. [0000-0003-4397-3905], Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72], Cingotti, Thalie

Source: Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Universidad de Zaragoza
Journal of Dairy Science, Vol 108, Iss 1, Pp 375-394 (2025)
Belanche, A, Bannink, A, Dijkstra, J, Durmic, Z, Garcia, F, Santos, F G, Huws, S, Jeyanathan, J, Lund, P, Mackie, R I, McAllister, T A, Morgavi, D P, Muetzel, S, Pitta, D W, Yáñez-Ruiz, D R & Ungerfeld, E M 2025, 'Feed additives for methane mitigation: A guideline to uncover the mode of action of antimethanogenic feed additives for ruminants', Journal of Dairy Science, vol. 108, no. 1, pp. 375-394. https://doi.org/10.3168/jds.2024-25046
JOURNAL OF DAIRY SCIENCE
Belanche, A, Bannink, A, Dijkstra, J, Durmic, Z, Garcia, F, Santos, F G, Huws, S, Jeyanathan, J, Lund, P, Mackie, R I, McAllister, T A, Morgavi, D P, Muetzel, S, Pitta, D W, Yáñez-Ruiz, D R & Ungerfeld, E M 2025, 'Feed additives for methane mitigation : A guideline to uncover the mode of action of antimethanogenic feed additives for ruminants', Journal of Dairy Science, vol. 108, no. 1, pp. 375-394. https://doi.org/10.3168/jds.2024-25046
Journal of Dairy Science

Subject Terms: Agriculture and Food Sciences, DAIRY, Rumen, Mitigation, Methanogens, name=Genetics, name=Animal Science and Zoology, MONENSIN, rumen methanogenesis, mitigation, name=Food Science, SF221-250, rumen microbiota, Animals, methanogens, COENZYME-M REDUCTASE, ASPARAGOPSIS-TAXIFORMIS, FERMENTATION, Rumen methanogenesis, IN-VITRO, Ruminants, SF250.5-275, Animal Feed, Diet, [SDV] Life Sciences [q-bio], Dairying, BEEF-CATTLE, DIETARY NITRATE, Rumen microbiota, BACTERIA, RUMEN METHANOGENESIS, Methane, Dairy processing. Dairy products

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/39725503
http://hdl.handle.net/10261/388233
http://zaguan.unizar.es/record/148654
https://doaj.org/article/03c6ce0271ad4ad6a0ba047f81ec827e
https://research.wur.nl/en/publications/feed-additives-for-methane-mitigation-a-guideline-to-uncover-the-
https://doi.org/10.3168/jds.2024-25046
https://biblio.ugent.be/publication/01JGP2CJEV0VGSJH413KXPCD1Z/file/01JJ23T5K5230F3XZTSA4GDHS0
https://biblio.ugent.be/publication/01JGP2CJEV0VGSJH413KXPCD1Z
http://hdl.handle.net/1854/LU-01JGP2CJEV0VGSJH413KXPCD1Z
http://doi.org/10.3168/jds.2024-25046
https://pure.au.dk/portal/en/publications/e6937066-48a8-41be-a21e-2c27c4cffd3f
https://doi.org/10.3168/jds.2024-25046
https://www.scopus.com/pages/publications/85212854898

Evidence for gene flow and trait reversal during radiation of Mexican Goodeid fish

Authors: Leeban H. Yusuf, Yolitzi Saldívar Lemus, Peter Thorpe, Constantino Macías Garcia, Michael G. Ritchie

Contributors: The Wellcome Trust, University of St Andrews.School of Biology, University of St Andrews.St Andrews Bioinformatics Unit, University of St Andrews.Centre for Biological Diversity, University of St Andrews.Institute of Behavioural and Neural Sciences

Source: Heredity (Edinb)

Subject Terms: Gene Flow, 0301 basic medicine, 0303 health sciences, Genome, Genetic Speciation, name=Genetics, QH301 Biology, DAS, Article, QH301, Phylogeography, Cyprinodontiformes, 03 medical and health sciences, name=Genetics(clinical), Animals, 14. Life underwater, Selection, Genetic, Mexico, Phylogeny

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/38858547
https://hdl.handle.net/10023/30033
https://www.scopus.com/pages/publications/85195457340

True-T – Improving T-cell response quantification with holistic artificial intelligence based prediction in immunohistochemistry images

Authors: Yasmine Makhlouf, Vivek Kumar Singh, Stephanie Craig, Aoife McArdle, Dominique French, Maurice B. Loughrey, Nicola Oliver, Juvenal Baena Acevedo, Paul O’Reilly, Jacqueline A. James, Perry Maxwell, Manuel Salto-Tellez

Contributors: Salto-Tellez, Manuel

Source: Comput Struct Biotechnol J
Makhlouf, Y, Singh, V K, Craig, S, McArdle, A, French, D, Loughrey, M B, Oliver, N, Acevedo, J B, O'Reilly, P, James, J A, Maxwell, P & Salto-Tellez, M 2024, 'True-T -improving T-cell response quantification with holistic artificial intelligence based prediction in immunohistochemistry images', Computational and Structural Biotechnology Journal, vol. 23, pp. 174-185. https://doi.org/10.1016/j.csbj.2023.11.048

Subject Terms: Artificial intelligence, name=Genetics, name=Biotechnology, name=Biochemistry, name=Structural Biology, Digital pathology, name=SDG 3 - Good Health and Well-being, name=Biophysics, name=Computer Science Applications, 4. Education, Response, 3. Good health, Immune, Computational biotechnology, Research Article

File Description: application/pdf; Electronic-eCollection

Access URL: https://pubmed.ncbi.nlm.nih.gov/38146436
https://pureadmin.qub.ac.uk/ws/files/551684667/1-s2.0-S2001037023004646-main.pdf
https://doi.org/10.1016/j.csbj.2023.11.048
https://pure.qub.ac.uk/en/publications/0c277282-0c06-4e57-84bd-d49955567b57

Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy

Authors: Sean L. Zheng, Albert Henry, Douglas Cannie, Michael Lee, David Miller, Kathryn A. McGurk, Isabelle Bond, Xiao Xu, Hanane Issa, Catherine Francis, Antonio De Marvao, Pantazis I. Theotokis, Rachel J. Buchan, Doug Speed, Erik Abner, Lance Adams, Krishna G. Aragam, Johan Ärnlöv, Anna Axelsson Raja, Joshua D. Backman, John Baksi, Paul J. R. Barton, Kiran J. Biddinger, Eric Boersma, Jeffrey Brandimarto, Søren Brunak, Henning Bundgaard, David J. Carey, Philippe Charron, James P. Cook, Stuart A. Cook, Spiros Denaxas, Jean-François Deleuze, Alexander S. Doney, Perry Elliott, Christian Erikstrup, Tõnu Esko, Eric H. Farber-Eger, Chris Finan, Sophie Garnier, Jonas Ghouse, Vilmantas Giedraitis, Daniel F. Guðbjartsson, Christopher M. Haggerty, Brian P. Halliday, Anna Helgadottir, Harry Hemingway, Hans L. Hillege, Isabella Kardys, Lars Lind, Cecilia M. Lindgren, Brandon D. Lowery, Charlotte Manisty, Kenneth B. Margulies, James C. Moon, Ify R. Mordi, Michael P. Morley, Andrew D. Morris, Andrew P. Morris, Lori Morton, Mahdad Noursadeghi, Sisse R. Ostrowski, Anjali T. Owens, Colin N. A. Palmer, Antonis Pantazis, Ole B. V. Pedersen, Sanjay K. Prasad, Akshay Shekhar, Diane T. Smelser, Sundararajan Srinivasan, Kari Stefansson, Garðar Sveinbjörnsson, Petros Syrris, Mari-Liis Tammesoo, Upasana Tayal, Maris Teder-Laving, Guðmundur Thorgeirsson, Unnur Thorsteinsdottir, Vinicius Tragante, David-Alexandre Trégouët, Thomas A. Treibel, Henrik Ullum, Ana M. Valdes, Jessica van Setten, Marion van Vugt, Abirami Veluchamy, W. M. Monique Verschuren, Eric Villard, Yifan Yang, Folkert W. Asselbergs, Marie-Pierre Dube, Michael E. Dunn, Patrick T. Ellinor, Chim C. Lang, Nilesh J. Samani, Svati H. Shah, J. Gustav Smith, Sundarajan Srinivasan, Ramachandran S. Vasan, W. M. Monique Verschuuren, Quinn Wells, Thomas P. Cappola, Aroon D. Hingorani, Declan P. O’Regan, Hilma Holm, Michela Noseda, James S. Ware, R. Thomas Lumbers

Contributors: RIVM Publications Repository

Source: Nat Genet
Zheng, S L, Henry, A, Cannie, D, Lee, M, Miller, D, McGurk, K A, Bond, I, Xu, X, Issa, H, Francis, C, De Marvao, A, Theotokis, P I, Buchan, R J, Speed, D, Abner, E, Adams, L, Aragam, K G, Ärnlöv, J, Raja, A A, Backman, J D, Baksi, J, Barton, P J R, Biddinger, K J, Boersma, E & COVIDsortium 2024, 'Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy', Nature Genetics, vol. 56, no. 12, 2254, pp. 2646-2658. https://doi.org/10.1038/s41588-024-01952-y
Zheng, S L, Henry, A, Cannie, D, Lee, M, Miller, D, McGurk, K A, Bond, I, Xu, X, Issa, H, Francis, C, De Marvao, A, Theotokis, P I, Buchan, R J, Speed, D, Abner, E, Adams, L, Aragam, K G, Ärnlöv, J, Raja, A A, Backman, J D, Baksi, J, Barton, P J R, Biddinger, K J, Boersma, E, Brandimarto, J, Brunak, S, Bundgaard, H, Carey, D J, Charron, P, Cook, J P, Cook, S A, Denaxas, S, Deleuze, J F, Doney, A S, Elliott, P, Erikstrup, C, Esko, T, Farber-Eger, E H, Finan, C, Garnier, S, Ghouse, J, Giedraitis, V, Guðbjartsson, D F, Haggerty, C M, Halliday, B P, Lind, L, Ostrowski, S R, Pedersen, O B V, Ullum, H, Pedersen, O B V, COVIDsortium, DBDS Genomic Consortium, Estonian Biobank Research Team & HERMES Consortium 2024, ' Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy ', Nature Genetics, vol. 56, no. 12, pp. 2646–2658 . https://doi.org/10.1038/s41588-024-01952-y

Subject Terms: Cardiomyopathy, Dilated, Male, 0301 basic medicine, Multifactorial Inheritance, 0303 health sciences, name=Genetics, Nedd4 Ubiquitin Protein Ligases, Quantitative Trait Loci, Polymorphism, Single Nucleotide, Medicinsk genetik och genomik, Article, Medical Genetics and Genomics, 03 medical and health sciences, Kardiologi och kardiovaskulära sjukdomar, Humans, Genetic Predisposition to Disease, Female, Cardiology and Cardiovascular Disease, Genome-Wide Association Study

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/39572783
https://pure.eur.nl/en/publications/80542c1c-ef0f-4652-8d2f-f77f47cb5ebf
https://doi.org/10.1038/s41588-024-01952-y
https://www.scopus.com/pages/publications/85210019601
https://doi.org/10.1038/s41588-024-01952-y
https://pure.au.dk/portal/en/publications/b18eae6d-8eed-4240-9312-5f6c4ac07e36
https://pure.au.dk/ws/files/444549160/s41588-024-01952-y.pdf
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-546856
http://urn.kb.se/resolve?urn=urn:nbn:se:du-49739
https://rivm.openrepository.com/handle/10029/627957
https://rivm.openrepository.com/handle/10029/628123

Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort

Authors: Madeline Pearson, Ruth McGowan, Philip Greene, Wayne Lam, Zofia Miedzybrodzka, Jonathan Berg

Contributors: University of Aberdeen.Applied Medicine

Source: Eur J Hum Genet
Pearson, M, McGowan, R, Greene, P, Lam, W, Miedzybrodzka, Z & Berg, J 2024, 'Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort', European journal of human genetics : EJHG, vol. 32, no. 6, pp. 731-735. https://doi.org/10.1038/s41431-024-01607-w

Subject Terms: Male, Adult, 0301 basic medicine, Adolescent, name=Genetics, R Medicine (General), Brief Communication, Telangiectasia, Hereditary Hemorrhagic/genetics, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Neoplastic Syndromes, Hereditary, Hereditary Hemorrhagic/genetics, Genetics, Humans, Genetics(clinical), Neoplastic Syndromes, Child, Intestinal Polyposis/genetics, Smad4 Protein, Retrospective Studies, Aged, 0303 health sciences, Intestinal Polyposis, Neoplastic Syndromes, Hereditary/genetics, Middle Aged, R1, 3. Good health, name=Genetics(clinical), Scotland, Telangiectasia, Mutation, Smad4 Protein/genetics, Hereditary/genetics, Telangiectasia, Hereditary Hemorrhagic, Female

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/38627541
https://www.mendeley.com/catalogue/92f01f1d-93e6-362d-ac55-27d73c762270/
https://doi.org/10.1038/s41431-024-01607-w
https://www.scopus.com/pages/publications/85190609038
https://research.manchester.ac.uk/en/publications/f5e3e9d1-3b0c-4c40-acb7-486b0b30a583

LsRTDv1, a reference transcript dataset for accurate transcript‐specific expression analysis in lettuce

Authors: Mehmet Fatih Kara, Wenbin Guo, Runxuan Zhang, Katherine Denby

Source: The Plant Journal. 120:370-386

Subject Terms: 0301 basic medicine, name=Genetics, transcription start and end sites, transcript isoforms, name=Cell Biology, alternative splicing, 03 medical and health sciences, Gene Expression Regulation, Plant, Plant Diseases, 0303 health sciences, Lactuca sativa, Sequence Analysis, RNA, Gene Expression Profiling, lettuce, Alternative Splicing, gene expression, Botrytis, RNA-seq analysis, name=Plant Science, Transcriptome, transcriptome, Lactuca

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/39145419
https://eprints.whiterose.ac.uk/id/eprint/216315/

Fungal colonization and penetration of mortar as a suitable simulant for concrete: Implications for fungal biodeterioration in the built environment

Authors: Geoffrey Michael Gadd, Louise McGregor

Source: Fungal Biology. 128:1899-1906

Subject Terms: Biomineralization, Evolution, Construction Materials, name=Genetics, Fungi, Hyphae, Bioprecipitation, Geomicrobiology, name=Infectious Diseases, Geomycology, Mortar, Behavior and Systematics, name=Ecology, Calcium, Concrete

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/39059845