Results 261 to 270 of about 319,715 (326)

UK Biobank: Transforming drug discovery and precision medicine

British Journal of Pharmacology, Volume 183, Issue 2, Page 234-248, January 2026.
UK Biobank is a large‐scale, prospective study with extensive genetic and phenotypic data on half a million individuals. Volunteers, aged between 40 and 69 years, were recruited between 2006 and 2010 from the general population of the United Kingdom.
Jelena Bešević, Saredo Said, Reka Nagy, Yalda Jamshidi, Christopher D. Whelan, Lauren Carson, Martin K. Rutter, Adam J. Lewandowski, Mark Effingham, Rory Collins, Ben Lacey, Naomi E. Allen   +11 more
wiley   +1 more source

Evaluating the Clinical Utility of Genomic Sequencing After Perinatal Death

Clinical Genetics, Volume 109, Issue 1, Page 109-121, January 2026.
Genomic sequencing after perinatal death is shown to provide meaningful improvements in counselling, recurrence risk estimation, and family planning—even when a genetic diagnosis is not found. ABSTRACT Following termination of pregnancy for fetal anomaly or unexplained perinatal death (PND), clinical geneticists advise on possible genetic causes and ...
Camille M. Schubert, Matilda R. Jackson, Christopher P. Barnett, Hamish S. Scott, Thomas Sullivan, Stephen Goodall, Tracy Merlin, the Genomic Autopsy Study Research Network, Abhi Kulkarni, Adrian Charles, Alan Ma, Amanda Engel, Anand Vasudevan, Andrew Paul Fennell, Anita Gorrie, Anna Le Fevre, Annabelle Enriquez, Ari Horton, Arjan Bouman, Benjamin Kamien, Bethany Wadling, Bhavya Vora, Bruce Hopper, Cathryn Poulton, Christopher Richmond, Clara W.T. Chung, David J Amor, Di Milnes, Krzesinski Emma, Erica Brown, Fiona Cunningham, Gargi Pathak, George McGillivray, Giorgina Maxwell, Helen Curd, Himanshu Goel, Hugh McCarthy, Jan Liebelt, Janene Davies, Jarrad Dearman, Jason R Pinner, Jaye Richardson, Jennie Slee, Jennifer Rigby, Joanna Perry‐Keene, Jonathan Rodgers, Kaitlin McGinnis, Karin Kassahn, Kate Riley, Kerrie Smyth, Krithika Murali, Kunal Verma, Kushani Jayasinghe, Lara Fitzgerald, Laura Barth, Laura St Clair, Lesley McGregor, Lisa Smith, Lisa Worgan, Lucas De Jong, Lucy Kevin, Lyndal Douglas, Mahalia SB Frank, Margit Shah, Marni Russell, Mary‐Clare Sherlock, Mary‐Louise Freckman, Mathew Wallis, Matthew F Hunter, Matthew Regan, Megan Higgins, Michael Fahey, Michelle Ward, Minmin Li, Miranda Lewit‐Mendes, Molly Krause, Nicholas Pachter, Nikki Gelfand, Noelia Nunez Martinez, Peer Arts, Prue Dunstan, Rachel Pope‐Couston, Renae Parker, Renuka Sekar, Richard Lin, Ron Fleischer, Sachini Poogoda, Sarah A Sandaradura, Shannon LeBlanc, Sheridan O’Donnell, Shuxiang Goh, Sinead O’Sullivan, Stephanie Badman, Sulekha Rajagopalan, Suzanna EL Temple, Suzanne Sallevelt, Tahlee Minto, Tanya Lam, Tara Darmody, Tenielle Davis, Thuong Ha, Tiffany Foo, Yael Prawer   +102 more
wiley   +1 more source

Developing Concepts for Neuroscience: A Philosophical Toolkit

European Journal of Neuroscience, Volume 63, Issue 2, January 2026.
Whether and how concepts should be developed depends on the phenomena that neuroscientists aim to describe, classify, and explain. These epistemic goals shape when introducing novel terms like “default mode network,” refining existing terms such as “hierarchy,” and retiring or replacing outdated ones such as “cortical columns” succeeds or fails to ...
Philipp Haueis, Daniel S. Margulies
wiley   +1 more source

The Risk of Transmission of Genetic Prion Diseases is Greater Than 50. [PDF]

Eur J Neurol
Kortazar-Zubizarreta I, Manero-Azua A, Eraña H, Aguire U, Castilla J, Perez de Nanclares G.   +5 more
europepmc   +1 more source

Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns. [PDF]

Mol Genet Genomic Med, 2017
Riera M, Wert A, Nieto I, Pomares E.
europepmc   +1 more source

Natural variations in MdBPM2/MdRGLG3‐MdNAC83 network controlling the quantitative segregation of apple fruit storability

Journal of Integrative Plant Biology, Volume 68, Issue 1, Page 169-190, January 2026.
During postharvest cold storage of apples, the NAC transcription factor MdNAC83 binds to the promoters and activates the expression of downstream genes and is regulated by E3 ligases, which promote its ubiquitination and degradation. Genetic variants in MdNAC83 and its downstream genes form a network to regulate apple fruit storability.
Bei Wu, Fei Shen, Ziying Zhou, Wenhui Ren, Yi Wang, Ting Wu, Zhenhai Han, Xinzhong Zhang   +7 more
wiley   +1 more source

Familial Cerebral Cavernous Malformations: Pathophysiology, Genetics, Biomarkers, and Treatment Perspectives

Journal of Neurochemistry, Volume 170, Issue 1, January 2026.
Cerebral cavernous malformations (CCMs) are vascular lesions in the brain caused by inherited genetic mutations in the CCM1/2/3 genes that disrupt normal blood vessel function. This work demonstrates that these mutations lead to endothelial dysfunction, inflammation, and iron accumulation, which can be detected by magnetic resonance imaging (MRI) and ...
Fabrícia Lima Fontes‐Dantas, Gustavo da Fontoura Galvão, Alexandre Martins Cunha, Pedro de Sena Murteira Pinheiro, Verônica Morandi, Jorge Marcondes de Souza   +5 more
wiley   +1 more source

Molecular Investigation in Early‐Onset Interstitial Lung Disease: Results From 699 Unrelated Patients

Respirology, Volume 31, Issue 1, Page 53-61, January 2026.
ABSTRACT Background and Objective Interstitial lung diseases (ILDs) are rare and severe respiratory conditions that may ultimately result in pulmonary fibrosis (PF). The objective of this study was to present the results of molecular diagnosis of early‐onset ILD (from neonates to young adults < 50 years) in a reference genetic diagnostic laboratory ...
Camille Louvrier, Nadia Nathan, Vincent Cottin, Tifenn Desroziers, Valérie Nau, Yohan Soreze, Florence Dastot‐Le Moal, Philippe Reix, Diane Bouvry, Caroline Thumerelle, Martine Reynaud‐Gaubert, Alice Hadchouel, Grégoire Prévot, Effrosyni Manali, Caroline Kannengiesser, Ibrahima Ba, Serge Amselem, Véronique Houdouin, Raphaël Borie, Marie Legendre, on behalf of RespiRare and OrphaLung   +20 more
wiley   +1 more source

Causal Relationships Between Major Depressive Disorder and Coronary Artery Disease Across Diverse Populations: A Bidirectional Mendelian Randomisation Study

Tropical Medicine &International Health, Volume 31, Issue 1, Page 80-90, January 2026.
ABSTRACT Background and Objectives Coronary artery disease remains the leading cause of cardiovascular mortality worldwide, with a disproportionate burden in low‐ and middle‐income countries. Although observational studies have established a bidirectional relationship between depression and coronary artery disease, the underlying genetic basis of this ...
Sarah Silva, Dorothea Nitsch, Segun Fatumo   +2 more
wiley   +1 more source

ABCC11 Earwax Trait and Genotype Are Suitable Tools for Introductory Labs to Learn Genetics and Molecular Techniques. [PDF]

Biochem Mol Biol Educ
Ohta T, Takai R, Yoshida A, Paudel D, Giri S, Kitagawa T, Arakawa T, Kuramitsu Y, Tokutomi T.   +8 more
europepmc   +1 more source