Results 161 to 170 of about 31,405 (257)

GEiPRS: a fast and powerful machine learning method for polygenic risk score prediction by leveraging genotype-environment interactions. [PDF]

Brief Bioinform
Huang L, Zhong W, Zhai S, Shen J.
europepmc   +1 more source

STHLM3 NorDCaP: prospective multicentre trial of Stockholm3 for active surveillance biopsy guidance

BJU International, EarlyView.
Objectives Active surveillance (AS) is the preferred approach for low‐risk prostate cancer (PCa). Recent efforts have explored new biomarkers to reduce the frequency of surveillance biopsy. This study assessed Stockholm3 for predicting PCa upgrading during surveillance biopsies. Materials and Methods The prospective STHLM3‐AS NorDCaP trial included 199
Nicola Giudici, Simone Scuderi, Thorgerdur Palsdottir, Tobias Nordstrom, Martin Eklund, Eva Ferlev Jensby, Michael Borre, Bodil Ginnerup Pedersen, Henrik Grönberg, Karina Dalsgaard Sørensen, Svein R Kjosavik, Anna Lantz   +11 more
wiley   +1 more source

Genome-Wide Association Study of Psoriasis, Psoriatic Arthritis, Anti-TNF-α Response, and Polygenic Risk Score in a Russian Cohort. [PDF]

Int J Mol Sci
Karamova AE, Buianova AA, Vorontsova AA, Kubanov AA.   +3 more
europepmc   +1 more source

AMPK‐mediated prevention of vascular dysfunction with metformin: Experimental and population‐based evidence

British Journal of Pharmacology, EarlyView.
Angiotensin II induces vascular inflammation, senescence, extracellular matrix (ECM) degradation and endothelial dysfunction, thus impairing SK+/IK+ channel function and reducing endothelial‐dependent hyperpolarisation (EDH). Metformin activates AMPK, increasing SK+/IK+ channel function and restoring vasorelaxation.
Soroush Mohammadi Jouabadi, Annika A. Jüttner, Annique Claringbould, Rene de Vries, Ingrid M. Garrelds, Usha Musterd‐Bhaggoe, Bruno H. Stricker, Maryam Kavousi, A. H. Jan Danser, Fariba Ahmadizar, Anton J. M. Roks   +10 more
wiley   +1 more source

Australian and New Zealand Glaucoma Society (ANZGS) Consensus on Interventional Glaucoma

Clinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background Traditional reactive ‘wait and see’ approaches in glaucoma management often result in unacceptable rates of permanent vision loss. This consensus defines a proactive ‘interventional glaucoma’ framework tailored for the Australian and New Zealand healthcare context. Methods A modified Delphi consensus process was utilised, consisting
Graham A. Lee, Lance Liu, Ridia Lim, Rajiv Shah, Robert J. Casson, Keith R. Martin, Helen Danesh‐Meyer, Ashish Agar, Jennifer C. Fan Gaskin, Judy Y. Ku, Geoffrey Chan, Anna Galanopoulos, Shamira Perera   +12 more
wiley   +1 more source

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

A deep ensemble encoder network method for improved polygenic risk score prediction. [PDF]

BioData Min
Ozdemir OB, Chen R, Wu O, Li R.
europepmc   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

Polygenic risk score predicts pathologically confirmed cerebral amyloid angiopathy. [PDF]

Alzheimers Dement
Pyun JM, Park YH, Kim S, Nho K, Alzheimer's Disease Neuroimaging Initiative.   +4 more
europepmc   +1 more source

Baseline Computed Tomography Coronary Angiography and Polygenic Risk Profiles in Adults With Type 2 Diabetes: A Cross‐Sectional Analysis From the VOLTAIRE Study

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims To characterise baseline clinical, anatomical, and genetic cardiovascular risk profiles in participants enrolled in the VOLTAIRE (Evaluation of Polygenic Scores and CT Imaging in Risk Factor Modification in Patients with Type 2 Diabetes) study and examine concordance across these domains. Methods This analysis included adults with T2D who
Ruofei (Trophy) Chen, Adam J. Nelson, Sophia Zoungas, Robyn A. Clark, Sean Tan, Esther F. Davis, Melissa C. Southey, Andrew Lin, Giuseppe Di Giovanni, Masashi Fujino, Jennifer Wong, Robert L. O'Reilly, Jacqueline S. Dron, Stephen J. Nicholls   +13 more
wiley   +1 more source