Results 21 to 30 of about 212 (100)

A single nucleotide variant on chromosome 17 residing within PSMD3 distinguishes patients with HER2+ breast cancer.

, 2022
Molecular subtypes, including the human epidermal growth factor receptor 2-enriched subtype (HER2+), drive patient outcomes in human breast cancer but the biological basis underlying subtype-specific disease is not completely understood (1-4). We mined published microarray data (5, 6) to discover in an unbiased fashion the most distinguishing genetic ...
Shahan Mamoor
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Identification of genetic variants associated with idiopathic inflammatory myopathies via cross-trait analysis with B cell lymphomas

HGG Advances
Summary: The genetic architecture of idiopathic inflammatory myopathies (IIMs) remains incompletely defined. When increasing sample size is not feasible, cross-trait analysis of genetically correlated diseases offers an effective strategy for discovering
Weng Ian Che, James N. Jarvis, Anton Öberg Sysojev, Catherine Zhu, Karina Patasova, Karin E. Smedby, Ingrid E. Lundberg, Helga Westerlind, Janine A. Lamb, Marie Holmqvist, Sonja Berndt, Parveen Bhatti, Lauren Teras, Alain Monnereau, Roel Vermeulen, Delphine Casabonne, Alexandra Nieters, James McKay, Brenda Birmann, Pierluigi Cocco, James Cerhan, Brian Link, Roger Milne, Harindra Jayasekara, Vijai Joseph, Kenneth Offit, Nathaniel Rothman, Claire Vajdic, Alan Arslan, Mark Purdue, Henrik Hjalgrim, Paige Bracci, Eleanor Kane, Lesley Tinker, Qing Lan, Susan Slager, Immaculata De Vivo, Gilles Salles, Nicola Camp, Chris Amos, Olivier Benveniste, Hector Chinoy, Jan L. De Bleecker, Boel De Paepe, Andrea Doria, Zoltan Geiger, Peter Gregersen, Michael G. Hanna, Vidya Limaye, Pedro Machado, Pernille Mathiesen, Britta Maurer, Frederick W. Miller, Øyvind Molberg, Lauren Pachman, Leonid Padyukov, Timothy Radstake, Ann M. Reed, Lisa G. Rider, Simon Rothwell, Adam Schiffenbauer, Albert Selva-O’Callaghan, Jiri Vencovksy, Lucy R. Wedderburn   +63 more
doaj   +7 more sources

Biomarker discovery with quantum neural networks: a case-study in CTLA4-activation pathways [PDF]

BMC Bioinformatics
Background Biomarker discovery is a challenging task due to the massive search space. Quantum computing and quantum Artificial Intelligence (quantum AI) can be used to address the computational problem of biomarker discovery from genetic data.
Phuong-Nam Nguyen
doaj   +3 more sources

A case report of PGAP2-related hyperphosphatasia with impaired intellectual development syndrome in a Chinese family and literature review [PDF]

Frontiers in Pediatrics
Recently, mutations have been identified in six genes (PIGA, PIGY, PIGO, PGAP2, PIGW and PGAP3) encoding proteins in the Glycosyl phosphatidylinositol(GPI)-anchor-synthesis pathway in individuals with hyperphosphatasia with impaired intellectual ...
Yijun Pan, Bin Ren, Lijuan Chen, Qiang Li   +3 more
doaj   +2 more sources

IN SILICO APPROACH TO GENETICS AND EPIGENETIC MECHANISMS IN SYSTEMIC LUPUS ERYTHEMATOSUS: FOCUS ON IMMUNE RESPONSE GENES

Sabiad
Objective: Systemic lupus erythematosus (SLE) is a multifaceted autoim mune condition characterised by irregular immune reactions and genetic susceptibility. The aim of this in silico study was to investigate immune response genes during SLE pathogenesis,
Feyzanur Çaldıran
doaj   +2 more sources

Transcriptome-wide association study and Mendelian randomization in pancreatic cancer identifies susceptibility genes and causal relationships with type 2 diabetes and venous thromboembolismResearch in context [PDF]

EBioMedicine
Summary: Background: Two important questions regarding the genetics of pancreatic adenocarcinoma (PDAC) are 1. Which germline genetic variants influence the incidence of this cancer; and 2.
Marcus C.B. Tan, Chelsea A. Isom, Yangzi Liu, David-Alexandre Trégouët, Lang Wu, Dan Zhou, Eric R. Gamazon, Sara Lindstrom, Lu Wang, Erin Smith, William Gordon, Astrid Van Hylckama Vlieg, Mariza De Andrade, Jennifer Brody, Jack Pattee, Jeffrey Haessler, Ben Brumpton, Daniel Chasman, Pierre Suchon, Ming-Huei Chen, Constance Turman, Marine Germain, Kerri Wiggins, James MacDonald, Sigrid Braekkan, Sebastian Armasu, Nathan Pankratz, Rabecca Jackson, Jonas Nielsen, Franco Giulianini, Marja Puurunen, Manal Ibrahim, Susan Heckbert, Theo Bammler, Kelly Frazer, Bryan McCauley, Kent Taylor, James Pankow, Alexander Reiner, Maiken Gabrielsen, Jean-François Deleuze, Chris O'Donnell, Jihye Kim, Barbara McKnight, Peter Kraft, John-Bjarne Hansen, Frits Rosendaal, John Heit, Bruce Psaty, Weihong Tang, Charles Kooperberg, Kristian Hveem, Paul Ridker, Pierre-Emmanuel Morange, Andrew Johnson, Christopher Kabrhel, David-Alexandre Trégouët, Nicholas Smith   +57 more
doaj   +2 more sources

Integrative Analysis of Intestinal Transcriptomes Underscores Upregulation in IBD, AIG, EoE, and CRC

Bioinformatics and Biology Insights
Intestinal transcriptomic data encompass substantial value in studying inflammatory bowel disease. By analyzing intestinal gene expression profiles, this study aimed to discover transcripts exhibiting diagnostic efficacy for IBD.
Arman Mokaram Doust Delkhah
doaj   +2 more sources

Compound Heterozygosity in PGAP3 Causing Mabry Syndrome in a South African Patient

American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 982-984, April 2026.
Carli Loubser, Shahida Moosa
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PGAP3 Gene [PDF]

, 2020
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PGAP3 wt Allele [PDF]

, 2020
openaire   +2 more sources