Defining the transcriptome of PIK3CA-altered cells in a human capillary malformation using single cell long-read sequencing

Autor: Michelle A. Wedemeyer, Tianli Ding, Elizabeth A. R. Garfinkle, Jesse J. Westfall, Jaye B. Navarro, Maria Elena Hernandez Gonzalez, Elizabeth A. Varga, Patricia Witman, Elaine R. Mardis, Catherine E. Cottrell, Anthony R. Miller, Katherine E. Miller

Publikováno v: Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)

Abstract PIK3CA-related overgrowth spectrum (PROS) disorders are caused by somatic mosaic variants that result in constitutive activation of the phosphatidylinositol-3-kinase/AKT/mTOR pathway. Promising responses to molecularly targeted therapy have

Externí odkaz: https://doaj.org/article/183a69823ecc4b859a5266f42d70c7e1

The First Steps to Building Research Collaborative Using Strength-Based Assessments and GIS Maps with a Sample of Community-Based Organizations in the Bronx, NY

Autor: Mar?a Isabel Rold?s, Jaye Jones, Jocelyn Rajaballey

Publikováno v: Health Equity, Vol 8, Iss 1, Pp 66-75 (2024)

Introduction: Community-based participatory research (CBPR) is one of the most effective strategies for conceptualizing, developing, and executing programs or interventions that address health disparities in community settings. The City University of

Externí odkaz: https://doaj.org/article/b71f1d15a6f04dd19a490db5b257c2ee

A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship

Autor: Rachel Austin, Jaye S. Brown, Sarah Casauria, Evanthia O. Madelli, Tessa Mattiske, Tiffany Boughtwood, Alejandro Metke, Andrew Davis, Ari E. Horton, David Winlaw, Debjani Das, Magdalena Soka, Eleni Giannoulatou, Emma M. Rath, Eric Haan, Gillian M. Blue, Jitendra Vohra, John J. Atherton, Karin van Spaendonck-Zwarts, Kathy Cox, Leslie Burnett, Mathew Wallis, Matilda Haas, Michael C.J. Quinn, Nicholas Pachter, Nicola K. Poplawski, Zornitza Stark, Richard D. Bagnall, Robert G. Weintraub, Sarah-Jane Pantaleo, Sebastian Lunke, Paul De Fazio, Tina Thompson, Paul James, Yuchen Chang, Diane Fatkin, Ivan Macciocca, Jodie Ingles, Sally L. Dunwoodie, Chris Semsarian, Julie McGaughran, Lesley Ades, Annabel Enriquez, Alison McLean, Renee Smyth, Dimithu Alankarage, James McNamara, Morgan almog, Vanessa Fear, Caroline Medi, Mohammad Al-Shinnag, Miriam Fine, Raymond Sy, Keri Finlay, Di Milnes, Dotti Tang, Denisse Garza, Michael Milward, Jessica Taylor, Ansley Morrish, Shelby Taylor, Chris Barnett, Laura Gongolidis, Jim Morwood, Michel Tchan, Belinda Gray, Helen Mountain, Simon Bodek, Cassie Greer, David Mowat, Jordan Thorpe, Kirsten Boggs, Chai-Ann Ng, Alison Trainer, Michael Bogwitz, Mathilda Haas, Natalie Nowak, Gunjan Trivedi, Bernadette Hanna, Noelia Nunez Martinez, Giulia Valente, Alessandra Bray, Richard Harvey, Monique Ohanian, Marie-Jo Brion, Janette Hayward, Sinead O’Sullivan, Jamie Vandenberg, Jaye Brown, Carmen Herrera, Angela Overkov, Kunal Verma, Rob Bryson Richardson, Adam Hill, Miranda Vidgen, Georgie Hollingsworth, Chirag Patel, Charlotte Burns, Georgina Hollway, Mark Perrin, Kathryn Waddel-Smith, Michelle Cao, Matthew Perry, Will Carr, Denise Howting, Andreas Pflaumer, Peta Phillips, Meredith Wilson, Heather Chalinor, Joanne Isbister, Thuan Phuong, Matilda Jackson, Rachel Pope-Couston, Lisa Worgan, Gavin Chapman, Linda Wornham, Theosodia Charitou, Sarah Jane-Pantaleo, Preeti Punni, Kathy Wu, Belinda Chong, Renee Johnson, Laura Yeates, Felicity Collins, Andrew Kelly, Michael Quinn, Dominica Zentner, Gemma Correnti, Sarah King-Smith, Sulekha Rajagopalan, Edwin Kirk, Hariharan Raju, Fiona Cunningham, Sarah Kummerfeld, Timo Lassman, Matthew Regan, Jason Davis, Jonathon Lipton, Jonathan Rogers, Mark Ryan, Sarah Sandaradura, Michelle de Silva, Paul MacIntyre, Nicole Schonrock, Nicola Den Elzen, Paul Scuffham, Sophie Devery, Amali Mallawaarachchi, Julia Dobbins, Julia Mansour, Isabella Sherburn, Ellenore Martin, Mary-Clare Sherlock, Nathan Dwyer, Jacob Mathew, Emma Singer, Stefanie Elbracht-Leong, Carla Smerdon, David Elliott, Janine Smith

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 101842- (2024)

Purpose: The Australian Genomics Cardiovascular Disorders Flagship was a national multidisciplinary collaboration. It aimed to investigate the feasibility of genome sequencing (GS) and functional genomics to resolve variants of uncertain significance

Externí odkaz: https://doaj.org/article/c9654afa9dea4d2db6eb639d8979bf14

Serotype 3 Experimental Human Pneumococcal Challenge (EHPC) study protocol: dose ranging and reproducibility in a healthy volunteer population (challenge 3)

Autor: Maia Lesosky, Konstantinos Liatsikos, Stephen B Gordon, Kelly Davies, Phoebe Hazenberg, Angela Hyder-Wright, Ryan E Robinson, Britta Urban, Elena Mitsi, Carla Solorzano, Daniela M Ferreira, Madlen Farrar, Ashleigh Howard, Andrea M Collins, Jaye Brunning, Hannah Fleet, Amy Bettam, Tinashe Kenny-Nyazika, Dima El Safadi

Publikováno v: BMJ Open, Vol 14, Iss 1 (2024)

Introduction Since the introduction of pneumococcal conjugate vaccines, pneumococcal disease rates have declined for many vaccine-type serotypes. However, serotype 3 (SPN3) continues to cause significant disease and is identified in colonisation epid

Externí odkaz: https://doaj.org/article/29c9f5f36e564dbebdfe5cbccf615b4d

Reduced immunomodulatory metabolite concentrations in peri-transplant fecal samples from heart allograft recipients

Autor: Mark Dela Cruz, Huaiying Lin, Jiho Han, Emerald Adler, Jaye Boissiere, Maryam Khalid, Ashley Sidebottom, Anitha Sundararajan, Christopher Lehmann, Angelica Moran, Matthew Odenwald, Matthew Stutz, Gene Kim, Sean Pinney, Valluvan Jeevanandam, Maria-Luisa Alegre, Eric Pamer, Ann B. Nguyen

Publikováno v: Frontiers in Transplantation, Vol 2 (2023)

BackgroundEmerging evidence is revealing the impact of the gut microbiome on hematopoietic and solid organ transplantation. Prior studies postulate that this influence is mediated by bioactive metabolites produced by gut-dwelling commensal bacteria.

Externí odkaz: https://doaj.org/article/751b2df2625242f6a1d6a1d41cd1356a