How to Count Our Microbes? The Effect of Different Quantitative Microbiome Profiling Approaches

Autor: Gianluca Galazzo, Niels van Best, Birke J. Benedikter, Kevin Janssen, Liene Bervoets, Christel Driessen, Melissa Oomen, Mayk Lucchesi, Pascalle H. van Eijck, Heike E. F. Becker, Mathias W. Hornef, Paul H. Savelkoul, Frank R. M. Stassen, Petra F. Wolffs, John Penders

Publikováno v: Frontiers in Cellular and Infection Microbiology, Vol 10 (2020)

Next-generation sequencing (NGS) has instigated the research on the role of the microbiome in health and disease. The compositional nature of such microbiome datasets makes it however challenging to identify those microbial taxa that are truly associ

Externí odkaz: https://doaj.org/article/84c79ee9055342a89250038c111e2aec

Combination of common mtDNA variants results in mitochondrial dysfunction and a connective tissue dysregulation

Autor: Patrick M. Schaefer, Leonardo Scherer Alves, Maria Lvova, Jessica Huang, Komal Rathi, Kevin Janssen, Arrienne Butic, Tal Yardeni, Ryan Morrow, Marie Lott, Deborah Murdock, Angela Song, Kierstin Keller, Benjamin A. Garcia, Clair A. Francomano, Douglas C. Wallace

Publikováno v: Proceedings of the National Academy of Sciences. 119

Mitochondrial dysfunction can be associated with a range of clinical manifestations. Here, we report a family with a complex phenotype including combinations of connective tissue, neurological, and metabolic symptoms that were passed on to all surviv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9170cd8892fb9eb7d1623cabb2b287e
https://doi.org/10.1073/pnas.2212417119

Novel mtDNA Imparts the Connective Tissue Disorder of a Tourette Pedigree

Autor: Patrick M. Schaefer, Leonardo Scherer Alves, Maria Lvova, Jessica Huang, Komal Rathi, Kevin Janssen, Arrienne Butic, Tal Yardeni, Ryan Morrow, Marie Lott, Kierstin Keller, Benjamin A. Garcia, Clair A. Francomano, Douglas C. Wallace

Mitochondrial dysfunction is associated with a range of clinical manifestations including neuropsychiatric and metabolic disorder. Here, we reanalyzed a family with an L-Histidine Decarboxylase (HDC) variant previously linked to Tourette syndrome but

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::00d689d66f65e651961a5c3bacde60ed
https://doi.org/10.1101/2022.02.25.481696

Histone H3.3 beyond cancer: Germline mutations in

Autor: Laura, Bryant, Dong, Li, Samuel G, Cox, Dylan, Marchione, Evan F, Joiner, Khadija, Wilson, Kevin, Janssen, Pearl, Lee, Michael E, March, Divya, Nair, Elliott, Sherr, Brieana, Fregeau, Klaas J, Wierenga, Alexandrea, Wadley, Grazia M S, Mancini, Nina, Powell-Hamilton, Jiddeke, van de Kamp, Theresa, Grebe, John, Dean, Alison, Ross, Heather P, Crawford, Zoe, Powis, Megan T, Cho, Marcia C, Willing, Linda, Manwaring, Rachel, Schot, Caroline, Nava, Alexandra, Afenjar, Davor, Lessel, Matias, Wagner, Thomas, Klopstock, Juliane, Winkelmann, Claudia B, Catarino, Kyle, Retterer, Jane L, Schuette, Jeffrey W, Innis, Amy, Pizzino, Sabine, Lüttgen, Jonas, Denecke, Tim M, Strom, Kristin G, Monaghan, Zuo-Fei, Yuan, Holly, Dubbs, Renee, Bend, Jennifer A, Lee, Michael J, Lyons, Julia, Hoefele, Roman, Günthner, Heiko, Reutter, Boris, Keren, Kelly, Radtke, Omar, Sherbini, Cameron, Mrokse, Katherine L, Helbig, Sylvie, Odent, Benjamin, Cogne, Sandra, Mercier, Stephane, Bezieau, Thomas, Besnard, Sebastien, Kury, Richard, Redon, Karit, Reinson, Monica H, Wojcik, Katrin, Õunap, Pilvi, Ilves, A Micheil, Innes, Kristin D, Kernohan, Gregory, Costain, M Stephen, Meyn, David, Chitayat, Elaine, Zackai, Anna, Lehman, Hilary, Kitson, Martin G, Martin, Julian A, Martinez-Agosto, Stan F, Nelson, Christina G S, Palmer, Jeanette C, Papp, Neil H, Parker, Janet S, Sinsheimer, Eric, Vilain, Jijun, Wan, Amanda J, Yoon, Allison, Zheng, Elise, Brimble, Giovanni Battista, Ferrero, Francesca Clementina, Radio, Diana, Carli, Sabina, Barresi, Alfredo, Brusco, Marco, Tartaglia, Jennifer Muncy, Thomas, Luis, Umana, Marjan M, Weiss, Garrett, Gotway, K E, Stuurman, Michelle L, Thompson, Kirsty, McWalter, Constance T R M, Stumpel, Servi J C, Stevens, Alexander P A, Stegmann, Kristian, Tveten, Arve, Vøllo, Trine, Prescott, Christina, Fagerberg, Lone Walentin, Laulund, Martin J, Larsen, Melissa, Byler, Robert Roger, Lebel, Anna C, Hurst, Joy, Dean, Samantha A, Schrier Vergano, Jennifer, Norman, Saadet, Mercimek-Andrews, Juanita, Neira, Margot I, Van Allen, Nicola, Longo, Elizabeth, Sellars, Raymond J, Louie, Sara S, Cathey, Elly, Brokamp, Delphine, Heron, Molly, Snyder, Adeline, Vanderver, Celeste, Simon, Xavier, de la Cruz, Natália, Padilla, J Gage, Crump, Wendy, Chung, Benjamin, Garcia, Hakon H, Hakonarson, Elizabeth J, Bhoj

Publikováno v: Science Advances

Germ line mutations in H3F3A and H3F3B cause a previously unidentified neurodevelopmental syndrome.
Although somatic mutations in Histone 3.3 (H3.3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported. We a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9b935d757ea4c034c49b726ecd6f074d
https://pubmed.ncbi.nlm.nih.gov/33268356

P464 Treatment failure in rectalChlamydia trachomatisazithromycin treated women driven by high viable bacterial load (FemCure)

Autor: Petra F. G. Wolffs, M. F. M. Steenbakkers, Henry J. C. de Vries, Nicole H. T. M. Dukers-Muijrers, Christian J. P. A. Hoebe, Arjan Hogewoning, Titia Heijman, Maarten F. Schim van der Loeff, Hannelore M Götz, Kevin Janssen, Mayk Lucchesi, Sylvia M. Bruisten

Publikováno v: Poster Presentations.

Background Rectal infections with Chlamydia trachomatis (CT) are prevalent in women visiting a STI outpatient clinic. While azithromycin is the most used treatment, microbiological treatment failure in rectal CT is common and its drivers remain uncle

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::71c9d9f3bc65a1f56068376664179df9
https://doi.org/10.1136/sextrans-2019-sti.546