Deep Screening for X Chromosome Parent-of-Origin Effects on Neurobehavioral and Neuroanatomical Phenotypes in 47,XXY Klinefelter Syndrome

Authors: Isabella G. Larsen, Rachel Gore Moses, Bryce A. Seifert, Siyuan Liu, Samuel Li, Andrew J. Oler, Elizabeth Levitis, Lukas Schaffer, Rylee Duncan, Colleen Jodarski, Michael Kamen, Jia Yan, François M. Lalonde, Rajarshi Ghosh, Erin Torres, Liv S. Clasen, Jonathan Blumenthal, Morgan Similuk, Armin Raznahan, Magdalena A. Walkiewicz

Source: Biological Psychiatry Global Open Science, Vol 4, Iss 6, Pp 100391- (2024)

Subject Terms: 47,XXY, Klinefelter syndrome, Neuroanatomy, Neurodevelopment, X chromosome parent of origin, Psychiatry, RC435-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2667174324001046; https://doaj.org/toc/2667-1743

Access URL: https://doaj.org/article/75f5e7341ed143c69b2d4c7abea3e6f4

Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD-related activated PI3K delta syndrome

Authors: Halyn Orellana, Jia Yan, Alex Paul, Mari Tokita, Yan Ding, Rajarshi Ghosh, Katie L. Lewis, Joie Davis, Leila Jamal, Colleen Jodarski, Morgan Similuk, Nermina Saucier, Zhanyang Zhu, Yihe Wang, Sitao Wu, Jason Ruggieri, NIAID Centralized Sequencing Program Working Group, Helen C. Su, Gulbu Uzel, Shareef Nahas, Megan Cooper, Magdalena A. Walkiewicz, Bryce A. Seifert, Nadjalisse Reynolds-Lallement, Rachel Gore Moses, Michael Gore Moses, Sarah Bannon, Sophie Byers, Ekaterina Damskey, Sruthi Srinivasan, Adrienne Borges, Nicole Gentile

Source: Frontiers in Immunology, Vol 15 (2024)

Subject Terms: gonadal mosaicism, gonosomal mosaicism, PIK3CD, inborn errors of immunity, primary immunodeficiency diseases, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2024.1451212/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/3117ca222ae44c57838f942448f49e14

Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity

Authors: Breanna J. Beers, Morgan N. Similuk, Rajarshi Ghosh, Bryce A. Seifert, Leila Jamal, Michael Kamen, Michael R. Setzer, Colleen Jodarski, Rylee Duncan, Devin Hunt, Madison Mixer, Wenjia Cao, Weimin Bi, Daniel Veltri, Eric Karlins, Lingwen Zhang, Zhiwen Li, Andrew J. Oler, Kathleen Jevtich, Yunting Yu, Haley Hullfish, Bibiana Bielekova, Pamela Frischmeyer-Guerrerio, An Dang Do, Laryssa A. Huryn, Kenneth N. Olivier, Helen C. Su, Jonathan J. Lyons, Christa S. Zerbe, V. Koneti Rao, Michael D. Keller, Alexandra F. Freeman, Steven M. Holland, Luis M. Franco, Magdalena A. Walkiewicz, Jia Yan

Source: Frontiers in Immunology, Vol 14 (2023)

Subject Terms: genetic, copy number, immunity, sequencing, microarray, diagnosis, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2023.1172004/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/5a9a5d2c1d2843bb9d22ca82e9ec744f

Case report: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype

Authors: Elise M. N. Ferré, Yunting Yu, Vasileios Oikonomou, Anna Hilfanova, Chyi-Chia R. Lee, Lindsey B. Rosen, Peter D. Burbelo, Sara E. Vazquez, Mark S. Anderson, Amisha Barocha, Theo Heller, Ariane Soldatos, Steven M. Holland, Magdalena A. Walkiewicz, Michail S. Lionakis

Source: Frontiers in Immunology, Vol 14 (2023)

Subject Terms: Primary immunodeficiency disorders, Autoimmunity, POIKTMP, FAM111B, Chronic mucocutaneous candidiasis, immunosuppression, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2023.1133387/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/692b04899b434bd4af0be2c0f51e1216

Human Dectin-1 deficiency impairs macrophage-mediated defense against phaeohyphomycosis

Authors: Rebecca A. Drummond, Jigar V. Desai, Amy P. Hsu, Vasileios Oikonomou, Donald C. Vinh, Joshua A. Acklin, Michael S. Abers, Magdalena A. Walkiewicz, Sarah L. Anzick, Muthulekha Swamydas, Simon Vautier, Mukil Natarajan, Andrew J. Oler, Daisuke Yamanaka, Katrin D. Mayer-Barber, Yoichiro Iwakura, David Bianchi, Brian Driscoll, Ken Hauck, Ahnika Kline, Nicholas S.P. Viall, Christa S. Zerbe, Elise M.N. Ferré, Monica M. Schmitt, Tom DiMaggio, Stefania Pittaluga, John A. Butman, Adrian M. Zelazny, Yvonne R. Shea, Cesar A. Arias, Cameron Ashbaugh, Maryam Mahmood, Zelalem Temesgen, Alexander G. Theofiles, Masayuki Nigo, Varsha Moudgal, Karen C. Bloch, Sean G. Kelly, M. Suzanne Whitworth, Ganesh Rao, Cindy J. Whitener, Neema Mafi, Juan Gea-Banacloche, Lawrence C. Kenyon, William R. Miller, Katia Boggian, Andrea Gilbert, Matthew Sincock, Alexandra F. Freeman, John E. Bennett, Rodrigo Hasbun, Constantinos M. Mikelis, Kyung J. Kwon-Chung, Yasmine Belkaid, Gordon D. Brown, Jean K. Lim, Douglas B. Kuhns, Steven M. Holland, Michail S. Lionakis

Source: The Journal of Clinical Investigation, Vol 132, Iss 22 (2022)

Subject Terms: Immunology, Infectious disease, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1558-8238

Access URL: https://doaj.org/article/71c653dd808145c48e7e7ce5ab2b01ae

Increased insulin/insulin growth factor signaling advances the onset of metamorphosis in Drosophila.

Authors: Magdalena A Walkiewicz, Michael Stern

Source: PLoS ONE, Vol 4, Iss 4, p e5072 (2009)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC2662422?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/a6987259b4aa47e3890ea5be0b3c6430