Triggering Receptor Expressed on Myeloid Cell 2 R47H Exacerbates Immune Response in Alzheimer’s Disease Brain

Autor: Olena Korvatska, Kostantin Kiianitsa, Alexander Ratushny, Mark Matsushita, Neal Beeman, Wei-Ming Chien, Jun-Ichi Satoh, Michael O. Dorschner, C. Dirk Keene, Theo K. Bammler, Thomas D. Bird, Wendy H. Raskind

Publikováno v: Frontiers in Immunology, Vol 11 (2020)

The R47H variant in the microglial triggering receptor expressed on myeloid cell 2 (TREM2) receptor is a strong risk factor for Alzheimer’s disease (AD). To characterize processes affected by R47H, we performed an integrative network analysis of ge

Externí odkaz: https://doaj.org/article/473307c7b17f4f2c97dff1c8062620f1

Spinal cord‐predominant neuropathology in an adult‐onset case of POLR3A ‐related spastic ataxia

Autor: Thomas D. Bird, Jing Zhang, C. Dirk Keene, Caitlin S. Latimer, Michael O. Dorschner, Suman Jayadev, Dong-Hui Chen, Bradley Rolf, Trevor M. Sytsma

Publikováno v: Neuropathology. 42:58-65

Biallelic mutations in POLR3A have been associated with childhood-onset hypomyelinating leukodystrophies and adolescent-to-adult-onset spastic ataxia, the latter of which has been linked to the intronic variant c.1909 + 22G>A. We report a case of adu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::194c2721484e52bf5c0492515aec51c9
https://doi.org/10.1111/neup.12775

Genetic counseling for early onset and familial dementia: Patient perspectives on exome sequencing

Autor: Michael O. Dorschner, Suman Jayadev, Elizabeth E. Blue, Stephanie A. Bucks, Bradley Rolf

Publikováno v: Journal of Genetic Counseling. 30:793-802

Genetic testing has become routine for many inherited conditions; however, little is known about the unique issues that arise when offering genetic testing for inherited forms of dementia. To better understand the patient perspective, we surveyed stu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9d949255570b2c5571a18387f07ff1f
https://doi.org/10.1002/jgc4.1379

Homozygous CADPS2 Mutations Cause Neurodegenerative Disease with Lewy Body-like Pathology in Parrots

Autor: Oswaldo Lorenzo‐Betancor, Livio Galosi, Laura Bonfili, Anna Maria Eleuteri, Valentina Cecarini, Ranieri Verin, Fabrizio Dini, Anna‐Rita Attili, Sara Berardi, Lucia Biagini, Patrizia Robino, Maria Cristina Stella, Dora Yearout, Michael O. Dorschner, Debby W. Tsuang, Giacomo Rossi, Cyrus P. Zabetian

Several genetic models that recapitulate neurodegenerative features of Parkinson's disease (PD) exist, which have been largely based on genes discovered in monogenic PD families. However, spontaneous genetic mutations have not been linked to the path

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e443c247ae1df0725dec44fda8286871
https://hdl.handle.net/11577/3462764

Laboratory-related outcomes from integrating an accessible delivery model for hereditary cancer risk assessment and genetic testing in populations with barriers to access

Autor: Laura M. Amendola, Elizabeth Shuster, Michael C. Leo, Michael O. Dorschner, Bradley A. Rolf, Brian H. Shirts, Marian J. Gilmore, Sonia Okuyama, Jamilyn M. Zepp, Tia L. Kauffman, Kathleen F. Mittendorf, Cecilia Bellcross, Charisma L. Jenkins, Galen Joseph, Leslie Riddle, Sapna Syngal, Chinedu Ukaegbu, Katrina A.B. Goddard, Benjamin S. Wilfond, Gail P. Jarvik, Jake Allen, Katherine P. Anderson, Frank Angelo, Briana L. Arnold, Cecelia Bellcross, Tiffany Bendelow, Barbara B. Biesecker, Kristin D. Breslin, Joanna E. Bulkley, Kristina F. Booker, Mikaella Caruncho, James V. Davis, Sonia Deutsch, Beth Devine, Devan M. Duenas, Donna J. Eubanks, Heather Spencer Feigelson, Amanda S. Freed, Clay Greaney, Inga Gruß, Claudia Guerra, Boya Guo, Joan Holup, Jessica Ezzell Hunter, Chalinya L. Ingphakorn, Paige Jackson, Leah S. Karliner, Erin Keast, Sarah Knerr, Alyssa H. Koomas, Stephanie A. Kraft, Mi H. Lee, Robin Lee, Sandra Soo-Jin Lee, Hannah S. Lewis, Elizabeth G. Liles, Nangel M. Lindberg, Frances Lynch, Carmit K. McMullen, Elizabeth Medina, Kristin R. Muessig, C. Samuel Peterson, Angela R. Paolucci, Rosse Rodriguez Perez, Kathryn M. Porter, Chelese L. Ransom, Ana Reyes, Leslie S. Riddle, Sperry Robinson, Alan F. Rope, Emily Schield, Jennifer L. Schneider, Kelly J. Shipman, Britta N. Torgrimson-Ojerio, Meredith L. Vandermeer, Alexandra M. Varga, David L. Veenstra, W. Chris Whitebirch, Larissa Lee White

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics. 24(6)

This study aimed to evaluate the laboratory-related outcomes of participants who were offered genomic testing based on cancer family history risk assessment tools.Patients from clinics that serve populations with access barriers, who are screened at

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4e0d7fb94390fcffb33cd64130469a2
https://pubmed.ncbi.nlm.nih.gov/35305866