Targeted sequencing of ABCA7 identifies splicing, stop-gain and intronic risk variants for Alzheimer disease

Autor: Jeffery M. Vance, Goldie S. Byrd, Kara L. Hamilton-Nelson, Rosalyn Lang, Margaret A. Pericak-Vance, Brian W. Kunkle, Adam C. Naj, Patrice L. Whitehead, J. R. Gilbert, Eden R. Martin, Liyong Wang, Regina M. Carney, Martin A. Kohli, Jonathan L. Haines, Michael L. Cuccaro, Gary W. Beecham

Publikováno v: Neuroscience letters. 649

Several variants in the gene ABCA7 have been identified as potential causal variants for late-onset Alzheimer’s disease (LOAD). In order to replicate these findings, and search for novel causal variants, we performed targeted sequencing of this gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f31792c23bd875796e61bf9eb9139af
https://pubmed.ncbi.nlm.nih.gov/28400126

P3‐346: Assessment of the Needs of Alzheimer's Disease Caregivers in the African American Community

Autor: Takiyah D. Starks, Goldie S. Byrd, Sharon Cook, Rosalyn Lang, Corey Young, Dora Som-Pimpong, George Crawford

Publikováno v: Alzheimer's & Dementia. 12

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1e6116a11e5a386b9675156eae66e4b0
https://doi.org/10.1016/j.jalz.2016.06.2011

ABCA7 frameshift deletion associated with Alzheimer disease in African Americans

Autor: Jeffery M. Vance, Derek J. Van Booven, Lindsay A. Farrer, Margaret A. Pericak-Vance, Brian W. Kunkle, Gerard D. Schellenberg, Holly N. Cukier, Sophie Rolati, Kara L. Hamilton-Nelson, Derek M. Dykxhoorn, Rosalyn Lang, Patrice L. Whitehead, Beth A. Dombroski, Richard Mayeux, Jonathan L. Haines, Eden R. Martin, John R. Gilbert, Regina M. Carney, Goldie S. Byrd, Michael L. Cuccaro, Martin A. Kohli, Badri N. Vardarajan, Gary W. Beecham

Publikováno v: Neurology: Genetics

Objective: To identify a causative variant(s) that may contribute to Alzheimer disease (AD) in African Americans (AA) in the ATP-binding cassette, subfamily A ( ABC1 ), member 7 ( ABCA7 ) gene, a known risk factor for late-onset AD. Methods: Custom c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c104e978f2b33c55ca06b8f6b5052f7c
http://europepmc.org/articles/PMC4871806

Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals

Autor: Lee-Way Jin, Rudolph E. Tanzi, Lisa L. Barnes, Neill R. Graff-Radford, Joel H. Kramer, Tatiana Foroud, John R. Gilbert, Wayne W. Poon, Philip L. De Jager, Lei Yu, John M. Ringman, James J. Lah, Marla Gearing, David A. Bennett, Susan M. McCurry, Kenneth B. Fallon, Clinton B. Wright, Deborah Blacker, Bradley T. Hyman, Patricia L. Kramer, Joseph F. Quinn, Alison Goate, Gail P. Jarvik, Allan I. Levey, Jennifer Williamson, Mary Ganguli, Carlos Cruchaga, Julie A. Schneider, Amanda Smith, Eric M. Reiman, Lon S. Schneider, Steven H. Ferris, Richard Mayeux, Randall L. Woltjer, Li-San Wang, Goldie S. Byrd, Malcolm B. Dick, Towfique Raj, Steven L. Carroll, Carol A. Miller, Bradley F. Boeve, John S. K. Kauwe, Elaine R. Peskind, Hugh C. Hendrie, R. C. Kim, Jonathan D. Glass, Helena C. Chui, Guiqing Cai, Deborah C. Mash, Gyungah Jun, James Bowen, Marilyn S. Albert, Kathryn L. Lunetta, Huntington Potter, Walter A. Kukull, Paul K. Crane, Neil W. Kowall, Mark W. Logue, Lindsay A. Farrer, Jean Paul G. Vonsattel, Chang-En Yu, Thomas G. Beach, Gary W. Beecham, Erik D. Roberson, John M Olichney, Gerard D. Schellenberg, Harry V. Vinters, Chiao-Feng Lin, Bruce L. Miller, Duane Beekly, Daniel H. Geschwind, Murray A. Raskind, Kara L. Hamilton-Nelson, Jill R. Murrell, Linda J. Van Eldik, Wendy J. Mack, A. Karydas, Douglas Galasko, Barry Reisberg, Thomas O. Obisesan, Aimee Pierce, Andrew McDavid, Salvatore Spina, M.-Marsel Mesulam, Steven T. DeKosky, Andrew P. Lieberman, Ann C. McKee, Robert Barber, Nigel J. Cairns, Roger L. Albin, Bernardino Ghetti, Nilufer Ertekin-Taner, Kathleen A. Welsh-Bohmer, James B. Leverenz, M. Michael Barmada, F. Yesim Demirci, Hakon Hakonarson, Rodney C.P. Go, Oscar L. Lopez, Joseph D. Buxbaum, Adam C. Naj, Frank Martiniuk, Charles DeCarli, Otto Valladares, Andrew J. Saykin, Kelley Faber, Christine M. Hulette, John C. Morris, M. Ilyas Kamboh, Eliezer Masliah, Christine Sato, Steven E. Arnold, James R. Burke, Daniel C. Marson, Edward H. Koo, Ronald C. Petersen, David G. Clark, William W. Seeley, Robert C. Green, Constantine G. Lyketsos, Rosalyn Lang-Walker, John Q. Trojanowski, Jeffrey Kaye, Eileen H. Bigio, Laura B. Cantwell, Matthew P. Frosch, Jonathan L. Haines, Debby W. Tsuang, Juan C. Troncoso, Joshua W. Miller, Denis A. Evans, Kathleen S. Hall, Frank M. LaFerla, Joseph E. Parisi, Elizabeth Crocco, Mary Sano, Mahdi Ghani, Patrick Griffith, Margaret A. Pericak-Vance, Ashok Raj, Christopher S. Carlson, Jennifer J. Manly, Sid Gilman, Thomas J. Montine, Chuanhai Cao, A. Boxer, Ekaterina Rogaeva, Steven G. Younkin, Ronald L. Hamilton, Rong Cheng, Vahram Haroutunian, Peter St George-Hyslop, Liana G. Apostolova, M. Daniele Fallin, Clinton T. Baldwin, Ruchita Rajbhandary, Robert S. Stern, Sandra Weintraub, David H. Cribbs, Lindy E. Harrell, Wayne C. McCormick, Ge Li, Christiane Reitz, Eric B. Larson, Thomas D. Bird, Gregory A. Jicha, Regina M. Carney, Badri N. Vardarajan, Joshua A. Sonnen, Lawrence S. Honig, Joseph H. Lee, John H. Growdon, Vivianna M. Van Deerlin

Importance Mutations in known causal Alzheimer disease (AD) genes account for only 1% to 3% of patients and almost all are dominantly inherited. Recessive inheritance of complex phenotypes can be linked to long (>1-megabase [Mb]) runs of homozygosity

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e9512213c03d4237678336b2950f84b
https://europepmc.org/articles/PMC4641052/

Functional Analysis of a Troponin I (R145G) Mutation Associated with Familial Hypertrophic Cardiomyopathy

Autor: Aldrin V. Gomes, Todd Miller, Philippe R. Housmans, Rosalyn Lang, Jiaju Zhao, James D. Potter

Publikováno v: Journal of Biological Chemistry. 277:11670-11678

Familial hypertrophic cardiomyopathy has been associated with several mutations in the gene encoding human cardiac troponin I (HCTnI). A missense mutation in the inhibitory region of TnI replaces an arginine residue at position 145 with a glycine and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9254921ccbdf26b8e56669b2a44dae2
https://doi.org/10.1074/jbc.m108912200