Výsledky vyhledávání - "Patricia L, Kramer"

ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology

Autor: Randall L. Woltjer, Li-San Wang, Jonathan L. Haines, Ishita Parikh, Julie A. Schneider, Paul K. Crane, Erin L. Abner, Craig Horbinski, Manasi Malik, Maria M. Corrada, Amanda Partch, KatieRose Richmire, Peter T. Nelson, Sarah E. Monsell, Gregory A. Jicha, Richard Mayeux, David H. Cribbs, Claudia H. Kawas, Bernard R. Wilfred, Kannabiran Nandakumar, David W. Fardo, Margaret A. Pericak-Vance, Leonard W. Poon, Steven Estus, Eric B. Larson, Richard J. Kryscio, Lindsay A. Farrer, Alexander J. Rajic, Thomas J. Montine, Otto Valladares, Wayne W. Poon, Wang-Xia Wang, Frederick A. Schmitt, Robert C. Green, Walter A. Kukull, Gerard D. Schellenberg, Marla Gearing, Linda J. Van Eldik, Mark L. Farman, Joshua A. Sonnen, Eseosa T. Ighodaro, Charles D. Smith, Stephen W. Scheff, Patricia L. Kramer, Janna H. Neltner, David A. Bennett

Publikováno v: Nelson, PT; Estus, S; Abner, EL; Parikh, I; Malik, M; Neltner, JH; et al.(2014). ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology. Acta Neuropathologica, 127(6), 825-843. doi: 10.1007/s00401-014-1282-2. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/4fr967hw

Hippocampal sclerosis of aging (HS-Aging) is a high-morbidity brain disease in the elderly but risk factors are largely unknown. We report the first genome-wide association study (GWAS) with HS-Aging pathology as an endophenotype. In collaboration wi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0678fe7e51f00665e8797315c3167c1b
https://doi.org/10.1007/s00401-014-1282-2

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Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis

Autor: Marla Gearing, David G. Clark, Steven L. Carroll, Marianne Johnstone, Darwin L. Conwell, Gregory A. Cote, Sandra Weintraub, Matthew P. Frosch, Stuart Sherman, Badri N. Vardarajan, Joshua A. Sonnen, Lindy E. Harrell, Peter B. Cotton, Lisa L. Barnes, Lawrence S. Honig, Carol A. Miller, Adam Slivka, Michelle A. Anderson, Nadine M. Melhem, David A. Bennett, Joel H. Kramer, Jill P. Smith, Michele D. Lewis, Mary Ganguli, Jean Paul Vonsatte, Thomas J. Montine, Lee-Way Jin, Kenneth B. Fallon, Marilyn S. Albert, Eliezer Masliah, John H. Growdon, Barry Reisberg, Chuanhai Cao, Patricia L. Kramer, Douglas J. Hartman, Allan I. Levey, Jennifer Williamson, Vivianna M. Van Deerlin, Wayne W. Poon, Alison Goate, Vijay P. Singh, Bernie Devlin, Christiane Reitz, Ann C. McKee, Amanda Smith, Neill R. Graff-Radford, Walter A. Kukul, John Baillie, Andres Gelrud, Ranjan Duara, Thomas D. Bird, Clinton B. Wright, Deborah Blacker, Chiao-Feng Lin, Ge Li, Ronald C. Kim, Deborah C. Mash, Debby W. Tsuang, John P. Neoptolemos, Timothy B. Gardner, Kathryn L. Lunetta, Steven G. Younkin, Kara L. Hamilton-Nelson, Ronald L. Hamilton, F. Yesim Demirci, Eric M. Reiman, Charles DeCarli, John M Olichney, Richard Mayeux, Gregory A. Jicha, Michael R. O'Connell, Matt Tector, Eileen H. Bigio, Jonathan D. Glass, M. Ilyas Kamboh, Randall E. Brand, Christopher Lawrence, Steven E. Arnold, Jessica LaRusch, Elaine R. Peskind, David H. Cribbs, M.-Marsel Mesulam, Constantine G. Lyketsos, Michelle L. Kienholz, Frank M. LaFerla, Duane Beekly, Kelley Faber, Salvatore Spina, Gyungah Jun, Thiruvengadam Muniraj, Erik D. Roberson, Anna Karydas, Steven H. Ferris, Bruce L. Miller, Randall L. Woltjer, Li-San Wang, Lon S. Schneider, John C. Morris, John Q. Trojanowski, Jeffrey Kaye, Joseph E. Parisi, Nilufer Ertekin-Taner, Harry V. Vinters, Lidiya Orlichenko, Robert Barber, Chris E. Forsmark, Mary Sano, Bimaljit S. Sandhu, Peter A. Banks, Martin R. Farlow, Bradley T. Hyman, Joseph F. Quinn, Gary W. Beecham, James A. DiSario, Hakon Hakonarson, Daniel C. Marson, Adam C. Naj, Frank Martiniuk, Oscar L. Lopez, Mary E. Money, Julia Mayerle, William Greenhalf, Kathryn Roeder, Adam L. Boxer, Christine M. Hulette, Gerard D. Schellenberg, Georgios I. Papachristou, Douglas Galasko, James R. Burke, Donna B. Stolz, Murray A. Raskind, Peter Simon, Linda J. Van Eldik, Robert A. Hawes, Chang En Yu, Tatiana Foroud, Jonathan L. Haines, Stephen R. Wisniewski, William W. Seeley, Dhiraj Yadav, James J. Lah, C. Mel Wilcox, Sid Gilman, Liana G. Apostolova, Howard J. Rosen, Clinton T. Baldwin, Robert S. Stern, Narcis O. Zarnescu, Dennis W. Dickson, Margaret A. Pericak-Vance, Ashok Raj, Stephen T. Amann, Joseph D. Buxbaum, Ronald C. Petersen, Robert C. Green, David C. Whitcomb, Rudolph E. Tanzi, Lindsay A. Farrer, Helena C. Chui, Laura B. Cantwell, Wendy J. Mack, Samer Alkaade, Nigel J. Cairns, Thomas G. Beach, Frank Ulrich Weiss, Alyssa M. Krasinskas, Elizabeth Head, Nalini M. Guda, Julie A. Schneider, Malcolm B. Dick, Roger N. Rosenberg, Jill R. Murrel, Otto Valladares, Andrew J. Saykin, Huntington Potter, John R. Gilbert, Neil W. Kowall, Joseph Romagnuolo, Markus M. Lerch, Aimee Pierce, Roger L. Albin, John M. Ringman, James B. Leverenz, Carlos Cruchaga, Joshua W. Miller, Lei Yu, M. Michael Barmada, Lambertus Klei, Andrew P. Lieberman, Bernardino Ghetti, Robert Sutton, Kathleen A. Welsh-Bohmer, Juan C. Troncoso, Edward H. Koo, Elizabeth Crocco, Eden R. Martin, Daniel H. Geschwind, Regina M. Carney

Publikováno v: Nature genetics

Pancreatitis is a complex, progressively destructive inflammatory disorder. Alcohol was long thought to be the primary causative agent, but genetic contributions have been of interest since the discovery that rare PRSS1, CFTR and SPINK1 variants were

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f0af8515a19bbcd51602984c2eff7ec
http://europepmc.org/articles/PMC3510344

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Review of selected databases of longitudinal aging studies

Autor: Lena Sherbakov, Randy Woltjer, Andrea M. Piccinin, Scott M. Hofer, Hiroko H. Dodge, Joseph F. Quinn, Patricia L. Kramer, Deniz Erten-Lyons, Jeffrey Kaye

Publikováno v: Alzheimer's & Dementia. 8:584-589

One of the recommendations of the 2010 Leon Thal Symposium, organized to develop strategies to prevent Alzheimer's disease, was to build a global database of longitudinal aging studies. Although several databases of longitudinal aging studies exist,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::266a01fa7a6571200fc432687049dbee
https://doi.org/10.1016/j.jalz.2011.09.232

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GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology

Publikováno v: Neurology. 79:1944-1950

Objectives: Mutations in the GBA gene occur in 7% of patients with Parkinson disease (PD) and are a well-established susceptibility factor for PD, which is characterized by Lewy body disease (LBD) neuropathologic changes (LBDNCs). We sought to determ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ccdc6444da3dfb9f775a3cb9a94b2d06
https://doi.org/10.1212/wnl.0b013e3182735e9a

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Variants in ASB10 are associated with open-angle glaucoma

Autor: Yong Feng Yang, André Reis, Ursula Schlötzer-Schrehardt, Nicole Weisschuh, John R. Samples, Christian Y. Mardin, Mary K. Wirtz, Paolo Frezzotti, Ted S. Acott, Heinrich Sticht, Francesca Pasutto, Beth Edmunds, Matthias Zenkel, Kate E. Keller, Eugen Gramer, Patricia L. Kramer

Publikováno v: Human Molecular Genetics. 21:1336-1349

The molecular events responsible for obstruction of aqueous humor outflow and the loss of retinal ganglion cells in glaucoma, one of the main causes of blindness worldwide, remain poorly understood. We identified a synonymous variant, c.765C>T (Thr25

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7921f42f5caeabf0e0784aaef53ddabc
https://doi.org/10.1093/hmg/ddr572

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Alzheimer disease pathology in cognitively healthy elderly: A genome-wide study

Autor: Patricia L. Kramer, Randall L. Woltjer, Kathleen A. Welsh-Bohmer, David G. Clark, William R. Markesbery, Haiyan Xu, R. Scott Turner, Jeffrey Kaye, Walter A. Kukull, John C. Morris, Deniz Erten-Lyons, Juan C. Troncoso, David A. Bennett, Ronald C. Petersen, Douglas Galasko, Jurg Ott, Shawn K. Westaway

Publikováno v: Neurobiology of Aging. 32:2113-2122

Many elderly individuals remain dementia-free throughout their life. However, some of these individuals exhibit Alzheimer disease neuropathology on autopsy, evidenced by neurofibrillary tangles (NFTs) in AD-specific brain regions. We conducted a geno

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6209060c06c9d33ea7bab1e70e3b4e26
https://doi.org/10.1016/j.neurobiolaging.2010.01.010

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Common variants in MS4A4/MS4A6E, CD2uAP, CD33, and EPHA1 are associated with late-onset Alzheimer’s disease

Autor: Bradley T. Hyman, Tatiana Foroud, James J. Lah, Roger N. Rosenberg, Philip L. De Jager, John M. Ringman, Thomas D. Bird, Ramon Diaz-Arrastia, Wayne W. Poon, Barry Reisberg, Juan C. Troncoso, Peter St George-Hyslop, Deborah Blacker, Ronald C. Kim, Adam L. Boxer, Gerard D. Schellenberg, Douglas Galasko, John Hardy, Erik D. Roberson, Minerva M. Carrasquillo, Richard Mayeux, Steven L. Carroll, Elaine R. Peskind, Walter A. Kukull, Marla Gearing, Lee-Way Jin, Paul K. Crane, James D. Bowen, Deborah C. Mash, Carol A. Miller, Eileen H. Bigio, Duane Beekly, Kenneth B. Fallon, Bruce L. Miller, Eliezer Masliah, Charles DeCarli, Gyungah Jun, Mary Ganguli, M. Ilyas Kamboh, Steven E. Arnold, Patricia L. Kramer, Gregory A. Jicha, David G. Clark, Lon S. Schneider, William G. Ellis, Anna Karydas, Alison Goate, Michael A. Slifer, Matthew P. Frosch, Steven G. Younkin, Steven T. DeKosky, F. Yesim Demirci, John Q. Trojanowski, Jeffrey Kaye, Sandra Weintraub, Jonathan D. Glass, Lindy E. Harrell, Adam C. Naj, Frank Martiniuk, Harry V. Vinters, Gail P. Jarvik, Ronald L. Hamilton, Ruchita Rajbhandary, Wayne C. McCormick, Neill R. Graff-Radford, Allan I. Levey, Jennifer Williamson, Daniel C. Marson, Andrew McDavid, John R. Gilbert, Thomas H. Beach, Christine M. Hulette, David A. Bennett, William P. Seeley, Christopher S. Carlson, Amanda J. Myers, Hakon Hakonarson, Debby W. Tsuang, Kathryn L. Lunetta, James R. Burke, Sid Gilman, John C. Morris, Bradley F. Boeve, Oscar L. Lopez, Nilufer Ertekin-Taner, Thomas J. Montine, Daniel P. Perl, Eric M. Reiman, Joseph F. Quinn, Susan M. McCurry, Paul Gallins, Murray A. Raskind, Badri N. Vardarajan, Joshua A. Sonnen, Robert S. Stern, Denis A. Evans, Lawrence S. Honig, Ekaterina Rogaeva, John H. Growdon, Michael L. Shelanski, Vivianna M. Van Deerlin, Joseph E. Parisi, Mary Sano, Dennis W. Dickson, Steven H. Ferris, Randall L. Woltjer, Li-San Wang, Jonathan L. Haines, Bruno Giordani, Martin R. Farlow, Jason J. Corneveaux, Gary W. Beecham, Clinton T. Baldwin, Ann C. McKee, Jean Paul Vonsattel, Julie A. Schneider, Malcolm B. Dick, Kelley Faber, John S. K. Kauwe, Neil W. Kowall, Wendy J. Mack, W Marsel Mesulam, Nigel J. Cairns, Nancy Johnson, Jacqueline L. Buros, Eric B. Larson, Ronald C. Petersen, Laura B. Cantwell, Margaret A. Pericak-Vance, Elizabeth Head, Petra Nowotny, Joseph D. Buxbaum, Andrew J. Saykin, Robert C. Green, Lindsay A. Farrer, Carlos Cruchaga, Joshua W. Miller, Matthew J. Huentelman, Rudolph E. Tanzi, Beth A. Dombroski, Andrew P. Lieberman, Daniel H. Geschwind, Robert W Barber, Jeffrey L. Cummings, Charles D. Smith, Bernardino Ghetti, Salvatore Spina, Regina M. Carney, Kathleen A. Welsh-Bohmer, Jason Karlawish, Edward H. Koo, Eden R. Martin, M. Michael Barmada, Carl W. Cotman, Helena C. Chui

Publikováno v: Nature genetics

The Alzheimer Disease Genetics Consortium (ADGC) performed a genome-wide association study of late-onset Alzheimer disease using a three-stage design consisting of a discovery stage (stage 1) and two replication stages (stages 2 and 3). Both joint an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f5643882a13dc63b3c672e16c446352
http://europepmc.org/articles/PMC3090745

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Functional Screening of Alzheimer Pathology Genome-wide Association Signals in Drosophila

Autor: Cristin Aubin, Joshua M. Shulman, Portia Chipendo, Mel B. Feany, Julie A. Schneider, Philip L. De Jager, Lori B. Chibnik, Patricia L. Kramer, Dong Tran, David A. Bennett, Brendan T. Keenan

Publikováno v: The American Journal of Human Genetics. 88(2):232-238

We have leveraged a Drosophila model relevant to Alzheimer disease (AD) for functional screening of findings from a genome-wide scan for loci associated with a quantitative measure of AD pathology in humans. In six of the 15 genomic regions evaluated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ae5cccff0c226ff16ee88cedc2f8b9b

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The FAS gene, brain volume, and disease progression in Alzheimer's disease

Autor: Jeffrey Kaye, Deniz Erten-Lyons, Patricia L. Kramer, Anne Jacobson, Andrew Grupe

Publikováno v: Alzheimer's & Dementia. 6:118-124

We sought to identify single-nucleotide polymorphisms (SNPs) associated with Alzheimer's disease (AD) progression and brain volume.Ninety-seven SNPs were genotyped in 243 subjects from a longitudinal study of healthy aging. Subjects who received a di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::850586b5dab9e997bf586c8c4fcc974d
https://doi.org/10.1016/j.jalz.2009.05.663

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