Search Results - "Carrasquillo, M. M"

Genome-wide association analysis of age-at-onset in Alzheimer's disease by Kamboh, M I, Barmada, M M, Demirci, F Y, Minster, R L, Carrasquillo, M M, Pankratz, V S, Younkin, S G, Saykin, A J, Sweet, R A, Feingold, E, DeKosky, S T, Lopez, O L

“…The risk of Alzheimer's disease (AD) is strongly determined by genetic factors and recent genome-wide association studies (GWAS) have identified several genes…”
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Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight by Ebbert, Mark T W, Jensen, Tanner D, Jansen-West, Karen, Sens, Jonathon P, Reddy, Joseph S, Ridge, Perry G, Kauwe, John S K, Belzil, Veronique, Pregent, Luc, Carrasquillo, Minerva M, Keene, Dirk, Larson, Eric, Crane, Paul, Asmann, Yan W, Ertekin-Taner, Nilufer, Younkin, Steven G, Ross, Owen A, Rademakers, Rosa, Petrucelli, Leonard, Fryer, John D

“…The human genome contains "dark" gene regions that cannot be adequately assembled or aligned using standard short-read sequencing technologies, preventing…”
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Differential clinicopathologic and genetic features of late-onset amnestic dementias by Murray, Melissa E., Cannon, Ashley, Graff-Radford, Neill R., Liesinger, Amanda M., Rutherford, Nicola J., Ross, Owen A., Duara, Ranjan, Carrasquillo, Minerva M., Rademakers, Rosa, Dickson, Dennis W.

“…Hippocampal sclerosis of the elderly (HpScl) and Alzheimer’s disease (AD), especially the limbic-predominant subtype (LP-AD), are amnestic syndromes that can…”
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Comparative evaluation for the globin gene depletion methods for mRNA sequencing using the whole blood-derived total RNAs by Jang, Jin Sung, Berg, Brianna, Holicky, Eileen, Eckloff, Bruce, Mutawe, Mark, Carrasquillo, Minerva M, Ertekin-Taner, Nilüfer, Cuninngham, Julie M

“…There are challenges in generating mRNA-Seq data from whole-blood derived RNA as globin gene and rRNA are frequent contaminants. Given the abundance of…”
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Human whole genome genotype and transcriptome data for Alzheimer’s and other neurodegenerative diseases by Allen, Mariet, Carrasquillo, Minerva M., Funk, Cory, Heavner, Benjamin D., Zou, Fanggeng, Younkin, Curtis S., Burgess, Jeremy D., Chai, High-Seng, Crook, Julia, Eddy, James A., Li, Hongdong, Logsdon, Ben, Peters, Mette A., Dang, Kristen K., Wang, Xue, Serie, Daniel, Wang, Chen, Nguyen, Thuy, Lincoln, Sarah, Malphrus, Kimberly, Bisceglio, Gina, Li, Ma, Golde, Todd E., Mangravite, Lara M., Asmann, Yan, Price, Nathan D., Petersen, Ronald C., Graff-Radford, Neill R., Dickson, Dennis W., Younkin, Steven G., Ertekin-Taner, Nilüfer

“…Previous genome-wide association studies (GWAS), conducted by our group and others, have identified loci that harbor risk variants for neurodegenerative…”
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Cross species systems biology discovers glial DDR2, STOM, and KANK2 as therapeutic targets in progressive supranuclear palsy by Min, Yuhao, Wang, Xue, İş, Özkan, Patel, Tulsi A., Gao, Junli, Reddy, Joseph S., Quicksall, Zachary S., Nguyen, Thuy, Lin, Shu, Tutor-New, Frederick Q., Chalk, Jessica L., Mitchell, Adriana O., Crook, Julia E., Nelson, Peter T., Van Eldik, Linda J., Golde, Todd E., Carrasquillo, Minerva M., Dickson, Dennis W., Zhang, Ke, Allen, Mariet, Ertekin-Taner, Nilüfer

“…Progressive supranuclear palsy (PSP) is a neurodegenerative parkinsonian disorder characterized by cell-type-specific tau lesions in neurons and glia. Prior…”
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Alzheimer's disease and progressive supranuclear palsy share similar transcriptomic changes in distinct brain regions by Wang, Xue, Allen, Mariet, İş, Özkan, Reddy, Joseph S, Tutor-New, Frederick Q, Castanedes Casey, Monica, Carrasquillo, Minerva M, Oatman, Stephanie R, Min, Yuhao, Asmann, Yan W, Funk, Cory, Nguyen, Thuy, Ho, Charlotte Cg, Malphrus, Kimberly G, Seyfried, Nicholas T, Levey, Allan I, Younkin, Steven G, Murray, Melissa E, Dickson, Dennis W, Price, Nathan D, Golde, Todd E, Ertekin-Taner, Nilüfer

“…Vast numbers of differentially expressed genes and perturbed networks have been identified in Alzheimer's disease (AD), however, neither disease nor brain…”
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Tau and apolipoprotein E modulate cerebrovascular tight junction integrity independent of cerebral amyloid angiopathy in Alzheimer's disease by Liu, Chia‐Chen, Yamazaki, Yu, Heckman, Michael G., Martens, Yuka A., Jia, Lin, Yamazaki, Akari, Diehl, Nancy N., Zhao, Jing, Zhao, Na, DeTure, Michael, Davis, Mary D., Felton, Lindsey M., Qiao, Wenhui, Li, Yonghe, Li, Hongmei, Fu, Yuan, Wang, Na, Wren, Melissa, Aikawa, Tomonori, Holm, Marie‐Louise, Oue, Hiroshi, Linares, Cynthia, Allen, Mariet, Carrasquillo, Minerva M., Murray, Melissa E., Petersen, Ronald C., Ertekin‐Taner, Nilüfer, Dickson, Dennis W., Kanekiyo, Takahisa, Bu, Guojun

“…Introduction Cerebrovascular pathologies including cerebral amyloid angiopathy (CAA) and blood‐brain barrier (BBB) dysregulation are prominent features in the…”
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Deciphering cellular transcriptional alterations in Alzheimer's disease brains by Wang, Xue, Allen, Mariet, Li, Shaoyu, Quicksall, Zachary S, Patel, Tulsi A, Carnwath, Troy P, Reddy, Joseph S, Carrasquillo, Minerva M, Lincoln, Sarah J, Nguyen, Thuy T, Malphrus, Kimberly G, Dickson, Dennis W, Crook, Julia E, Asmann, Yan W, Ertekin-Taner, Nilüfer

“…Large-scale brain bulk-RNAseq studies identified molecular pathways implicated in Alzheimer's disease (AD), however these findings can be confounded by…”
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ABI3 and PLCG2 missense variants as risk factors for neurodegenerative diseases in Caucasians and African Americans by Conway, Olivia J, Carrasquillo, Minerva M, Wang, Xue, Bredenberg, Jenny M, Reddy, Joseph S, Strickland, Samantha L, Younkin, Curtis S, Burgess, Jeremy D, Allen, Mariet, Lincoln, Sarah J, Nguyen, Thuy, Malphrus, Kimberly G, Soto, Alexandra I, Walton, Ronald L, Boeve, Bradley F, Petersen, Ronald C, Lucas, John A, Ferman, Tanis J, Cheshire, William P, van Gerpen, Jay A, Uitti, Ryan J, Wszolek, Zbigniew K, Ross, Owen A, Dickson, Dennis W, Graff-Radford, Neill R, Ertekin-Taner, Nilüfer

“…Rare coding variants ABI3_rs616338-T and PLCG2_rs72824905-G were identified as risk or protective factors, respectively, for Alzheimer's disease (AD). We…”
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Ataxin-2 repeat-length variation and neurodegeneration by Ross, Owen A., Rutherford, Nicola J., Baker, Matt, Soto-Ortolaza, Alexandra I., Carrasquillo, Minerva M., DeJesus-Hernandez, Mariely, Adamson, Jennifer, Li, Ma, Volkening, Kathryn, Finger, Elizabeth, Seeley, William W., Hatanpaa, Kimmo J., Lomen-Hoerth, Catherine, Kertesz, Andrew, Bigio, Eileen H., Lippa, Carol, Woodruff, Bryan K., Knopman, David S., White, Charles L., Van Gerpen, Jay A., Meschia, James F., Mackenzie, Ian R., Boylan, Kevin, Boeve, Bradley F., Miller, Bruce L., Strong, Michael J., Uitti, Ryan J., Younkin, Steven G., Graff-Radford, Neill R., Petersen, Ronald C., Wszolek, Zbigniew K., Dickson, Dennis W., Rademakers, Rosa

“…Expanded glutamine repeats of the ataxin-2 (ATXN2) protein cause spinocerebellar ataxia type 2 (SCA2), a rare neurodegenerative disorder. More recent studies…”
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Genome-wide association study of brain biochemical phenotypes reveals distinct genetic architecture of Alzheimer's disease related proteins by Oatman, Stephanie R, Reddy, Joseph S, Quicksall, Zachary, Carrasquillo, Minerva M, Wang, Xue, Liu, Chia-Chen, Yamazaki, Yu, Nguyen, Thuy T, Malphrus, Kimberly, Heckman, Michael, Biswas, Kristi, Nho, Kwangsik, Baker, Matthew, Martens, Yuka A, Zhao, Na, Kim, Jun Pyo, Risacher, Shannon L, Rademakers, Rosa, Saykin, Andrew J, DeTure, Michael, Murray, Melissa E, Kanekiyo, Takahisa, Dickson, Dennis W, Bu, Guojun, Allen, Mariet, Ertekin-Taner, Nilüfer

“…Alzheimer's disease (AD) is neuropathologically characterized by amyloid-beta (Aβ) plaques and neurofibrillary tangles. The main protein components of these…”
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TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers by FINCH, N, CARRASQUILLO, M. M, CROOK, J, FINGER, E, HANTANPAA, K. J, KARYDAS, A. M, SENGDY, P, GONZALEZ, J, SEELEY, W. W, JOHNSON, N, BEACH, T. G, MESULAM, M, BAKER, M, FORLONI, G, KERTESZ, A, KNOPMAN, D. S, UITTI, R, WHITE, C. L, CASELLI, R, LIPPA, C, BIGIO, E. H, WSZOLEK, Z. K, BINETTI, G, RUTHERFORD, N. J, MACKENZIE, I. R, MILLER, B. L, BOEVE, B. F, YOUNKIN, S. G, DICKSON, D. W, PETERSEN, R. C, GRAFF-RADFORD, N. R, GESCHWIND, D. H, RADEMAKERS, R, COPPOLA, G, DEJESUS-HERNANDEZ, M, CROOK, R, HUNTER, T, GHIDONI, R, BENUSSI, L

“…To determine whether TMEM106B single nucleotide polymorphisms (SNPs) are associated with frontotemporal lobar degeneration (FTLD) in patients with and without…”
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Genome-wide association study of Alzheimer's disease by Kamboh, M I, Demirci, F Y, Wang, X, Minster, R L, Carrasquillo, M M, Pankratz, V S, Younkin, S G, Saykin, A J, Jun, G, Baldwin, C, Logue, M W, Buros, J, Farrer, L, Pericak-Vance, M A, Haines, J L, Sweet, R A, Ganguli, M, Feingold, E, DeKosky, S T, Lopez, O L, Barmada, M M

“…In addition to apolipoprotein E ( APOE ), recent large genome-wide association studies (GWASs) have identified nine other genes/loci ( CR1, BIN1, CLU , PICALM,…”
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Impact of variant-level batch effects on identification of genetic risk factors in large sequencing studies by Wickland, Daniel P, Ren, Yingxue, Sinnwell, Jason P, Reddy, Joseph S, Pottier, Cyril, Sarangi, Vivekananda, Carrasquillo, Minerva M, Ross, Owen A, Younkin, Steven G, Ertekin-Taner, Nilüfer, Rademakers, Rosa, Hudson, Matthew E, Mainzer, Liudmila Sergeevna, Biernacka, Joanna M, Asmann, Yan W

“…Genetic studies have shifted to sequencing-based rare variants discovery after decades of success in identifying common disease variants by Genome-Wide…”
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Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease by Chakravarti, Aravinda, Carrasquillo, Minerva M, McCallion, Andrew S, Puffenberger, Erik G, Kashuk, Carl S, Nouri, Nassim

“…Genetic studies of Hirschsprung disease, a common congenital malformation, have identified eight genes with mutations that can be associated with this…”
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Identification of missing variants by combining multiple analytic pipelines by Ren, Yingxue, Reddy, Joseph S, Pottier, Cyril, Sarangi, Vivekananda, Tian, Shulan, Sinnwell, Jason P, McDonnell, Shannon K, Biernacka, Joanna M, Carrasquillo, Minerva M, Ross, Owen A, Ertekin-Taner, Nilüfer, Rademakers, Rosa, Hudson, Matthew, Mainzer, Liudmila Sergeevna, Asmann, Yan W

“…After decades of identifying risk factors using array-based genome-wide association studies (GWAS), genetic research of complex diseases has shifted to…”
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Modulating innate immune activation states impacts the efficacy of specific Aβ immunotherapy by Levites, Yona, Funk, Cory, Wang, Xue, Chakrabarty, Paramita, McFarland, Karen N, Bramblett, Baxter, O'Neal, Veronica, Liu, Xufei, Ladd, Thomas, Robinson, Max, Allen, Mariet, Carrasquillo, Minerva M, Dickson, Dennis, Cruz, Pedro, Ryu, Danny, Li, Hong-Dong, Price, Nathan D, Ertekin-Taner, NIlüfer, Golde, Todd E

“…Passive immunotherapies targeting Aβ continue to be evaluated as Alzheimer's disease (AD) therapeutics, but there remains debate over the mechanisms by which…”
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High-throughput variation detection and genotyping using microarrays by Cutler, D J, Zwick, M E, Carrasquillo, M M, Yohn, C T, Tobin, K P, Kashuk, C, Mathews, D J, Shah, N A, Eichler, E E, Warrington, J A, Chakravarti, A

“…The genetic dissection of complex traits may ultimately require a large number of SNPs to be genotyped in multiple individuals who exhibit phenotypic variation…”
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Correction to: Deciphering cellular transcriptional alterations in Alzheimer's disease brains by Wang, Xue, Allen, Mariet, Li, Shaoyu, Quicksall, Zachary S, Patel, Tulsi A, Carnwath, Troy P, Reddy, Joseph S, Carrasquillo, Minerva M, Lincoln, Sarah J, Nguyen, Thuy T, Malphrus, Kimberly G, Dickson, Dennis W, Crook, Julia E, Asmann, Yan W, Ertekin-Taner, Nilüfer

“…An amendment to this paper has been published and can be accessed via the original article…”
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