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Early-onset Alzheimer's disease explained by polygenic risk of late-onset disease? Alzheimers Dement (Amst). 2023 Oct-Dec; 15(4):e12482.
Mantyh WG, Cochran JN, Taylor JW, Broce IJ, Geier EG, Bonham LW, Anderson AG, Sirkis DW, Joie R, Iaccarino L, Chaudhary K, Edwards L, Strom A, Grant H, Allen IE, Miller ZA, Gorno-Tempini ML, Kramer JH, Miller BL, Desikan RS, Rabinovici GD, Yokoyama JS. PMID: 37780862; PMCID: PMC10535074.
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1
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Single-cell RNA-seq reveals alterations in peripheral CX3CR1 and nonclassical monocytes in familial tauopathy. Genome Med. 2023 07 18; 15(1):53.
Sirkis DW, Warly Solsberg C, Johnson TP, Bonham LW, Sturm VE, Lee SE, Rankin KP, Rosen HJ, Boxer AL, Seeley WW, Miller BL, Geier EG, Yokoyama JS. PMID: 37464408; PMCID: PMC10354988.
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Radiogenomics of C9orf72 Expansion Carriers Reveals Global Transposable Element Derepression and Enables Prediction of Thalamic Atrophy and Clinical Impairment. J Neurosci. 2023 01 11; 43(2):333-345.
Bonham LW, Geier EG, Sirkis DW, Leong JK, Ramos EM, Wang Q, Karydas A, Lee SE, Sturm VE, Sawyer RP, Friedberg A, Ichida JK, Gitler AD, Sugrue L, Cordingley M, Bee W, Weber E, Kramer JH, Rankin KP, Rosen HJ, Boxer AL, Seeley WW, Ravits J, Miller BL, Yokoyama JS. PMID: 36446586; PMCID: PMC9838702.
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3 Fields:
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HumansCells
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TSC1 loss increases risk for tauopathy by inducing tau acetylation and preventing tau clearance via chaperone-mediated autophagy. Sci Adv. 2021 Nov 05; 7(45):eabg3897.
Alquezar C, Schoch KM, Geier EG, Ramos EM, Scrivo A, Li KH, Argouarch AR, Mlynarski EE, Dombroski B, DeTure M, Dickson DW, Yokoyama JS, Cuervo AM, Burlingame AL, Schellenberg GD, Miller TM, Miller BL, Kao AW. PMID: 34739309; PMCID: PMC8570595.
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15 Fields:
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Genetic pleiotropy and the shared pathological features of corticobasal degeneration and progressive supranuclear palsy: a case report and a review of the literature. Neurocase. 2021 04; 27(2):120-128.
Rini J, Asken B, Geier E, Rankin K, Kramer J, Boxer A, Miller B, Yokoyama J, Spina S. PMID: 33754963; PMCID: PMC8137543.
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2 Fields:
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Humans
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SVIP is a molecular determinant of lysosomal dynamic stability, neurodegeneration and lifespan. Nat Commun. 2021 01 21; 12(1):513.
Johnson AE, Orr BO, Fetter RD, Moughamian AJ, Primeaux LA, Geier EG, Yokoyama JS, Miller BL, Davis GW. PMID: 33479240; PMCID: PMC7820495.
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23 Fields:
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HumansAnimalsCells
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Non-coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases. Am J Hum Genet. 2020 05 07; 106(5):632-645.
Cochran JN, Geier EG, Bonham LW, Newberry JS, Amaral MD, Thompson ML, Lasseigne BN, Karydas AM, Roberson ED, Cooper GM, Rabinovici GD, Miller BL, Myers RM, Yokoyama JS, Alzheimer’s Disease Neuroimaging Initiative. PMID: 32330418; PMCID: PMC7212268.
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34 Fields:
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HumansAnimals
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Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles. Cold Spring Harb Mol Case Stud. 2019 12; 5(6).
Cochran JN, McKinley EC, Cochran M, Amaral MD, Moyers BA, Lasseigne BN, Gray DE, Lawlor JMJ, Prokop JW, Geier EG, Holt JM, Thompson ML, Newberry JS, Yokoyama JS, Worthey EA, Geldmacher DS, Love MN, Cooper GM, Myers RM, Roberson ED. PMID: 31836585; PMCID: PMC6913143.
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17 Fields:
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HumansCells
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Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia. Sci Rep. 2019 07 26; 9(1):10854.
Bonham LW, Steele NZR, Karch CM, Broce I, Geier EG, Wen NL, Momeni P, Hardy J, Miller ZA, Gorno-Tempini ML, Hess CP, Lewis P, Miller BL, Seeley WW, Manzoni C, Desikan RS, Baranzini SE, Ferrari R, Yokoyama JS, International FTD-Genomics Consortium (IFGC). PMID: 31350420; PMCID: PMC6659677.
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5 Fields:
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HumansCells
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LOSS-OF-FUNCTION CODING AND NON-CODING VARIANTS IN TET2 ARE ASSOCIATED WITH NEURODEGENERATIVE DISEASES. Alzheimer's & Dementia. 2019 Jul 1; 15(7):p620.
Cochran CJ, Geier GE, Acosta-Uribe AJ, Thompson TM, Amaral AM, Newberry NJ, Lawlor LJ, Lasseigne LB, Cochran CM, Bonham BL, Karydas KA, Roberson RE, Lopera LF, Kosik KK, Cooper CG, Rabinovici RG, Miller MB, Myers MR, Yokoyama YJ. .
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Genetic origin of a large family with a novel PSEN1 mutation (Ile416Thr). Alzheimers Dement. 2019 05; 15(5):709-719.
Ramirez Aguilar L, Acosta-Uribe J, Giraldo MM, Moreno S, Baena A, Alzate D, Cuastumal R, Aguillón D, Madrigal L, Saldarriaga A, Navarro A, Garcia GP, Aguirre-Acevedo DC, Geier EG, Cochran JN, Quiroz YT, Myers RM, Yokoyama JS, Kosik KS, Lopera F. PMID: 30745123; PMCID: PMC6511480.
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16 Fields:
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Humans
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Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD. Acta Neuropathol. 2019 06; 137(6):879-899.
Pottier C, Ren Y, Perkerson RB, Baker M, Jenkins GD, van Blitterswijk M, DeJesus-Hernandez M, van Rooij JGJ, Murray ME, Christopher E, McDonnell SK, Fogarty Z, Batzler A, Tian S, Vicente CT, Matchett B, Karydas AM, Hsiung GR, Seelaar H, Mol MO, Finger EC, Graff C, Öijerstedt L, Neumann M, Heutink P, Synofzik M, Wilke C, Prudlo J, Rizzu P, Simon-Sanchez J, Edbauer D, Roeber S, Diehl-Schmid J, Evers BM, King A, Mesulam MM, Weintraub S, Geula C, Bieniek KF, Petrucelli L, Ahern GL, Reiman EM, Woodruff BK, Caselli RJ, Huey ED, Farlow MR, Grafman J, Mead S, Grinberg LT, Spina S, Grossman M, Irwin DJ, Lee EB, Suh E, Snowden J, Mann D, Ertekin-Taner N, Uitti RJ, Wszolek ZK, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Hodges JR, Piguet O, Geier EG, Yokoyama JS, Rissman RA, Rogaeva E, Keith J, Zinman L, Tartaglia MC, Cairns NJ, Cruchaga C, Ghetti B, Kofler J, Lopez OL, Beach TG, Arzberger T, Herms J, Honig LS, Vonsattel JP, Halliday GM, Kwok JB, White CL, Gearing M, Glass J, Rollinson S, Pickering-Brown S, Rohrer JD, Trojanowski JQ, Van Deerlin V, Bigio EH, Troakes C, Al-Sarraj S, Asmann Y, Miller BL, Graff-Radford NR, Boeve BF, Seeley WW, Mackenzie IRA, van Swieten JC, Dickson DW, Biernacka JM, Rademakers R. PMID: 30739198; PMCID: PMC6533145.
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54 Fields:
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21
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Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia. Acta Neuropathol. 2019 01; 137(1):71-88.
Geier EG, Bourdenx M, Storm NJ, Cochran JN, Sirkis DW, Hwang JH, Bonham LW, Ramos EM, Diaz A, Van Berlo V, Dokuru D, Nana AL, Karydas A, Balestra ME, Huang Y, Russo SP, Spina S, Grinberg LT, Seeley WW, Myers RM, Miller BL, Coppola G, Lee SE, Cuervo AM, Yokoyama JS. PMID: 30382371; PMCID: PMC6371791.
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17 Fields:
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HumansCells
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Protein network analysis reveals selectively vulnerable regions and biological processes in FTD. Neurol Genet. 2018 Oct; 4(5):e266.
Bonham LW, Steele NZR, Karch CM, Manzoni C, Geier EG, Wen N, Ofori-Kuragu A, Momeni P, Hardy J, Miller ZA, Hess CP, Lewis P, Miller BL, Seeley WW, Baranzini SE, Desikan RS, Ferrari R, Yokoyama JS, International FTD-Genomics Consortium (IFGC). PMID: 30283816; PMCID: PMC6167176.
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7
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Genetic Variation in the Androgen Receptor and Measures of Plasma Testosterone Levels Suggest Androgen Dysfunction in Alzheimer's Disease. Front Neurosci. 2018; 12:529.
Carr JS, Bonham LW, Morgans AK, Ryan CJ, Yokoyama JS, Geier EG, Alzheimer’s Disease Neuroimaging Initiative. PMID: 30131669; PMCID: PMC6090298.
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3
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Insulin-Like Growth Factor Binding Protein 2 Is Associated With Biomarkers of Alzheimer's Disease Pathology and Shows Differential Expression in Transgenic Mice. Front Neurosci. 2018; 12:476.
Bonham LW, Geier EG, Steele NZR, Holland D, Miller BL, Dale AM, Desikan RS, Yokoyama JS, Alzheimer’s Disease Neuroimaging Initiative. PMID: 30061810; PMCID: PMC6055061.
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8
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ASSOCIATION OF ALZHEIMER’S DISEASE WITH ANDROGEN RECEPTOR VARIANTS AND PLASMA TESTOSTERONE LEVELS IMPLICATES DECREASED TESTOSTERONE SIGNALING IN NEURODEGENERATION. Alzheimer's & Dementia. 2018 Jul 1; 14(7):p714.
Carr CJ, Bonham BL, Ryan RC, Yokoyama YJ, Geier GE, Initiative IA. .
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STOP-GAIN VARIANT IN MICROGLIA-EXPRESSED GENE GMIP IS ASSOCIATED WITH EARLY-ONSET ALZHEIMER’S DISEASE. Alzheimer's & Dementia. 2018 Jul 1; 14(7):p1534-p1536.
Khan KR, Altmann AA, Napolioni NV, Kim KY, Guerreiro GR, Bras BJ, Carmona CS, Pereira PM, Santana SI, Hardy HJ, Mead MS, Cruchaga CC, Fernandez FM, Holstege HH, Van der Flier VW, Hulsman HM, Van der Lee VS, Chen CY, Bis BJ, Launer LL, van Duijn vC, Naj NA, Schellenberg SG, Coppola CG, Chen CJ, Seshadri SS, Cochran CJ, Myers MR, Geier GE, Yokoyama YJ, Rabinovici RG, Miller MB, Kramer KJ, Karydas KA, Brookes BK, Guetta-Baranes GT, Turton TJ, Chaudhury CR, Morgan MK, Han HS, Greicius GM, ADGC Aa. .
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CXCR4 involvement in neurodegenerative diseases. Transl Psychiatry. 2018 04 11; 8(1):73.
Bonham LW, Karch CM, Fan CC, Tan C, Geier EG, Wang Y, Wen N, Broce IJ, Li Y, Barkovich MJ, Ferrari R, Hardy J, Momeni P, Höglinger G, Müller U, Hess CP, Sugrue LP, Dillon WP, Schellenberg GD, Miller BL, Andreassen OA, Dale AM, Barkovich AJ, Yokoyama JS, Desikan RS, International FTD-Genomics Consortium (IFGC), International Parkinson’s Disease Genetics Consortium (IPDGC), International Genomics of Alzheimer’s Project (IGAP). PMID: 29636460; PMCID: PMC5893558.
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33 Fields:
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FINE-MAPPING OF THE HUMAN LEUKOCYTE ANTIGEN (HLA) LOCUS AS A RISK FACTOR FOR ALZHEIMER'S DISEASE. Alzheimer's & Dementia. 2017 Jul 1; 13(7):p652.
Carr CJ, Steele SN, Bonham BL, Geier GE, Damotte DV, Miller MZ, Desikan DR, Boehme BK, Mukherjee MS, Crane CP, Kauwe KJ, Kramer KJ, Miller MB, Coppola CG, Hollenbach HJ, Huang HY, Yokoyama YJ, ADNI A. .
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Fine-mapping of the human leukocyte antigen locus as a risk factor for Alzheimer disease: A case-control study. PLoS Med. 2017 Mar; 14(3):e1002272.
Steele NZ, Carr JS, Bonham LW, Geier EG, Damotte V, Miller ZA, Desikan RS, Boehme KL, Mukherjee S, Crane PK, Kauwe JS, Kramer JH, Miller BL, Coppola G, Hollenbach JA, Huang Y, Yokoyama JS. PMID: 28350795; PMCID: PMC5369701.
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36 Fields:
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Humans
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Expression and splicing of ABC and SLC transporters in the human blood-brain barrier measured with RNAseq. Eur J Pharm Sci. 2017 May 30; 103:47-51.
Suhy AM, Webb A, Papp AC, Geier EG, Sadee W. PMID: 28188910.
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16 Fields:
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HumansCells
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Rare TREM2 variants associated with Alzheimer's disease display reduced cell surface expression. Acta Neuropathol Commun. 2016 09 02; 4(1):98.
Sirkis DW, Bonham LW, Aparicio RE, Geier EG, Ramos EM, Wang Q, Karydas A, Miller ZA, Miller BL, Coppola G, Yokoyama JS. PMID: 27589997; PMCID: PMC5010724.
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22 Fields:
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Age-dependent effects of APOE ε4 in preclinical Alzheimer's disease. Ann Clin Transl Neurol. 2016 Sep; 3(9):668-77.
Bonham LW, Geier EG, Fan CC, Leong JK, Besser L, Kukull WA, Kornak J, Andreassen OA, Schellenberg GD, Rosen HJ, Dillon WP, Hess CP, Miller BL, Dale AM, Desikan RS, Yokoyama JS. PMID: 27648456; PMCID: PMC5018579.
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29 Fields:
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Targeted disruption of organic cation transporter 3 attenuates the pharmacologic response to metformin. Mol Pharmacol. 2015 Jul; 88(1):75-83.
Chen EC, Liang X, Yee SW, Geier EG, Stocker SL, Chen L, Giacomini KM. PMID: 25920679; PMCID: PMC4468641.
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54 Fields:
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HumansAnimalsCells
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Phase I Study of Vorinostat as a Radiation Sensitizer with 131I-Metaiodobenzylguanidine (131I-MIBG) for Patients with Relapsed or Refractory Neuroblastoma. Clin Cancer Res. 2015 Jun 15; 21(12):2715-21.
DuBois SG, Groshen S, Park JR, Haas-Kogan DA, Yang X, Geier E, Chen E, Giacomini K, Weiss B, Cohn SL, Granger MM, Yanik GA, Hawkins R, Courtier J, Jackson H, Goodarzian F, Shimada H, Czarnecki S, Tsao-Wei D, Villablanca JG, Marachelian A, Matthay KK. PMID: 25695691; PMCID: PMC4470833.
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35 Fields:
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HumansCellsCTClinical Trials
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Evaluation of organic anion transporting polypeptide 1B1 and 1B3 humanized mice as a translational model to study the pharmacokinetics of statins. Drug Metab Dispos. 2014 Aug; 42(8):1301-13.
Salphati L, Chu X, Chen L, Prasad B, Dallas S, Evers R, Mamaril-Fishman D, Geier EG, Kehler J, Kunta J, Mezler M, Laplanche L, Pang J, Rode A, Soars MG, Unadkat JD, van Waterschoot RA, Yabut J, Schinkel AH, Scheer N. PMID: 24855184.
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6 Fields:
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HumansAnimalsCells
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Conservation of apolipoprotein A-I's central domain structural elements upon lipid association on different high-density lipoprotein subclasses. Biochemistry. 2013 Oct 01; 52(39):6766-78.
Oda MN, Budamagunta MS, Geier EG, Chandradas SH, Shao B, Heinecke JW, Voss JC, Cavigiolio G. PMID: 23984834; PMCID: PMC3835726.
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2 Fields:
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HumansCells
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Profiling solute carrier transporters in the human blood-brain barrier. Clin Pharmacol Ther. 2013 Dec; 94(6):636-9.
Geier EG, Chen EC, Webb A, Papp AC, Yee SW, Sadee W, Giacomini KM. PMID: 24013810; PMCID: PMC3906042.
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59 Fields:
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Humans
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Structure-based ligand discovery for the Large-neutral Amino Acid Transporter 1, LAT-1. Proc Natl Acad Sci U S A. 2013 Apr 02; 110(14):5480-5.
Geier EG, Schlessinger A, Fan H, Gable JE, Irwin JJ, Sali A, Giacomini KM. PMID: 23509259; PMCID: PMC3619328.
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87 Fields:
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Gene expression profiling of transporters in the solute carrier and ATP-binding cassette superfamilies in human eye substructures. Mol Pharm. 2013 Feb 04; 10(2):650-63.
Dahlin A, Geier E, Stocker SL, Cropp CD, Grigorenko E, Bloomer M, Siegenthaler J, Xu L, Basile AS, Tang-Liu DD, Giacomini KM. PMID: 23268600; PMCID: PMC4032224.
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20 Fields:
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Humans
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Evaluation of Norepinephrine Transporter Expression and Metaiodobenzylguanidine Avidity in Neuroblastoma: A Report from the Children's Oncology Group. Int J Mol Imaging. 2012; 2012:250834.
Dubois SG, Geier E, Batra V, Yee SW, Neuhaus J, Segal M, Martinez D, Pawel B, Yanik G, Naranjo A, London WB, Kreissman S, Baker D, Attiyeh E, Hogarty MD, Maris JM, Giacomini K, Matthay KK. PMID: 23050139; PMCID: PMC3463166.
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32
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Structure-based discovery of prescription drugs that interact with the norepinephrine transporter, NET. Proc Natl Acad Sci U S A. 2011 Sep 20; 108(38):15810-5.
Schlessinger A, Geier E, Fan H, Irwin JJ, Shoichet BK, Giacomini KM, Sali A. PMID: 21885739; PMCID: PMC3179104.
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PubMed Mentions:
66 Fields:
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HumansCells
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Vorinostat increases expression of functional norepinephrine transporter in neuroblastoma in vitro and in vivo model systems. Clin Cancer Res. 2011 Apr 15; 17(8):2339-49.
More SS, Itsara M, Yang X, Geier EG, Tadano MK, Seo Y, Vanbrocklin HF, Weiss WA, Mueller S, Haas-Kogan DA, Dubois SG, Matthay KK, Giacomini KM. PMID: 21421857; PMCID: PMC3247296.
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32 Fields:
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HumansAnimalsCells
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Role of the copper transporter, CTR1, in platinum-induced ototoxicity. J Neurosci. 2010 Jul 14; 30(28):9500-9.
More SS, Akil O, Ianculescu AG, Geier EG, Lustig LR, Giacomini KM. PMID: 20631178; PMCID: PMC2949060.
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PubMed Mentions:
72 Fields:
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HumansAnimalsCells
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Exchange of apolipoprotein A-I between lipid-associated and lipid-free states: a potential target for oxidative generation of dysfunctional high density lipoproteins. J Biol Chem. 2010 Jun 11; 285(24):18847-57.
Cavigiolio G, Geier EG, Shao B, Heinecke JW, Oda MN. PMID: 20385548; PMCID: PMC2881807.
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46 Fields:
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Humans
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Real-Time Detection of Apolipoprotein A-I's Lipidation State by Fluorescence Resonance Energy Transfer. Biophysical Journal. 2010 Jan 1; 98(3):88a-89a.
Cavigiolio CG, Geier GE, Oda OM. .
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The interplay between size, morphology, stability, and functionality of high-density lipoprotein subclasses. Biochemistry. 2008 Apr 22; 47(16):4770-9.
Cavigiolio G, Shao B, Geier EG, Ren G, Heinecke JW, Oda MN. PMID: 18366184; PMCID: PMC2902722.
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PubMed Mentions:
51 Fields:
Translation:
Humans