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Items: 21

1.

Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia.

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).

Sci Rep. 2019 Jul 26;9(1):10854. doi: 10.1038/s41598-019-46415-1.

2.

Genetic origin of a large family with a novel PSEN1 mutation (Ile416Thr).

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.

Alzheimers Dement. 2019 May;15(5):709-719. doi: 10.1016/j.jalz.2018.12.010. Epub 2019 Feb 10.

PMID:
30745123
3.

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.

Pottier C, Ren Y, Perkerson RB 3rd, 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 3rd, 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.

Acta Neuropathol. 2019 Jun;137(6):879-899. doi: 10.1007/s00401-019-01962-9. Epub 2019 Feb 9.

PMID:
30739198
4.

Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia.

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.

Acta Neuropathol. 2019 Jan;137(1):71-88. doi: 10.1007/s00401-018-1925-9. Epub 2018 Oct 31.

PMID:
30382371
5.

Protein network analysis reveals selectively vulnerable regions and biological processes in FTD.

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).

Neurol Genet. 2018 Oct 1;4(5):e266. doi: 10.1212/NXG.0000000000000266. eCollection 2018 Oct.

6.

Genetic Variation in the Androgen Receptor and Measures of Plasma Testosterone Levels Suggest Androgen Dysfunction in Alzheimer's Disease.

Carr JS, Bonham LW, Morgans AK, Ryan CJ, Yokoyama JS, Geier EG; Alzheimer’s Disease Neuroimaging Initiative.

Front Neurosci. 2018 Aug 7;12:529. doi: 10.3389/fnins.2018.00529. eCollection 2018.

7.

Insulin-Like Growth Factor Binding Protein 2 Is Associated With Biomarkers of Alzheimer's Disease Pathology and Shows Differential Expression in Transgenic Mice.

Bonham LW, Geier EG, Steele NZR, Holland D, Miller BL, Dale AM, Desikan RS, Yokoyama JS; Alzheimer’s Disease Neuroimaging Initiative.

Front Neurosci. 2018 Jul 16;12:476. doi: 10.3389/fnins.2018.00476. eCollection 2018.

8.

CXCR4 involvement in neurodegenerative diseases.

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).

Transl Psychiatry. 2018 Apr 11;8(1):73. doi: 10.1038/s41398-017-0049-7.

9.

Fine-mapping of the human leukocyte antigen locus as a risk factor for Alzheimer disease: A case-control study.

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.

PLoS Med. 2017 Mar 28;14(3):e1002272. doi: 10.1371/journal.pmed.1002272. eCollection 2017 Mar.

10.

Expression and splicing of ABC and SLC transporters in the human blood-brain barrier measured with RNAseq.

Suhy AM, Webb A, Papp AC, Geier EG, Sadee W.

Eur J Pharm Sci. 2017 May 30;103:47-51. doi: 10.1016/j.ejps.2017.02.010. Epub 2017 Feb 7.

PMID:
28188910
11.

Age-dependent effects of APOE ε4 in preclinical Alzheimer's disease.

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.

Ann Clin Transl Neurol. 2016 Aug 26;3(9):668-77. doi: 10.1002/acn3.333. eCollection 2016 Sep.

12.

Rare TREM2 variants associated with Alzheimer's disease display reduced cell surface expression.

Sirkis DW, Bonham LW, Aparicio RE, Geier EG, Ramos EM, Wang Q, Karydas A, Miller ZA, Miller BL, Coppola G, Yokoyama JS.

Acta Neuropathol Commun. 2016 Sep 2;4(1):98. doi: 10.1186/s40478-016-0367-7.

13.

Targeted disruption of organic cation transporter 3 attenuates the pharmacologic response to metformin.

Chen EC, Liang X, Yee SW, Geier EG, Stocker SL, Chen L, Giacomini KM.

Mol Pharmacol. 2015 Jul;88(1):75-83. doi: 10.1124/mol.114.096776. Epub 2015 Apr 28.

14.

Evaluation of organic anion transporting polypeptide 1B1 and 1B3 humanized mice as a translational model to study the pharmacokinetics of statins.

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.

Drug Metab Dispos. 2014 Aug;42(8):1301-13. doi: 10.1124/dmd.114.057976. Epub 2014 May 22.

PMID:
24855184
15.

Profiling solute carrier transporters in the human blood-brain barrier.

Geier EG, Chen EC, Webb A, Papp AC, Yee SW, Sadee W, Giacomini KM.

Clin Pharmacol Ther. 2013 Dec;94(6):636-9. doi: 10.1038/clpt.2013.175. Epub 2013 Sep 5.

16.

Conservation of apolipoprotein A-I's central domain structural elements upon lipid association on different high-density lipoprotein subclasses.

Oda MN, Budamagunta MS, Geier EG, Chandradas SH, Shao B, Heinecke JW, Voss JC, Cavigiolio G.

Biochemistry. 2013 Oct 1;52(39):6766-78. doi: 10.1021/bi4007012. Epub 2013 Sep 17.

17.

Structure-based ligand discovery for the Large-neutral Amino Acid Transporter 1, LAT-1.

Geier EG, Schlessinger A, Fan H, Gable JE, Irwin JJ, Sali A, Giacomini KM.

Proc Natl Acad Sci U S A. 2013 Apr 2;110(14):5480-5. doi: 10.1073/pnas.1218165110. Epub 2013 Mar 18.

18.

Vorinostat increases expression of functional norepinephrine transporter in neuroblastoma in vitro and in vivo model systems.

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.

Clin Cancer Res. 2011 Apr 15;17(8):2339-49. doi: 10.1158/1078-0432.CCR-10-2949. Epub 2011 Mar 18.

19.

Role of the copper transporter, CTR1, in platinum-induced ototoxicity.

More SS, Akil O, Ianculescu AG, Geier EG, Lustig LR, Giacomini KM.

J Neurosci. 2010 Jul 14;30(28):9500-9. doi: 10.1523/JNEUROSCI.1544-10.2010.

20.

Exchange of apolipoprotein A-I between lipid-associated and lipid-free states: a potential target for oxidative generation of dysfunctional high density lipoproteins.

Cavigiolio G, Geier EG, Shao B, Heinecke JW, Oda MN.

J Biol Chem. 2010 Jun 11;285(24):18847-57. doi: 10.1074/jbc.M109.098434. Epub 2010 Apr 12.

21.

The interplay between size, morphology, stability, and functionality of high-density lipoprotein subclasses.

Cavigiolio G, Shao B, Geier EG, Ren G, Heinecke JW, Oda MN.

Biochemistry. 2008 Apr 22;47(16):4770-9. doi: 10.1021/bi7023354. Epub 2008 Mar 27.

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