Publications:

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Cross-β helical filaments of Tau and TMEM106B in gray and white matter of multiple system tauopathy with presenile dementia.

Acta Neuropathologica

Hoq, Md Rejaul MR; Bharath, Sakshibeedu R SR; Hallinan, Grace I GI; Fernandez, Anllely A; Vago, Frank S FS; Ozcan, Kadir A KA; Li, Daoyi D; Garringer, Holly J HJ; Vidal, Ruben R; Ghetti, Bernardino B; Jiang, Wen W

Publication Date: 2023-03-23

Variant appearance in text: rs3173615

PubMed Link: 36952000

Variant Present in the following documents:

• 401_2023_2563_MOESM1_ESM.pdf

View BVdb publication page

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Inflammation and neuronal gene expression changes differ in early versus late chronic traumatic encephalopathy brain.

Bmc Medical Genomics

Labadorf, Adam A; Agus, Filisia F; Aytan, Nurgul N; Cherry, Jonathan J; Mez, Jesse J; McKee, Ann A; Stein, Thor D TD

Publication Date: 2023-03-09

Variant appearance in text: rs3173615

PubMed Link: 36895005

Variant Present in the following documents:

• Main text
• 12920_2023_Article_1471.pdf

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs3173615

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Concurrent tau pathologies in frontotemporal lobar degeneration with TDP-43 pathology.

Neuropathology And Applied Neurobiology

Koga, Shunsuke S; Zhou, Xiaolai X; Murakami, Aya A; Fernandez De Castro, Cristhoper C; Baker, Matthew C MC; Rademakers, Rosa R; Dickson, Dennis W DW

Publication Date: 2022-02

Variant appearance in text: rs3173615

PubMed Link: 34823271

Variant Present in the following documents:

• Main text
• NAN-48-0.pdf

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs3173615

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Neuroticism alters the transcriptome of the frontal cortex to contribute to the cognitive decline and onset of Alzheimer's disease.

Translational Psychiatry

De Jager, Céline H CH; White, Charles C CC; Bennett, David A DA; Ma, Yiyi Y

Publication Date: 2021-02-24

Variant appearance in text: rs3173615

PubMed Link: 33627625

Variant Present in the following documents:

• Main text
• 41398_2021_Article_1253.pdf

View BVdb publication page

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rs1990622 variant associates with Alzheimer's disease and regulates TMEM106B expression in human brain tissues.

Bmc Medicine

Hu, Yang Y; Sun, Jing-Yi JY; Zhang, Yan Y; Zhang, Haihua H; Gao, Shan S; Wang, Tao T; Han, Zhifa Z; Wang, Longcai L; Sun, Bao-Liang BL; Liu, Guiyou G

Publication Date: 2021-01-19

Variant appearance in text: rs3173615

PubMed Link: 33461566

Variant Present in the following documents:

• Main text
• 12916_2020_Article_1883.pdf

View BVdb publication page

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A novel temporal-predominant neuro-astroglial tauopathy associated with TMEM106B gene polymorphism in FTLD/ALS-TDP.

Brain Pathology (Zurich, Switzerland)

Llibre-Guerra, Jorge J JJ; Lee, Suzee E SE; Suemoto, Claudia K CK; Ehrenberg, Alexander J AJ; Kovacs, Gabor G GG; Karydas, Anna A; Staffaroni, Adam A; Franca Resende, Elisa De Paula EP; Kim, Eun-Joo EJ; Hwang, Ji-Hye JH; Ramos, Eliana Marisa EM; Wojta, Kevin J KJ; Pasquini, Lorenzo L; Pang, Shirley Yin-Yu SY; Spina, Salvatore S; Allen, Isabel E IE; Kramer, Joel J; Miller, Bruce L BL; Seeley, William W WW; Grinberg, Lea T LT

Publication Date: 2021-03

Variant appearance in text: rs3173615

PubMed Link: 33314436

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetics of Gene Expression in the Aging Human Brain Reveal TDP-43 Proteinopathy Pathophysiology.

Neuron

Yang, Hyun-Sik HS; White, Charles C CC; Klein, Hans-Ulrich HU; Yu, Lei L; Gaiteri, Christopher C; Ma, Yiyi Y; Felsky, Daniel D; Mostafavi, Sara S; Petyuk, Vladislav A VA; Sperling, Reisa A RA; Ertekin-Taner, Nilüfer N; Schneider, Julie A JA; Bennett, David A DA; De Jager, Philip L PL

Publication Date: 2020-08-05

Variant appearance in text: rs3173615

PubMed Link: 32526197

Variant Present in the following documents:

• Main text

View BVdb publication page

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From basic research to the clinic: innovative therapies for ALS and FTD in the pipeline.

Molecular Neurodegeneration

Liscic, Rajka Maria RM; Alberici, Antonella A; Cairns, Nigel John NJ; Romano, Maurizio M; Buratti, Emanuele E

Publication Date: 2020-06-01

Variant appearance in text: rs3173615

PubMed Link: 32487123

Variant Present in the following documents:

• Main text
• 13024_2020_Article_373.pdf

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs3173615

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Early-onset Alzheimer's disease patient with prion (PRNP) p.Val180Ile mutation.

Neuropsychiatric Disease And Treatment

Bagyinszky, Eva E; Kang, Min Ju MJ; Pyun, Jungmin J; Giau, Vo Van VV; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2019

Variant appearance in text: rs3173615

PubMed Link: 31410005

Variant Present in the following documents:

• Main text

View BVdb publication page

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TMEM106B Effect on cognition in Parkinson disease and frontotemporal dementia.

Annals Of Neurology

Tropea, Thomas F TF; Mak, Jordan J; Guo, Michael H MH; Xie, Sharon X SX; Suh, Eunran E; Rick, Jacqueline J; Siderowf, Andrew A; Weintraub, Daniel D; Grossman, Murray M; Irwin, David D; Wolk, David A DA; Trojanowski, John Q JQ; Van Deerlin, Vivianna V; Chen-Plotkin, Alice S AS

Publication Date: 2019-06

Variant appearance in text: rs3173615

PubMed Link: 30973966

Variant Present in the following documents:

• Main text

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs3173615

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Corticobasal degeneration with TDP-43 pathology presenting with progressive supranuclear palsy syndrome: a distinct clinicopathologic subtype.

Acta Neuropathologica

Koga, Shunsuke S; Kouri, Naomi N; Walton, Ronald L RL; Ebbert, Mark T W MTW; Josephs, Keith A KA; Litvan, Irene I; Graff-Radford, Neill N; Ahlskog, J Eric JE; Uitti, Ryan J RJ; van Gerpen, Jay A JA; Boeve, Bradley F BF; Parks, Adam A; Ross, Owen A OA; Dickson, Dennis W DW

Publication Date: 2018-09

Variant appearance in text: rs3173615

PubMed Link: 29926172

Variant Present in the following documents:

• Main text

View BVdb publication page

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TDP-43 pathology in multiple system atrophy: colocalization of TDP-43 and α-synuclein in glial cytoplasmic inclusions.

Neuropathology And Applied Neurobiology

Koga, S S; Lin, W-L WL; Walton, R L RL; Ross, O A OA; Dickson, D W DW

Publication Date: 2018-12

Variant appearance in text: rs3173615

PubMed Link: 29660838

Variant Present in the following documents:

• Main text

View BVdb publication page

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Discovery of coding regions in the human genome by integrated proteogenomics analysis workflow.

Nature Communications

Zhu, Yafeng Y; Orre, Lukas M LM; Johansson, Henrik J HJ; Huss, Mikael M; Boekel, Jorrit J; Vesterlund, Mattias M; Fernandez-Woodbridge, Alejandro A; Branca, Rui M M RMM; Lehtiö, Janne J

Publication Date: 2018-03-02

Variant appearance in text: rs3173615

PubMed Link: 29500430

Variant Present in the following documents:

• 41467_2018_3311_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Unaffected mosaic C9orf72 case: RNA foci, dipeptide proteins, but upregulated C9orf72 expression.

Neurology

McGoldrick, Philip P; Zhang, Ming M; van Blitterswijk, Marka M; Sato, Christine C; Moreno, Danielle D; Xiao, Shangxi S; Zhang, Ashley B AB; McKeever, Paul M PM; Weichert, Anna A; Schneider, Raphael R; Keith, Julia J; Petrucelli, Leonard L; Rademakers, Rosa R; Zinman, Lorne L; Robertson, Janice J; Rogaeva, Ekaterina E

Publication Date: 2018-01-23

Variant appearance in text: rs3173615

PubMed Link: 29282338

Variant Present in the following documents:

• Main text
• NEUROLOGY2017832758.pdf

View BVdb publication page

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A Dementia-Associated Risk Variant near TMEM106B Alters Chromatin Architecture and Gene Expression.

American Journal Of Human Genetics

Gallagher, Michael D MD; Posavi, Marijan M; Huang, Peng P; Unger, Travis L TL; Berlyand, Yosef Y; Gruenewald, Analise L AL; Chesi, Alessandra A; Manduchi, Elisabetta E; Wells, Andrew D AD; Grant, Struan F A SFA; Blobel, Gerd A GA; Brown, Christopher D CD; Chen-Plotkin, Alice S AS

Publication Date: 2017-11-02

Variant appearance in text: rs3173615

PubMed Link: 29056226

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs3173615

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Identification of genes associated with dissociation of cognitive performance and neuropathological burden: Multistep analysis of genetic, epigenetic, and transcriptional data.

Plos Medicine

White, Charles C CC; Yang, Hyun-Sik HS; Yu, Lei L; Chibnik, Lori B LB; Dawe, Robert J RJ; Yang, Jingyun J; Klein, Hans-Ulrich HU; Felsky, Daniel D; Ramos-Miguel, Alfredo A; Arfanakis, Konstantinos K; Honer, William G WG; Sperling, Reisa A RA; Schneider, Julie A JA; Bennett, David A DA; De Jager, Philip L PL

Publication Date: 2017-04

Variant appearance in text: rs3173615

PubMed Link: 28441426

Variant Present in the following documents:

• Main text

View BVdb publication page

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DNA methylation age-acceleration is associated with disease duration and age at onset in C9orf72 patients.

Acta Neuropathologica

Zhang, Ming M; Tartaglia, Maria Carmela MC; Moreno, Danielle D; Sato, Christine C; McKeever, Paul P; Weichert, Anna A; Keith, Julia J; Robertson, Janice J; Zinman, Lorne L; Rogaeva, Ekaterina E

Publication Date: 2017-08

Variant appearance in text: rs3173615

PubMed Link: 28439722

Variant Present in the following documents:

• Main text
• 401_2017_Article_1713.pdf

View BVdb publication page

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Gene-based association study of genes linked to hippocampal sclerosis of aging neuropathology: GRN, TMEM106B, ABCC9, and KCNMB2.

Neurobiology Of Aging

Katsumata, Yuriko Y; Nelson, Peter T PT; Ellingson, Sally R SR; Fardo, David W DW

Publication Date: 2017-05

Variant appearance in text: rs3173615

PubMed Link: 28131462

Variant Present in the following documents:

• Main text

View BVdb publication page

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Distribution and characteristics of transactive response DNA binding protein 43 kDa pathology in progressive supranuclear palsy.

Movement Disorders : Official Journal Of The Movement Disorder Society

Koga, Shunsuke S; Sanchez-Contreras, Monica M; Josephs, Keith A KA; Uitti, Ryan J RJ; Graff-Radford, Neill N; van Gerpen, Jay A JA; Cheshire, William P WP; Wszolek, Zbigniew K ZK; Rademakers, Rosa R; Dickson, Dennis W DW

Publication Date: 2017-02

Variant appearance in text: rs3173615

PubMed Link: 28009087

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Novel Splice-Acceptor Site Mutation in GRN (c.709-2 A>T) Causes Frontotemporal Dementia Spectrum in a Large Family from Southern Italy.

Journal Of Alzheimer'S Disease : Jad

Sassi, Celeste C; Capozzo, Rosa R; Gibbs, Raphael R; Crews, Cynthia C; Zecca, Chiara C; Arcuti, Simona S; Copetti, Massimiliano M; Barulli, Maria R MR; Brescia, Vincenzo V; Singleton, Andrew B AB; Logroscino, Giancarlo G

Publication Date: 2016-05-30

Variant appearance in text: rs3173615

PubMed Link: 27258413

Variant Present in the following documents:

• Main text

View BVdb publication page

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To Dement or Not to Dement, That Is the Question.

Jama Neurology

Traynor, Bryan J BJ; Abramzon, Yevgeniya A YA

Publication Date: 2016-04

Variant appearance in text: rs3173615

PubMed Link: 26903123

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs3173615

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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TMEM106B, a frontotemporal lobar dementia (FTLD) modifier, associates with FTD-3-linked CHMP2B, a complex of ESCRT-III.

Molecular Brain

Jun, Mi-Hee MH; Han, Jeong-Ho JH; Lee, Yu-Kyung YK; Jang, Deok-Jin DJ; Kaang, Bong-Kiun BK; Lee, Jin-A JA

Publication Date: 2015-12-10

Variant appearance in text: rs3173615

PubMed Link: 26651479

Variant Present in the following documents:

• Main text
• 13041_2015_Article_177.pdf

View BVdb publication page

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Chronic traumatic encephalopathy pathology in a neurodegenerative disorders brain bank.

Acta Neuropathologica

Bieniek, Kevin F KF; Ross, Owen A OA; Cormier, Kerry A KA; Walton, Ronald L RL; Soto-Ortolaza, Alexandra A; Johnston, Amelia E AE; DeSaro, Pamela P; Boylan, Kevin B KB; Graff-Radford, Neill R NR; Wszolek, Zbigniew K ZK; Rademakers, Rosa R; Boeve, Bradley F BF; McKee, Ann C AC; Dickson, Dennis W DW

Publication Date: 2015-12

Variant appearance in text: rs3173615

PubMed Link: 26518018

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: rs3173615

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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TMEM106B expression is reduced in Alzheimer's disease brains.

Alzheimer'S Research & Therapy

Satoh, Jun-Ichi J; Kino, Yoshihiro Y; Kawana, Natsuki N; Yamamoto, Yoji Y; Ishida, Tsuyoshi T; Saito, Yuko Y; Arima, Kunimasa K

Publication Date: 2014

Variant appearance in text: rs3173615

PubMed Link: 24684749

Variant Present in the following documents:

• Main text
• alzrt247.pdf

View BVdb publication page

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Genetic and neuroanatomic associations in sporadic frontotemporal lobar degeneration.

Neurobiology Of Aging

McMillan, Corey T CT; Toledo, Jon B JB; Avants, Brian B BB; Cook, Philip A PA; Wood, Elisabeth M EM; Suh, Eunran E; Irwin, David J DJ; Powers, John J; Olm, Christopher C; Elman, Lauren L; McCluskey, Leo L; Schellenberg, Gerard D GD; Lee, Virginia M-Y VM; Trojanowski, John Q JQ; Van Deerlin, Vivianna M VM; Grossman, Murray M

Publication Date: 2014-06

Variant appearance in text: rs3173615

PubMed Link: 24373676

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs3173615

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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