Publications:

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Case report: TMEM106B haplotype alters penetrance of GRN mutation in frontotemporal dementia family.

Frontiers In Neurology

Perneel, Jolien J; Manoochehri, Masood M; Huey, Edward D ED; Rademakers, Rosa R; Goldman, Jill J

Publication Date: 2023

Variant appearance in text: TMEM106B: 554C>G; T185S; rs3173615

PubMed Link: 37077569

Variant Present in the following documents:

• Main text
• fneur-14-1160248.pdf

View BVdb publication page

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: TMEM106B: T185S

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3

View BVdb publication page

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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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The major TMEM106B dementia risk allele affects TMEM106B protein levels and myelin lipid homeostasis in the ageing human hippocampus.

Research Square

Lee, Jun Yup JY; Harney, Dylan D; Kwok, John J; Larance, Mark M; Don, Anthony Simon AS

Publication Date: 2023-01-17

Variant appearance in text: TMEM106B: T185S; rs3173615

PubMed Link: 36711721

Variant Present in the following documents:

• nihpp-rs2392941v1.pdf

View BVdb publication page

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Lack of a protective effect of the Tmem106b "protective SNP" in the Grn knockout mouse model for frontotemporal lobar degeneration.

Acta Neuropathologica Communications

Cabron, Anne-Sophie AS; Borgmeyer, Uwe U; Richter, Julia J; Peisker, Helga H; Gutbrod, Katharina K; Dörmann, Peter P; Capell, Anja A; Damme, Markus M

Publication Date: 2023-01-27

Variant appearance in text: TMEM106B: T185S; rs3173615

PubMed Link: 36707901

Variant Present in the following documents:

• Main text
• 40478_2023_Article_1510.pdf

View BVdb publication page

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: TMEM106B: T185S; rs3173615

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Loss of TMEM106B exacerbates C9ALS/FTD DPR pathology by disrupting autophagosome maturation.

Frontiers In Cellular Neuroscience

Bauer, Claudia S CS; Webster, Christopher P CP; Shaw, Allan C AC; Kok, Jannigje R JR; Castelli, Lydia M LM; Lin, Ya-Hui YH; Smith, Emma F EF; Illanes-Álvarez, Francisco F; Higginbottom, Adrian A; Shaw, Pamela J PJ; Azzouz, Mimoun M; Ferraiuolo, Laura L; Hautbergue, Guillaume M GM; Grierson, Andrew J AJ; De Vos, Kurt J KJ

Publication Date: 2022

Variant appearance in text: TMEM106B: T185S; rs3173615

PubMed Link: 36619668

Variant Present in the following documents:

• Main text
• fncel-16-1061559.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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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: TMEM106B: 554C>G; Thr185Ser; rs3173615

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: TMEM106B: T185S

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: TMEM106B: T185S

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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TMEM106B Acts as a Modifier of Cognitive and Motor Functions in Amyotrophic Lateral Sclerosis.

International Journal Of Molecular Sciences

Manini, Arianna A; Ratti, Antonia A; Brusati, Alberto A; Maranzano, Alessio A; Fogh, Isabella I; Peverelli, Silvia S; Messina, Stefano S; Gentilini, Davide D; Verde, Federico F; Poletti, Barbara B; Morelli, Claudia C; Silani, Vincenzo V; Ticozzi, Nicola N

Publication Date: 2022-08-17

Variant appearance in text: TMEM106B: T185S; rs3173615

PubMed Link: 36012536

Variant Present in the following documents:

• Main text
• ijms-23-09276.pdf

View BVdb publication page

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A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.

Cell Death & Disease

Peng, Lin L; Zhao, Min M; Liu, Tianqi T; Chen, Jiangbo J; Gao, Pin P; Chen, Lei L; Xing, Pu P; Wang, Zaozao Z; Di, Jiabo J; Xu, Qiang Q; Qu, Hong H; Jiang, Beihai B; Su, Xiangqian X

Publication Date: 2022-04-22

Variant appearance in text: TMEM106B: T185S

PubMed Link: 35459861

Variant Present in the following documents:

• 41419_2022_4844_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Age-dependent formation of TMEM106B amyloid filaments in human brains.

Nature

Schweighauser, Manuel M; Arseni, Diana D; Bacioglu, Mehtap M; Huang, Melissa M; Lövestam, Sofia S; Shi, Yang Y; Yang, Yang Y; Zhang, Wenjuan W; Kotecha, Abhay A; Garringer, Holly J HJ; Vidal, Ruben R; Hallinan, Grace I GI; Newell, Kathy L KL; Tarutani, Airi A; Murayama, Shigeo S; Miyazaki, Masayuki M; Saito, Yuko Y; Yoshida, Mari M; Hasegawa, Kazuko K; Lashley, Tammaryn T; Revesz, Tamas T; Kovacs, Gabor G GG; van Swieten, John J; Takao, Masaki M; Hasegawa, Masato M; Ghetti, Bernardino B; Spillantini, Maria Grazia MG; Ryskeldi-Falcon, Benjamin B; Murzin, Alexey G AG; Goedert, Michel M; Scheres, Sjors H W SHW

Publication Date: 2022-05

Variant appearance in text: TMEM106B: T185S; rs3173615

PubMed Link: 35344985

Variant Present in the following documents:

• Main text
• 41586_2022_Article_4650.pdf
• 41586_2022_4650_MOESM3_ESM.pdf

View BVdb publication page

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: TMEM106B: T185S

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.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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A molecular pathology, neurobiology, biochemical, genetic and neuroimaging study of progressive apraxia of speech.

Nature Communications

Josephs, Keith A KA; Duffy, Joseph R JR; Clark, Heather M HM; Utianski, Rene L RL; Strand, Edythe A EA; Machulda, Mary M MM; Botha, Hugo H; Martin, Peter R PR; Pham, Nha Trang Thu NTT; Stierwalt, Julie J; Ali, Farwa F; Buciuc, Marina M; Baker, Matthew M; Fernandez De Castro, Cristhoper H CH; Spychalla, Anthony J AJ; Schwarz, Christopher G CG; Reid, Robert I RI; Senjem, Matthew L ML; Jack, Clifford R CR; Lowe, Val J VJ; Bigio, Eileen H EH; Reichard, Ross R RR; Polley, Eric J EJ; Ertekin-Taner, Nilufer N; Rademakers, Rosa R; DeTure, Michael A MA; Ross, Owen A OA; Dickson, Dennis W DW; Whitwell, Jennifer L JL

Publication Date: 2021-06-08

Variant appearance in text: TMEM106B: T185S; rs3173615

PubMed Link: 34103532

Variant Present in the following documents:

• Main text
• 41467_2021_Article_23687.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: TMEM106B: 554C>G; T185S; rs3173615

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Protective genes and pathways in Alzheimer's disease: moving towards precision interventions.

Molecular Neurodegeneration

Seto, Mabel M; Weiner, Rebecca L RL; Dumitrescu, Logan L; Hohman, Timothy J TJ

Publication Date: 2021-04-29

Variant appearance in text: TMEM106B: T185S; rs3173615

PubMed Link: 33926499

Variant Present in the following documents:

• Main text

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: TMEM106B: Thr185Ser; rs3173615

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: TMEM106B: 554C>G; T185S; rs3173615

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 2
• pone.0249324.s003.xlsx, sheet 1

View BVdb publication page

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Cryo-EM structures of tau filaments from Alzheimer's disease with PET ligand APN-1607.

Acta Neuropathologica

Shi, Yang Y; Murzin, Alexey G AG; Falcon, Benjamin B; Epstein, Alexander A; Machin, Jonathan J; Tempest, Paul P; Newell, Kathy L KL; Vidal, Ruben R; Garringer, Holly J HJ; Sahara, Naruhiko N; Higuchi, Makoto M; Ghetti, Bernardino B; Jang, Ming-Kuei MK; Scheres, Sjors H W SHW; Goedert, Michel M

Publication Date: 2021-05

Variant appearance in text: TMEM106B: T185S

PubMed Link: 33723967

Variant Present in the following documents:

• Main text
• 401_2021_Article_2294.pdf

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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Lysosomal Dysfunction and Other Pathomechanisms in FTLD: Evidence from Progranulin Genetics and Biology.

Advances In Experimental Medicine And Biology

Zhou, Xiaolai X; Kukar, Thomas T; Rademakers, Rosa R

Publication Date: 2021

Variant appearance in text: TMEM106B: T185S

PubMed Link: 33433878

Variant Present in the following documents:

• Main text

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: TMEM106B: T185S; rs3173615

PubMed Link: 33314436

Variant Present in the following documents:

• Main text
• BPA-31-267.pdf

View BVdb publication page

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Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell

Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,

Publication Date: 2020-11-25

Variant appearance in text: TMEM106B: T185S

PubMed Link: 33212010

Variant Present in the following documents:

• NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: TMEM106B: T185S; rs3173615

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

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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Loss of TMEM106B leads to myelination deficits: implications for frontotemporal dementia treatment strategies.

Brain : A Journal Of Neurology

Zhou, Xiaolai X; Nicholson, Alexandra M AM; Ren, Yingxue Y; Brooks, Mieu M; Jiang, Peizhou P; Zuberi, Aamir A; Phuoc, Hung Nguyen HN; Perkerson, Ralph B RB; Matchett, Billie B; Parsons, Tammee M TM; Finch, NiCole A NA; Lin, Wenlang W; Qiao, Wenhui W; Castanedes-Casey, Monica M; Phillips, Virginia V; Librero, Ariston L AL; Asmann, Yan Y; Bu, Guojun G; Murray, Melissa E ME; Lutz, Cathleen C; Dickson, Dennis W DW; Rademakers, Rosa R

Publication Date: 2020-06-01

Variant appearance in text: TMEM106B: T185S; rs3173615

PubMed Link: 32504082

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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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: N/A

PubMed Link: 32273506

Variant Present in the following documents:

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: N/A

PubMed Link: 31900393

Variant Present in the following documents:

View BVdb publication page

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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: TMEM106B: 554C>G; Thr185Ser

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 10
• Supplementary_Data2.xlsx, sheet 12
• Supplementary_Data2.xlsx, sheet 2
• Supplementary_Data2.xlsx, sheet 3
• Supplementary_Data2.xlsx, sheet 4
• Supplementary_Data2.xlsx, sheet 1
• Supplementary_Data2.xlsx, sheet 9
• Supplementary_Data2.xlsx, sheet 11

View BVdb publication page

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Lysosomal Dysfunction at the Centre of Parkinson's Disease and Frontotemporal Dementia/Amyotrophic Lateral Sclerosis.

Trends In Neurosciences

Wallings, Rebecca L RL; Humble, Stewart W SW; Ward, Michael E ME; Wade-Martins, Richard R

Publication Date: 2019-12

Variant appearance in text: N/A

PubMed Link: 31704179

Variant Present in the following documents:

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: TMEM106B: T185S; rs3173615

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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The basis of clinicopathological heterogeneity in TDP-43 proteinopathy.

Acta Neuropathologica

Kawakami, Ito I; Arai, Tetsuaki T; Hasegawa, Masato M

Publication Date: 2019-11

Variant appearance in text: TMEM106B: T185S; rs3173615

PubMed Link: 31555895

Variant Present in the following documents:

• Main text

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The TMEM106B FTLD-protective variant, rs1990621, is also associated with increased neuronal proportion.

Acta Neuropathologica

Li, Zeran Z; Farias, Fabiana H G FHG; Dube, Umber U; Del-Aguila, Jorge L JL; Mihindukulasuriya, Kathie A KA; Fernandez, Maria Victoria MV; Ibanez, Laura L; Budde, John P JP; Wang, Fengxian F; Lake, Allison M AM; Deming, Yuetiva Y; Perez, James J; Yang, Chengran C; Bahena, Jorge A JA; Qin, Wei W; Bradley, Joseph L JL; Davenport, Richard R; Bergmann, Kristy K; Morris, John C JC; Perrin, Richard J RJ; Benitez, Bruno A BA; Dougherty, Joseph D JD; Harari, Oscar O; Cruchaga, Carlos C

Publication Date: 2020-01

Variant appearance in text: TMEM106B: T185S; rs3173615

PubMed Link: 31456032

Variant Present in the following documents:

• Main text

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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: TMEM106B: T185S; rs3173615

PubMed Link: 31410005

Variant Present in the following documents:

• Main text
• ndt-15-2003.pdf

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