TMEM106B c.441+1977C>T

Variant ID: 7-12265988-C-T

NM_001134232.1(TMEM106B):c.441+1977C>T

This variant was identified in 22 publications

View GRCh38 version.




Publications:


Association between risk polymorphisms for neurodegenerative diseases and cognition in colombian patients with frontotemporal dementia.

Frontiers In Neurology
López-Cáceres, Andrea A; Cruz-Sanabria, Francy F; Mayorga, Pilar P; Sanchez, Ana Isabel AI; Gonzalez-Nieves, Silvia S; Ayala-Ramírez, Paola P; Zarante, Ignacio I; Matallana, Diana D
Publication Date: 2022

Variant appearance in text: rs6966915
PubMed Link: 36071893
Variant Present in the following documents:
  • Main text
  • fneur-13-675301.pdf
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Use of Deep-Learning Genomics to Discriminate Healthy Individuals from Those with Alzheimer's Disease or Mild Cognitive Impairment.

Behavioural Neurology
Li, Lanlan L; Yang, Yeying Y; Zhang, Qi Q; Wang, Jiao J; Jiang, Jiehui J; Neuroimaging Initiative, Alzheimer's Disease AD
Publication Date: 2021

Variant appearance in text: rs6966915
PubMed Link: 34336000
Variant Present in the following documents:
  • Main text
  • BN2021-3359103.pdf
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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: rs6966915
PubMed Link: 33314436
Variant Present in the following documents:
  • Main text
  • BPA-31-267.pdf
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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: rs6966915
PubMed Link: 31456032
Variant Present in the following documents:
  • Main text
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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: rs6966915
PubMed Link: 29926172
Variant Present in the following documents:
  • Main text
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Role of Genetics and Epigenetics in the Pathogenesis of Alzheimer's Disease and Frontotemporal Dementia.

Journal Of Alzheimer'S Disease : Jad
Fenoglio, Chiara C; Scarpini, Elio E; Serpente, Maria M; Galimberti, Daniela D
Publication Date: 2018

Variant appearance in text: rs6966915
PubMed Link: 29562532
Variant Present in the following documents:
  • Main text
  • jad-62-jad170702.pdf
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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: rs6966915
PubMed Link: 29056226
Variant Present in the following documents:
  • Main text
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Progranulin-mediated deficiency of cathepsin D results in FTD and NCL-like phenotypes in neurons derived from FTD patients.

Human Molecular Genetics
Valdez, Clarissa C; Wong, Yvette C YC; Schwake, Michael M; Bu, Guojun G; Wszolek, Zbigniew K ZK; Krainc, Dimitri D
Publication Date: 2017-12-15

Variant appearance in text: rs6966915
PubMed Link: 29036611
Variant Present in the following documents:
  • Main text
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The Lysosomal Trafficking Transmembrane Protein 106B Is Linked to Cell Death.

The Journal Of Biological Chemistry
Suzuki, Hiroaki H; Matsuoka, Masaaki M
Publication Date: 2016-10-07

Variant appearance in text: rs6966915
PubMed Link: 27563066
Variant Present in the following documents:
  • Main text
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What we know about TMEM106B in neurodegeneration.

Acta Neuropathologica
Nicholson, Alexandra M AM; Rademakers, Rosa R
Publication Date: 2016-11

Variant appearance in text: rs6966915
PubMed Link: 27543298
Variant Present in the following documents:
  • Main text
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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: rs6966915
PubMed Link: 27258413
Variant Present in the following documents:
  • Main text
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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: rs6966915
PubMed Link: 26651479
Variant Present in the following documents:
  • Main text
  • 13041_2015_Article_177.pdf
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A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.

Neurobiology Of Aging
Ferrari, Raffaele R; Grassi, Mario M; Salvi, Erika E; Borroni, Barbara B; Palluzzi, Fernando F; Pepe, Daniele D; D'Avila, Francesca F; Padovani, Alessandro A; Archetti, Silvana S; Rainero, Innocenzo I; Rubino, Elisa E; Pinessi, Lorenzo L; Benussi, Luisa L; Binetti, Giuliano G; Ghidoni, Roberta R; Galimberti, Daniela D; Scarpini, Elio E; Serpente, Maria M; Rossi, Giacomina G; Giaccone, Giorgio G; Tagliavini, Fabrizio F; Nacmias, Benedetta B; Piaceri, Irene I; Bagnoli, Silvia S; Bruni, Amalia C AC; Maletta, Raffaele G RG; Bernardi, Livia L; Postiglione, Alfredo A; Milan, Graziella G; Franceschi, Massimo M; Puca, Annibale A AA; Novelli, Valeria V; Barlassina, Cristina C; Glorioso, Nicola N; Manunta, Paolo P; Singleton, Andrew A; Cusi, Daniele D; Hardy, John J; Momeni, Parastoo P
Publication Date: 2015-10

Variant appearance in text: rs6966915
PubMed Link: 26154020
Variant Present in the following documents:
  • Main text
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Plasma levels of progranulin and interleukin-6 in frontotemporal lobar degeneration.

Neurobiology Of Aging
Gibbons, Linda L; Rollinson, Sara S; Thompson, Jennifer C JC; Robinson, Andrew A; Davidson, Yvonne S YS; Richardson, Anna A; Neary, David D; Pickering-Brown, Stuart M SM; Snowden, Julie S JS; Mann, David M A DM
Publication Date: 2015-03

Variant appearance in text: rs6966915
PubMed Link: 25435337
Variant Present in the following documents:
  • Main text
  • main.pdf
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Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.

Acta Neuropathologica Communications
Davidson, Yvonne S YS; Barker, Holly H; Robinson, Andrew C AC; Thompson, Jennifer C JC; Harris, Jenny J; Troakes, Claire C; Smith, Bradley B; Al-Saraj, Safa S; Shaw, Chris C; Rollinson, Sara S; Masuda-Suzukake, Masami M; Hasegawa, Masato M; Pickering-Brown, Stuart S; Snowden, Julie S JS; Mann, David M DM
Publication Date: 2014-06-20

Variant appearance in text: rs6966915
PubMed Link: 24950788
Variant Present in the following documents:
  • Main text
  • 40478_2014_Article_142.pdf
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Frontotemporal dementia and its subtypes: a genome-wide association study.

The Lancet. Neurology
Ferrari, Raffaele R; Hernandez, Dena G DG; Nalls, Michael A MA; Rohrer, Jonathan D JD; Ramasamy, Adaikalavan A; Kwok, John B J JB; Dobson-Stone, Carol C; Brooks, William S WS; Schofield, Peter R PR; Halliday, Glenda M GM; Hodges, John R JR; Piguet, Olivier O; Bartley, Lauren L; Thompson, Elizabeth E; Haan, Eric E; Hernández, Isabel I; Ruiz, Agustín A; Boada, Mercè M; Borroni, Barbara B; Padovani, Alessandro A; Cruchaga, Carlos C; Cairns, Nigel J NJ; Benussi, Luisa L; Binetti, Giuliano G; Ghidoni, Roberta R; Forloni, Gianluigi G; Galimberti, Daniela D; Fenoglio, Chiara C; Serpente, Maria M; Scarpini, Elio E; Clarimón, Jordi J; Lleó, Alberto A; Blesa, Rafael R; Waldö, Maria Landqvist ML; Nilsson, Karin K; Nilsson, Christer C; Mackenzie, Ian R A IR; Hsiung, Ging-Yuek R GY; Mann, David M A DM; Grafman, Jordan J; Morris, Christopher M CM; Attems, Johannes J; Griffiths, Timothy D TD; McKeith, Ian G IG; Thomas, Alan J AJ; Pietrini, P P; Huey, Edward D ED; Wassermann, Eric M EM; Baborie, Atik A; Jaros, Evelyn E; Tierney, Michael C MC; Pastor, Pau P; Razquin, Cristina C; Ortega-Cubero, Sara S; Alonso, Elena E; Perneczky, Robert R; Diehl-Schmid, Janine J; Alexopoulos, Panagiotis P; Kurz, Alexander A; Rainero, Innocenzo I; Rubino, Elisa E; Pinessi, Lorenzo L; Rogaeva, Ekaterina E; St George-Hyslop, Peter P; Rossi, Giacomina G; Tagliavini, Fabrizio F; Giaccone, Giorgio G; Rowe, James B JB; Schlachetzki, Johannes C M JC; Uphill, James J; Collinge, John J; Mead, Simon S; Danek, Adrian A; Van Deerlin, Vivianna M VM; Grossman, Murray M; Trojanowski, John Q JQ; van der Zee, Julie J; Deschamps, William W; Van Langenhove, Tim T; Cruts, Marc M; Van Broeckhoven, Christine C; Cappa, Stefano F SF; Le Ber, Isabelle I; Hannequin, Didier D; Golfier, Véronique V; Vercelletto, Martine M; Brice, Alexis A; Nacmias, Benedetta B; Sorbi, Sandro S; Bagnoli, Silvia S; Piaceri, Irene I; Nielsen, Jørgen E JE; Hjermind, Lena E LE; Riemenschneider, Matthias M; Mayhaus, Manuel M; Ibach, Bernd B; Gasparoni, Gilles G; Pichler, Sabrina S; Gu, Wei W; Rossor, Martin N MN; Fox, Nick C NC; Warren, Jason D JD; Spillantini, Maria Grazia MG; Morris, Huw R HR; Rizzu, Patrizia P; Heutink, Peter P; Snowden, Julie S JS; Rollinson, Sara S; Richardson, Anna A; Gerhard, Alexander A; Bruni, Amalia C AC; Maletta, Raffaele R; Frangipane, Francesca F; Cupidi, Chiara C; Bernardi, Livia L; Anfossi, Maria M; Gallo, Maura M; Conidi, Maria Elena ME; Smirne, Nicoletta N; Rademakers, Rosa R; Baker, Matt M; Dickson, Dennis W DW; Graff-Radford, Neill R NR; Petersen, Ronald C RC; Knopman, David D; Josephs, Keith A KA; Boeve, Bradley F BF; Parisi, Joseph E JE; Seeley, William W WW; Miller, Bruce L BL; Karydas, Anna M AM; Rosen, Howard H; van Swieten, John C JC; Dopper, Elise G P EG; Seelaar, Harro H; Pijnenburg, Yolande A L YA; Scheltens, Philip P; Logroscino, Giancarlo G; Capozzo, Rosa R; Novelli, Valeria V; Puca, Annibale A AA; Franceschi, Massimo M; Postiglione, Alfredo A; Milan, Graziella G; Sorrentino, Paolo P; Kristiansen, Mark M; Chiang, Huei-Hsin HH; Graff, Caroline C; Pasquier, Florence F; Rollin, Adeline A; Deramecourt, Vincent V; Lebert, Florence F; Kapogiannis, Dimitrios D; Ferrucci, Luigi L; Pickering-Brown, Stuart S; Singleton, Andrew B AB; Hardy, John J; Momeni, Parastoo P
Publication Date: 2014-07

Variant appearance in text: rs6966915
PubMed Link: 24943344
Variant Present in the following documents:
  • Main text
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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: rs6966915
PubMed Link: 24684749
Variant Present in the following documents:
  • Main text
  • alzrt247.pdf
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The FTLD risk factor TMEM106B and MAP6 control dendritic trafficking of lysosomes.

The Embo Journal
Schwenk, Benjamin M BM; Lang, Christina M CM; Hogl, Sebastian S; Tahirovic, Sabina S; Orozco, Denise D; Rentzsch, Kristin K; Lichtenthaler, Stefan F SF; Hoogenraad, Casper C CC; Capell, Anja A; Haass, Christian C; Edbauer, Dieter D
Publication Date: 2014-03-03

Variant appearance in text: rs6966915
PubMed Link: 24357581
Variant Present in the following documents:
  • Main text
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TMEM106B a novel risk factor for frontotemporal lobar degeneration.

Journal Of Molecular Neuroscience : Mn
van der Zee, Julie J; Van Broeckhoven, Christine C
Publication Date: 2011-11

Variant appearance in text: rs6966915
PubMed Link: 21614538
Variant Present in the following documents:
  • Main text
  • 12031_2011_Article_9555.pdf
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TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort.

Brain : A Journal Of Neurology
van der Zee, Julie J; Van Langenhove, Tim T; Kleinberger, Gernot G; Sleegers, Kristel K; Engelborghs, Sebastiaan S; Vandenberghe, Rik R; Santens, Patrick P; Van den Broeck, Marleen M; Joris, Geert G; Brys, Jolien J; Mattheijssens, Maria M; Peeters, Karin K; Cras, Patrick P; De Deyn, Peter P PP; Cruts, Marc M; Van Broeckhoven, Christine C
Publication Date: 2011-03

Variant appearance in text: rs6966915
PubMed Link: 21354975
Variant Present in the following documents:
  • Main text
  • awr007.pdf
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TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers.

Neurology
Finch, N N; Carrasquillo, M M MM; Baker, M M; Rutherford, N J NJ; Coppola, G G; Dejesus-Hernandez, M M; Crook, R R; Hunter, T T; Ghidoni, R R; Benussi, L L; Crook, J J; Finger, E E; Hantanpaa, K J KJ; Karydas, A M AM; Sengdy, P P; Gonzalez, J J; Seeley, W W WW; Johnson, N N; Beach, T G TG; Mesulam, M M; Forloni, G G; Kertesz, A A; Knopman, D S DS; Uitti, R R; White, C L CL; Caselli, R R; Lippa, C C; Bigio, E H EH; Wszolek, Z K ZK; Binetti, G G; Mackenzie, I R IR; Miller, B L BL; Boeve, B F BF; Younkin, S G SG; Dickson, D W DW; Petersen, R C RC; Graff-Radford, N R NR; Geschwind, D H DH; Rademakers, R R
Publication Date: 2011-02-01

Variant appearance in text: rs6966915
PubMed Link: 21178100
Variant Present in the following documents:
  • Main text
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Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.

Nature Genetics
Van Deerlin, Vivianna M VM; Sleiman, Patrick M A PM; Martinez-Lage, Maria M; Chen-Plotkin, Alice A; Wang, Li-San LS; Graff-Radford, Neill R NR; Dickson, Dennis W DW; Rademakers, Rosa R; Boeve, Bradley F BF; Grossman, Murray M; Arnold, Steven E SE; Mann, David M A DM; Pickering-Brown, Stuart M SM; Seelaar, Harro H; Heutink, Peter P; van Swieten, John C JC; Murrell, Jill R JR; Ghetti, Bernardino B; Spina, Salvatore S; Grafman, Jordan J; Hodges, John J; Spillantini, Maria Grazia MG; Gilman, Sid S; Lieberman, Andrew P AP; Kaye, Jeffrey A JA; Woltjer, Randall L RL; Bigio, Eileen H EH; Mesulam, Marsel M; Al-Sarraj, Safa S; Troakes, Claire C; Rosenberg, Roger N RN; White, Charles L CL; Ferrer, Isidro I; Lladó, Albert A; Neumann, Manuela M; Kretzschmar, Hans A HA; Hulette, Christine Marie CM; Welsh-Bohmer, Kathleen A KA; Miller, Bruce L BL; Alzualde, Ainhoa A; Lopez de Munain, Adolfo A; McKee, Ann C AC; Gearing, Marla M; Levey, Allan I AI; Lah, James J JJ; Hardy, John J; Rohrer, Jonathan D JD; Lashley, Tammaryn T; Mackenzie, Ian R A IR; Feldman, Howard H HH; Hamilton, Ronald L RL; Dekosky, Steven T ST; van der Zee, Julie J; Kumar-Singh, Samir S; Van Broeckhoven, Christine C; Mayeux, Richard R; Vonsattel, Jean Paul G JP; Troncoso, Juan C JC; Kril, Jillian J JJ; Kwok, John B J JB; Halliday, Glenda M GM; Bird, Thomas D TD; Ince, Paul G PG; Shaw, Pamela J PJ; Cairns, Nigel J NJ; Morris, John C JC; McLean, Catriona Ann CA; DeCarli, Charles C; Ellis, William G WG; Freeman, Stefanie H SH; Frosch, Matthew P MP; Growdon, John H JH; Perl, Daniel P DP; Sano, Mary M; Bennett, David A DA; Schneider, Julie A JA; Beach, Thomas G TG; Reiman, Eric M EM; Woodruff, Bryan K BK; Cummings, Jeffrey J; Vinters, Harry V HV; Miller, Carol A CA; Chui, Helena C HC; Alafuzoff, Irina I; Hartikainen, Päivi P; Seilhean, Danielle D; Galasko, Douglas D; Masliah, Eliezer E; Cotman, Carl W CW; Tuñón, M Teresa MT; Martínez, M Cristina Caballero MC; Munoz, David G DG; Carroll, Steven L SL; Marson, Daniel D; Riederer, Peter F PF; Bogdanovic, Nenad N; Schellenberg, Gerard D GD; Hakonarson, Hakon H; Trojanowski, John Q JQ; Lee, Virginia M-Y VM
Publication Date: 2010-03

Variant appearance in text: rs6966915
PubMed Link: 20154673
Variant Present in the following documents:
  • Main text
  • nihms-172758.pdf
  • NIHMS172758-supplement-1.pdf
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