GRN c.1157G>A ;(p.W386*)

Variant ID: 17-42429141-G-A

NM_002087.2(GRN):c.1157G>A;(p.W386*)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


MicroRNA signatures in genetic frontotemporal dementia and amyotrophic lateral sclerosis.

Annals Of Clinical And Translational Neurology
Kmetzsch, Virgilio V; Latouche, Morwena M; Saracino, Dario D; Rinaldi, Daisy D; Camuzat, Agnès A; Gareau, Thomas T; , ; Le Ber, Isabelle I; Colliot, Olivier O; Becker, Emmanuelle E
Publication Date: 2022-11

Variant appearance in text: GRN: 1157G>A
PubMed Link: 36264717
Variant Present in the following documents:
  • ACN3-9-1778.pdf
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Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.

The Lancet. Neurology
Moore, Katrina M KM; Nicholas, Jennifer J; Grossman, Murray M; McMillan, Corey T CT; Irwin, David J DJ; Massimo, Lauren L; Van Deerlin, Vivianna M VM; Warren, Jason D JD; Fox, Nick C NC; Rossor, Martin N MN; Mead, Simon S; Bocchetta, Martina M; Boeve, Bradley F BF; Knopman, David S DS; Graff-Radford, Neill R NR; Forsberg, Leah K LK; Rademakers, Rosa R; Wszolek, Zbigniew K ZK; van Swieten, John C JC; Jiskoot, Lize C LC; Meeter, Lieke H LH; Dopper, Elise Gp EG; Papma, Janne M JM; Snowden, Julie S JS; Saxon, Jennifer J; Jones, Matthew M; Pickering-Brown, Stuart S; Le Ber, Isabelle I; Camuzat, Agnès A; Brice, Alexis A; Caroppo, Paola P; Ghidoni, Roberta R; Pievani, Michela M; Benussi, Luisa L; Binetti, Giuliano G; Dickerson, Bradford C BC; Lucente, Diane D; Krivensky, Samantha S; Graff, Caroline C; Öijerstedt, Linn L; Fallström, Marie M; Thonberg, Håkan H; Ghoshal, Nupur N; Morris, John C JC; Borroni, Barbara B; Benussi, Alberto A; Padovani, Alessandro A; Galimberti, Daniela D; Scarpini, Elio E; Fumagalli, Giorgio G GG; Mackenzie, Ian R IR; Hsiung, Ging-Yuek R GR; Sengdy, Pheth P; Boxer, Adam L AL; Rosen, Howie H; Taylor, Joanne B JB; Synofzik, Matthis M; Wilke, Carlo C; Sulzer, Patricia P; Hodges, John R JR; Halliday, Glenda G; Kwok, John J; Sanchez-Valle, Raquel R; Lladó, Albert A; Borrego-Ecija, Sergi S; Santana, Isabel I; Almeida, Maria Rosário MR; Tábuas-Pereira, Miguel M; Moreno, Fermin F; Barandiaran, Myriam M; Indakoetxea, Begoña B; Levin, Johannes J; Danek, Adrian A; Rowe, James B JB; Cope, Thomas E TE; Otto, Markus M; Anderl-Straub, Sarah S; de Mendonça, Alexandre A; Maruta, Carolina C; Masellis, Mario M; Black, Sandra E SE; Couratier, Philippe P; Lautrette, Geraldine G; Huey, Edward D ED; Sorbi, Sandro S; Nacmias, Benedetta B; Laforce, Robert R; Tremblay, Marie-Pier L ML; Vandenberghe, Rik R; Damme, Philip Van PV; Rogalski, Emily J EJ; Weintraub, Sandra S; Gerhard, Alexander A; Onyike, Chiadi U CU; Ducharme, Simon S; Papageorgiou, Sokratis G SG; Ng, Adeline Su Lyn ASL; Brodtmann, Amy A; Finger, Elizabeth E; Guerreiro, Rita R; Bras, Jose J; Rohrer, Jonathan D JD; ,
Publication Date: 2020-02

Variant appearance in text: GRN: 1157G>A
PubMed Link: 31810826
Variant Present in the following documents:
  • NIHMS1067362-supplement-Supplement.pdf
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Downregulation of exosomal miR-204-5p and miR-632 as a biomarker for FTD: a GENFI study.

Journal Of Neurology, Neurosurgery, And Psychiatry
Schneider, Raphael R; McKeever, Paul P; Kim, TaeHyung T; Graff, Caroline C; van Swieten, John Cornelis JC; Karydas, Anna A; Boxer, Adam A; Rosen, Howie H; Miller, Bruce L BL; Laforce, Robert R; Galimberti, Daniela D; Masellis, Mario M; Borroni, Barbara B; Zhang, Zhaolei Z; Zinman, Lorne L; Rohrer, Jonathan Daniel JD; Tartaglia, Maria Carmela MC; Robertson, Janice J; ,
Publication Date: 2018-08

Variant appearance in text: GRN: W386X
PubMed Link: 29434051
Variant Present in the following documents:
  • jnnp-2017-317492supp001.pdf
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Progranulin plasma levels predict the presence of GRN mutations in asymptomatic subjects and do not correlate with brain atrophy: results from the GENFI study.

Neurobiology Of Aging
Galimberti, Daniela D; Fumagalli, Giorgio G GG; Fenoglio, Chiara C; Cioffi, Sara M G SMG; Arighi, Andrea A; Serpente, Maria M; Borroni, Barbara B; Padovani, Alessandro A; Tagliavini, Fabrizio F; Masellis, Mario M; Tartaglia, Maria Carmela MC; van Swieten, John J; Meeter, Lieke L; Graff, Caroline C; de Mendonça, Alexandre A; Bocchetta, Martina M; Rohrer, Jonathan D JD; Scarpini, Elio E; ,
Publication Date: 2018-02

Variant appearance in text: GRN: W386X
PubMed Link: 29146050
Variant Present in the following documents:
  • Main text
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Reduced Tau protein expression is associated with frontotemporal degeneration with progranulin mutation.

Acta Neuropathologica Communications
Papegaey, Anthony A; Eddarkaoui, Sabiha S; Deramecourt, Vincent V; Fernandez-Gomez, Francisco-Jose FJ; Pantano, Pierre P; Obriot, Hélène H; Machala, Camille C; Anquetil, Vincent V; Camuzat, Agnès A; Brice, Alexis A; Maurage, Claude-Alain CA; Le Ber, Isabelle I; Duyckaerts, Charles C; Buée, Luc L; Sergeant, Nicolas N; Buée-Scherrer, Valérie V
Publication Date: 2016-07-19

Variant appearance in text: GRN: 1157G>A
PubMed Link: 27435172
Variant Present in the following documents:
  • Main text
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A network of RNA and protein interactions in Fronto Temporal Dementia.

Frontiers In Molecular Neuroscience
Fontana, Francesca F; Siva, Kavitha K; Denti, Michela A MA
Publication Date: 2015

Variant appearance in text: GRN: W386X
PubMed Link: 25852467
Variant Present in the following documents:
  • Main text
  • fnmol-08-00009.pdf
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Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis.

The Lancet. Neurology
Rohrer, Jonathan D JD; Nicholas, Jennifer M JM; Cash, David M DM; van Swieten, John J; Dopper, Elise E; Jiskoot, Lize L; van Minkelen, Rick R; Rombouts, Serge A SA; Cardoso, M Jorge MJ; Clegg, Shona S; Espak, Miklos M; Mead, Simon S; Thomas, David L DL; De Vita, Enrico E; Masellis, Mario M; Black, Sandra E SE; Freedman, Morris M; Keren, Ron R; MacIntosh, Bradley J BJ; Rogaeva, Ekaterina E; Tang-Wai, David D; Tartaglia, Maria Carmela MC; Laforce, Robert R; Tagliavini, Fabrizio F; Tiraboschi, Pietro P; Redaelli, Veronica V; Prioni, Sara S; Grisoli, Marina M; Borroni, Barbara B; Padovani, Alessandro A; Galimberti, Daniela D; Scarpini, Elio E; Arighi, Andrea A; Fumagalli, Giorgio G; Rowe, James B JB; Coyle-Gilchrist, Ian I; Graff, Caroline C; Fallström, Marie M; Jelic, Vesna V; Ståhlbom, Anne Kinhult AK; Andersson, Christin C; Thonberg, Håkan H; Lilius, Lena L; Frisoni, Giovanni B GB; Pievani, Michela M; Bocchetta, Martina M; Benussi, Luisa L; Ghidoni, Roberta R; Finger, Elizabeth E; Sorbi, Sandro S; Nacmias, Benedetta B; Lombardi, Gemma G; Polito, Cristina C; Warren, Jason D JD; Ourselin, Sebastien S; Fox, Nick C NC; Rossor, Martin N MN; Binetti, Giuliano G
Publication Date: 2015-03

Variant appearance in text: GRN: Trp386X
PubMed Link: 25662776
Variant Present in the following documents:
  • Main text
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Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration.

Archives Of Neurology
Chen-Plotkin, Alice S AS; Martinez-Lage, Maria M; Sleiman, Patrick M A PM; Hu, William W; Greene, Robert R; Wood, Elisabeth McCarty EM; Bing, Shaoxu S; Grossman, Murray M; Schellenberg, Gerard D GD; Hatanpaa, Kimmo J KJ; Weiner, Myron F MF; White, Charles L CL; Brooks, William S WS; Halliday, Glenda M GM; Kril, Jillian J JJ; Gearing, Marla M; Beach, Thomas G TG; Graff-Radford, Neill R NR; Dickson, Dennis W DW; Rademakers, Rosa R; Boeve, Bradley F BF; Pickering-Brown, Stuart M SM; Snowden, Julie J; van Swieten, John C JC; Heutink, Peter P; Seelaar, Harro H; Murrell, Jill R JR; Ghetti, Bernardino B; Spina, Salvatore S; Grafman, Jordan J; Kaye, Jeffrey A JA; Woltjer, Randall L RL; Mesulam, Marsel M; Bigio, Eileen E; Lladó, Albert A; Miller, Bruce L BL; Alzualde, Ainhoa A; Moreno, Fermin F; Rohrer, Jonathan D JD; Mackenzie, Ian R A IR; Feldman, Howard H HH; Hamilton, Ronald L RL; Cruts, Marc M; Engelborghs, Sebastiaan S; De Deyn, Peter P PP; Van Broeckhoven, Christine C; Bird, Thomas D TD; Cairns, Nigel J NJ; Goate, Allison A; Frosch, Matthew P MP; Riederer, Peter F PF; Bogdanovic, Nenad N; Lee, Virginia M Y VM; Trojanowski, John Q JQ; Van Deerlin, Vivianna M VM
Publication Date: 2011-04

Variant appearance in text: GRN: 1157G>A; W386X
PubMed Link: 21482928
Variant Present in the following documents:
  • Main text
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The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.

Archives Of Neurology
Yu, Chang-En CE; Bird, Thomas D TD; Bekris, Lynn M LM; Montine, Thomas J TJ; Leverenz, James B JB; Steinbart, Ellen E; Galloway, Nichole M NM; Feldman, Howard H; Woltjer, Randall R; Miller, Carol A CA; Wood, Elisabeth McCarty EM; Grossman, Murray M; McCluskey, Leo L; Clark, Christopher M CM; Neumann, Manuela M; Danek, Adrian A; Galasko, Douglas R DR; Arnold, Steven E SE; Chen-Plotkin, Alice A; Karydas, Anna A; Miller, Bruce L BL; Trojanowski, John Q JQ; Lee, Virginia M-Y VM; Schellenberg, Gerard D GD; Van Deerlin, Vivianna M VM
Publication Date: 2010-02

Variant appearance in text: GRN: 1157G>A
PubMed Link: 20142524
Variant Present in the following documents:
  • Main text
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