GRN c.1477C>T ;(p.R493*)

Variant ID: 17-42429772-C-T

NM_002087.2(GRN):c.1477C>T;(p.R493*)

This variant was identified in 92 publications

View GRCh38 version.




Publications:


Patients with sporadic FTLD exhibit similar increases in lysosomal proteins and storage material as patients with FTD due to GRN mutations.

Acta Neuropathologica Communications
Davis, Skylar E SE; Cook, Anna K AK; Hall, Justin A JA; Voskobiynyk, Yuliya Y; Carullo, Nancy V NV; Boyle, Nicholas R NR; Hakim, Ahmad R AR; Anderson, Kristian M KM; Hobdy, Kierra P KP; Pugh, Derian A DA; Murchison, Charles F CF; McMeekin, Laura J LJ; Simmons, Micah M; Margolies, Katherine A KA; Cowell, Rita M RM; Nana, Alissa L AL; Spina, Salvatore S; Grinberg, Lea T LT; Miller, Bruce L BL; Seeley, William W WW; Arrant, Andrew E AE
Publication Date: 2023-04-28

Variant appearance in text: GRN: Arg493*
PubMed Link: 37118844
Variant Present in the following documents:
  • Main text
  • 40478_2023_Article_1571.pdf
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Progranulin Gene Mutation in Chinese Patients with Frontotemporal Dementia: A Case Report and Literature Review.

Journal Of Alzheimer'S Disease : Jad
Chu, Min M; Nan, Haitian H; Jiang, Deming D; Liu, Li L; Huang, Anqi A; Wang, Yihao Y; Wu, Liyong L
Publication Date: 2023-03-23

Variant appearance in text: GRN: Arg493X
PubMed Link: 36970912
Variant Present in the following documents:
  • Main text
  • jad-93-jad230052.pdf
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Disrupted myelin lipid metabolism differentiates frontotemporal dementia caused by GRN and C9orf72 gene mutations.

Acta Neuropathologica Communications
Marian, Oana C OC; Teo, Jonathan D JD; Lee, Jun Yup JY; Song, Huitong H; Kwok, John B JB; Landin-Romero, Ramon R; Halliday, Glenda G; Don, Anthony S AS
Publication Date: 2023-03-27

Variant appearance in text: GRN: R493X
PubMed Link: 36967384
Variant Present in the following documents:
  • Main text
  • 40478_2023_Article_1544.pdf
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Advancing the Genetics of Lewy Body Disorders with Disease-Modifying Treatments in Mind.

Advanced Genetics (Hoboken, N.J.)
Levy, Gilberto G; Levin, Bruce B; Engelhardt, Eliasz E
Publication Date: 2022-12

Variant appearance in text: GRN: Arg493*
PubMed Link: 36911298
Variant Present in the following documents:
  • GGN2-3-2200011.pdf
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Targeting nonsense-mediated RNA decay does not increase progranulin levels in the Grn R493X mouse model of frontotemporal dementia.

Plos One
Smith, Denise M DM; Niehoff, Michael L ML; Ling, Karen K; Jafar-Nejad, Paymaan P; Rigo, Frank F; Farr, Susan A SA; Wilkinson, Miles F MF; Nguyen, Andrew D AD
Publication Date: 2023

Variant appearance in text: GRN: R493X
PubMed Link: 36893203
Variant Present in the following documents:
  • Main text
  • pone.0282822.pdf
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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: GRN: 1477C>T; Arg493Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Preclinical Interventions in Mouse Models of Frontotemporal Dementia Due to Progranulin Mutations.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics
Kashyap, Shreya N SN; Boyle, Nicholas R NR; Roberson, Erik D ED
Publication Date: 2023-02-13

Variant appearance in text: GRN: R493X
PubMed Link: 36781744
Variant Present in the following documents:
  • Main text
  • 13311_2023_Article_1348.pdf
View BVdb publication page



Genome editing is induced in a binary manner in single human cells.

Iscience
Takahashi, Gou G; Kondo, Daiki D; Maeda, Minato M; Morishita, Yuji Y; Miyaoka, Yuichiro Y
Publication Date: 2022-12-22

Variant appearance in text: GRN: 1477C>T; R493X
PubMed Link: 36483018
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc1.pdf
View BVdb publication page



The Advance on Frontotemporal Dementia (FTD)'s Neuropathology and Molecular Genetics.

Mediators Of Inflammation
Wang, Jindong J; Wang, Bailing B; Zhou, Tiantian T
Publication Date: 2022

Variant appearance in text: GRN: R493X
PubMed Link: 36274975
Variant Present in the following documents:
  • MI2022-5003902.pdf
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Deficiency of the frontotemporal dementia gene GRN results in gangliosidosis.

Nature Communications
Boland, Sebastian S; Swarup, Sharan S; Ambaw, Yohannes A YA; Malia, Pedro C PC; Richards, Ruth C RC; Fischer, Alexander W AW; Singh, Shubham S; Aggarwal, Geetika G; Spina, Salvatore S; Nana, Alissa L AL; Grinberg, Lea T LT; Seeley, William W WW; Surma, Michal A MA; Klose, Christian C; Paulo, Joao A JA; Nguyen, Andrew D AD; Harper, J Wade JW; Walther, Tobias C TC; Farese, Robert V RV
Publication Date: 2022-10-07

Variant appearance in text: GRN: R493X
PubMed Link: 36207292
Variant Present in the following documents:
  • 41467_2022_33500_MOESM4_ESM.xlsx, sheet 2
  • 41467_2022_33500_MOESM4_ESM.xlsx, sheet 3
  • 41467_2022_33500_MOESM4_ESM.xlsx, sheet 5
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Plasma Small Extracellular Vesicles with Complement Alterations in GRN/C9orf72 and Sporadic Frontotemporal Lobar Degeneration.

Cells
Bellini, Sonia S; Saraceno, Claudia C; Benussi, Luisa L; Squitti, Rosanna R; Cimini, Sara S; Ricci, Martina M; Canafoglia, Laura L; Coppola, Cinzia C; Puoti, Gianfranco G; Ferrari, Clarissa C; Longobardi, Antonio A; Nicsanu, Roland R; Lombardi, Marta M; D'Arrigo, Giulia G; Verderio, Claudia C; Binetti, Giuliano G; Rossi, Giacomina G; Ghidoni, Roberta R
Publication Date: 2022-01-30

Variant appearance in text: GRN: 1477C>T; Arg493X
PubMed Link: 35159297
Variant Present in the following documents:
  • Main text
  • cells-11-00488.pdf
View BVdb publication page



Plasma Small Extracellular Vesicles with Complement Alterations in GRN/C9orf72 and Sporadic Frontotemporal Lobar Degeneration.

Cells
Bellini, Sonia S; Saraceno, Claudia C; Benussi, Luisa L; Squitti, Rosanna R; Cimini, Sara S; Ricci, Martina M; Canafoglia, Laura L; Coppola, Cinzia C; Puoti, Gianfranco G; Ferrari, Clarissa C; Longobardi, Antonio A; Nicsanu, Roland R; Lombardi, Marta M; D'Arrigo, Giulia G; Verderio, Claudia C; Binetti, Giuliano G; Rossi, Giacomina G; Ghidoni, Roberta R
Publication Date: 2022-01-30

Variant appearance in text: GRN: 1477C>T; Arg493X
PubMed Link: 35159297
Variant Present in the following documents:
  • Main text
  • cells-11-00488.pdf
View BVdb publication page



FTLD-TDP assemblies seed neoaggregates with subtype-specific features via a prion-like cascade.

Embo Reports
De Rossi, Pierre P; Lewis, Amanda J AJ; Furrer, Johanna J; De Vos, Laura L; Demeter, Tomas T; Zbinden, Aurélie A; Zhong, Weijia W; Wiersma, Vera I VI; Scialo, Carlo C; Weber, Julien J; Guo, Zhongning Z; Scaramuzza, Stefano S; Di Fabrizio, Marta M; Böing, Carolin C; Castaño-Díez, Daniel D; Al-Amoudi, Ashraf A; Pérez-Berlanga, Manuela M; Lashley, Tammaryn T; Stahlberg, Henning H; Polymenidou, Magdalini M
Publication Date: 2021-12-06

Variant appearance in text: GRN: R493X
PubMed Link: 34806807
Variant Present in the following documents:
  • EMBR-22-e53877-s002.pdf
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The Clinical Spectrum of Young Onset Dementia Points to Its Stochastic Origins.

Journal Of Alzheimer'S Disease Reports
Panegyres, Peter K PK
Publication Date: 2021

Variant appearance in text: GRN: R493X
PubMed Link: 34632303
Variant Present in the following documents:
  • Main text
View BVdb publication page



FTD-PSP is an Unusual Clinical Phenotype in A Frontotemporal Dementia Patient with A Novel Progranulin Mutation.

Aging And Disease
Deng, Bin B; Zheng, Zhe Z; Zheng, Jialing J; Yang, Wanlin W; Huang, Yu Y; Luo, Yuqi Y; Jin, Dana D; Shen, Lu L; Jin, Kunlin K; Wang, Qing Q
Publication Date: 2021-10

Variant appearance in text: GRN: 1477C>T
PubMed Link: 34631218
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effect of the Histone Deacetylase Inhibitor FRM-0334 on Progranulin Levels in Patients With Progranulin Gene Haploinsufficiency: A Randomized Clinical Trial.

Jama Network Open
Ljubenkov, Peter A PA; Edwards, Lauren L; Iaccarino, Leonardo L; La Joie, Renaud R; Rojas, Julio C JC; Koestler, Mary M; Harris, Baruch B; Boeve, Bradley F BF; Borroni, Barbara B; van Swieten, John C JC; Grossman, Murray M; Pasquier, Florence F; Frisoni, Giovanni B GB; Mummery, Catherine J CJ; Vandenberghe, Rik R; Le Ber, Isabelle I; Hannequin, Didier D; McGinnis, Scott M SM; Auriacombe, Sophie S; Onofrj, Marco M; Goodman, Ira J IJ; Riordan, Henry J HJ; Wisniewski, Gary G; Hesterman, Jacob J; Marek, Ken K; Haynes, Beth Ann BA; Patzke, Holger H; Koenig, Gerhard G; Hilt, Dana D; Moebius, Hans H; Boxer, Adam L AL
Publication Date: 2021-09-01

Variant appearance in text: GRN: R493X
PubMed Link: 34559230
Variant Present in the following documents:
  • Main text
View BVdb publication page



RNA-Based Therapies for Neurodegenerative Diseases.

Missouri Medicine
Ayala, Yuna M YM; Nguyen, Andrew D AD
Publication Date: 2021

Variant appearance in text: GRN: R493X
PubMed Link: 34373669
Variant Present in the following documents:
  • Main text
View BVdb publication page



Tweaking Progranulin Expression: Therapeutic Avenues and Opportunities.

Frontiers In Molecular Neuroscience
Terryn, Joke J; Verfaillie, Catherine M CM; Van Damme, Philip P
Publication Date: 2021

Variant appearance in text: GRN: R493X
PubMed Link: 34366786
Variant Present in the following documents:
  • Main text
  • fnmol-14-713031.pdf
View BVdb publication page



Generation of cryopreserved macrophages from normal and genetically engineered human pluripotent stem cells for disease modelling.

Plos One
Munn, Christie C; Burton, Sarah S; Dickerson, Sarah S; Bakshy, Kiranmayee K; Strouse, Anne A; Rajesh, Deepika D
Publication Date: 2021

Variant appearance in text: GRN: R493X; rs63751294
PubMed Link: 33886609
Variant Present in the following documents:
  • Main text
View BVdb publication page



Neuropathological and behavioral characterization of aged Grn R493X progranulin-deficient frontotemporal dementia knockin mice.

Acta Neuropathologica Communications
Frew, Jonathan J; Nygaard, Haakon Berge HB
Publication Date: 2021-04-01

Variant appearance in text: GRN: R493X
PubMed Link: 33795008
Variant Present in the following documents:
  • Main text
  • 40478_2021_Article_1158.pdf
View BVdb publication page



Frontotemporal lobar degeneration proteinopathies have disparate microscopic patterns of white and grey matter pathology.

Acta Neuropathologica Communications
Giannini, Lucia A A LAA; Peterson, Claire C; Ohm, Daniel D; Xie, Sharon X SX; McMillan, Corey T CT; Raskovsky, Katya K; Massimo, Lauren L; Suh, EunRah E; Van Deerlin, Vivianna M VM; Wolk, David A DA; Trojanowski, John Q JQ; Lee, Edward B EB; Grossman, Murray M; Irwin, David J DJ
Publication Date: 2021-02-23

Variant appearance in text: GRN: 1477C>T; R493*
PubMed Link: 33622418
Variant Present in the following documents:
  • Main text
  • 40478_2021_Article_1129.pdf
View BVdb publication page



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: GRN: 1477C>T
PubMed Link: 33433878
Variant Present in the following documents:
  • Main text
View BVdb publication page



Progression of Behavioral Disturbances and Neuropsychiatric Symptoms in Patients With Genetic Frontotemporal Dementia.

Jama Network Open
Benussi, Alberto A; Premi, Enrico E; Gazzina, Stefano S; Brattini, Chiara C; Bonomi, Elisa E; Alberici, Antonella A; Jiskoot, Lize L; van Swieten, John C JC; Sanchez-Valle, Raquel R; Moreno, Fermin F; Laforce, Robert R; Graff, Caroline C; Synofzik, Matthis M; Galimberti, Daniela D; Masellis, Mario M; Tartaglia, Carmela C; Rowe, James B JB; Finger, Elizabeth E; Vandenberghe, Rik R; de Mendonça, Alexandre A; Tagliavini, Fabrizio F; Santana, Isabel I; Ducharme, Simon S; Butler, Chris R CR; Gerhard, Alexander A; Levin, Johannes J; Danek, Adrian A; Otto, Markus M; Frisoni, Giovanni G; Ghidoni, Roberta R; Sorbi, Sandro S; Le Ber, Isabelle I; Pasquier, Florence F; Peakman, Georgia G; Todd, Emily E; Bocchetta, Martina M; Rohrer, Jonathan D JD; Borroni, Barbara B; ,
Publication Date: 2021-01-04

Variant appearance in text: GRN: R493X
PubMed Link: 33404617
Variant Present in the following documents:
  • jamanetwopen-e2030194-s001.pdf
View BVdb publication page



Rates of Brain Atrophy Across Disease Stages in Familial Frontotemporal Dementia Associated With MAPT, GRN, and C9orf72 Pathogenic Variants.

Jama Network Open
Staffaroni, Adam M AM; Goh, Sheng-Yang M SM; Cobigo, Yann Y; Ong, Elise E; Lee, Suzee E SE; Casaletto, Kaitlin B KB; Wolf, Amy A; Forsberg, Leah K LK; Ghoshal, Nupur N; Graff-Radford, Neill R NR; Grossman, Murray M; Heuer, Hilary W HW; Hsiung, Ging-Yuek R GR; Kantarci, Kejal K; Knopman, David S DS; Kremers, Walter K WK; Mackenzie, Ian R IR; Miller, Bruce L BL; Pedraza, Otto O; Rascovsky, Katya K; Tartaglia, M Carmela MC; Wszolek, Zbigniew K ZK; Kramer, Joel H JH; Kornak, John J; Boeve, Bradley F BF; Boxer, Adam L AL; Rosen, Howard J HJ; ,
Publication Date: 2020-10-01

Variant appearance in text: GRN: 1477C>T; R493X
PubMed Link: 33112398
Variant Present in the following documents:
  • jamanetwopen-e2022847-s001.pdf
View BVdb publication page



Genetic architecture of common non-Alzheimer's disease dementias.

Neurobiology Of Disease
Guerreiro, Rita R; Gibbons, Elizabeth E; Tábuas-Pereira, Miguel M; Kun-Rodrigues, Celia C; Santo, Gustavo C GC; Bras, Jose J
Publication Date: 2020-08

Variant appearance in text: GRN: Arg493*
PubMed Link: 32439597
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies.

Acta Neuropathologica Communications
Orme, Tatiana T; Hernandez, Dena D; Ross, Owen A OA; Kun-Rodrigues, Celia C; Darwent, Lee L; Shepherd, Claire E CE; Parkkinen, Laura L; Ansorge, Olaf O; Clark, Lorraine L; Honig, Lawrence S LS; Marder, Karen K; Lemstra, Afina A; Rogaeva, Ekaterina E; St George-Hyslop, Peter P; Londos, Elisabet E; Zetterberg, Henrik H; Morgan, Kevin K; Troakes, Claire C; Al-Sarraj, Safa S; Lashley, Tammaryn T; Holton, Janice J; Compta, Yaroslau Y; Van Deerlin, Vivianna V; Trojanowski, John Q JQ; Serrano, Geidy E GE; Beach, Thomas G TG; Lesage, Suzanne S; Galasko, Douglas D; Masliah, Eliezer E; Santana, Isabel I; Pastor, Pau P; Tienari, Pentti J PJ; Myllykangas, Liisa L; Oinas, Minna M; Revesz, Tamas T; Lees, Andrew A; Boeve, Brad F BF; Petersen, Ronald C RC; Ferman, Tanis J TJ; Escott-Price, Valentina V; Graff-Radford, Neill N; Cairns, Nigel J NJ; Morris, John C JC; Pickering-Brown, Stuart S; Mann, David D; Halliday, Glenda G; Stone, David J DJ; Dickson, Dennis W DW; Hardy, John J; Singleton, Andrew A; Guerreiro, Rita R; Bras, Jose J
Publication Date: 2020-01-29

Variant appearance in text: GRN: Arg493*
PubMed Link: 31996268
Variant Present in the following documents:
  • Main text
  • 40478_2020_Article_879.pdf
View BVdb publication page



Approaches to develop therapeutics to treat frontotemporal dementia.

Neuropharmacology
Elia, Lisa P LP; Reisine, Terry T; Alijagic, Amela A; Finkbeiner, Steven S
Publication Date: 2020-04

Variant appearance in text: GRN: R493X
PubMed Link: 31962288
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Ramos, Eliana Marisa EM; Dokuru, Deepika Reddy DR; Van Berlo, Victoria V; Wojta, Kevin K; Wang, Qing Q; Huang, Alden Y AY; Deverasetty, Sandeep S; Qin, Yue Y; van Blitterswijk, Marka M; Jackson, Jazmyne J; Appleby, Brian B; Bordelon, Yvette Y; Brannelly, Patrick P; Brushaber, Danielle E DE; Dickerson, Bradford B; Dickinson, Susan S; Domoto-Reilly, Kimiko K; Faber, Kelley K; Fields, Julie J; Fong, Jamie J; Foroud, Tatiana T; Forsberg, Leah K LK; Gavrilova, Ralitza R; Ghoshal, Nupur N; Goldman, Jill J; Graff-Radford, Jonathan J; Graff-Radford, Neill N; Grant, Ian I; Grossman, Murray M; Heuer, Hilary W HW; Hsiung, Ging-Yuek R GR; Huey, Edward E; Irwin, David D; Kantarci, Kejal K; Karydas, Anna A; Kaufer, Daniel D; Kerwin, Diana D; Knopman, David D; Kornak, John J; Kramer, Joel H JH; Kremers, Walter W; Kukull, Walter W; Litvan, Irene I; Ljubenkov, Peter P; Lungu, Codrin C; Mackenzie, Ian I; Mendez, Mario F MF; Miller, Bruce L BL; Onyike, Chiadi C; Pantelyat, Alexander A; Pearlman, Rodney R; Petrucelli, Len L; Potter, Madeline M; Rankin, Katherine P KP; Rascovsky, Katya K; Roberson, Erik D ED; Rogalski, Emily E; Shaw, Leslie L; Syrjanen, Jeremy J; Tartaglia, Maria Carmela MC; Tatton, Nadine N; Taylor, Joanne J; Toga, Arthur A; Trojanowski, John Q JQ; Weintraub, Sandra S; Wong, Bonnie B; Wszolek, Zbigniew Z; Rademakers, Rosa R; Boeve, Brad F BF; Rosen, Howard J HJ; Boxer, Adam L AL; , ; Coppola, Giovanni G
Publication Date: 2020-01

Variant appearance in text: GRN: 1477C>T; Arg493X
PubMed Link: 31914217
Variant Present in the following documents:
  • Main text
View BVdb publication page



Frontotemporal dementia non-sense mutation of progranulin rescued by aminoglycosides.

Human Molecular Genetics
Kuang, Lisha L; Hashimoto, Kei K; Huang, Eric J EJ; Gentry, Matthew S MS; Zhu, Haining H
Publication Date: 2020-03-13

Variant appearance in text: GRN: R493X
PubMed Link: 31913476
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: Arg493X; rs63751294
PubMed Link: 31810826
Variant Present in the following documents:
  • Main text
  • nihms-1067362.pdf
  • NIHMS1067362-supplement-Supplement.pdf
View BVdb publication page



FTLD-TDP With and Without GRN Mutations Cause Different Patterns of CA1 Pathology.

Journal Of Neuropathology And Experimental Neurology
Mao, Qinwen Q; Zheng, Xiaojing X; Gefen, Tamar T; Rogalski, Emily E; Spencer, Callen L CL; Rademakers, Rosa R; Fought, Angela J AJ; Kohler, Missia M; Weintraub, Sandra S; Xia, Haibin H; Mesulam, Marek-Marsel MM; Bigio, Eileen H EH
Publication Date: 2019-09-01

Variant appearance in text: GRN: 1477C>T
PubMed Link: 31361008
Variant Present in the following documents:
  • Main text
View BVdb publication page



Female-Specific Role of Progranulin to Suppress Bone Formation.

Endocrinology
Wang, Liping L; Roth, Theresa T; Nakamura, Mary C MC; Nissenson, Robert A RA
Publication Date: 2019-09-01

Variant appearance in text: PGRN: R493X
PubMed Link: 31237618
Variant Present in the following documents:
  • Main text
View BVdb publication page



Frequency of frontotemporal dementia gene variants in C9ORF72, MAPT, and GRN in academic versus commercial laboratory cohorts.

Advances In Genomics And Genetics
Steele, Natasha Zr NZ; Bright, Alison R AR; Lee, Suzee E SE; Fong, Jamie C JC; Bonham, Luke W LW; Karydas, Anna A; Karbassi, Izabela D ID; Pribadi, Mochtar M; Meservey, Marc A MA; Gallen, Matthew C MC; Ramos, Eliana Marisa EM; Liaquat, Khalida K; Hoffman, Carol C CC; Krasner, Meagan R MR; Dodge, Whitney W; L Miller, Bruce B; Coppola, Giovanni G; Rankin, Katherine P KP; Yokoyama, Jennifer S JS; Higgins, Joseph J JJ
Publication Date: 2018

Variant appearance in text: GRN: 1477C>T; Arg493*
PubMed Link: 31031559
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic screen in a large series of patients with primary progressive aphasia.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Ramos, Eliana Marisa EM; Dokuru, Deepika Reddy DR; Van Berlo, Victoria V; Wojta, Kevin K; Wang, Qing Q; Huang, Alden Y AY; Miller, Zachary A ZA; Karydas, Anna M AM; Bigio, Eileen H EH; Rogalski, Emily E; Weintraub, Sandra S; Rader, Benjamin B; Miller, Bruce L BL; Gorno-Tempini, Maria Luisa ML; Mesulam, Marek-Marsel MM; Coppola, Giovanni G
Publication Date: 2019-04

Variant appearance in text: GRN: Arg493Ter
PubMed Link: 30599136
Variant Present in the following documents:
  • Main text
View BVdb publication page



Patient-derived frontotemporal lobar degeneration brain extracts induce formation and spreading of TDP-43 pathology in vivo.

Nature Communications
Porta, Sílvia S; Xu, Yan Y; Restrepo, Clark R CR; Kwong, Linda K LK; Zhang, Bin B; Brown, Hannah J HJ; Lee, Edward B EB; Trojanowski, John Q JQ; Lee, Virginia M-Y VM
Publication Date: 2018-10-11

Variant appearance in text: GRN: R493X
PubMed Link: 30310141
Variant Present in the following documents:
  • 41467_2018_6548_MOESM1_ESM.pdf
View BVdb publication page



Progranulin in the hematopoietic compartment protects mice from atherosclerosis.

Atherosclerosis
Nguyen, Andrew D AD; Nguyen, Thi A TA; Singh, Rajesh K RK; Eberlé, Delphine D; Zhang, Jiasheng J; Abate, Jess Porter JP; Robles, Anatalia A; Koliwad, Suneil S; Huang, Eric J EJ; Maxfield, Frederick R FR; Walther, Tobias C TC; Farese, Robert V RV
Publication Date: 2018-10

Variant appearance in text: GRN: R493X
PubMed Link: 30212683
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Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

The Lancet. Neurology
Pottier, Cyril C; Zhou, Xiaolai X; Perkerson, Ralph B RB; Baker, Matt M; Jenkins, Gregory D GD; Serie, Daniel J DJ; Ghidoni, Roberta R; Benussi, Luisa L; Binetti, Giuliano G; López de Munain, Adolfo A; Zulaica, Miren M; Moreno, Fermin F; Le Ber, Isabelle I; Pasquier, Florence F; Hannequin, Didier D; Sánchez-Valle, Raquel R; Antonell, Anna A; Lladó, Albert A; Parsons, Tammee M TM; Finch, NiCole A NA; Finger, Elizabeth C EC; Lippa, Carol F CF; Huey, Edward D ED; Neumann, Manuela M; Heutink, Peter P; Synofzik, Matthis M; Wilke, Carlo C; Rissman, Robert A RA; Slawek, Jaroslaw J; Sitek, Emilia E; Johannsen, Peter P; Nielsen, Jørgen E JE; Ren, Yingxue Y; van Blitterswijk, Marka M; DeJesus-Hernandez, Mariely M; Christopher, Elizabeth E; Murray, Melissa E ME; Bieniek, Kevin F KF; Evers, Bret M BM; Ferrari, Camilla C; Rollinson, Sara S; Richardson, Anna A; Scarpini, Elio E; Fumagalli, Giorgio G GG; Padovani, Alessandro A; Hardy, John J; Momeni, Parastoo P; Ferrari, Raffaele R; Frangipane, Francesca F; Maletta, Raffaele R; Anfossi, Maria M; Gallo, Maura M; Petrucelli, Leonard L; Suh, EunRan E; Lopez, Oscar L OL; Wong, Tsz H TH; van Rooij, Jeroen G J JGJ; Seelaar, Harro H; Mead, Simon S; Caselli, Richard J RJ; Reiman, Eric M EM; Noel Sabbagh, Marwan M; Kjolby, Mads M; Nykjaer, Anders A; Karydas, Anna M AM; Boxer, Adam L AL; Grinberg, Lea T LT; Grafman, Jordan J; Spina, Salvatore S; Oblak, Adrian A; Mesulam, M-Marsel MM; Weintraub, Sandra S; Geula, Changiz C; Hodges, John R JR; Piguet, Olivier O; Brooks, William S WS; Irwin, David J DJ; Trojanowski, John Q JQ; Lee, Edward B EB; Josephs, Keith A KA; Parisi, Joseph E JE; Ertekin-Taner, Nilüfer N; Knopman, David S DS; Nacmias, Benedetta B; Piaceri, Irene I; Bagnoli, Silvia S; Sorbi, Sandro S; Gearing, Marla M; Glass, Jonathan J; Beach, Thomas G TG; Black, Sandra E SE; Masellis, Mario M; Rogaeva, Ekaterina E; Vonsattel, Jean-Paul JP; Honig, Lawrence S LS; Kofler, Julia J; Bruni, Amalia C AC; Snowden, Julie J; Mann, David D; Pickering-Brown, Stuart S; Diehl-Schmid, Janine J; Winkelmann, Juliane J; Galimberti, Daniela D; Graff, Caroline C; Öijerstedt, Linn L; Troakes, Claire C; Al-Sarraj, Safa S; Cruchaga, Carlos C; Cairns, Nigel J NJ; Rohrer, Jonathan D JD; Halliday, Glenda M GM; Kwok, John B JB; van Swieten, John C JC; White, Charles L CL; Ghetti, Bernardino B; Murell, Jill R JR; Mackenzie, Ian R A IRA; Hsiung, Ging-Yuek R GR; Borroni, Barbara B; Rossi, Giacomina G; Tagliavini, Fabrizio F; Wszolek, Zbigniew K ZK; Petersen, Ronald C RC; Bigio, Eileen H EH; Grossman, Murray M; Van Deerlin, Vivianna M VM; Seeley, William W WW; Miller, Bruce L BL; Graff-Radford, Neill R NR; Boeve, Bradley F BF; Dickson, Dennis W DW; Biernacka, Joanna M JM; Rademakers, Rosa R
Publication Date: 2018-06

Variant appearance in text: GRN: Arg493*
PubMed Link: 29724592
Variant Present in the following documents:
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Clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 with improved proof-reading enhances homology-directed repair.

Nucleic Acids Research
Kato-Inui, Tomoko T; Takahashi, Gou G; Hsu, Szuyin S; Miyaoka, Yuichiro Y
Publication Date: 2018-05-18

Variant appearance in text: GRN: R493X
PubMed Link: 29672770
Variant Present in the following documents:
  • Main text
  • gky264_supp.pdf
  • gky264.pdf
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Murine knockin model for progranulin-deficient frontotemporal dementia with nonsense-mediated mRNA decay.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Nguyen, Andrew D AD; Nguyen, Thi A TA; Zhang, Jiasheng J; Devireddy, Swathi S; Zhou, Ping P; Karydas, Anna M AM; Xu, Xialian X; Miller, Bruce L BL; Rigo, Frank F; Ferguson, Shawn M SM; Huang, Eric J EJ; Walther, Tobias C TC; Farese, Robert V RV
Publication Date: 2018-03-20

Variant appearance in text: GRN: R493X
PubMed Link: 29511098
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Targeting Tyro3 ameliorates a model of PGRN-mutant FTLD-TDP via tau-mediated synaptic pathology.

Nature Communications
Fujita, Kyota K; Chen, Xigui X; Homma, Hidenori H; Tagawa, Kazuhiko K; Amano, Mutsuki M; Saito, Ayumu A; Imoto, Seiya S; Akatsu, Hiroyasu H; Hashizume, Yoshio Y; Kaibuchi, Kozo K; Miyano, Satoru S; Okazawa, Hitoshi H
Publication Date: 2018-01-30

Variant appearance in text: PGRN: R493X
PubMed Link: 29382817
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_2821.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: R493X
PubMed Link: 29146050
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Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.

Plos Genetics
Fernández, Maria Victoria MV; Kim, Jong Hun JH; Budde, John P JP; Black, Kathleen K; Medvedeva, Alexandra A; Saef, Ben B; Deming, Yuetiva Y; Del-Aguila, Jorge J; Ibañez, Laura L; Dube, Umber U; Harari, Oscar O; Norton, Joanne J; Chasse, Rachel R; Morris, John C JC; Goate, Alison A; , ; , ; Cruchaga, Carlos C
Publication Date: 2017-11

Variant appearance in text: GRN: Arg493*
PubMed Link: 29091718
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  • Main text
  • pgen.1007045.pdf
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Disease and Region Specificity of Granulin Immunopositivities in Alzheimer Disease and Frontotemporal Lobar Degeneration.

Journal Of Neuropathology And Experimental Neurology
Mao, Qinwen Q; Wang, Dongyang D; Li, Yanqing Y; Kohler, Missia M; Wilson, Jayson J; Parton, Zachary Z; Shmaltsuyeva, Bella B; Gursel, Demirkan D; Rademakers, Rosa R; Weintraub, Sandra S; Mesulam, Marek-Marsel MM; Xia, Haibin H; Bigio, Eileen H EH
Publication Date: 2017-11-01

Variant appearance in text: GRN: 1477C>T
PubMed Link: 29044416
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Lipidomic and Transcriptomic Basis of Lysosomal Dysfunction in Progranulin Deficiency.

Cell Reports
Evers, Bret M BM; Rodriguez-Navas, Carlos C; Tesla, Rachel J RJ; Prange-Kiel, Janine J; Wasser, Catherine R CR; Yoo, Kyoung Shin KS; McDonald, Jeffrey J; Cenik, Basar B; Ravenscroft, Thomas A TA; Plattner, Florian F; Rademakers, Rosa R; Yu, Gang G; White, Charles L CL; Herz, Joachim J
Publication Date: 2017-09-12

Variant appearance in text: GRN: Arg493*
PubMed Link: 28903038
Variant Present in the following documents:
  • NIHMS902297-supplement-1.pdf
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Heterogeneous ribonuclear protein E2 (hnRNP E2) is associated with TDP-43-immunoreactive neurites in Semantic Dementia but not with other TDP-43 pathological subtypes of Frontotemporal Lobar Degeneration.

Acta Neuropathologica Communications
Davidson, Yvonne S YS; Robinson, Andrew C AC; Flood, Louis L; Rollinson, Sara S; Benson, Bridget C BC; Asi, Yasmine T YT; Richardson, Anna A; Jones, Matthew M; Snowden, Julie S JS; Pickering-Brown, Stuart S; Lashley, Tammaryn T; Mann, David M A DMA
Publication Date: 2017-06-30

Variant appearance in text: GRN: R493X
PubMed Link: 28666471
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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: GRN: 1477C>T; Arg493Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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Accumulation of multiple neurodegenerative disease-related proteins in familial frontotemporal lobar degeneration associated with granulin mutation.

Scientific Reports
Hosokawa, Masato M; Kondo, Hiromi H; Serrano, Geidy E GE; Beach, Thomas G TG; Robinson, Andrew C AC; Mann, David M DM; Akiyama, Haruhiko H; Hasegawa, Masato M; Arai, Tetsuaki T
Publication Date: 2017-05-04

Variant appearance in text: GRN: 1477C>T
PubMed Link: 28473694
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_1587.pdf
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Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis.

Science Translational Medicine
Ward, Michael E ME; Chen, Robert R; Huang, Hsin-Yi HY; Ludwig, Connor C; Telpoukhovskaia, Maria M; Taubes, Ali A; Boudin, Helene H; Minami, Sakura S SS; Reichert, Meredith M; Albrecht, Philipp P; Gelfand, Jeffrey M JM; Cruz-Herranz, Andres A; Cordano, Christian C; Alavi, Marcel V MV; Leslie, Shannon S; Seeley, William W WW; Miller, Bruce L BL; Bigio, Eileen E; Mesulam, Marek-Marsel MM; Bogyo, Matthew S MS; Mackenzie, Ian R IR; Staropoli, John F JF; Cotman, Susan L SL; Huang, Eric J EJ; Gan, Li L; Green, Ari J AJ
Publication Date: 2017-04-12

Variant appearance in text: GRN: 1477C>T
PubMed Link: 28404863
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Recent advances in the molecular genetics of frontotemporal lobar degeneration.

Functional Neurology
Rainero, Innocenzo I; Rubino, E E; Michelerio, A A; D'Agata, F F; Gentile, Salvatore S; Pinessi, Lorenzo L
Publication Date: 2017

Variant appearance in text: GRN: R493X
PubMed Link: 28380318
Variant Present in the following documents:
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