Publications:

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: rs5848

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

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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: rs5848

PubMed Link: 36781744

Variant Present in the following documents:

• Main text
• 13311_2023_Article_1348.pdf

View BVdb publication page

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PGAGP: Predicting pathogenic genes based on adaptive network embedding algorithm.

Frontiers In Genetics

Zhang, Yan Y; Xiang, Ju J; Tang, Liang L; Yang, Jialiang J; Li, Jianming J

Publication Date: 2022

Variant appearance in text: rs5848

PubMed Link: 36744177

Variant Present in the following documents:

• Main text
• fgene-13-1087784.pdf

View BVdb publication page

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FinnGen provides genetic insights from a well-phenotyped isolated population.

Nature

Kurki, Mitja I MI; Karjalainen, Juha J; Palta, Priit P; Sipilä, Timo P TP; Kristiansson, Kati K; Donner, Kati M KM; Reeve, Mary P MP; Laivuori, Hannele H; Aavikko, Mervi M; Kaunisto, Mari A MA; Loukola, Anu A; Lahtela, Elisa E; Mattsson, Hannele H; Laiho, Päivi P; Della Briotta Parolo, Pietro P; Lehisto, Arto A AA; Kanai, Masahiro M; Mars, Nina N; Rämö, Joel J; Kiiskinen, Tuomo T; Heyne, Henrike O HO; Veerapen, Kumar K; Rüeger, Sina S; Lemmelä, Susanna S; Zhou, Wei W; Ruotsalainen, Sanni S; Pärn, Kalle K; Hiekkalinna, Tero T; Koskelainen, Sami S; Paajanen, Teemu T; Llorens, Vincent V; Gracia-Tabuenca, Javier J; Siirtola, Harri H; Reis, Kadri K; Elnahas, Abdelrahman G AG; Sun, Benjamin B; Foley, Christopher N CN; Aalto-Setälä, Katriina K; Alasoo, Kaur K; Arvas, Mikko M; Auro, Kirsi K; Biswas, Shameek S; Bizaki-Vallaskangas, Argyro A; Carpen, Olli O; Chen, Chia-Yen CY; Dada, Oluwaseun A OA; Ding, Zhihao Z; Ehm, Margaret G MG; Eklund, Kari K; Färkkilä, Martti M; Finucane, Hilary H; Ganna, Andrea A; Ghazal, Awaisa A; Graham, Robert R RR; Green, Eric M EM; Hakanen, Antti A; Hautalahti, Marco M; Hedman, Åsa K ÅK; Hiltunen, Mikko M; Hinttala, Reetta R; Hovatta, Iiris I; Hu, Xinli X; Huertas-Vazquez, Adriana A; Huilaja, Laura L; Hunkapiller, Julie J; Jacob, Howard H; Jensen, Jan-Nygaard JN; Joensuu, Heikki H; John, Sally S; Julkunen, Valtteri V; Jung, Marc M; Junttila, Juhani J; Kaarniranta, Kai K; Kähönen, Mika M; Kajanne, Risto R; Kallio, Lila L; Kälviäinen, Reetta R; Kaprio, Jaakko J; , ; Kerimov, Nurlan N; Kettunen, Johannes J; Kilpeläinen, Elina E; Kilpi, Terhi T; Klinger, Katherine K; Kosma, Veli-Matti VM; Kuopio, Teijo T; Kurra, Venla V; Laisk, Triin T; Laukkanen, Jari J; Lawless, Nathan N; Liu, Aoxing A; Longerich, Simonne S; Mägi, Reedik R; Mäkelä, Johanna J; Mäkitie, Antti A; Malarstig, Anders A; Mannermaa, Arto A; Maranville, Joseph J; Matakidou, Athena A; Meretoja, Tuomo T; Mozaffari, Sahar V SV; Niemi, Mari E K MEK; Niemi, Marianna M; Niiranen, Teemu T; O Donnell, Christopher J CJ; Obeidat, Ma En ME; Okafo, George G; Ollila, Hanna M HM; Palomäki, Antti A; Palotie, Tuula T; Partanen, Jukka J; Paul, Dirk S DS; Pelkonen, Margit M; Pendergrass, Rion K RK; Petrovski, Slavé S; Pitkäranta, Anne A; Platt, Adam A; Pulford, David D; Punkka, Eero E; Pussinen, Pirkko P; Raghavan, Neha N; Rahimov, Fedik F; Rajpal, Deepak D; Renaud, Nicole A NA; Riley-Gillis, Bridget B; Rodosthenous, Rodosthenis R; Saarentaus, Elmo E; Salminen, Aino A; Salminen, Eveliina E; Salomaa, Veikko V; Schleutker, Johanna J; Serpi, Raisa R; Shen, Huei-Yi HY; Siegel, Richard R; Silander, Kaisa K; Siltanen, Sanna S; Soini, Sirpa S; Soininen, Hilkka H; Sul, Jae Hoon JH; Tachmazidou, Ioanna I; Tasanen, Kaisa K; Tienari, Pentti P; Toppila-Salmi, Sanna S; Tukiainen, Taru T; Tuomi, Tiinamaija T; Turunen, Joni A JA; Ulirsch, Jacob C JC; Vaura, Felix F; Virolainen, Petri P; Waring, Jeffrey J; Waterworth, Dawn D; Yang, Robert R; Nelis, Mari M; Reigo, Anu A; Metspalu, Andres A; Milani, Lili L; Esko, Tõnu T; Fox, Caroline C; Havulinna, Aki S AS; Perola, Markus M; Ripatti, Samuli S; Jalanko, Anu A; Laitinen, Tarja T; Mäkelä, Tomi P TP; Plenge, Robert R; McCarthy, Mark M; Runz, Heiko H; Daly, Mark J MJ; Palotie, Aarno A

Publication Date: 2023-01

Variant appearance in text: rs5848

PubMed Link: 36653562

Variant Present in the following documents:

• 41586_2022_5473_MOESM4_ESM.xlsx, sheet 8

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Extracellular Chaperone Networks and the Export of J-Domain Proteins.

The Journal Of Biological Chemistry

Braun, Janice E A JEA

Publication Date: 2022-12-26

Variant appearance in text: rs5848

PubMed Link: 36581212

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Converging links between adult-onset neurodegenerative Alzheimer's disease and early life neurodegenerative neuronal ceroid lipofuscinosis?

Neural Regeneration Research

Klein, Marcel M; Hermey, Guido G

Publication Date: 2023-07

Variant appearance in text: rs5848

PubMed Link: 36571343

Variant Present in the following documents:

• NRR-18-1463.pdf

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The genetic regulation of protein expression in cerebrospinal fluid.

Embo Molecular Medicine

Hansson, Oskar O; Kumar, Atul A; Janelidze, Shorena S; Stomrud, Erik E; Insel, Philip S PS; Blennow, Kaj K; Zetterberg, Henrik H; Fauman, Eric E; Hedman, Åsa K ÅK; Nagle, Michael W MW; Whelan, Christopher D CD; Baird, Denis D; Mälarstig, Anders A; Mattsson-Carlgren, Niklas N

Publication Date: 2022-12-12

Variant appearance in text: rs5848

PubMed Link: 36504281

Variant Present in the following documents:

• Main text
• EMMM-15-e16359.pdf
• EMMM-15-e16359-s007.pdf

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs5848

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.

Nature Genetics

Holstege, Henne H; Hulsman, Marc M; Charbonnier, Camille C; Grenier-Boley, Benjamin B; Quenez, Olivier O; Grozeva, Detelina D; van Rooij, Jeroen G J JGJ; Sims, Rebecca R; Ahmad, Shahzad S; Amin, Najaf N; Norsworthy, Penny J PJ; Dols-Icardo, Oriol O; Hummerich, Holger H; Kawalia, Amit A; Amouyel, Philippe P; Beecham, Gary W GW; Berr, Claudine C; Bis, Joshua C JC; Boland, Anne A; Bossù, Paola P; Bouwman, Femke F; Bras, Jose J; Campion, Dominique D; Cochran, J Nicholas JN; Daniele, Antonio A; Dartigues, Jean-François JF; Debette, Stéphanie S; Deleuze, Jean-François JF; Denning, Nicola N; DeStefano, Anita L AL; Farrer, Lindsay A LA; Fernández, Maria Victoria MV; Fox, Nick C NC; Galimberti, Daniela D; Genin, Emmanuelle E; Gille, Johan J P JJP; Le Guen, Yann Y; Guerreiro, Rita R; Haines, Jonathan L JL; Holmes, Clive C; Ikram, M Arfan MA; Ikram, M Kamran MK; Jansen, Iris E IE; Kraaij, Robert R; Lathrop, Marc M; Lemstra, Afina W AW; Lleó, Alberto A; Luckcuck, Lauren L; Mannens, Marcel M A M MMAM; Marshall, Rachel R; Martin, Eden R ER; Masullo, Carlo C; Mayeux, Richard R; Mecocci, Patrizia P; Meggy, Alun A; Mol, Merel O MO; Morgan, Kevin K; Myers, Richard M RM; Nacmias, Benedetta B; Naj, Adam C AC; Napolioni, Valerio V; Pasquier, Florence F; Pastor, Pau P; Pericak-Vance, Margaret A MA; Raybould, Rachel R; Redon, Richard R; Reinders, Marcel J T MJT; Richard, Anne-Claire AC; Riedel-Heller, Steffi G SG; Rivadeneira, Fernando F; Rousseau, Stéphane S; Ryan, Natalie S NS; Saad, Salha S; Sanchez-Juan, Pascual P; Schellenberg, Gerard D GD; Scheltens, Philip P; Schott, Jonathan M JM; Seripa, Davide D; Seshadri, Sudha S; Sie, Daoud D; Sistermans, Erik A EA; Sorbi, Sandro S; van Spaendonk, Resie R; Spalletta, Gianfranco G; Tesi, Niccolo' N; Tijms, Betty B; Uitterlinden, André G AG; van der Lee, Sven J SJ; Visser, Pieter Jelle PJ; Wagner, Michael M; Wallon, David D; Wang, Li-San LS; Zarea, Aline A; Clarimon, Jordi J; van Swieten, John C JC; Greicius, Michael D MD; Yokoyama, Jennifer S JS; Cruchaga, Carlos C; Hardy, John J; Ramirez, Alfredo A; Mead, Simon S; van der Flier, Wiesje M WM; van Duijn, Cornelia M CM; Williams, Julie J; Nicolas, Gaël G; Bellenguez, Céline C; Lambert, Jean-Charles JC

Publication Date: 2022-12

Variant appearance in text: rs5848

PubMed Link: 36411364

Variant Present in the following documents:

• 41588_2022_1208_MOESM1_ESM.pdf

View BVdb publication page

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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: rs5848

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.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: rs5848

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: rs5848

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

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Multiple gene variants linked to Alzheimer's-type clinical dementia via GWAS are also associated with non-Alzheimer's neuropathologic entities.

Neurobiology Of Disease

Katsumata, Yuriko Y; Shade, Lincoln M LM; Hohman, Timothy J TJ; Schneider, Julie A JA; Bennett, David A DA; Farfel, Jose M JM; , ; Kukull, Walter A WA; Fardo, David W DW; Nelson, Peter T PT

Publication Date: 2022-11

Variant appearance in text: rs5848

PubMed Link: 36191742

Variant Present in the following documents:

• Main text
• nihms-1846498.pdf

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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: rs5848

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

View BVdb publication page

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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: rs5848

PubMed Link: 36071893

Variant Present in the following documents:

• Main text
• fneur-13-675301.pdf

View BVdb publication page

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Generation and Characterization of Novel iPSC Lines from a Portuguese Family Bearing Heterozygous and Homozygous GRN Mutations.

Biomedicines

Oliveira, Ana Rafaela AR; Martins, Solange S; Cammarata, Giuseppe G; Martins, Mariana M; Cardoso, Ana Maria AM; Almeida, Maria Rosário MR; do Carmo Macário, Maria M; Santana, Isabel I; Peça, João J; Cardoso, Ana Luísa AL

Publication Date: 2022-08-06

Variant appearance in text: rs5848

PubMed Link: 36009452

Variant Present in the following documents:

• Main text
• biomedicines-10-01905.pdf

View BVdb publication page

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Microglial amyloid beta clearance is driven by PIEZO1 channels.

Journal Of Neuroinflammation

Jäntti, Henna H; Sitnikova, Valeriia V; Ishchenko, Yevheniia Y; Shakirzyanova, Anastasia A; Giudice, Luca L; Ugidos, Irene F IF; Gómez-Budia, Mireia M; Korvenlaita, Nea N; Ohtonen, Sohvi S; Belaya, Irina I; Fazaludeen, Feroze F; Mikhailov, Nikita N; Gotkiewicz, Maria M; Ketola, Kirsi K; Lehtonen, Šárka Š; Koistinaho, Jari J; Kanninen, Katja M KM; Hernández, Damian D; Pébay, Alice A; Giugno, Rosalba R; Korhonen, Paula P; Giniatullin, Rashid R; Malm, Tarja T

Publication Date: 2022-06-15

Variant appearance in text: rs5848

PubMed Link: 35706029

Variant Present in the following documents:

• 12974_2022_Article_2486.pdf

View BVdb publication page

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Analysis of Genetic Association Between ABCA7 Polymorphism and Alzheimer's Disease Risk in the Southern Chinese Population.

Frontiers In Aging Neuroscience

Wang, Lijun L; Jiao, Yang Y; Zhao, Aonan A; Xu, Xiaomeng X; Ye, Guanyu G; Zhang, Yichi Y; Wang, Ying Y; Deng, Yulei Y; Xu, Wei W; Liu, Jun J

Publication Date: 2022

Variant appearance in text: rs5848

PubMed Link: 35693347

Variant Present in the following documents:

• Main text
• fnagi-14-819499.pdf

View BVdb publication page

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New insights into the genetic etiology of Alzheimer's disease and related dementias.

Nature Genetics

Bellenguez, Céline C; Küçükali, Fahri F; Jansen, Iris E IE; Kleineidam, Luca L; Moreno-Grau, Sonia S; Amin, Najaf N; Naj, Adam C AC; Campos-Martin, Rafael R; Grenier-Boley, Benjamin B; Andrade, Victor V; Holmans, Peter A PA; Boland, Anne A; Damotte, Vincent V; van der Lee, Sven J SJ; Costa, Marcos R MR; Kuulasmaa, Teemu T; Yang, Qiong Q; de Rojas, Itziar I; Bis, Joshua C JC; Yaqub, Amber A; Prokic, Ivana I; Chapuis, Julien J; Ahmad, Shahzad S; Giedraitis, Vilmantas V; Aarsland, Dag D; Garcia-Gonzalez, Pablo P; Abdelnour, Carla C; Alarcón-Martín, Emilio E; Alcolea, Daniel D; Alegret, Montserrat M; Alvarez, Ignacio I; Álvarez, Victoria V; Armstrong, Nicola J NJ; Tsolaki, Anthoula A; Antúnez, Carmen C; Appollonio, Ildebrando I; Arcaro, Marina M; Archetti, Silvana S; Pastor, Alfonso Arias AA; Arosio, Beatrice B; Athanasiu, Lavinia L; Bailly, Henri H; Banaj, Nerisa N; Baquero, Miquel M; Barral, Sandra S; Beiser, Alexa A; Pastor, Ana Belén AB; Below, Jennifer E JE; Benchek, Penelope P; Benussi, Luisa L; Berr, Claudine C; Besse, Céline C; Bessi, Valentina V; Binetti, Giuliano G; Bizarro, Alessandra A; Blesa, Rafael R; Boada, Mercè M; Boerwinkle, Eric E; Borroni, Barbara B; Boschi, Silvia S; Bossù, Paola P; Bråthen, Geir G; Bressler, Jan J; Bresner, Catherine C; Brodaty, Henry H; Brookes, Keeley J KJ; Brusco, Luis Ignacio LI; Buiza-Rueda, Dolores D; Bûrger, Katharina K; Burholt, Vanessa V; Bush, William S WS; Calero, Miguel M; Cantwell, Laura B LB; Chene, Geneviève G; Chung, Jaeyoon J; Cuccaro, Michael L ML; Carracedo, Ángel Á; Cecchetti, Roberta R; Cervera-Carles, Laura L; Charbonnier, Camille C; Chen, Hung-Hsin HH; Chillotti, Caterina C; Ciccone, Simona S; Claassen, Jurgen A H R JAHR; Clark, Christopher C; Conti, Elisa E; Corma-Gómez, Anaïs A; Costantini, Emanuele E; Custodero, Carlo C; Daian, Delphine D; Dalmasso, Maria Carolina MC; Daniele, Antonio A; Dardiotis, Efthimios E; Dartigues, Jean-François JF; de Deyn, Peter Paul PP; de Paiva Lopes, Katia K; de Witte, Lot D LD; Debette, Stéphanie S; Deckert, Jürgen J; Del Ser, Teodoro T; Denning, Nicola N; DeStefano, Anita A; Dichgans, Martin M; Diehl-Schmid, Janine J; Diez-Fairen, Mónica M; Rossi, Paolo Dionigi PD; Djurovic, Srdjan S; Duron, Emmanuelle E; Düzel, Emrah E; Dufouil, Carole C; Eiriksdottir, Gudny G; Engelborghs, Sebastiaan S; Escott-Price, Valentina V; Espinosa, Ana A; Ewers, Michael M; Faber, Kelley M KM; Fabrizio, Tagliavini T; Nielsen, Sune Fallgaard SF; Fardo, David W DW; Farotti, Lucia L; Fenoglio, Chiara C; Fernández-Fuertes, Marta M; Ferrari, Raffaele R; Ferreira, Catarina B CB; Ferri, Evelyn E; Fin, Bertrand B; Fischer, Peter P; Fladby, Tormod T; Fließbach, Klaus K; Fongang, Bernard B; Fornage, Myriam M; Fortea, Juan J; Foroud, Tatiana M TM; Fostinelli, Silvia S; Fox, Nick C NC; Franco-Macías, Emlio E; Bullido, María J MJ; Frank-García, Ana A; Froelich, Lutz L; Fulton-Howard, Brian B; Galimberti, Daniela D; García-Alberca, Jose Maria JM; García-González, Pablo P; Garcia-Madrona, Sebastian S; Garcia-Ribas, Guillermo G; Ghidoni, Roberta R; Giegling, Ina I; Giorgio, Giaccone G; Goate, Alison M AM; Goldhardt, Oliver O; Gomez-Fonseca, Duber D; González-Pérez, Antonio A; Graff, Caroline C; Grande, Giulia G; Green, Emma E; Grimmer, Timo T; Grünblatt, Edna E; Grunin, Michelle M; Gudnason, Vilmundur V; Guetta-Baranes, Tamar T; Haapasalo, Annakaisa A; Hadjigeorgiou, Georgios G; Haines, Jonathan L JL; Hamilton-Nelson, Kara L KL; Hampel, Harald H; Hanon, Olivier O; Hardy, John J; Hartmann, Annette M AM; Hausner, Lucrezia L; Harwood, Janet J; Heilmann-Heimbach, Stefanie S; Helisalmi, Seppo S; Heneka, Michael T MT; Hernández, Isabel I; Herrmann, Martin J MJ; Hoffmann, Per P; Holmes, Clive C; Holstege, Henne H; Vilas, Raquel Huerto RH; Hulsman, Marc M; Humphrey, Jack J; Biessels, Geert Jan GJ; Jian, Xueqiu X; Johansson, Charlotte C; Jun, Gyungah R GR; Kastumata, Yuriko Y; Kauwe, John J; Kehoe, Patrick G PG; Kilander, Lena L; Ståhlbom, Anne Kinhult AK; Kivipelto, Miia M; Koivisto, Anne A; Kornhuber, Johannes J; Kosmidis, Mary H MH; Kukull, Walter A WA; Kuksa, Pavel P PP; Kunkle, Brian W BW; Kuzma, Amanda B AB; Lage, Carmen C; Laukka, Erika J EJ; Launer, Lenore L; Lauria, Alessandra A; Lee, Chien-Yueh CY; Lehtisalo, Jenni J; Lerch, Ondrej O; Lleó, Alberto A; Longstreth, William W; Lopez, Oscar O; de Munain, Adolfo Lopez AL; Love, Seth S; Löwemark, Malin M; Luckcuck, Lauren L; Lunetta, Kathryn L KL; Ma, Yiyi Y; Macías, Juan J; MacLeod, Catherine A CA; Maier, Wolfgang W; Mangialasche, Francesca F; Spallazzi, Marco M; Marquié, Marta M; Marshall, Rachel R; Martin, Eden R ER; Montes, Angel Martín AM; Rodríguez, Carmen Martínez CM; Masullo, Carlo C; Mayeux, Richard R; Mead, Simon S; Mecocci, Patrizia P; Medina, Miguel M; Meggy, Alun A; Mehrabian, Shima S; Mendoza, Silvia S; Menéndez-González, Manuel M; Mir, Pablo P; Moebus, Susanne S; Mol, Merel M; Molina-Porcel, Laura L; Montrreal, Laura L; Morelli, Laura L; Moreno, Fermin F; Morgan, Kevin K; Mosley, Thomas T; Nöthen, Markus M MM; Muchnik, Carolina C; Mukherjee, Shubhabrata S; Nacmias, Benedetta B; Ngandu, Tiia T; Nicolas, Gael G; Nordestgaard, Børge G BG; Olaso, Robert R; Orellana, Adelina A; Orsini, Michela M; Ortega, Gemma G; Padovani, Alessandro A; Paolo, Caffarra C; Papenberg, Goran G; Parnetti, Lucilla L; Pasquier, Florence F; Pastor, Pau P; Peloso, Gina G; Pérez-Cordón, Alba A; Pérez-Tur, Jordi J; Pericard, Pierre P; Peters, Oliver O; Pijnenburg, Yolande A L YAL; Pineda, Juan A JA; Piñol-Ripoll, Gerard G; Pisanu, Claudia C; Polak, Thomas T; Popp, Julius J; Posthuma, Danielle D; Priller, Josef J; Puerta, Raquel R; Quenez, Olivier O; Quintela, Inés I; Thomassen, Jesper Qvist JQ; Rábano, Alberto A; Rainero, Innocenzo I; Rajabli, Farid F; Ramakers, Inez I; Real, Luis M LM; Reinders, Marcel J T MJT; Reitz, Christiane C; Reyes-Dumeyer, Dolly D; Ridge, Perry P; Riedel-Heller, Steffi S; Riederer, Peter P; Roberto, Natalia N; Rodriguez-Rodriguez, Eloy E; Rongve, Arvid A; Allende, Irene Rosas IR; Rosende-Roca, Maitée M; Royo, Jose Luis JL; Rubino, Elisa E; Rujescu, Dan D; Sáez, María Eugenia ME; Sakka, Paraskevi P; Saltvedt, Ingvild I; Sanabria, Ángela Á; Sánchez-Arjona, María Bernal MB; Sanchez-Garcia, Florentino F; Juan, Pascual Sánchez PS; Sánchez-Valle, Raquel R; Sando, Sigrid B SB; Sarnowski, Chloé C; Satizabal, Claudia L CL; Scamosci, Michela M; Scarmeas, Nikolaos N; Scarpini, Elio E; Scheltens, Philip P; Scherbaum, Norbert N; Scherer, Martin M; Schmid, Matthias M; Schneider, Anja A; Schott, Jonathan M JM; Selbæk, Geir G; Seripa, Davide D; Serrano, Manuel M; Sha, Jin J; Shadrin, Alexey A AA; Skrobot, Olivia O; Slifer, Susan S; Snijders, Gijsje J L GJL; Soininen, Hilkka H; Solfrizzi, Vincenzo V; Solomon, Alina A; Song, Yeunjoo Y; Sorbi, Sandro S; Sotolongo-Grau, Oscar O; Spalletta, Gianfranco G; Spottke, Annika A; Squassina, Alessio A; Stordal, Eystein E; Tartan, Juan Pablo JP; Tárraga, Lluís L; Tesí, Niccolo N; Thalamuthu, Anbupalam A; Thomas, Tegos T; Tosto, Giuseppe G; Traykov, Latchezar L; Tremolizzo, Lucio L; Tybjærg-Hansen, Anne A; Uitterlinden, Andre A; Ullgren, Abbe A; Ulstein, Ingun I; Valero, Sergi S; Valladares, Otto O; Broeckhoven, Christine Van CV; Vance, Jeffery J; Vardarajan, Badri N BN; van der Lugt, Aad A; Dongen, Jasper Van JV; van Rooij, Jeroen J; van Swieten, John J; Vandenberghe, Rik R; Verhey, Frans F; Vidal, Jean-Sébastien JS; Vogelgsang, Jonathan J; Vyhnalek, Martin M; Wagner, Michael M; Wallon, David D; Wang, Li-San LS; Wang, Ruiqi R; Weinhold, Leonie L; Wiltfang, Jens J; Windle, Gill G; Woods, Bob B; Yannakoulia, Mary M; Zare, Habil H; Zhao, Yi Y; Zhang, Xiaoling X; Zhu, Congcong C; Zulaica, Miren M; , ; , ; , ; , ; , ; , ; , ; , ; , ; Farrer, Lindsay A LA; Psaty, Bruce M BM; Ghanbari, Mohsen M; Raj, Towfique T; Sachdev, Perminder P; Mather, Karen K; Jessen, Frank F; Ikram, M Arfan MA; de Mendonça, Alexandre A; Hort, Jakub J; Tsolaki, Magda M; Pericak-Vance, Margaret A MA; Amouyel, Philippe P; Williams, Julie J; Frikke-Schmidt, Ruth R; Clarimon, Jordi J; Deleuze, Jean-François JF; Rossi, Giacomina G; Seshadri, Sudha S; Andreassen, Ole A OA; Ingelsson, Martin M; Hiltunen, Mikko M; Sleegers, Kristel K; Schellenberg, Gerard D GD; van Duijn, Cornelia M CM; Sims, Rebecca R; van der Flier, Wiesje M WM; Ruiz, Agustín A; Ramirez, Alfredo A; Lambert, Jean-Charles JC

Publication Date: 2022-04

Variant appearance in text: rs5848

PubMed Link: 35379992

Variant Present in the following documents:

• Main text
• 41588_2022_Article_1024.pdf

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Patterns of amygdala region pathology in LATE-NC: subtypes that differ with regard to TDP-43 histopathology, genetic risk factors, and comorbid pathologies.

Acta Neuropathologica

Cykowski, Matthew D MD; Arumanayagam, Anithachristy S AS; Powell, Suzanne Z SZ; Rivera, Andreana L AL; Abner, Erin L EL; Roman, Gustavo C GC; Masdeu, Joseph C JC; Nelson, Peter T PT

Publication Date: 2022-05

Variant appearance in text: rs5848

PubMed Link: 35366087

Variant Present in the following documents:

• Main text
• 401_2022_Article_2416.pdf

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Progranulin mutations in clinical and neuropathological Alzheimer's disease.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association

Vardarajan, Badri N BN; Reyes-Dumeyer, Dolly D; Piriz, Angel L AL; Lantigua, Rafael A RA; Medrano, Martin M; Rivera, Diones D; Jiménez-Velázquez, Ivonne Z IZ; Martin, Eden E; Pericak-Vance, Margaret A MA; Bush, William W; Farrer, Lindsay L; Haines, Jonathan L JL; Wang, Li-San LS; Leung, Yuk Yee YY; Schellenberg, Gerard G; Kukull, Walter W; De Jager, Philip P; Bennett, David A DA; Schneider, Julie A JA; , ; Mayeux, Richard R

Publication Date: 2022-02-09

Variant appearance in text: rs5848

PubMed Link: 35258170

Variant Present in the following documents:

• Main text
• ALZ-18-2458.pdf

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Inflammation and immune dysfunction in Parkinson disease.

Nature Reviews. Immunology

Tansey, Malú Gámez MG; Wallings, Rebecca L RL; Houser, Madelyn C MC; Herrick, Mary K MK; Keating, Cody E CE; Joers, Valerie V

Publication Date: 2022-11

Variant appearance in text: rs5848

PubMed Link: 35246670

Variant Present in the following documents:

• Main text
• 41577_2022_Article_684.pdf

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Serum progranulin is not associated with rs5848 polymorphism in Korean patients with neurodegenerative diseases.

Plos One

Jung, Na-Yeon NY; Kim, Hyang-Sook HS; Kim, Eun Soo ES; Jeon, Sumin S; Lee, Myung Jun MJ; Pak, Kyoungjune K; Lee, Jae-Hyeok JH; Lee, Young Min YM; Lee, Kangyoon K; Shin, Jin-Hong JH; Ko, Jun Kyeung JK; Lee, Jae Meen JM; Yoon, Jin A JA; Hwang, Chungsu C; Choi, Kyung-Un KU; Huh, Gi Yeong GY; Kim, Young-Eun YE; Kim, Eun-Joo EJ

Publication Date: 2022

Variant appearance in text: rs5848

PubMed Link: 35085262

Variant Present in the following documents:

• Main text
• pone.0261007.s003.xlsx, sheet 1
• pone.0261007.pdf

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Serum progranulin is not associated with rs5848 polymorphism in Korean patients with neurodegenerative diseases.

Plos One

Jung, Na-Yeon NY; Kim, Hyang-Sook HS; Kim, Eun Soo ES; Jeon, Sumin S; Lee, Myung Jun MJ; Pak, Kyoungjune K; Lee, Jae-Hyeok JH; Lee, Young Min YM; Lee, Kangyoon K; Shin, Jin-Hong JH; Ko, Jun Kyeung JK; Lee, Jae Meen JM; Yoon, Jin A JA; Hwang, Chungsu C; Choi, Kyung-Un KU; Huh, Gi Yeong GY; Kim, Young-Eun YE; Kim, Eun-Joo EJ

Publication Date: 2022

Variant appearance in text: rs5848

PubMed Link: 35085262

Variant Present in the following documents:

• Main text
• pone.0261007.s003.xlsx, sheet 1
• pone.0261007.pdf

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Individual Oligogenic Background in p.D91A-SOD1 Amyotrophic Lateral Sclerosis Patients.

Genes

Gentile, Giulia G; Perrone, Benedetta B; Morello, Giovanna G; Simone, Isabella Laura IL; Andò, Sebastiano S; Cavallaro, Sebastiano S; Conforti, Francesca Luisa FL

Publication Date: 2021-11-23

Variant appearance in text: rs5848

PubMed Link: 34946792

Variant Present in the following documents:

• Main text
• genes-12-01843.pdf

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Individual Oligogenic Background in p.D91A-SOD1 Amyotrophic Lateral Sclerosis Patients.

Genes

Gentile, Giulia G; Perrone, Benedetta B; Morello, Giovanna G; Simone, Isabella Laura IL; Andò, Sebastiano S; Cavallaro, Sebastiano S; Conforti, Francesca Luisa FL

Publication Date: 2021-11-23

Variant appearance in text: rs5848

PubMed Link: 34946792

Variant Present in the following documents:

• Main text
• genes-12-01843.pdf

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GenoRisk: A polygenic risk score for Alzheimer's disease.

Alzheimer'S & Dementia (New York, N. Y.)

Dickson, Samuel P SP; Hendrix, Suzanne B SB; Brown, Bruce L BL; Ridge, Perry G PG; Nicodemus-Johnson, Jessie J; Hardy, Marci L ML; McKeany, Allison M AM; Booth, Steven B SB; Fortna, Ryan R RR; Kauwe, John S K JSK; ,

Publication Date: 2021

Variant appearance in text: rs5848

PubMed Link: 34621978

Variant Present in the following documents:

• Main text
• TRC2-7-e12211.pdf

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Analysis of genes (TMEM106B, GRN, ABCC9, KCNMB2, and APOE) implicated in risk for LATE-NC and hippocampal sclerosis provides pathogenetic insights: a retrospective genetic association study.

Acta Neuropathologica Communications

Dugan, Adam J AJ; Nelson, Peter T PT; Katsumata, Yuriko Y; Shade, Lincoln M P LMP; Boehme, Kevin L KL; Teylan, Merilee A MA; Cykowski, Matthew D MD; Mukherjee, Shubhabrata S; Kauwe, John S K JSK; Hohman, Timothy J TJ; Schneider, Julie A JA; , ; Fardo, David W DW

Publication Date: 2021-09-15

Variant appearance in text: rs5848

PubMed Link: 34526147

Variant Present in the following documents:

• Main text
• 40478_2021_Article_1250.pdf

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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: rs5848

PubMed Link: 34366786

Variant Present in the following documents:

• Main text
• fnmol-14-713031.pdf

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Single-cell multimodal analysis in a case with reduced penetrance of Progranulin-Frontotemporal Dementia.

Acta Neuropathologica Communications

Natarajan, Karthick K; Eisfeldt, Jesper J; Hammond, Maria M; Laffita-Mesa, José Miguel JM; Patra, Kalicharan K; Khoshnood, Behzad B; Öijerstedt, Linn L; Graff, Caroline C

Publication Date: 2021-08-03

Variant appearance in text: rs5848

PubMed Link: 34344473

Variant Present in the following documents:

• Main text

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Delivering progranulin to neuronal lysosomes protects against excitotoxicity.

The Journal Of Biological Chemistry

Davis, Skylar E SE; Roth, Jonathan R JR; Aljabi, Qays Q; Hakim, Ahmad R AR; Savell, Katherine E KE; Day, Jeremy J JJ; Arrant, Andrew E AE

Publication Date: 2021-09

Variant appearance in text: rs5848

PubMed Link: 34298019

Variant Present in the following documents:

• Main text
• main.pdf

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Neurodegenerative Disease Risk in Carriers of Autosomal Recessive Disease.

Frontiers In Neurology

Vieira, Sophia R L SRL; Morris, Huw R HR

Publication Date: 2021

Variant appearance in text: rs5848

PubMed Link: 34149605

Variant Present in the following documents:

• Main text

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A multifaceted role of progranulin in regulating amyloid-beta dynamics and responses.

Life Science Alliance

Du, Huan H; Wong, Man Ying MY; Zhang, Tingting T; Santos, Mariela Nunez MN; Hsu, Charlene C; Zhang, Junke J; Yu, Haiyuan H; Luo, Wenjie W; Hu, Fenghua F

Publication Date: 2021-07

Variant appearance in text: rs5848

PubMed Link: 34103390

Variant Present in the following documents:

• LSA-2020-00874.pdf

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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: rs5848

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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Nucleocytoplasmic Transport: Regulatory Mechanisms and the Implications in Neurodegeneration.

International Journal Of Molecular Sciences

Ding, Baojin B; Sepehrimanesh, Masood M

Publication Date: 2021-04-17

Variant appearance in text: rs5848

PubMed Link: 33920577

Variant Present in the following documents:

• Main text

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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: rs5848

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Blood Biomarkers in Frontotemporal Dementia: Review and Meta-Analysis.

Brain Sciences

Ntymenou, Sofia S; Tsantzali, Ioanna I; Kalamatianos, Theodosis T; Voumvourakis, Konstantinos I KI; Kapaki, Elisabeth E; Tsivgoulis, Georgios G; Stranjalis, George G; Paraskevas, George P GP

Publication Date: 2021-02-15

Variant appearance in text: rs5848

PubMed Link: 33672008

Variant Present in the following documents:

• Main text

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Targeting Microglia-Synapse Interactions in Alzheimer's Disease.

International Journal Of Molecular Sciences

Piccioni, Gaia G; Mango, Dalila D; Saidi, Amira A; Corbo, Massimo M; Nisticò, Robert R

Publication Date: 2021-02-26

Variant appearance in text: rs5848

PubMed Link: 33652870

Variant Present in the following documents:

• Main text
• ijms-22-02342.pdf

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Tau in the Pathophysiology of Parkinson's Disease.

Journal Of Molecular Neuroscience : Mn

Pan, Lina L; Meng, Lanxia L; He, Mingyang M; Zhang, Zhentao Z

Publication Date: 2021-11

Variant appearance in text: rs5848

PubMed Link: 33459970

Variant Present in the following documents:

• 12031_2020_Article_1776.pdf

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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: rs5848

PubMed Link: 33433878

Variant Present in the following documents:

• Main text

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Identifying drug targets for neurological and psychiatric disease via genetics and the brain transcriptome.

Plos Genetics

Baird, Denis A DA; Liu, Jimmy Z JZ; Zheng, Jie J; Sieberts, Solveig K SK; Perumal, Thanneer T; Elsworth, Benjamin B; Richardson, Tom G TG; Chen, Chia-Yen CY; Carrasquillo, Minerva M MM; Allen, Mariet M; Reddy, Joseph S JS; De Jager, Philip L PL; Ertekin-Taner, Nilufer N; Mangravite, Lara M LM; Logsdon, Ben B; Estrada, Karol K; Haycock, Philip C PC; Hemani, Gibran G; Runz, Heiko H; Smith, George Davey GD; Gaunt, Tom R TR; ,

Publication Date: 2021-01

Variant appearance in text: rs5848

PubMed Link: 33417599

Variant Present in the following documents:

• Main text
• pgen.1009224.pdf

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Secreted Chaperones in Neurodegeneration.

Frontiers In Aging Neuroscience

Chaplot, Kriti K; Jarvela, Timothy S TS; Lindberg, Iris I

Publication Date: 2020

Variant appearance in text: rs5848

PubMed Link: 33192447

Variant Present in the following documents:

• Main text

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The association of clinical phenotypes to known AD/FTD genetic risk loci and their inter-relationship.

Plos One

Li, Qingqin S QS; Tian, Chao C; , ; Hinds, David D; Seabrook, Guy R GR

Publication Date: 2020

Variant appearance in text: rs5848

PubMed Link: 33152005

Variant Present in the following documents:

• Main text

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The FAM171A2 gene is a key regulator of progranulin expression and modifies the risk of multiple neurodegenerative diseases.

Science Advances

Xu, Wei W; Han, Si-Da SD; Zhang, Can C; Li, Jie-Qiong JQ; Wang, Yan-Jiang YJ; Tan, Chen-Chen CC; Li, Hong-Qi HQ; Dong, Qiang Q; Mei, Cui C; Tan, Lan L; Yu, Jin-Tai JT

Publication Date: 2020-10

Variant appearance in text: rs5848

PubMed Link: 33087363

Variant Present in the following documents:

• Main text
• abb3063.pdf

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The FAM171A2 gene is a key regulator of progranulin expression and modifies the risk of multiple neurodegenerative diseases.

Science Advances

Xu, Wei W; Han, Si-Da SD; Zhang, Can C; Li, Jie-Qiong JQ; Wang, Yan-Jiang YJ; Tan, Chen-Chen CC; Li, Hong-Qi HQ; Dong, Qiang Q; Mei, Cui C; Tan, Lan L; Yu, Jin-Tai JT

Publication Date: 2020-10

Variant appearance in text: rs5848

PubMed Link: 33087363

Variant Present in the following documents:

• Main text
• abb3063.pdf

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Limbic-predominant age-related TDP-43 encephalopathy differs from frontotemporal lobar degeneration.

Brain : A Journal Of Neurology

Robinson, John L JL; Porta, Sílvia S; Garrett, Filip G FG; Zhang, Panpan P; Xie, Sharon X SX; Suh, EunRan E; Van Deerlin, Vivianna M VM; Abner, Erin L EL; Jicha, Gregory A GA; Barber, Justin M JM; Lee, Virginia M-Y VM; Lee, Edward B EB; Trojanowski, John Q JQ; Nelson, Peter T PT

Publication Date: 2020-09-01

Variant appearance in text: rs5848

PubMed Link: 32830216

Variant Present in the following documents:

• Main text

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Distinct clinicopathologic clusters of persons with TDP-43 proteinopathy.

Acta Neuropathologica

Katsumata, Yuriko Y; Abner, Erin L EL; Karanth, Shama S; Teylan, Merilee A MA; Mock, Charles N CN; Cykowski, Matthew D MD; Lee, Edward B EB; Boehme, Kevin L KL; Mukherjee, Shubhabrata S; Kauwe, John S K JSK; Kryscio, Richard J RJ; Schmitt, Frederick A FA; Fardo, David W DW; Nelson, Peter T PT

Publication Date: 2020-11

Variant appearance in text: rs5848

PubMed Link: 32797255

Variant Present in the following documents:

• Main text

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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: rs5848

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: rs5848

PubMed Link: 32526197

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs5848

PubMed Link: 31962288

Variant Present in the following documents:

• Main text

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Friend, Foe or Both? Immune Activity in Alzheimer's Disease.

Frontiers In Aging Neuroscience

Frost, Georgia R GR; Jonas, Lauren A LA; Li, Yue-Ming YM

Publication Date: 2019

Variant appearance in text: rs5848

PubMed Link: 31920620

Variant Present in the following documents:

• Main text

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Characterization of lysosomal proteins Progranulin and Prosaposin and their interactions in Alzheimer's disease and aged brains: increased levels correlate with neuropathology.

Acta Neuropathologica Communications

Mendsaikhan, Anarmaa A; Tooyama, Ikuo I; Bellier, Jean-Pierre JP; Serrano, Geidy E GE; Sue, Lucia I LI; Lue, Lih-Fen LF; Beach, Thomas G TG; Walker, Douglas G DG

Publication Date: 2019-12-21

Variant appearance in text: rs5848

PubMed Link: 31864418

Variant Present in the following documents:

• Main text

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Novel Results and Concepts Emerging From Lipid Cell Biology Relevant to Degenerative Brain Aging and Disease.

Frontiers In Neurology

Isacson, Ole O; Brekk, Oeystein R OR; Hallett, Penelope J PJ

Publication Date: 2019

Variant appearance in text: rs5848

PubMed Link: 31649605

Variant Present in the following documents:

• fneur-10-01053.pdf

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: rs5848

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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The longitudinal evaluation of familial frontotemporal dementia subjects protocol: Framework and methodology.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association

Boeve, Bradley B; Bove, Jessica J; Brannelly, Patrick P; Brushaber, Danielle D; Coppola, Giovanni G; Dever, Rielly R; Dheel, Christina C; Dickerson, Bradford B; Dickinson, Susan S; Faber, Kelley K; Fields, Julie J; Fong, Jamie J; Foroud, Tatiana T; Forsberg, Leah L; Gavrilova, Ralitza R; Gearhart, Debra D; Ghoshal, Nupur N; Goldman, Jennifer J; Graff-Radford, Jonathan J; Graff-Radford, Neill N; Grossman, Murray M; Haley, Dana D; Heuer, Hilary H; Hsiung, Ging-Yuek Robin GR; Huey, Edward E; Irwin, David D; Jones, David D; Jones, Lynne L; Kantarci, Kejal K; Karydas, Anna A; Knopman, David D; Kornak, John J; Kraft, Ruth R; Kramer, Joel J; Kremers, Walter W; Kukull, Walter W; Lapid, Maria M; Lucente, Diane D; Mackenzie, Ian I; Manoochehri, Masood M; McGinnis, Scott S; Miller, Bruce B; Pearlman, Rodney R; Petrucelli, Len L; Potter, Madeline M; Rademakers, Rosa R; Ramos, Eliana Marisa EM; Rankin, Kate K; Rascovsky, Katya K; Sengdy, Pheth P; Shaw, Les L; Syrjanen, Jeremy J; Tatton, Nadine N; Taylor, Joanne J; Toga, Arthur A; Trojanowski, John J; Weintraub, Sandra S; Wong, Bonnie B; Wszolek, Zbigniew Z; Boxer, Adam A; Rosen, Howard H; ,

Publication Date: 2020-01

Variant appearance in text: rs5848

PubMed Link: 31636026

Variant Present in the following documents:

• Main text

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Introducing the first whole genomes of nationals from the United Arab Emirates.

Scientific Reports

AlSafar, Habiba S HS; Al-Ali, Mariam M; Elbait, Gihan Daw GD; Al-Maini, Mustafa H MH; Ruta, Dymitr D; Peramo, Braulio B; Henschel, Andreas A; Tay, Guan K GK

Publication Date: 2019-10-11

Variant appearance in text: rs5848

PubMed Link: 31604968

Variant Present in the following documents:

• 41598_2019_50876_MOESM1_ESM.xlsx, sheet 1

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: rs5848

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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