Publications:

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A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.

Genome Medicine

Acosta-Uribe, Juliana J; Aguillón, David D; Cochran, J Nicholas JN; Giraldo, Margarita M; Madrigal, Lucía L; Killingsworth, Bradley W BW; Singhal, Rijul R; Labib, Sarah S; Alzate, Diana D; Velilla, Lina L; Moreno, Sonia S; García, Gloria P GP; Saldarriaga, Amanda A; Piedrahita, Francisco F; Hincapié, Liliana L; López, Hugo E HE; Perumal, Nithesh N; Morelo, Leonilde L; Vallejo, Dionis D; Solano, Juan Marcos JM; Reiman, Eric M EM; Surace, Ezequiel I EI; Itzcovich, Tatiana T; Allegri, Ricardo R; Sánchez-Valle, Raquel R; Villegas-Lanau, Andrés A; White, Charles L CL; Matallana, Diana D; Myers, Richard M RM; Browning, Sharon R SR; Lopera, Francisco F; Kosik, Kenneth S KS

Publication Date: 2022-03-08

Variant appearance in text: PSEN1: 1247T>C; Ile416Thr

PubMed Link: 35260199

Variant Present in the following documents:

• Main text
• 13073_2022_Article_1035.pdf
• 13073_2022_1035_MOESM9_ESM.xlsx, sheet 1
• 13073_2022_1035_MOESM8_ESM.xlsx, sheet 1
• 13073_2022_1035_MOESM7_ESM.pdf

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Neurodegenerative diseases: a hotbed for splicing defects and the potential therapies.

Translational Neurodegeneration

Li, Dunhui D; McIntosh, Craig Stewart CS; Mastaglia, Frank Louis FL; Wilton, Steve Donald SD; Aung-Htut, May Thandar MT

Publication Date: 2021-05-20

Variant appearance in text: PSEN1: Ile416Thr

PubMed Link: 34016162

Variant Present in the following documents:

• 40035_2021_Article_240.pdf

View BVdb publication page

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Dementia in Latin America: Paving the way toward a regional action plan.

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

Parra, Mario Alfredo MA; Baez, Sandra S; Sedeño, Lucas L; Gonzalez Campo, Cecilia C; Santamaría-García, Hernando H; Aprahamian, Ivan I; Bertolucci, Paulo Hf PH; Bustin, Julian J; Camargos Bicalho, Maria Aparecida MA; Cano-Gutierrez, Carlos C; Caramelli, Paulo P; Chaves, Marcia L F MLF; Cogram, Patricia P; Beber, Bárbara Costa BC; Court, Felipe A FA; de Souza, Leonardo Cruz LC; Custodio, Nilton N; Damian, Andres A; de la Cruz, Myriam M; Diehl Rodriguez, Roberta R; Brucki, Sonia Maria Dozzi SMD; Fajersztajn, Lais L; Farías, Gonzalo A GA; De Felice, Fernanda G FG; Ferrari, Raffaele R; de Oliveira, Fabricio Ferreira FF; Ferreira, Sergio T ST; Ferretti, Ceres C; Figueredo Balthazar, Marcio Luiz ML; Ferreira Frota, Norberto Anizio NA; Fuentes, Patricio P; García, Adolfo M AM; Garcia, Patricia J PJ; de Gobbi Porto, Fábio Henrique FH; Duque Peñailillo, Lissette L; Engler, Henry Willy HW; Maier, Irene I; Mata, Ignacio F IF; Gonzalez-Billault, Christian C; Lopez, Oscar L OL; Morelli, Laura L; Nitrini, Ricardo R; Quiroz, Yakeel T YT; Guerrero Barragan, Alejandra A; Huepe, David D; Pio, Fabricio Joao FJ; Suemoto, Claudia Kimie CK; Kochhann, Renata R; Kochen, Silvia S; Kumfor, Fiona F; Lanata, Serggio S; Miller, Bruce B; Mansur, Leticia Lessa LL; Hosogi, Mirna Lie ML; Lillo, Patricia P; Llibre Guerra, Jorge J; Lira, David D; Lopera, Francisco F; Comas, Adelina A; Avila-Funes, José Alberto JA; Sosa, Ana Luisa AL; Ramos, Claudia C; Resende, Elisa de Paula França EPF; Snyder, Heather M HM; Tarnanas, Ioannis I; Yokoyama, Jenifer J; Llibre, Juan J; Cardona, Juan Felipe JF; Possin, Kate K; Kosik, Kenneth S KS; Montesinos, Rosa R; Moguilner, Sebastian S; Solis, Patricia Cristina Lourdes PCL; Ferretti-Rebustini, Renata Eloah de Lucena REL; Ramirez, Jeronimo Martin JM; Matallana, Diana D; Mbakile-Mahlanza, Lingani L; Marques Ton, Alyne Mendonça AM; Tavares, Ronnielly Melo RM; Miotto, Eliane C EC; Muniz-Terrera, Graciela G; Muñoz-Nevárez, Luis Arnoldo LA; Orozco, David D; Okada de Oliveira, Maira M; Piguet, Olivier O; Pintado Caipa, Maritza M; Piña Escudero, Stefanie Danielle SD; Schilling, Lucas Porcello LP; Rodrigues Palmeira, André Luiz AL; Yassuda, Mônica Sanches MS; Santacruz-Escudero, Jose Manuel JM; Serafim, Rodrigo Bernardo RB; Smid, Jerusa J; Slachevsky, Andrea A; Serrano, Cecilia C; Soto-Añari, Marcio M; Takada, Leonel Tadao LT; Grinberg, Lea Tenenholz LT; Teixeira, Antonio Lucio AL; Barbosa, Maira Tonidandel MT; Trépel, Dominic D; Ibanez, Agustin A

Publication Date: 2021-02

Variant appearance in text: PSEN1: Ile416Thr

PubMed Link: 33634602

Variant Present in the following documents:

• Main text
• ALZ-17-295.pdf

View BVdb publication page

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Genetics of dementia: insights from Latin America.

Dementia & Neuropsychologia

Ramos, Claudia C; Aguillon, David D; Cordano, Christian C; Lopera, Francisco F

Publication Date: 2020

Variant appearance in text: PSEN1: I416T

PubMed Link: 32973976

Variant Present in the following documents:

• Main text
• 1980-5764-dn-14-03-223.pdf

View BVdb publication page

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Transcriptomics in Alzheimer's Disease: Aspects and Challenges.

International Journal Of Molecular Sciences

Bagyinszky, Eva E; Giau, Vo Van VV; An, SeongSoo A SA

Publication Date: 2020-05-15

Variant appearance in text: PSEN1: Ile416Thr

PubMed Link: 32429229

Variant Present in the following documents:

• Main text
• ijms-21-03517.pdf

View BVdb publication page

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Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.

Nature Communications

Park, Jun Sung JS; Lee, Junehawk J; Jung, Eun Sun ES; Kim, Myeong-Heui MH; Kim, Il Bin IB; Son, Hyeonju H; Kim, Sangwoo S; Kim, Sanghyeon S; Park, Young Mok YM; Mook-Jung, Inhee I; Yu, Seok Jong SJ; Lee, Jeong Ho JH

Publication Date: 2019-07-12

Variant appearance in text: PSEN1: I416T

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

View BVdb publication page

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Lessons on Differential Neuronal-Death-Vulnerability from Familial Cases of Parkinson's and Alzheimer's Diseases.

International Journal Of Molecular Sciences

Franco, Rafael R; Navarro, Gemma G; Martínez-Pinilla, Eva E

Publication Date: 2019-07-04

Variant appearance in text: PSEN1: Ile416Thr

PubMed Link: 31277513

Variant Present in the following documents:

• ijms-20-03297.pdf

View BVdb publication page

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Genetic origin of a large family with a novel PSEN1 mutation (Ile416Thr).

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

Ramirez Aguilar, Laura L; Acosta-Uribe, Juliana J; Giraldo, Margarita M MM; Moreno, Sonia S; Baena, Ana A; Alzate, Diana D; Cuastumal, Rosario R; Aguillón, David D; Madrigal, Lucía L; Saldarriaga, Amanda A; Navarro, Alexander A; Garcia, Gloria P GP; Aguirre-Acevedo, Daniel C DC; Geier, Ethan G EG; Cochran, J Nicholas JN; Quiroz, Yakeel T YT; Myers, Richard M RM; Yokoyama, Jennifer S JS; Kosik, Kenneth S KS; Lopera, Francisco F

Publication Date: 2019-05

Variant appearance in text: PSEN1: 1247T>C; ILE416THR

PubMed Link: 30745123

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-exome sequencing of primary plasma cell leukemia discloses heterogeneous mutational patterns.

Oncotarget

Cifola, Ingrid I; Lionetti, Marta M; Pinatel, Eva E; Todoerti, Katia K; Mangano, Eleonora E; Pietrelli, Alessandro A; Fabris, Sonia S; Mosca, Laura L; Simeon, Vittorio V; Petrucci, Maria Teresa MT; Morabito, Fortunato F; Offidani, Massimo M; Di Raimondo, Francesco F; Falcone, Antonietta A; Caravita, Tommaso T; Battaglia, Cristina C; De Bellis, Gianluca G; Palumbo, Antonio A; Musto, Pellegrino P; Neri, Antonino A

Publication Date: 2015-07-10

Variant appearance in text: PSEN1: I416T

PubMed Link: 26046463

Variant Present in the following documents:

• oncotarget-06-17543-s002.xls, sheet 1

View BVdb publication page

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Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.

Nature Genetics

Dulak, Austin M AM; Stojanov, Petar P; Peng, Shouyong S; Lawrence, Michael S MS; Fox, Cameron C; Stewart, Chip C; Bandla, Santhoshi S; Imamura, Yu Y; Schumacher, Steven E SE; Shefler, Erica E; McKenna, Aaron A; Carter, Scott L SL; Cibulskis, Kristian K; Sivachenko, Andrey A; Saksena, Gordon G; Voet, Douglas D; Ramos, Alex H AH; Auclair, Daniel D; Thompson, Kristin K; Sougnez, Carrie C; Onofrio, Robert C RC; Guiducci, Candace C; Beroukhim, Rameen R; Zhou, Zhongren Z; Lin, Lin L; Lin, Jules J; Reddy, Rishindra R; Chang, Andrew A; Landrenau, Rodney R; Pennathur, Arjun A; Ogino, Shuji S; Luketich, James D JD; Golub, Todd R TR; Gabriel, Stacey B SB; Lander, Eric S ES; Beer, David G DG; Godfrey, Tony E TE; Getz, Gad G; Bass, Adam J AJ

Publication Date: 2013-05

Variant appearance in text: PSEN1: I416T

PubMed Link: 23525077

Variant Present in the following documents:

• NIHMS474888-supplement-6.xlsx, sheet 1

View BVdb publication page

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