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
Association Between Common Variants of APOE, ABCA7, A2M, BACE1, and Cerebrospinal Fluid Biomarkers in Alzheimer's Disease: Data from the PUMCH Dementia Cohort.
Journal Of Alzheimer'S Disease : Jad
Dong, Liling L; Mao, Chenhui C; Liu, Caiyan C; Li, Jie J; Huang, Xinying X; Wang, Jie J; Lei, Dan D; Chu, Shanshan S; Sha, Longze L; Xu, Qi Q; Peng, Bin B; Cui, Liying L; Gao, Jing J
Publication Date: 2022
Variant appearance in text: SORL1: 3738C>T; N1246N; rs1699102
SORL1 mutation in a Greek family with Parkinson's disease and dementia.
Annals Of Clinical And Translational Neurology
Xiromerisiou, Georgia G; Bourinaris, Thomas T; Houlden, Henry H; Lewis, Patrick A PA; Senkevich, Konstantin K; Hammer, Monia M; Federoff, Monica M; Khan, Alaa A; Spanaki, Cleanthe C; Hadjigeorgiou, Georgios M GM; Bonstanjopoulou, Sevasti S; Fidani, Liana L; Ermolaev, Aleksey A; Gan-Or, Ziv Z; Singleton, Andrew A; Vandrovcova, Jana J; Hardy, John J
Publication Date: 2021-10
Variant appearance in text: SORL1: N1246N; rs1699102
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08
Variant appearance in text: SORL1: 3738C>T; N1246N; rs1699102
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
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: SORL1: N1246N; rs1699102
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27
Variant appearance in text: SORL1: 3738C>T; rs1699102
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Characterization of pathogenic SORL1 genetic variants for association with Alzheimer's disease: a clinical interpretation strategy.
European Journal Of Human Genetics : Ejhg
Holstege, Henne H; van der Lee, Sven J SJ; Hulsman, Marc M; Wong, Tsz Hang TH; van Rooij, Jeroen Gj JG; Weiss, Marjan M; Louwersheimer, Eva E; Wolters, Frank J FJ; Amin, Najaf N; Uitterlinden, André G AG; Hofman, Albert A; Ikram, M Arfan MA; van Swieten, John C JC; Meijers-Heijboer, Hanne H; van der Flier, Wiesje M WM; Reinders, Marcel Jt MJ; van Duijn, Cornelia M CM; Scheltens, Philip P
A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease.
Acta Neuropathologica
Verheijen, Jan J; Van den Bossche, Tobi T; van der Zee, Julie J; Engelborghs, Sebastiaan S; Sanchez-Valle, Raquel R; Lladó, Albert A; Graff, Caroline C; Thonberg, Håkan H; Pastor, Pau P; Ortega-Cubero, Sara S; Pastor, Maria A MA; Benussi, Luisa L; Ghidoni, Roberta R; Binetti, Giuliano G; Clarimon, Jordi J; Lleó, Alberto A; Fortea, Juan J; de Mendonça, Alexandre A; Martins, Madalena M; Grau-Rivera, Oriol O; Gelpi, Ellen E; Bettens, Karolien K; Mateiu, Ligia L; Dillen, Lubina L; Cras, Patrick P; De Deyn, Peter P PP; Van Broeckhoven, Christine C; Sleegers, Kristel K
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08
Variant appearance in text: SORL1: N1246N; rs1699102
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: SORL1: N1246N; rs1699102
Reynolds, Chandra A CA; Zavala, Catalina C; Gatz, Margaret M; Vie, Loryana L; Johansson, Boo B; Malmberg, Bo B; Ingelsson, Erik E; Prince, Jonathan A JA; Pedersen, Nancy L NL
Whole genome association analysis shows that ACE is a risk factor for Alzheimer's disease and fails to replicate most candidates from Meta-analysis.
International Journal Of Molecular Epidemiology And Genetics
Webster, Jennifer J; Reiman, Eric M EM; Zismann, Victoria L VL; Joshipura, Keta D KD; Pearson, John V JV; Hu-Lince, Diane D; Huentelman, Matthew J MJ; Craig, David W DW; Coon, Keith D KD; Beach, Thomas T; Rohrer, Kristen C KC; Zhao, Alice S AS; Leung, Doris D; Bryden, Leslie L; Marlowe, Lauren L; Kaleem, Mona M; Mastroeni, Diego D; Grover, Andrew A; Rogers, Joseph J; Heun, Reinhard R; Jessen, Frank F; Kölsch, Heike H; Heward, Christopher B CB; Ravid, Rivka R; Hutton, Michael L ML; Melquist, Stacey S; Petersen, Ron C RC; Caselli, Richard J RJ; Papassotiropoulos, Andreas A; Stephan, Dietrich A DA; Hardy, John J; Myers, Amanda A
Meta-analysis of the association between variants in SORL1 and Alzheimer disease.
Archives Of Neurology
Reitz, Christiane C; Cheng, Rong R; Rogaeva, Ekaterina E; Lee, Joseph H JH; Tokuhiro, Shinya S; Zou, Fanggeng F; Bettens, Karolien K; Sleegers, Kristel K; Tan, Eng King EK; Kimura, Ryo R; Shibata, Nobuto N; Arai, Heii H; Kamboh, M Ilyas MI; Prince, Jonathan A JA; Maier, Wolfgang W; Riemenschneider, Matthias M; Owen, Michael M; Harold, Denise D; Hollingworth, Paul P; Cellini, Elena E; Sorbi, Sandro S; Nacmias, Benedetta B; Takeda, Masatoshi M; Pericak-Vance, Margaret A MA; Haines, Jonathan L JL; Younkin, Steven S; Williams, Julie J; van Broeckhoven, Christine C; Farrer, Lindsay A LA; St George-Hyslop, Peter H PH; Mayeux, Richard R; ,
Publication Date: 2011-01
Variant appearance in text: SORL1: N1246N; rs1699102
Sequence variation in SORL1 and dementia risk in Swedes.
Neurogenetics
Reynolds, Chandra A CA; Hong, Mun-Gwan MG; Eriksson, Ulrika K UK; Blennow, Kaj K; Johansson, Boo B; Malmberg, Bo B; Berg, Stig S; Gatz, Margaret M; Pedersen, Nancy L NL; Bennet, Anna M AM; Prince, Jonathan A JA
Association of distinct variants in SORL1 with cerebrovascular and neurodegenerative changes related to Alzheimer disease.
Archives Of Neurology
T Cuenco, Karen K; Lunetta, Kathryn L KL; Baldwin, Clinton T CT; McKee, Ann C AC; Guo, Jianping J; Cupples, L Adrienne LA; Green, Robert C RC; St George-Hyslop, Peter H PH; Chui, Helena H; DeCarli, Charles C; Farrer, Lindsay A LA; ,
SORL1 variants and risk of late-onset Alzheimer's disease.
Neurobiology Of Disease
Li, Yonghong Y; Rowland, Charles C; Catanese, Joseph J; Morris, John J; Lovestone, Simon S; O'Donovan, Michael C MC; Goate, Alison A; Owen, Michael M; Williams, Julie J; Grupe, Andrew A
The association between genetic variants in SORL1 and Alzheimer disease in an urban, multiethnic, community-based cohort.
Archives Of Neurology
Lee, Joseph H JH; Cheng, Rong R; Schupf, Nicole N; Manly, Jennifer J; Lantigua, Rafael R; Stern, Yaakov Y; Rogaeva, Ekaterina E; Wakutani, Yosuke Y; Farrer, Lindsay L; St George-Hyslop, Peter P; Mayeux, Richard R
The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease.
Nature Genetics
Rogaeva, Ekaterina E; Meng, Yan Y; Lee, Joseph H JH; Gu, Yongjun Y; Kawarai, Toshitaka T; Zou, Fanggeng F; Katayama, Taiichi T; Baldwin, Clinton T CT; Cheng, Rong R; Hasegawa, Hiroshi H; Chen, Fusheng F; Shibata, Nobuto N; Lunetta, Kathryn L KL; Pardossi-Piquard, Raphaelle R; Bohm, Christopher C; Wakutani, Yosuke Y; Cupples, L Adrienne LA; Cuenco, Karen T KT; Green, Robert C RC; Pinessi, Lorenzo L; Rainero, Innocenzo I; Sorbi, Sandro S; Bruni, Amalia A; Duara, Ranjan R; Friedland, Robert P RP; Inzelberg, Rivka R; Hampe, Wolfgang W; Bujo, Hideaki H; Song, You-Qiang YQ; Andersen, Olav M OM; Willnow, Thomas E TE; Graff-Radford, Neill N; Petersen, Ronald C RC; Dickson, Dennis D; Der, Sandy D SD; Fraser, Paul E PE; Schmitt-Ulms, Gerold G; Younkin, Steven S; Mayeux, Richard R; Farrer, Lindsay A LA; St George-Hyslop, Peter P
Publication Date: 2007-02
Variant appearance in text: SORL1: N1246N; rs1699102