Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01
Variant appearance in text: LRP1: D100E; rs1799986
Validation of Genetic Markers Associated with Survival in Colorectal Cancer Patients Treated with Oxaliplatin-Based Chemotherapy.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Park, Hanla A HA; Seibold, Petra P; Edelmann, Dominic D; Benner, Axel A; Canzian, Federico F; Alwers, Elizabeth E; Jansen, Lina L; Schneider, Martin M; Hoffmeister, Michael M; Brenner, Hermann H; Chang-Claude, Jenny J
APOE genotype moderates the relationship between LRP1 polymorphism and cognition across the Alzheimer's disease spectrum via disturbing default mode network.
Association of Low-Density Lipoprotein Receptor-Related Protein 1 and Its rs1799986 Polymorphism With Mild Cognitive Impairment in Chinese Patients With Type 2 Diabetes.
Frontiers In Neuroscience
Cao, Wuyou W; Tian, Sai S; Zhang, Haoqiang H; Zhu, Wenwen W; An, Ke K; Shi, Jijing J; Yuan, Yang Y; Wang, Shaohua S
Multiple genetic imaging study of the association between cholesterol metabolism and brain functional alterations in individuals with risk factors for Alzheimer's disease.
Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.
Nature Genetics
Paternoster, Lavinia L; Standl, Marie M; Waage, Johannes J; Baurecht, Hansjörg H; Hotze, Melanie M; Strachan, David P DP; Curtin, John A JA; Bønnelykke, Klaus K; Tian, Chao C; Takahashi, Atsushi A; Esparza-Gordillo, Jorge J; Alves, Alexessander Couto AC; Thyssen, Jacob P JP; den Dekker, Herman T HT; Ferreira, Manuel A MA; Altmaier, Elisabeth E; Sleiman, Patrick Ma PM; Xiao, Feng Li FL; Gonzalez, Juan R JR; Marenholz, Ingo I; Kalb, Birgit B; Yanes, Maria Pino MP; Xu, Cheng-Jian CJ; Carstensen, Lisbeth L; Groen-Blokhuis, Maria M MM; Venturini, Cristina C; Pennell, Craig E CE; Barton, Sheila J SJ; Levin, Albert M AM; Curjuric, Ivan I; Bustamante, Mariona M; Kreiner-Møller, Eskil E; Lockett, Gabrielle A GA; Bacelis, Jonas J; Bunyavanich, Supinda S; Myers, Rachel A RA; Matanovic, Anja A; Kumar, Ashish A; Tung, Joyce Y JY; Hirota, Tomomitsu T; Kubo, Michiaki M; McArdle, Wendy L WL; Henderson, A J AJ; Kemp, John P JP; Zheng, Jie J; Smith, George Davey GD; Rüschendorf, Franz F; Bauerfeind, Anja A; Lee-Kirsch, Min Ae MA; Arnold, Andreas A; Homuth, Georg G; Schmidt, Carsten O CO; Mangold, Elisabeth E; Cichon, Sven S; Keil, Thomas T; Rodríguez, Elke E; Peters, Annette A; Franke, Andre A; Lieb, Wolfgang W; Novak, Natalija N; Fölster-Holst, Regina R; Horikoshi, Momoko M; Pekkanen, Juha J; Sebert, Sylvain S; Husemoen, Lise L LL; Grarup, Niels N; de Jongste, Johan C JC; Rivadeneira, Fernando F; Hofman, Albert A; Jaddoe, Vincent Wv VW; Pasmans, Suzanne Gma SG; Elbert, Niels J NJ; Uitterlinden, André G AG; Marks, Guy B GB; Thompson, Philip J PJ; Matheson, Melanie C MC; Robertson, Colin F CF; , ; Ried, Janina S JS; Li, Jin J; Zuo, Xian Bo XB; Zheng, Xiao Dong XD; Yin, Xian Yong XY; Sun, Liang Dan LD; McAleer, Maeve A MA; O'Regan, Grainne M GM; Fahy, Caoimhe Mr CM; Campbell, Linda E LE; Macek, Milan M; Kurek, Michael M; Hu, Donglei D; Eng, Celeste C; Postma, Dirkje S DS; Feenstra, Bjarke B; Geller, Frank F; Hottenga, Jouke Jan JJ; Middeldorp, Christel M CM; Hysi, Pirro P; Bataille, Veronique V; Spector, Tim T; Tiesler, Carla Mt CM; Thiering, Elisabeth E; Pahukasahasram, Badri B; Yang, James J JJ; Imboden, Medea M; Huntsman, Scott S; Vilor-Tejedor, Natàlia N; Relton, Caroline L CL; Myhre, Ronny R; Nystad, Wenche W; Custovic, Adnan A; Weiss, Scott T ST; Meyers, Deborah A DA; Söderhäll, Cilla C; Melén, Erik E; Ober, Carole C; Raby, Benjamin A BA; Simpson, Angela A; Jacobsson, Bo B; Holloway, John W JW; Bisgaard, Hans H; Sunyer, Jordi J; Hensch, Nicole M Probst NMP; Williams, L Keoki LK; Godfrey, Keith M KM; Wang, Carol A CA; Boomsma, Dorret I DI; Melbye, Mads M; Koppelman, Gerard H GH; Jarvis, Deborah D; McLean, Wh Irwin WI; Irvine, Alan D AD; Zhang, Xue Jun XJ; Hakonarson, Hakon H; Gieger, Christian C; Burchard, Esteban G EG; Martin, Nicholas G NG; Duijts, Liesbeth L; Linneberg, Allan A; Jarvelin, Marjo-Riitta MR; Noethen, Markus M MM; Lau, Susanne S; Hübner, Norbert N; Lee, Young-Ae YA; Tamari, Mayumi M; Hinds, David A DA; Glass, Daniel D; Brown, Sara J SJ; Heinrich, Joachim J; Evans, David M DM; Weidinger, Stephan S
LRP-1 polymorphism is associated with global and regional amyloid load in Alzheimer's Disease in humans in-vivo.
Neuroimage. Clinical
Grimmer, Timo T; Goldhardt, Oliver O; Guo, Liang-Hao LH; Yousefi, Behrooz H BH; Förster, Stefan S; Drzezga, Alexander A; Sorg, Christian C; Alexopoulos, Panagiotis P; Förstl, Hans H; Kurz, Alexander A; Perneczky, Robert R
Lipoprotein receptor-related protein 1 variants and dietary fatty acids: meta-analysis of European origin and African American studies.
International Journal Of Obesity (2005)
Smith, C E CE; Ngwa, J J; Tanaka, T T; Qi, Q Q; Wojczynski, M K MK; Lemaitre, R N RN; Anderson, J S JS; Manichaikul, A A; Mikkilä, V V; van Rooij, F J A FJ; Ye, Z Z; Bandinelli, S S; Frazier-Wood, A C AC; Houston, D K DK; Hu, F F; Langenberg, C C; McKeown, N M NM; Mozaffarian, D D; North, K E KE; Viikari, J J; Zillikens, M C MC; Djoussé, L L; Hofman, A A; Kähönen, M M; Kabagambe, E K EK; Loos, R J F RJ; Saylor, G B GB; Forouhi, N G NG; Liu, Y Y; Mukamal, K J KJ; Chen, Y-D I YD; Tsai, M Y MY; Uitterlinden, A G AG; Raitakari, O O; van Duijn, C M CM; Arnett, D K DK; Borecki, I B IB; Cupples, L A LA; Ferrucci, L L; Kritchevsky, S B SB; Lehtimäki, T T; Qi, Lu L; Rotter, J I JI; Siscovick, D S DS; Wareham, N J NJ; Witteman, J C M JC; Ordovás, J M JM; Nettleton, J A JA
LRP-1 variation is not associated with risk of Alzheimer's disease.
International Journal Of Molecular Epidemiology And Genetics
Chalmers, Katy A KA; Barker, Rachel R; Passmore, Peter A PA; Panza, Francesco F; Seripa, Davide D; Solfrizzi, Vincenzo V; Love, Seth S; Prince, Jonathan A JA; Kehoe, Patrick G PG
Disparities in allele frequencies and population differentiation for 101 disease-associated single nucleotide polymorphisms between Puerto Ricans and non-Hispanic whites.
Bmc Genetics
Mattei, Josiemer J; Parnell, Laurence D LD; Lai, Chao-Qiang CQ; Garcia-Bailo, Bibiana B; Adiconis, Xian X; Shen, Jian J; Arnett, Donna D; Demissie, Serkalem S; Tucker, Katherine L KL; Ordovas, Jose M JM
An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3.
American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Edwards, Todd L TL; Pericak-Vance, Margaret M; Gilbert, Johnny R JR; Haines, Jonathan L JL; Martin, Eden R ER; Ritchie, Marylyn D MD
Common genetic variation within the low-density lipoprotein receptor-related protein 6 and late-onset Alzheimer's disease.
Proceedings Of The National Academy Of Sciences Of The United States Of America
De Ferrari, Giancarlo V GV; Papassotiropoulos, Andreas A; Biechele, Travis T; Wavrant De-Vrieze, Fabienne F; Avila, Miguel E ME; Major, Michael B MB; Myers, Amanda A; Sáez, Katia K; Henríquez, Juan P JP; Zhao, Alice A; Wollmer, M Axel MA; Nitsch, Roger M RM; Hock, Christoph C; Morris, Chris M CM; Hardy, John J; Moon, Randall T RT