Publications:

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: PSEN1: 953A>G; Glu318Gly; rs17125721

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Presenilin 1 Modulates Acetylcholinesterase Trafficking and Maturation.

International Journal Of Molecular Sciences

Cortés-Gómez, María-Ángeles MÁ; Barberá, Víctor M VM; Alom, Jordi J; Sáez-Valero, Javier J; García-Ayllón, María-Salud MS

Publication Date: 2023-01-11

Variant appearance in text: PS1: E318G

PubMed Link: 36674948

Variant Present in the following documents:

• Main text
• ijms-24-01437.pdf

View BVdb publication page

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Semantic and right temporal variant of FTD: Next generation sequencing genetic analysis on a single-center cohort.

Frontiers In Aging Neuroscience

Rossi, Giacomina G; Salvi, Erika E; Mehmeti, Elkadia E; Ricci, Martina M; Villa, Cristina C; Prioni, Sara S; Moda, Fabio F; Di Fede, Giuseppe G; Tiraboschi, Pietro P; Redaelli, Veronica V; Coppola, Cinzia C; Koch, Giacomo G; Canu, Elisa E; Filippi, Massimo M; Agosta, Federica F; Giaccone, Giorgio G; Caroppo, Paola P

Publication Date: 2022

Variant appearance in text: PSEN1: 953A>G

PubMed Link: 36570531

Variant Present in the following documents:

• Main text
• fnagi-14-1085406.pdf

View BVdb publication page

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The associations of APP, PSEN1, and PSEN2 genes with Alzheimer's disease: A large case-control study in Chinese population.

Cns Neuroscience & Therapeutics

Xiao, Xuewen X; Liu, Hui H; Zhou, Lu L; Liu, Xixi X; Xu, Tianyan T; Zhu, Yuan Y; Yang, Qijie Q; Hao, Xiaoli X; Liu, Yingzi Y; Zhang, Weiwei W; Zhou, Yafang Y; Wang, Junling J; Li, Jinchen J; Jiao, Bin B; Shen, Lu L; Liao, Xinxin X

Publication Date: 2022-10-10

Variant appearance in text: PSEN1: E318G

PubMed Link: 36217304

Variant Present in the following documents:

• Main text
• CNS-29-122.pdf

View BVdb publication page

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The relationship of early- and late-onset Alzheimer's disease genes with COVID-19.

Journal Of Neural Transmission (Vienna, Austria : 1996)

Sirin, Seda S; Nigdelioglu Dolanbay, Serap S; Aslim, Belma B

Publication Date: 2022-07

Variant appearance in text: rs17125721

PubMed Link: 35429259

Variant Present in the following documents:

• Main text
• 702_2022_Article_2499.pdf

View BVdb publication page

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The Genomic Architecture of Hidradenitis Suppurativa-A Systematic Review.

Frontiers In Genetics

Pace, Nikolai Paul NP; Mintoff, Dillon D; Borg, Isabella I

Publication Date: 2022

Variant appearance in text: PSEN1: 953A>G; Glu318Gly

PubMed Link: 35401657

Variant Present in the following documents:

• Main text
• fgene-13-861241.pdf

View BVdb publication page

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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: 953A>G

PubMed Link: 35260199

Variant Present in the following documents:

• Main text
• 13073_2022_Article_1035.pdf

View BVdb publication page

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Genetic Architecture and Molecular, Imaging and Prodromic Markers in Dementia with Lewy Bodies: State of the Art, Opportunities and Challenges.

International Journal Of Molecular Sciences

Combi, Romina R; Salsone, Maria M; Villa, Chiara C; Ferini-Strambi, Luigi L

Publication Date: 2021-04-12

Variant appearance in text: PSEN1: Glu318Gly

PubMed Link: 33921279

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel Mutation of the NCSTN Gene Identified in a Chinese Acne Inversa Family.

Annals Of Dermatology

Wu, Jing J; Ge, Huiyao H; Fan, Yiming Y; Zhen, Qi Q; Tang, Lili L; Sun, Liangdan L

Publication Date: 2020-06

Variant appearance in text: PSEN1: 953A>G; Glu318Gly

PubMed Link: 33911744

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: PSEN1: 953A>G; E318G; rs17125721

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 2
• pone.0249324.s003.xlsx, sheet 1

View BVdb publication page

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Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.

Peerj

Guelly, Christian C; Abilova, Zhannur Z; Nuralinov, Omirbek O; Panzitt, Katrin K; Akhmetova, Ainur A; Rakhimova, Saule S; Kozhamkulov, Ulan U; Kairov, Ulykbek U; Molkenov, Askhat A; Seisenova, Ainur A; Trajanoski, Slave S; Abildinova Rashbayeva, Gulzhaina G; Kaussova, Galina G; Windpassinger, Christian C; Lee, Joseph H JH; Zhumadilov, Zhaxybay Z; Bekbossynova, Makhabbat M; Akilzhanova, Ainur A

Publication Date: 2021

Variant appearance in text: PSEN1: E318G

PubMed Link: 33552729

Variant Present in the following documents:

• peerj-09-10711-s004.xlsx, sheet 1
• peerj-09-10711-s004.xlsx, sheet 2

View BVdb publication page

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Some Molecular and Cellular Stress Mechanisms Associated with Neurodegenerative Diseases and Atherosclerosis.

International Journal Of Molecular Sciences

Sazonova, Margarita A MA; Sinyov, Vasily V VV; Ryzhkova, Anastasia I AI; Sazonova, Marina D MD; Kirichenko, Tatiana V TV; Khotina, Victoria A VA; Khasanova, Zukhra B ZB; Doroschuk, Natalya A NA; Karagodin, Vasily P VP; Orekhov, Alexander N AN; Sobenin, Igor A IA

Publication Date: 2021-01-12

Variant appearance in text: PSEN1: E318G

PubMed Link: 33445687

Variant Present in the following documents:

• ijms-22-00699.pdf

View BVdb publication page

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γ-Secretase Genetics of Hidradenitis Suppurativa: A Systematic Literature Review.

Dermatology (Basel, Switzerland)

Wang, Zhongshuai Z; Yan, Yan Y; Wang, Baoxi B

Publication Date: 2021

Variant appearance in text: PSEN1: 953A>G; E318G

PubMed Link: 33333507

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sporadic Creutzfeldt-Jakob Disease and Other Proteinopathies in Comorbidity.

Frontiers In Neurology

Parobkova, Eva E; van der Zee, Julie J; Dillen, Lubina L; Van Broeckhoven, Christine C; Rusina, Robert R; Matej, Radoslav R

Publication Date: 2020

Variant appearance in text: PSEN1: E318G

PubMed Link: 33329348

Variant Present in the following documents:

• Main text
• fneur-11-596108.pdf

View BVdb publication page

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Late-onset vs nonmendelian early-onset Alzheimer disease: A distinction without a difference?

Neurology. Genetics

Reitz, Christiane C; Rogaeva, Ekaterina E; Beecham, Gary W GW

Publication Date: 2020-10

Variant appearance in text: PSEN1: Glu318Gly

PubMed Link: 33225065

Variant Present in the following documents:

• Main text
• NG2020013862.pdf

View BVdb publication page

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Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell

Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,

Publication Date: 2020-11-25

Variant appearance in text: PSEN1: E318G

PubMed Link: 33212010

Variant Present in the following documents:

• NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5

View BVdb publication page

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Singular cases of Alzheimer's disease disclose new and old genetic "acquaintances".

Neurological Sciences : Official Journal Of The Italian Neurological Society And Of The Italian Society Of Clinical Neurophysiology

Coppola, Cinzia C; Saracino, Dario D; Oliva, Mariano M; Cipriano, Lorenzo L; Puoti, Gianfranco G; Pappatà, Sabina S; Di Fede, Giuseppe G; Catania, Marcella M; Ricci, Martina M; Cimini, Sara S; Giaccone, Giorgio G; Bonavita, Simona S; Rossi, Giacomina G

Publication Date: 2021-05

Variant appearance in text: PSEN1: Glu318Gly

PubMed Link: 33006056

Variant Present in the following documents:

• Main text

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: E318G; rs17125721

PubMed Link: 32973976

Variant Present in the following documents:

• Main text

View BVdb publication page

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Amyloid-β1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations.

Alzheimer'S Research & Therapy

Perrone, Federica F; Bjerke, Maria M; Hens, Elisabeth E; Sieben, Anne A; Timmers, Maarten M; De Roeck, Arne A; Vandenberghe, Rik R; Sleegers, Kristel K; Martin, Jean-Jacques JJ; De Deyn, Peter P PP; Engelborghs, Sebastiaan S; van der Zee, Julie J; Van Broeckhoven, Christine C; Cacace, Rita R; ,

Publication Date: 2020-09-11

Variant appearance in text: PSEN1: e318g; rs17125721

PubMed Link: 32917274

Variant Present in the following documents:

• Main text
• 13195_2020_Article_676.pdf

View BVdb publication page

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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: PSEN1: Glu318Gly

PubMed Link: 32439597

Variant Present in the following documents:

• Main text

View BVdb publication page

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Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.

Scientific Reports

Blumenau, Sonja S; Foddis, Marco M; Müller, Susanne S; Holtgrewe, Manuel M; Bentele, Kajetan K; Berchtold, Daniel D; Beule, Dieter D; Dirnagl, Ulrich U; Sassi, Celeste C

Publication Date: 2020-04-28

Variant appearance in text: PSEN1: 953A>G; E318G; rs17125721

PubMed Link: 32345996

Variant Present in the following documents:

• Main text
• 41598_2020_63183_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: PSEN1: E318G

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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The Genetics of Alzheimer's Disease in the Chinese Population.

International Journal Of Molecular Sciences

Gan, Chen-Ling CL; Zhang, Tao T; Lee, Tae Ho TH

Publication Date: 2020-03-30

Variant appearance in text: PS1: E318G

PubMed Link: 32235595

Variant Present in the following documents:

• Main text
• ijms-21-02381.pdf

View BVdb publication page

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Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.

Neurobiology Of Disease

Hsu, Simon S; Pimenova, Anna A AA; Hayes, Kimberly K; Villa, Juan A JA; Rosene, Matthew J MJ; Jere, Madhavi M; Goate, Alison M AM; Karch, Celeste M CM

Publication Date: 2020-06

Variant appearance in text: PSEN1: E318G

PubMed Link: 32087291

Variant Present in the following documents:

• Main text
• NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 1
• nihms-1588025.pdf
• NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 2

View BVdb publication page

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Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.

Cold Spring Harbor Molecular Case Studies

Cochran, J Nicholas JN; McKinley, Emily C EC; Cochran, Meagan M; Amaral, Michelle D MD; Moyers, Bryan A BA; Lasseigne, Brittany N BN; Gray, David E DE; Lawlor, James M J JMJ; Prokop, Jeremy W JW; Geier, Ethan G EG; Holt, James M JM; Thompson, Michelle L ML; Newberry, J Scott JS; Yokoyama, Jennifer S JS; Worthey, Elizabeth A EA; Geldmacher, David S DS; Love, Marissa Natelson MN; Cooper, Gregory M GM; Myers, Richard M RM; Roberson, Erik D ED

Publication Date: 2019-12

Variant appearance in text: PSEN1: E318G

PubMed Link: 31836585

Variant Present in the following documents:

• supp_mcs.a003491_Supplemental_Material.pdf

View BVdb publication page

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Association of Acquired and Heritable Factors With Intergenerational Differences in Age at Symptomatic Onset of Alzheimer Disease Between Offspring and Parents With Dementia.

Jama Network Open

Day, Gregory S GS; Cruchaga, Carlos C; Wingo, Thomas T; Schindler, Suzanne E SE; Coble, Dean D; Morris, John C JC

Publication Date: 2019-10-02

Variant appearance in text: PSEN1: Glu318Gly

PubMed Link: 31617930

Variant Present in the following documents:

• Main text

View BVdb publication page

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Investigation of base excision repair gene variants in late-onset Alzheimer's disease.

Plos One

Ertuzun, Tugce T; Semerci, Asli A; Cakir, Mehmet Emin ME; Ekmekcioglu, Aysegul A; Gok, Mehmet Oguz MO; Soltys, Daniela T DT; de Souza-Pinto, Nadja C NC; Sezerman, Ugur U; Muftuoglu, Meltem M

Publication Date: 2019

Variant appearance in text: PSEN1: E318G; rs17125721

PubMed Link: 31415677

Variant Present in the following documents:

• Main text
• pone.0221362.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: E318G

PubMed Link: 31300647

Variant Present in the following documents:

• Main text
• 41467_2019_Article_11000.pdf
• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 1
• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

View BVdb publication page

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Individual and combined presenilin 1 and 2 knockouts reveal that both have highly overlapping functions in HEK293T cells.

The Journal Of Biological Chemistry

Lessard, Christian B CB; Rodriguez, Edgardo E; Ladd, Thomas B TB; Minter, Lisa M LM; Osborne, Barbara A BA; Miele, Lucio L; Golde, Todd E TE; Ran, Yong Y

Publication Date: 2019-07-19

Variant appearance in text: PSEN1: E318G

PubMed Link: 31167792

Variant Present in the following documents:

• Main text

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: PSEN1: 953A>G; Glu318Gly

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.

Esc Heart Failure

Jääskeläinen, Pertti P; Vangipurapu, Jagadish J; Raivo, Joose J; Kuulasmaa, Teemu T; Heliö, Tiina T; Aalto-Setälä, Katriina K; Kaartinen, Maija M; Ilveskoski, Erkki E; Vanninen, Sari S; Hämäläinen, Liisa L; Melin, John J; Kokkonen, Jorma J; Nieminen, Markku S MS; , ; Laakso, Markku M; Kuusisto, Johanna J

Publication Date: 2019-04

Variant appearance in text: PSEN1: 953A>G; Glu318Gly

PubMed Link: 30775854

Variant Present in the following documents:

• EHF2-6-436-s005.xlsx, sheet 1

View BVdb publication page

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Inter-rater reliability of phenotypes and exploratory genotype-phenotype analysis in inherited hidradenitis suppurativa.

The British Journal Of Dermatology

Frew, J W JW; Hawkes, J E JE; Sullivan-Whalen, M M; Gilleaudeau, P P; Krueger, J G JG

Publication Date: 2019-09

Variant appearance in text: PSEN1: 953A>G

PubMed Link: 30693478

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome sequencing in an Italian family with Alzheimer's disease points to a role for seizure-related gene 6 (SEZ6) rare variant R615H.

Alzheimer'S Research & Therapy

Paracchini, Lara L; Beltrame, Luca L; Boeri, Lucia L; Fusco, Federica F; Caffarra, Paolo P; Marchini, Sergio S; Albani, Diego D; Forloni, Gianluigi G

Publication Date: 2018-10-12

Variant appearance in text: PSEN1: E318G

PubMed Link: 30309378

Variant Present in the following documents:

• Main text

View BVdb publication page

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Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.

Alzheimer'S Research & Therapy

Karch, Celeste M CM; Hernández, Damián D; Wang, Jen-Chyong JC; Marsh, Jacob J; Hewitt, Alex W AW; Hsu, Simon S; Norton, Joanne J; Levitch, Denise D; Donahue, Tamara T; Sigurdson, Wendy W; Ghetti, Bernardino B; Farlow, Martin M; Chhatwal, Jasmeer J; Berman, Sarah S; Cruchaga, Carlos C; Morris, John C JC; Bateman, Randall J RJ; , ; Pébay, Alice A; Goate, Alison M AM

Publication Date: 2018-07-25

Variant appearance in text: PSEN1: E318G

PubMed Link: 30045758

Variant Present in the following documents:

• 13195_2018_Article_400.pdf

View BVdb publication page

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Evaluation of Animal Models by Comparison with Human Late-Onset Alzheimer's Disease.

Molecular Neurobiology

Kim, Bu-Yeo BY; Lim, Hye-Sun HS; Kim, Yoonju Y; Kim, Yu Jin YJ; Koo, Imhoi I; Jeong, Soo-Jin SJ

Publication Date: 2018-12

Variant appearance in text: PSEN1: E318G

PubMed Link: 29656362

Variant Present in the following documents:

• 12035_2018_Article_1036.pdf

View BVdb publication page

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Systematic identification of latent disease-gene associations from PubMed articles.

Plos One

Zhang, Yuji Y; Shen, Feichen F; Mojarad, Majid Rastegar MR; Li, Dingcheng D; Liu, Sijia S; Tao, Cui C; Yu, Yue Y; Liu, Hongfang H

Publication Date: 2018

Variant appearance in text: PSEN1: Glu318Gly

PubMed Link: 29373609

Variant Present in the following documents:

• pone.0191568.pdf

View BVdb publication page

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Whole-exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer's disease.

Neuropathology And Applied Neurobiology

Patel, T T; Brookes, K J KJ; Turton, J J; Chaudhury, S S; Guetta-Baranes, T T; Guerreiro, R R; Bras, J J; Hernandez, D D; Singleton, A A; Francis, P T PT; Hardy, J J; Morgan, K K

Publication Date: 2018-08

Variant appearance in text: PSEN1: E318G; rs17125721

PubMed Link: 29181857

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome Sequencing of Extended Families with Alzheimer's Disease Identifies Novel Genes Implicated in Cell Immunity and Neuronal Function.

Journal Of Alzheimer'S Disease & Parkinsonism

Cukier, H N HN; Kunkle, B K BK; Hamilton, K L KL; Rolati, S S; Kohli, M A MA; Whitehead, P L PL; Jaworski, J J; Vance, J M JM; Cuccaro, M L ML; Carney, R M RM; Gilbert, J R JR; Farrer, L A LA; Martin, E R ER; Beecham, G W GW; Haines, J L JL; Pericak-Vance, M A MA

Publication Date: 2017-08

Variant appearance in text: PSEN1: E318G; rs17125721

PubMed Link: 29177109

Variant Present in the following documents:

• Main text
• nihms907692.pdf

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: rs17125721

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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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: PSEN1: 953A>G; Glu318Gly

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Alzheimer's Disease in the Latino Community: Intersection of Genetics and Social Determinants of Health.

Journal Of Alzheimer'S Disease : Jad

Vega, Irving E IE; Cabrera, Laura Y LY; Wygant, Cassandra M CM; Velez-Ortiz, Daniel D; Counts, Scott E SE

Publication Date: 2017

Variant appearance in text: PSEN1: E318G

PubMed Link: 28527211

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: PSEN1: E318G; rs17125721

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

View BVdb publication page

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Amyloid-β accumulation in the CNS in human growth hormone recipients in the UK.

Acta Neuropathologica

Ritchie, Diane L DL; Adlard, Peter P; Peden, Alexander H AH; Lowrie, Suzanne S; Le Grice, Margaret M; Burns, Kimberley K; Jackson, Rosemary J RJ; Yull, Helen H; Keogh, Michael J MJ; Wei, Wei W; Chinnery, Patrick F PF; Head, Mark W MW; Ironside, James W JW

Publication Date: 2017-08

Variant appearance in text: PSEN1: E318G

PubMed Link: 28349199

Variant Present in the following documents:

• Main text
• 401_2017_Article_1703.pdf

View BVdb publication page

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Dynamic Nature of presenilin1/γ-Secretase: Implication for Alzheimer's Disease Pathogenesis.

Molecular Neurobiology

Zoltowska, Katarzyna Marta KM; Berezovska, Oksana O

Publication Date: 2018-03

Variant appearance in text: PS1: E318G

PubMed Link: 28332150

Variant Present in the following documents:

• Main text

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Expansion of the classification of FTLD-TDP: distinct pathology associated with rapidly progressive frontotemporal degeneration.

Acta Neuropathologica

Lee, Edward B EB; Porta, Sílvia S; Michael Baer, G G; Xu, Yan Y; Suh, EunRan E; Kwong, Linda K LK; Elman, Lauren L; Grossman, Murray M; Lee, Virginia M-Y VM; Irwin, David J DJ; Van Deerlin, Vivianna M VM; Trojanowski, John Q JQ

Publication Date: 2017-07

Variant appearance in text: PSEN1: 953A>G; Glu318Gly

PubMed Link: 28130640

Variant Present in the following documents:

• Main text

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Comprehensive Screening for Disease Risk Variants in Early-Onset Alzheimer's Disease Genes in African Americans Identifies Novel PSEN Variants.

Journal Of Alzheimer'S Disease : Jad

N'Songo, Aurelie A; Carrasquillo, Minerva M MM; Wang, Xue X; Nguyen, Thuy T; Asmann, Yan Y; Younkin, Steven G SG; Allen, Mariet M; Duara, Ranjan R; Custo, Maria T Greig MT; Graff-Radford, Neill N; Ertekin-Taner, Nilüfer N

Publication Date: 2017

Variant appearance in text: PSEN1: Glu318Gly

PubMed Link: 28106563

Variant Present in the following documents:

• Main text

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Familial Alzheimer's Disease Lymphocytes Respond Differently Than Sporadic Cells to Oxidative Stress: Upregulated p53-p21 Signaling Linked with Presenilin 1 Mutants.

Molecular Neurobiology

Wojsiat, Joanna J; Laskowska-Kaszub, Katarzyna K; Alquézar, Carolina C; Białopiotrowicz, Emilia E; Esteras, Noemi N; Zdioruk, Mykola M; Martin-Requero, Angeles A; Wojda, Urszula U

Publication Date: 2017-09

Variant appearance in text: PS1: E318G

PubMed Link: 27644130

Variant Present in the following documents:

• Main text

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Integration of bioinformatics and imaging informatics for identifying rare PSEN1 variants in Alzheimer's disease.

Bmc Medical Genomics

Nho, Kwangsik K; Horgusluoglu, Emrin E; Kim, Sungeun S; Risacher, Shannon L SL; Kim, Dokyoon D; Foroud, Tatiana T; Aisen, Paul S PS; Petersen, Ronald C RC; Jack, Clifford R CR; Shaw, Leslie M LM; Trojanowski, John Q JQ; Weiner, Michael W MW; Green, Robert C RC; Toga, Arthur W AW; Saykin, Andrew J AJ; ,

Publication Date: 2016-08-12

Variant appearance in text: PSEN1: E318G

PubMed Link: 27535542

Variant Present in the following documents:

• Main text
• 12920_2016_Article_190.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: PSEN1: E318G

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: PSEN1: 953A>G; E318G; rs17125721

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

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Presenilin E318G variant and Alzheimer's disease risk: the Cache County study.

Bmc Genomics

Hippen, Ariel A AA; Ebbert, Mark T W MT; Norton, Maria C MC; Tschanz, JoAnn T JT; Munger, Ronald G RG; Corcoran, Christopher D CD; Kauwe, John S K JS

Publication Date: 2016-06-29

Variant appearance in text: PSEN1: E318G; rs17125721

PubMed Link: 27357204

Variant Present in the following documents:

• Main text

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Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies.

Neurobiology Of Disease

Geiger, Joshua T JT; Ding, Jinhui J; Crain, Barbara B; Pletnikova, Olga O; Letson, Christopher C; Dawson, Ted M TM; Rosenthal, Liana S LS; Pantelyat, Alexander A; Gibbs, J Raphael JR; Albert, Marilyn S MS; Hernandez, Dena G DG; Hillis, Argye E AE; Stone, David J DJ; Singleton, Andrew B AB; , ; Hardy, John A JA; Troncoso, Juan C JC; Scholz, Sonja W SW

Publication Date: 2016-10

Variant appearance in text: PSEN1: 953A>G; E318G; rs17125721

PubMed Link: 27312774

Variant Present in the following documents:

• Main text

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Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease.

Molecular Neurodegeneration

Benitez, Bruno A BA; Davis, Albert A AA; Jin, Sheng Chih SC; Ibanez, Laura L; Ortega-Cubero, Sara S; Pastor, Pau P; Choi, Jiyoon J; Cooper, Breanna B; Perlmutter, Joel S JS; Cruchaga, Carlos C

Publication Date: 2016-04-19

Variant appearance in text: PSEN1: E318G

PubMed Link: 27094865

Variant Present in the following documents:

• 13024_2016_Article_97.pdf

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