Publications:

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The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.

Neurology

Senderek, Jan J; Lassuthova, Petra P; Kabzińska, Dagmara D; Abreu, Lisa L; Baets, Jonathan J; Beetz, Christian C; Braathen, Geir J GJ; Brenner, David D; Dalton, Joline J; Dankwa, Lois L; Deconinck, Tine T; De Jonghe, Peter P; Dräger, Bianca B; Eggermann, Katja K; Ellis, Melina M; Fischer, Carina C; Stojkovic, Tanya T; Herrmann, David N DN; Horvath, Rita R; Høyer, Helle H; Iglseder, Stephan S; Kennerson, Marina M; Kinslechner, Katharina K; Kohler, Jennefer N JN; Kurth, Ingo I; Laing, Nigel G NG; Lamont, Phillipa J PJ; Wolfgang N, Löscher L; Ludolph, Albert A; Marques, Wilson W; Nicholson, Garth G; Ong, Royston R; Petri, Susanne S; Ravenscroft, Gianina G; Rebelo, Adriana A; Ricci, Giulia G; Rudnik-Schöneborn, Sabine S; Schirmacher, Anja A; Schlotter-Weigel, Beate B; Schoels, Ludger L; Schüle, Rebecca R; Synofzik, Matthis M; Francou, Bruno B; Strom, Tim M TM; Wagner, Johannes J; Walk, David D; Wanschitz, Julia J; Weinmann, Daniela D; Weishaupt, Jochen J; Wiessner, Manuela M; Windhager, Reinhard R; Young, Peter P; Züchner, Stephan S; Toegel, Stefan S; Seeman, Pavel P; Kochański, Andrzej A; Auer-Grumbach, Michaela M

Publication Date: 2020-12-15

Variant appearance in text: MME: Val345Ile

PubMed Link: 33144514

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: MME: 1033G>A; V345I; rs61758194

PubMed Link: 32345996

Variant Present in the following documents:

• 41598_2020_63183_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: MME: V345I

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1
• mmc6.xlsx, sheet 2

View BVdb publication page

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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: MME: 1033G>A; Val345Ile

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

View BVdb publication page

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A genome-wide analysis in cluster headache points to neprilysin and PACAP receptor gene variants.

The Journal Of Headache And Pain

Bacchelli, Elena E; Cainazzo, Maria Michela MM; Cameli, Cinzia C; Guerzoni, Simona S; Martinelli, Angela A; Zoli, Michele M; Maestrini, Elena E; Pini, Luigi Alberto LA

Publication Date: 2016-12

Variant appearance in text: MME: V345I; rs61758194

PubMed Link: 27957625

Variant Present in the following documents:

• Main text
• 10194_2016_Article_705.pdf

View BVdb publication page

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Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.

Plos One

Sassi, Celeste C; Ridge, Perry G PG; Nalls, Michael A MA; Gibbs, Raphael R; Ding, Jinhui J; Lupton, Michelle K MK; Troakes, Claire C; Lunnon, Katie K; Al-Sarraj, Safa S; Brown, Kristelle S KS; Medway, Christopher C; Lord, Jenny J; Turton, James J; , ; Morgan, Kevin K; Powell, John F JF; Kauwe, John S JS; Cruchaga, Carlos C; Bras, Jose J; Goate, Alison M AM; Singleton, Andrew B AB; Guerreiro, Rita R; Hardy, John J

Publication Date: 2016

Variant appearance in text: MME: V345I; rs61758194

PubMed Link: 27249223

Variant Present in the following documents:

• pone.0150079.s002.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: MME: V345I; rs61758194

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 3

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: MME: V345I; rs61758194

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Natriuretic peptide pharmacogenetics: membrane metallo-endopeptidase (MME): common gene sequence variation, functional characterization and degradation.

Journal Of Molecular And Cellular Cardiology

Pereira, Naveen L NL; Aksoy, Pinar P; Moon, Irene I; Peng, Yi Y; Redfield, Margaret M MM; Burnett, John C JC; Wieben, Eric D ED; Yee, Vivien C VC; Weinshilboum, Richard M RM

Publication Date: 2010-11

Variant appearance in text: MME: Val345Ile

PubMed Link: 20692264

Variant Present in the following documents:

• Main text

View BVdb publication page

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