Publications:

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Kras oncogene ablation prevents resistance in advanced lung adenocarcinoma.

The Journal Of Clinical Investigation

Salmón, Marina M; Álvarez-Díaz, Ruth R; Fustero-Torre, Coral C; Brehey, Oksana O; Lechuga, Carmen G CG; Sanclemente, Manuel M; Fernández-García, Fernando F; López-García, Alejandra A; Martín-Guijarro, María Carmen MC; Rodríguez-Perales, Sandra S; Bousquet-Mur, Emily E; Morales-Cacho, Lucía L; Mulero, Francisca F; Al-Shahrour, Fátima F; Martínez, Lola L; Domínguez, Orlando O; Caleiras, Eduardo E; Ortega, Sagrario S; Guerra, Carmen C; Musteanu, Monica M; Drosten, Matthias M; Barbacid, Mariano M

Publication Date: 2023-03-16

Variant appearance in text: GC: 808T>G; Ser270Ala

PubMed Link: 36928090

Variant Present in the following documents:

• jci-133-164413-s193.xlsx, sheet 1

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Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.

The Lancet. Oncology

Garcia-Pelaez, José J; Barbosa-Matos, Rita R; Lobo, Silvana S; Dias, Alexandre A; Garrido, Luzia L; Castedo, Sérgio S; Sousa, Sónia S; Pinheiro, Hugo H; Sousa, Liliana L; Monteiro, Rita R; Maqueda, Joaquin J JJ; Fernandes, Susana S; Carneiro, Fátima F; Pinto, Nádia N; Lemos, Carolina C; Pinto, Carla C; Teixeira, Manuel R MR; Aretz, Stefan S; Bajalica-Lagercrantz, Svetlana S; Balmaña, Judith J; Blatnik, Ana A; Benusiglio, Patrick R PR; Blanluet, Maud M; Bours, Vicent V; Brems, Hilde H; Brunet, Joan J; Calistri, Daniele D; Capellá, Gabriel G; Carrera, Sergio S; Colas, Chrystelle C; Dahan, Karin K; de Putter, Robin R; Desseignés, Camille C; Domínguez-Garrido, Elena E; Egas, Conceição C; Evans, D Gareth DG; Feret, Damien D; Fewings, Eleanor E; Fitzgerald, Rebecca C RC; Coulet, Florence F; Garcia-Barcina, María M; Genuardi, Maurizio M; Golmard, Lisa L; Hackmann, Karl K; Hanson, Helen H; Holinski-Feder, Elke E; Hüneburg, Robert R; Krajc, Mateja M; Lagerstedt-Robinson, Kristina K; Lázaro, Conxi C; Ligtenberg, Marjolijn J L MJL; Martínez-Bouzas, Cristina C; Merino, Sonia S; Michils, Geneviève G; Novaković, Srdjan S; Patiño-García, Ana A; Ranzani, Guglielmina Nadia GN; Schröck, Evelin E; Silva, Inês I; Silveira, Catarina C; Soto, José L JL; Spier, Isabel I; Steinke-Lange, Verena V; Tedaldi, Gianluca G; Tejada, María-Isabel MI; Woodward, Emma R ER; Tischkowitz, Marc M; Hoogerbrugge, Nicoline N; Oliveira, Carla C

Publication Date: 2022-11-24

Variant appearance in text: GC: 808T>G

PubMed Link: 36436516

Variant Present in the following documents:

• mmc1.pdf

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A DARPin-based molecular toolset to probe gephyrin and inhibitory synapse biology.

Elife

Campbell, Benjamin F N BFN; Dittmann, Antje A; Dreier, Birgit B; Plückthun, Andreas A; Tyagarajan, Shiva K SK

Publication Date: 2022-10-31

Variant appearance in text: GC: S270A

PubMed Link: 36314779

Variant Present in the following documents:

• Main text
• elife-80895.pdf

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Cross-talk between GABAergic postsynapse and microglia regulate synapse loss after brain ischemia.

Science Advances

Cramer, Teresa T; Gill, Raminder R; Thirouin, Zahra S ZS; Vaas, Markus M; Sampath, Suchita S; Martineau, Fanny F; Noya, Sara B SB; Panzanelli, Patrizia P; Sudharshan, Tania J J TJJ; Colameo, David D; Chang, Philip K-Y PK; Wu, Pei You PY; Shi, Roy R; Barker, Philip A PA; Brown, Steven A SA; Paolicelli, Rosa C RC; Klohs, Jan J; McKinney, Rebecca Anne RA; Tyagarajan, Shiva K SK

Publication Date: 2022-03-04

Variant appearance in text: GC: S270A

PubMed Link: 35245123

Variant Present in the following documents:

• sciadv.abj0112.pdf

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Genetic dynamics in untreated CLL patients with either stable or progressive disease: a longitudinal study.

Journal Of Hematology & Oncology

Ramassone, Alice A; D'Argenio, Andrea A; Veronese, Angelo A; Basti, Alessio A; Soliman, Shimaa Hassan AbdelAziz SHA; Volinia, Stefano S; Bassi, Cristian C; Pagotto, Sara S; Ferracin, Manuela M; Lupini, Laura L; Saccenti, Elena E; Balatti, Veronica V; Pepe, Felice F; Rassenti, Laura Z LZ; Innocenti, Idanna I; Autore, Francesco F; Marzetti, Laura L; Mariani-Costantini, Renato R; Kipps, Thomas J TJ; Negrini, Massimo M; Laurenti, Luca L; Visone, Rosa R

Publication Date: 2019-11-19

Variant appearance in text: GC: 808T>G

PubMed Link: 31744508

Variant Present in the following documents:

• 13045_2019_802_MOESM6_ESM.xlsx, sheet 3

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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: GC: 808T>G; Ser270Ala

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

Journal Of Medical Genetics

Decker, Brennan B; Allen, Jamie J; Luccarini, Craig C; Pooley, Karen A KA; Shah, Mitul M; Bolla, Manjeet K MK; Wang, Qin Q; Ahmed, Shahana S; Baynes, Caroline C; Conroy, Don M DM; Brown, Judith J; Luben, Robert R; Ostrander, Elaine A EA; Pharoah, Paul Dp PD; Dunning, Alison M AM; Easton, Douglas F DF

Publication Date: 2017-11

Variant appearance in text: GC: 808T>G

PubMed Link: 28779002

Variant Present in the following documents:

• jmedgenet-2017-104588supp005.pdf

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Pin1-dependent signalling negatively affects GABAergic transmission by modulating neuroligin2/gephyrin interaction.

Nature Communications

Antonelli, Roberta R; Pizzarelli, Rocco R; Pedroni, Andrea A; Fritschy, Jean-Marc JM; Del Sal, Giannino G; Cherubini, Enrico E; Zacchi, Paola P

Publication Date: 2014-10-09

Variant appearance in text: GC: S270A

PubMed Link: 25297980

Variant Present in the following documents:

• Main text
• ncomms6066.pdf

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Extracellular signal-regulated kinase and glycogen synthase kinase 3β regulate gephyrin postsynaptic aggregation and GABAergic synaptic function in a calpain-dependent mechanism.

The Journal Of Biological Chemistry

Tyagarajan, Shiva K SK; Ghosh, Himanish H; Yévenes, Gonzalo E GE; Imanishi, Susumu Y SY; Zeilhofer, Hanns Ulrich HU; Gerrits, Bertran B; Fritschy, Jean-Marc JM

Publication Date: 2013-04-05

Variant appearance in text: GC: S270A

PubMed Link: 23408424

Variant Present in the following documents:

• Main text

View BVdb publication page

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