Publications:

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Follicular helper T cell signature of replicative exhaustion, apoptosis, and senescence in common variable immunodeficiency.

European Journal Of Immunology

Milardi, Giulia G; Di Lorenzo, Biagio B; Gerosa, Jolanda J; Barzaghi, Federica F; Di Matteo, Gigliola G; Omrani, Maryam M; Jofra, Tatiana T; Merelli, Ivan I; Barcella, Matteo M; Filippini, Matteo M; Conti, Anastasia A; Ferrua, Francesca F; Pozzo Giuffrida, Francesco F; Dionisio, Francesca F; Rovere-Querini, Patrizia P; Marktel, Sarah S; Assanelli, Andrea A; Piemontese, Simona S; Brigida, Immacolata I; Zoccolillo, Matteo M; Cirillo, Emilia E; Giardino, Giuliana G; Danieli, Maria Giovanna MG; Specchia, Fernando F; Pacillo, Lucia L; Di Cesare, Silvia S; Giancotta, Carmela C; Romano, Francesca F; Matarese, Alessandro A; Chetta, Alfredo Antonio AA; Trimarchi, Matteo M; Laurenzi, Andrea A; De Pellegrin, Maurizio M; Darin, Silvia S; Montin, Davide D; Marinoni, Maddalena M; Dellepiane, Rosa Maria RM; Sordi, Valeria V; Lougaris, Vassilios V; Vacca, Angelo A; Melzi, Raffaella R; Nano, Rita R; Azzari, Chiara C; Bongiovanni, Lucia L; Pignata, Claudio C; Cancrini, Caterina C; Plebani, Alessandro A; Piemonti, Lorenzo L; Petrovas, Constantinos C; Di Micco, Raffaella R; Ponzoni, Maurilio M; Aiuti, Alessandro A; Cicalese, Maria Pia MP; Fousteri, Georgia G

Publication Date: 2022-07

Variant appearance in text: MST1: 1012T>C; Cys338Arg

PubMed Link: 35562849

Variant Present in the following documents:

• Main text
• EJI-52-1171.pdf

View BVdb publication page

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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: MST1: 1012T>C; rs71324987

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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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: MST1: 1012T>C; C338R; rs71324987

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s003.xlsx, sheet 1

View BVdb publication page

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Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.

Genome Medicine

Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA

Publication Date: 2017-05-24

Variant appearance in text: MST1: C338R

PubMed Link: 28539123

Variant Present in the following documents:

• 13073_2017_434_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A

Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA

Publication Date: 2014

Variant appearance in text: MST1: C338R; rs71324987

PubMed Link: 25469153

Variant Present in the following documents:

• 12979_2014_19_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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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: MST1: C338R; rs71324987

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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