日期:
2020 年 — 2026 年
2020
2021
2022
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2026
影响因子:

To sign or not to sign: Is this still the question?

签字还是不签字:这还是个问题吗?

Tartaglia, Marco; Ciolfi, Andrea

Wnt/β-catenin activation by mutually exclusive FBXW11 and CTNNB1 hotspot mutations drives salivary basal cell adenoma.

FBXW11 和 CTNNB1 热点突变相互排斥,激活 Wnt/β-catenin,从而驱动唾液腺基底细胞腺瘤的发生

Wong Kim, Bishop Justin A, Weinreb Ilan, Motta Marialetizia, Del Castillo Velasco-Herrera Martin, Bellacchio Emanuele, Ferreira Ingrid, van der Weyden Louise, Boccacino Jacqueline M, Lauri Antonella, Rotundo Giovannina, Ciolfi Andrea, Cheema Saamin, Olvera-León Rebeca, Offord Victoria, Droop Alastair, Vermes Ian, Allgäuer Michael, Hyrcza Martin, Anderson Elizabeth, Smith Katie, de Saint Aubain Nicolas, Mogler Carolin, Stenzinger Albrecht, Arends Mark J, Brenn Thomas, Tartaglia Marco, Adams David J

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia

PTBP1 变异体表现出核质分布改变,是导致伴有骨骼发育不良的神经发育障碍的原因。

Masson, Aymeric; Paccaud, Julien; Orefice, Martina; Colin, Estelle; Mäkitie, Outi; Cormier-Daire, Valérie; Relator, Raissa; Ghosh, Sourav; Strub, Jean-Marc; Schaeffer-Reiss, Christine; Marcelis, Carlo; Koolen, David A; Pfundt, Rolph; de Boer, Elke; Vissers, Lisenka Elm; Gardeitchik, Thatjana; Aarts, Lonneke Am; Rinne, Tuula; Terhal, Paulien A; Verbeek, Nienke E; Zuurbier, Linda C; Plomp, Astrid S; Wessels, Marja W; de Man, Stella A; Bouman, Arjan; Bird, Lynne M; Saadeh-Haddad, Reem; Guillen Sacoto, Maria J; Person, Richard; Gooch, Catherine; Hurst, Anna Ce; Thompson, Michelle L; Hiatt, Susan M; Littlejohn, Rebecca O; Roeder, Elizabeth R; Mori, Mari; Hickey, Scott E; Hunter, Jesse M; Lee, Kristy; Osman, Khaled; Halloun, Rana; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Wieczorek, Dagmar; Platzer, Konrad; Luppe, Johannes; Duplomb-Jego, Laurence; El It, Fatima; Duffourd, Yannis; Tran Mau-Them, Frédéric; Huber, Celine; Gordon, Christopher T; Taylan, Fulya; Mäkitie, Riikka E; Costantini, Alice; Valta, Helena; Robertson, Stephen; Poke, Gemma; Francoise, Michel; Ciolfi, Andrea; Tartaglia, Marco; Ekhilevitch, Nina; Zaid, Rinat; Levy, Michael A; Kerkhof, Jennifer; McConkey, Haley; Delanne, Julian; Chevarin, Martin; Vautrot, Valentin; Bourgeois, Valentin; Nguyen, Sylvie; Marle, Nathalie; Callier, Patrick; Safraou, Hana; Morgan, Angela; Amor, David J; Hildebrand, Michael S; Coman, David; Aubert Mucca, Marion; Thevenon, Julien; Laffargue, Fanny; Bilan, Frédéric; Pebrel-Richard, Céline; Yoon, Grace; Axford, Michelle M; Pérez-Jurado, Luis A; Sevilla-Porras, Marta; Black, Douglas L; Philippe, Christophe; Sadikovic, Bekim; Thauvin-Robinet, Christel; Olivier-Faivre, Laurence; Ori, Michela; Thomas, Quentin; Vitobello, Antonio

ATHB1 Interacts with Hormone-Related Gene Regulatory Networks Involved in Biotic and Abiotic Stress Responses in Arabidopsis

ATHB1与拟南芥中参与生物和非生物胁迫反应的激素相关基因调控网络相互作用

Forte, Valentina; Lucchetti, Sabrina; Ciolfi, Andrea; Felici, Barbara; Possenti, Marco; D'Orso, Fabio; Morelli, Giorgio; Baima, Simona

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci

ZNF142基因的双等位基因功能缺失变异与影响有限数量基因组位点的强效DNA甲基化特征相关。

Hildonen, Mathis; Ciolfi, Andrea; Ferilli, Marco; Cappelletti, Camilla; Al Alam, Chadi; Amor, David J; Barakat, Tahsin Stefan; Benoit, Valérie; Birk, Ohad Shmuel; Callewaert, Bert; Cazurro-Gutiérrez, Ana; De Wachter, Matthias; Doco-Fenzy, Martine; Gómez-Puertas, Paulino; Hammer, Trine Bjørg; Jamra, Rami Abou; Kaiyrzhanov, Rauan; Kameyama, Shinichi; Keren, Boris; Kresge, Christina; Krey, Ilona; Lederer, Damien; Marcos-Alcalde, Iñigo; Maroofian, Reza; Matsumoto, Naomichi; Mizuguchi, Takeshi; Moey, Lip-Hen; Morgan, Angela; Munell, Francina; Platzer, Konrad; Pletcher, Beth A; Ros-Pardo, David; Rumping, Lynne; Szakszon, Katalin; Van Schil, Kristof; Verdura, Edgard; Vogt, Julie; Wassmer, Evangeline; Zamani, Mina; Tümer, Zeynep; Tartaglia, Marco

Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement

SH2B3基因双等位基因变异与新生儿骨髓增生性疾病和多系统受累相关。

Leardini, Davide; Flex, Elisabetta; Stieglitz, Elliot; Cerasi, Sara; Bertuccio, Salvatore Nicola; Baccelli, Francesco; Kállay, Krisztián; Kjollerstrom, Paula; Batalha, Sara; Carpentieri, Giovanna; Pedace, Lucia; Ciolfi, Andrea; Hammad, Mahmoud; Miranda, Maria; Rojas, Marta; Rao, Anupama; Innes, Andrew J; Rudelius, Martina; Santini, Valeria; Raddi, Marco; Teh, Kok-Hoi; De Vito, Rita; Yoshimi, Ayami; Tartaglia, Marco; Locatelli, Franco; Niemeyer, Charlotte M; Masetti, Riccardo

Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants

拓展ReNU综合征的突变谱:对5'茎环变异的深入了解

Bruselles, Alessandro; Mancini, Cecilia; Chiriatti, Luigi; Carvetta, Mattia; Baroni, Maria Chiara; Cappelletti, Camilla; Caraffi, Stefano Giuseppe; Celario, Massimiliano; Ciolfi, Andrea; Cordeddu, Viviana; De Falco, Alessandro; Ferilli, Marco; Garavelli, Livia; Leoni, Chiara; Meossi, Camilla; Niceta, Marcello; Onesimo, Roberta; Peluso, Francesca; Politano, Davide; Priolo, Manuela; Radio, Francesca Clementina; Santorelli, Filippo; Signorini, Sabrina; Sirchia, Fabio; Valente, Enza Maria; Zampino, Giuseppe; Tartaglia, Marco

The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies

HNRNPC中的Arg99Gln替换与一种独特的临床表型相关,其特征为面部畸形以及眼部和耳蜗异常。

Chiriatti, Luigi; Priolo, Manuela; Onesimo, Roberta; Carvetta, Mattia; Leoni, Chiara; Bruselles, Alessandro; Radio, Francesca Clementina; Cappelletti, Camilla; Ferilli, Marco; Ricci, Daniela; Niceta, Marcello; Cordeddu, Viviana; Ciolfi, Andrea; Mancini, Cecilia; Zampino, Giuseppe; Tartaglia, Marco

The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles

TUBB2B 基因中的 p.Ile202Thr 替换可能与先天性眼外肌纤维化的综合征表现相关。

Mancini, Cecilia; Chiriatti, Luigi; Bruselles, Alessandro; D'ambrosio, Paola; Ciolfi, Andrea; Ferilli, Marco; Cappelletti, Camilla; Carvetta, Mattia; Radio, Francesca Clementina; Cordeddu, Viviana; Niceta, Marcello; Parrino, Marta; Capolino, Rossella; Mammì, Corrado; Senese, Rossana; Muto, Mario; Priolo, Manuela; Tartaglia, Marco

Advancing epigenetic signatures as functional biomarkers in rare diseases

将表观遗传特征作为罕见病的功能性生物标志物进行研究

Ciolfi, Andrea; Ferilli, Marco; Cappelletti, Camilla; Tartaglia, Marco