日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Hormonally upregulated neu tumor-associated kinase (HUNK) modulates gastric cancer progression through the regulation of cell homeostasis.

激素上调的神经肿瘤相关激酶(HUNK)通过调节细胞稳态来调节胃癌的进展

di Paola Giuseppina, Albano Francesco, Zoppoli Pietro, Bravoco Daniele, D'Amore Teresa, Amendola Elena, Lucci Valeria, Roberto Luca, Brancaccio Mariarita, Salerno Paolo, Calice Giovanni, Laurino Simona, Russi Sabino, De Stefano Cristofaro, Maiello Monica, Merla Giuseppe, Falco Geppino, Mazzone Pellegrino

BH3 mimetic drugs overcome the microenvironment-induced resistance to crizotinib in ALK+ anaplastic large cell lymphoma

BH3 模拟药物可克服 ALK+ 间变性大细胞淋巴瘤中微环境诱导的克唑替尼耐药性

Pignataro, Claudia; Zoppoli, Pietro; Cappelli, Luca Vincenzo; Yoffe, Liron; Moretti, Marta; Izzo, Mariapaola; Mallia, Selene; Kayembe, Clarisse; Taylor, Abigail; Petrillo, Gianluca; Affinito, Alessandra; Quintavalle, Cristina; De Luca, Giada; Mascolo, Martina; Verde, Sara; Fraticelli, Aurelia; Ciarrocchi, Alessia; Salerno, Paolo; De Smaele, Enrico; Campese, Antonio Francesco; Fragliasso, Valentina; Foà, Robin; Merla, Giuseppe; Inghirami, Giorgio; Condorelli, Gerolama; Fiore, Danilo

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.

PLCG1 的杂合变异会影响听力、视力、心脏和免疫功能

Ma Mengqi, Zheng Yiming, Deng Mingxi, Lu Shenzhao, Pan Xueyang, Luo Xi, Etoundi Michelle, Li-Kroeger David, Worley Kim C, Burrage Lindsay C, Blieden Lauren S, Allworth Aimee, Chen Wei-Liang, Merla Giuseppe, Mandriani Barbara, Otten Catherine E, Blanc Pierre, Rosenfeld Jill A, Dutta Debdeep, Yamamoto Shinya, Wangler Michael F, Glass Ian A, Chen Jingheng, Blue Elizabeth, Prontera Paolo, Rosain Jeremie, Marlin Sandrine, Lalani Seema R, Bellen Hugo J

A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au-Kline Syndrome

HNRNPK KH3结构域中的一种新型内含子变异导致轻型奥克莱恩综合征

Mingoia, Maura; Meloni, Alessandra; Sedda, Silvia; Choufani, Sanaa; Asunis, Isadora; Gemma, Giorgia; Ammendola, Antonio; Torabi-Marashi, Arteen; di Venere, Eleonora; Squeo, Gabriella Maria; Rallo, Vincenzo; Marini, Maria Giuseppina; Moi, Paolo; Savasta, Salvatore; Weksberg, Rosanna; Merla, Giuseppe; Angius, Andrea

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function

PLCG1基因的杂合变异会影响听力、视力、心脏和免疫功能。

Ma, Mengqi; Zheng, Yiming; Deng, Mingxi; Lu, Shenzhao; Pan, Xueyang; Luo, Xi; Etoundi, Michelle; Li-Kroeger, David; Worley, Kim C; Burrage, Lindsay C; Blieden, Lauren S; Allworth, Aimee; Chen, Wei-Liang; Merla, Giuseppe; Mandriani, Barbara; Otten, Catherine E; Blanc, Pierre; Rosenfeld, Jill A; Dutta, Debdeep; Yamamoto, Shinya; Wangler, Michael F; Glass, Ian A; Chen, Jingheng; Blue, Elizabeth; Prontera, Paolo; Rosain, Jeremie; Marlin, Sandrine; Lalani, Seema R; Bellen, Hugo J

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

对 EHMT1 变异体的全面分析拓宽了 Kleefstra 综合征的基因型-表型关联和分子机制。

Rots, Dmitrijs; Bouman, Arianne; Yamada, Ayumi; Levy, Michael; Dingemans, Alexander J M; de Vries, Bert B A; Ruiterkamp-Versteeg, Martina; de Leeuw, Nicole; Ockeloen, Charlotte W; Pfundt, Rolph; de Boer, Elke; Kummeling, Joost; van Bon, Bregje; van Bokhoven, Hans; Kasri, Nael Nadif; Venselaar, Hanka; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Kuechler, Alma; Elffers, Bart; van Beeck Calkoen, Rixje; Hofman, Susanna; Smith, Audrey; Valenzuela, Maria Irene; Srivastava, Siddharth; Frazier, Zoe; Maystadt, Isabelle; Piscopo, Carmelo; Merla, Giuseppe; Balasubramanian, Meena; Santen, Gijs W E; Metcalfe, Kay; Park, Soo-Mi; Pasquier, Laurent; Banka, Siddharth; Donnai, Dian; Weisberg, Daniel; Strobl-Wildemann, Gertrud; Wagemans, Annemieke; Vreeburg, Maaike; Baralle, Diana; Foulds, Nicola; Scurr, Ingrid; Brunetti-Pierri, Nicola; van Hagen, Johanna M; Bijlsma, Emilia K; Hakonen, Anna H; Courage, Carolina; Genevieve, David; Pinson, Lucile; Forzano, Francesca; Deshpande, Charu; Kluskens, Maria L; Welling, Lindsey; Plomp, Astrid S; Vanhoutte, Els K; Kalsner, Louisa; Hol, Janna A; Putoux, Audrey; Lazier, Johanna; Vasudevan, Pradeep; Ames, Elizabeth; O'Shea, Jessica; Lederer, Damien; Fleischer, Julie; O'Connor, Mary; Pauly, Melissa; Vasileiou, Georgia; Reis, André; Kiraly-Borri, Catherine; Bouman, Arjan; Barnett, Chris; Nezarati, Marjan; Borch, Lauren; Beunders, Gea; Özcan, Kübra; Miot, Stéphanie; Volker-Touw, Catharina M L; van Gassen, Koen L I; Cappuccio, Gerarda; Janssens, Katrien; Mor, Nofar; Shomer, Inna; Dominissini, Dan; Tedder, Matthew L; Muir, Alison M; Sadikovic, Bekim; Brunner, Han G; Vissers, Lisenka E L M; Shinkai, Yoichi; Kleefstra, Tjitske

Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome

基质组和免疫通路在威廉姆斯-博伊伦综合征中导致极端血管并发症

Liu, Delong; Billington, Charles J Jr; Raja, Neelam; Wong, Zoe C; Levin, Mark D; Resch, Wulfgang; Alba, Camille; Hupalo, Daniel N; Biamino, Elisa; Bedeschi, Maria Francesca; Digilio, Maria Cristina; Squeo, Gabriella Maria; Villa, Roberta; Parrish, Pheobe C R; Knutsen, Russell H; Osgood, Sharon; Freeman, Joy A; Dalgard, Clifton L; Merla, Giuseppe; Pober, Barbara R; Mervis, Carolyn B; Roberts, Amy E; Morris, Colleen A; Osborne, Lucy R; Kozel, Beth A

DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism

歌舞伎综合征的DNA甲基化谱分析:生殖系KMT2D VUS的重新分类及验证合子后嵌合体的敏感性

Niceta, Marcello; Ciolfi, Andrea; Ferilli, Marco; Pedace, Lucia; Cappelletti, Camilla; Nardini, Claudia; Hildonen, Mathis; Chiriatti, Luigi; Miele, Evelina; Dentici, Maria Lisa; Gnazzo, Maria; Cesario, Claudia; Pisaneschi, Elisa; Baban, Anwar; Novelli, Antonio; Maitz, Silvia; Selicorni, Angelo; Squeo, Gabriella Maria; Merla, Giuseppe; Dallapiccola, Bruno; Tumer, Zeynep; Digilio, Maria Cristina; Priolo, Manuela; Tartaglia, Marco

Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data

二代和三代测序数据中种系变异和DNA甲基化分析的最佳实践

Bonfiglio, Ferdinando; Legati, Andrea; Lasorsa, Vito Alessandro; Palombo, Flavia; De Riso, Giulia; Isidori, Federica; Russo, Silvia; Furini, Simone; Merla, Giuseppe; Coppedè, Fabio; Tartaglia, Marco; Bruselles, Alessandro; Pippucci, Tommaso; Ciolfi, Andrea; Pinelli, Michele; Capasso, Mario

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes

检测到Chung-Jansen综合征的强表观遗传特征,该特征与Börjeson-Forssman-Lehmann综合征和White-Kernohan综合征部分重叠。

Vos, Niels; Haghshenas, Sadegheh; van der Laan, Liselot; Russel, Perle K M; Rooney, Kathleen; Levy, Michael A; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Maas, Saskia M; Vissers, Lisenka E L M; de Vries, Bert B A; Pfundt, Rolph; Elting, Mariet W; van Hagen, Johanna M; Verbeek, Nienke E; Jongmans, Marjolijn C J; Lakeman, Phillis; Rumping, Lynne; Bosch, Danielle G M; Vitobello, Antonio; Thauvin-Robinet, Christel; Faivre, Laurence; Nambot, Sophie; Garde, Aurore; Willems, Marjolaine; Genevieve, David; Nicolas, Gaël; Busa, Tiffany; Toutain, Annick; Gérard, Marion; Bizaoui, Varoona; Isidor, Bertrand; Merla, Giuseppe; Accadia, Maria; Schwartz, Charles E; Ounap, Katrin; Hoffer, Mariëtte J V; Nezarati, Marjan M; van den Boogaard, Marie-José H; Tedder, Matthew L; Rogers, Curtis; Brusco, Alfredo; Ferrero, Giovanni B; Spodenkiewicz, Marta; Sidlow, Richard; Mussa, Alessandro; Trajkova, Slavica; McCann, Emma; Mroczkowski, Henry J; Jansen, Sandra; Donker-Kaat, Laura; Duijkers, Floor A M; Stuurman, Kyra E; Mannens, Marcel M A M; Alders, Mariëlle; Henneman, Peter; White, Susan M; Sadikovic, Bekim; van Haelst, Mieke M