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

Clinical relevance of mosaic variants detected by exome sequencing

外显子组测序检测到的嵌合变异的临床意义

Ghosh, Rajarshi; Fazal, Zeeshan; Oler, Andrew J; Tokita, Mari J; Lewis, Katie L; Paul, Alexander J; Schmitz, Elizabeth G; Saucier, Nermina; Yan, Jia; Kamen, Michael; Seifert, Bryce A; Klion, Amy D; Khoury, Paneez; Delmonte, Ottavia M; Notarangelo, Luigi D; Freeman, Alexandra F; Zerbe, Christa S; Uzel, Gulbu; Metcalfe, Dean D; Komarow, Hirsh D; Carter, Melody C; McDermott, David H; Murphy, Philip M; Olivier, Kenneth N; Fuss, Ivan; Strober, Warren; Rao, V Koneti; Bergerson, Jenna R E; Almeida de Jesus, Adriana; Goldbach-Mansky, Raphaela; Al-Herz, Waleed; Holland, Steven M; Cooper, Megan A; Similuk, Morgan N; Walkiewicz, Magdalena A

Cryptic Binding Pockets in PDC‑3 β‑Lactamase Modulate Resistance Profiles

PDC-3 β-内酰胺酶中的隐蔽结合口袋调节耐药谱

Chen, Shuang; Attana, Fedaa; Hujer, Andrea M; Bethel, Christopher R; Taracila, Magdalena A; Bonomo, Robert A; Haider, Shozeb

Adjusting PSC culture for neural organoid generation

调整PSC培养以生成神经类器官

Sutcliffe, Magdalena A; Jensen, Pia; Tan, Joycelyn; Morris, Charles A J; Fazakerley, Daniel J; Larsen, Martin R; Lancaster, Madeline A

TNG260 Is a Small-Molecule CoREST Inhibitor That Sensitizes STK11-Mutant Tumors to Anti-PD-1 Immunotherapy.

TNG260 是一种小分子 CoREST 抑制剂,可使 STK11 突变肿瘤对 PD-1 抗肿瘤免疫疗法敏感。

Ahronian Leanne G, Sahu Soumyadip, Zhang Minjie, Patel Ayushi S, Geng Ke, Bhattacharya Reshmee, Falchook Gerald S, Goldman Jonathan W, Spira Alexander I, Punekar Salman R, Spigel David R, Wang Judy S, Skoulidis Ferdinandos, Stephens Janaye, Meynardie Mary, Powell Jaylen M, Lopez Alfonso, Ranieri Michela, Ploszaj Magdalena A, Tan Yi Jer, Lee Yeuan Ting, Yu Yi, Deng Jiehui, Chen Ting, McCarren Patrick, Tsai Alice, Hussain Suleman S, Doyon Brian, Amemiya Kenjie, Ermolieff Jacques, Shahagadkar Preksha, Das Nikitha M, Flynn Lauren R, Shields Julie A, Danielczyk Laney, McMillan Brian J, Mignault Andre, Meier Samuel R, Wu Hsin-Jung, Guerin David J, Whittington Douglas A, Min Chengyin, Sienczylo Iga, Maxwell John P, DiBenedetto Heather J, Watanabe Hideo, Haines Brian B, Huang Alan, Crystal Adam, Andersen Jannik N, Wu Xinyuan, Wong Kwok-Kin

Translocations can drive expression changes of multiple genes in regulons covering entire chromosome arms

染色体易位可驱动覆盖整个染色体臂的调控子中多个基因的表达改变。

Anna Oncins ,Roser Zaurin ,Houyem Toukabri ,Kimberly Quililan ,José R Hernández Mora ,Magdalena A Karpinska ,Erik Wernersson ,Alastair Smith ,Agostina Bianchi ,Leone Albinati ,Luca Cozzuto ,Andrea Rivero ,Chloe Gulliver ,Jessica Velten ,Johanna Denkena ,François Serra ,Raúl Gómez ,Cristina López ,Sílvia Beà ,Jonas Paulsen ,Nadia Halidi ,Alfonso Valencia ,Magda Bienko ,A Marieke Oudelaar ,Renée Beekman

Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.

对人类 RAG 缺陷的多组学分析揭示了独特的免疫失调模式,但具有共同的炎症特征。

Bosticardo Marita, Dobbs Kerry, Delmonte Ottavia M, Martins Andrew J, Pala Francesca, Kawai Tomoki, Kenney Heather, Magro Gloria, Rosen Lindsey B, Yamazaki Yasuhiro, Yu Hsin-Hui, Calzoni Enrica, Lee Yu Nee, Liu Can, Stoddard Jennifer, Niemela Julie, Fink Danielle, Castagnoli Riccardo, Ramba Meredith, Cheng Aristine, Riley Deanna, Oikonomou Vasileios, Shaw Elana, Belaid Brahim, Keles Sevgi, Al-Herz Waleed, Cancrini Caterina, Cifaldi Cristina, Baris Safa, Sharapova Svetlana, Schuetz Catharina, Gennery Andrew R, Freeman Alexandra F, Somech Raz, Choo Sharon, Giliani Silvia C, Güngör Tayfun, Drozdov Daniel, Meyts Isabelle, Moshous Despina, Neven Benedicte, Abraham Roshini S, El-Marsafy Aisha, Kanariou Maria, King Alejandra, Licciardi Francesco, Cruz-Muñoz Mario E, Palma Paolo, Poli Cecilia, Adeli Mehdi, Algeri Mattia, Alroqi Fayhan J, Bastard Paul, Bergerson Jenna R E, Booth Claire, Brett Ana, Burns Siobhan O, Butte Manish J, Padem Nurcicek, de la Morena M, Dbaibo Ghassan, de Ravin Suk See, Dimitrova Dimana, Djidjik Reda, Dorna Mayra B, Dutmer Cullen M, Elfeky Reem, Facchetti Fabio, Fuleihan Ramsay L, Geha Raif S, Gonzalez-Granado Luis I, Haljasmägi Liis, Ale Hanadys, Hayward Anthony, Hifanova Anna M, Ip Winnie, Kaplan Blanka, Kapoor Neena, Karakoc-Aydiner Elif, Kärner Jaanika, Keller Michael D, Dávila Saldaña Blachy J, Kiykim Ayça, Kuijpers Taco W, Kuznetsova Elena E, Latysheva Elena A, Leiding Jennifer W, Locatelli Franco, Alva-Lozada Guisela, McCusker Christine, Celmeli Fatih, Morsheimer Megan, Ozen Ahmet, Parvaneh Nima, Pasic Srdjan, Plebani Alessandro, Preece Kahn, Prockop Susan, Sakovich Inga S, Starkova Elena E, Torgerson Troy, Verbsky James, Walter Jolan E, Ward Brant, Wisner Elizabeth L, Draper Deborah, Myint-Hpu Katherine, Truong Pooi M, Lionakis Michail S, Similuk Morgan B, Walkiewicz Magdalena A, Klion Amy, Holland Steven M, Oguz Cihan, Bogunovic Dusan, Kisand Kai, Su Helen C, Tsang John S, Kuhns Douglas, Villa Anna, Rosenzweig Sergio D, Pittaluga Stefania, Notarangelo Luigi D

Neuronal type-specific modulation of cognition and AP-1 signaling by early-life rearing conditions.

早期生活条件对认知和 AP-1 信号传导的神经元类型特异性调节。

Alaiz-Noya Marta, Miozzo Federico, Fuentes-Ramos Miguel, Machnicka Magdalena A, Kurowska Marcelina, Herrera Macarena L, Del Blanco Beatriz, Ninerola Sergio, Bustos-Martínez Isabel, Wilczynski Bartek, Barco Angel

ANXA11 biomolecular condensates facilitate protein-lipid phase coupling on lysosomal membranes.

ANXA11 生物分子凝聚体促进溶酶体膜上的蛋白质-脂质相偶联

Nixon-Abell Jonathon, Ruggeri Francesco S, Qamar Seema, Herling Therese W, Czekalska Magdalena A, Shen Yi, Wang Guozhen, King Christopher, Fernandopulle Michael S, Sneideris Tomas, Watson Joseph L, Pillai Visakh V S, Meadows William, Henderson James W, Chambers Joseph E, Wagstaff Jane L, Williams Sioned H, Coyle Helena, Šneiderienė Greta, Lu Yuqian, Zhang Shuyuan, Marciniak Stefan J, Freund Stefan M V, Derivery Emmanuel, Ward Michael E, Vendruscolo Michele, Knowles Tuomas P J, St George-Hyslop Peter

CTCF depletion decouples enhancer-mediated gene activation from chromatin hub formation

CTCF 缺失会使增强子介导的基因激活与染色质中心形成脱钩

Magdalena A Karpinska #,Yi Zhu #,Zahra Fakhraei Ghazvini,Shyam Ramasamy,Mariano Barbieri,T B Ngoc Cao,Natalie Varahram,Abrar Aljahani ,Michael Lidschreiber,Argyris Papantonis,A Marieke Oudelaar

CTCF depletion decouples enhancer-mediated gene activation from chromatin hub formation

CTCF 缺失会使增强子介导的基因激活与染色质中心形成脱钩

Magdalena A Karpinska # ,Yi Zhu # ,Zahra Fakhraei Ghazvini ,Shyam Ramasamy ,Mariano Barbieri ,T B Ngoc Cao ,Natalie Varahram ,Abrar Aljahani ,Michael Lidschreiber ,Argyris Papantonis ,A Marieke Oudelaar