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

Somatic genetic rescue in ZCCHC8-associated telomere biology disorders

ZCCHC8相关端粒生物学疾病的体细胞遗传拯救

de Tocqueville, Sophie; Donaires, Flavia; DeCleene, Nicholas; Ba, Ibrahima; Nouri, Mina; Kermasson, Laëtitia; Chelbi, Malika; Bergot, Emmanuel; Leblanc, Thierry; Borie, Raphael; Philippot, Quentin; Antone, Elise; Prévot, Grégoire; Blanchard, Elodie; Keren, Boris; Lainey, Elodie; Catto, Marilia; Santana, Barbara; Chandrasekharappa, Settara C; Donovan, Frank X; Bazzo Catto, Luiz Fernando; Callebaut, Isabelle; Young, Neal S; Halfon-Domenech, Carine; Calado, Rodrigo T; Bertuch, Alison A; Gutierrez-Rodrigues, Fernanda; Kannengiesser, Caroline; Revy, Patrick

Patient-derived xenograft models of Fanconi anemia-associated head and neck cancer identify personalized therapeutic strategies

利用范可尼贫血相关头颈癌的患者来源异种移植模型,可以确定个体化的治疗策略。

Grandis, Jennifer R; Li, Hua; Harrison, Benjamin A; Webster, Andrew Lh; Pucilowska, Joanna; Nguyen, Austin; Lee, Jinho; Mills, Gordon B; Gencel-Augusto, Jovanka; Zeng, Yan; Long, Steven R; Kim, Mi-Ok; Lee, Rex H; Kutler, David I; Scognamiglio, Theresa; Brandwein-Weber, Margaret; Urken, Mark; Khodos, Inna; de Stanchina, Elisa; Lin, Yu-Chien; Donovan, Frank X; Chandrasekharappa, Settara C; Jung, Moonjung; Sanders, Mathijs A; Smogorzewska, Agata; Johnson, Daniel E

Polygenic risk scores and HLA class II variants are biomarkers of corticosteroid response in childhood nephrotic syndrome

多基因风险评分和HLA II类变异是儿童肾病综合征中皮质类固醇反应的生物标志物。

Tu, Tiffany; Ochoa, Alejandro; Sood, Amika; Dabrik, Ashley; Chryst-Stangl, Megan; Lane, Brandon; Wu, Guanghong; Donovan, Frank; Harper, Ursula; Chandrasekharappa, Settara; Esezobor, Christopher; Solarin, Adaobi; Hooper, David; Sethna, Christine; Amaral, Sandra; Kallash, Mahmoud; Rheault, Michelle; Verghese, Priya; Dharnidharka, Vikas; Salmon, Eloise; Weng, Patricia; Srivastava, Tarak; Seifert, Michael E; Pruette, Cozumel; Selewski, David; Gibson, Keisha; Hunley, Tracy; Abeyagunawardena, Asiri; Thalgahagoda, Shenal; Bagga, Arvind; Sinha, Aditi; Webb, Nicholas; Greenbaum, Larry; Gharavi, Ali; Kiryluk, Krzysztof; Kretzler, Matthias; Guay-Woodford, Lisa; Sanna-Cherchi, Simone; Bierzynska, Agnieszka; Koziell, Ania; Welsh, Gavin; Saleem, Moin; Rotimi, Charles; Chambers, Eileen; Chan, Cliburn; Jackson, Annette; Adeyemo, Adebowale; Gbadegesin, Rasheed

Genetic inactivation of FAAP100 causes Fanconi anemia due to disruption of the monoubiquitin ligase core complex

FAAP100基因失活会导致单泛素连接酶核心复合物破坏,从而引起范可尼贫血。

Julia Kuehl,Yutong Xue,Fenghua Yuan,Ramanagouda Ramanagoudr-Bhojappa,Simone Pickel,Reinhard Kalb,Settara C Chandrasekharappa,Weidong Wang,Yanbin Zhang,Detlev Schindler

G-quadruplexes as a source of vulnerability in BRCA2-deficient granule cell progenitors and medulloblastoma.

G-四链体是BRCA2缺陷型颗粒细胞祖细胞和髓母细胞瘤的脆弱性来源

Keahi Danielle L, Sanders Mathijs A, Paul Matthew R, Webster Andrew L H, Fang Yin, Wiley Tom F, Shalaby Samer, Carroll Thomas S, Chandrasekharappa Settara C, Sandoval-Garcia Carolina, MacMillan Margaret L, Wagner John E, Hatten Mary E, Smogorzewska Agata

Loss of SLX4IP leads to common fragile site instability and compromises DNA interstrand crosslink repair in vivo.

SLX4IP 的缺失会导致常见的脆性位点不稳定,并损害体内 DNA 链间交联修复

Ingham Andreas, Ramaswami Mukundhan, Ramangoudr-Bhojappa Ramanagouda, Pladevall-Morera David, De Santis Flavia, Terriente Javier, Muñoz Ivan M, Rouse John, Chandrasekharappa Settara C, Lopez-Contreras Andres J

Persistent immune dysregulation and metabolic alterations following SARS-CoV-2 infection

SARS-CoV-2感染后持续存在的免疫失调和代谢改变

Lage, Silvia Lucena; Bricker-Holt, Katherine; Rocco, Joseph M; Rupert, Adam; Donovan, Frank X; Abramzon, Yevgeniya A; Chandrasekharappa, Settara C; McNinch, Colton; Cook, Logan; Amaral, Eduardo Pinheiro; Rosenfeld, Gabriel; Dalhuisen, Thomas; Eun, Avery; Hoh, Rebecca; Fehrman, Emily; Martin, Jeffrey N; Deeks, Steven G; Henrich, Timothy J; Peluso, Michael J; Sereti, Irini

Polygenic Risk Scores and HLA Class II Variants are Biomarkers of Corticosteroid Response in Childhood Nephrotic Syndrome

多基因风险评分和HLA II类变异是儿童肾病综合征皮质类固醇反应的生物标志物

Tu, Tiffany; Ochoa, Alejandro; Sood, Amika; Drabik, Ashley; Chryst-Stangl, Megan; Lane, Brandon; Wu, Guanghong; Donovan, Frank; Harper, Ursula; Chandrasekharappa, Settara; Esezobor, Christopher; Solarin, Adaobi; Hooper, David; Sethna, Christine; Amaral, Sandra; Kallash, Mahmoud; Rheault, Michelle; Verghese, Priya; Dharnidharka, Vikas; Salmon, Eloise; Weng, Patricia; Srivastava, Tarak; Seifert, Michael E; Pruette, Cozumel; Selewski, David; Gibson, Keisha; Hunley, Tracy; Abeyagunawardena, Asiri; Thalgahagoda, Shenal; Bagga, Arvind; Sinha, Aditi; Webb, Nicholas; Greenbaum, Larry; Gharavi, Ali; Kiryluk, Krzysztof; Kretzler, Mathias; Guay-Woodford, Lisa; Sanna-Cherchi, Simone; Bierzynska, Agnieszka; Koziell, Ania; Welsh, Gavin; Saleem, Moin; Rotimi, Charles; Chambers, Eileen; Chan, Cliburn; Jackson, Annette; Adeyemo, Adebowale; Gbadegesin, Rasheed

Tracking Cytopenias in FANCA-deficient Fanconi Anemia

追踪FANCA缺陷型范可尼贫血症中的细胞减少症

Maxwell, Rochelle R; Berger, Tamar; Jiang, Caroline S; Rosenberg, Allana; Gonzalez, Ashlyn-Maree; Odame, Jodie; Lin, Yu-Chien; Lach, Francis P; Kennedy, Jennifer; Tryon, Rebecca; Donovan, Frank X; Kimble, Danielle C; Soma, Shivatheja; Cancio, Maria I; Wagner, John E; MacMillan, Margaret L; Davies, Stella M; Chandrasekharappa, Settara C; Mehta, Parinda A; Boulad, Farid; Auerbach, Arleen D; Smogorzewska, Agata

FANCA c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia

FANCA c.3624C>T (p.Ser1208=) 是一种功能减弱的剪接变异体,与范可尼贫血症的延迟发病相关。

Ramanagouda Ramanagoudr-Bhojappa ,Rebecca Tryon ,Francis P Lach ,Frank X Donovan ,Rochelle Maxwell ,Allana Rosenberg ,Margaret L MacMillan ,John E Wagner ,Arleen D Auerbach ,Agata Smogorzewska ,Settara C Chandrasekharappa