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

Beyond readthrough: ataluren restores mitochondrial function and reduces oxidative stress in FANCA-mutated cells via mTOR-DRP1 modulation.

超越读通:ataluren 通过 mTOR-DRP1 调节恢复 FANCA 突变细胞的线粒体功能并降低氧化应激。

Balbi Matilde, Guidi Elisa, Hristodor Anca Manuela, Corsolini Fabio, Cossu Vanessa, Bottega Roberta, Serra Martina, Pestarino Sara, Bartolucci Martina, Cipolli Marco, Regis Stefano, Bezzerri Valentino, Cappelli Enrico, Ravera Silvia

Oncogenic properties of wild-type DNA repair gene FANCA in breast cancer

野生型DNA修复基因FANCA在乳腺癌中的致癌特性

Liang Luo ,Fenghua Yuan ,Anna Palovcak ,Fang Li ,Qingqi Yuan ,Daniel Calkins ,Zoe Manalo ,Yan Li ,Dazhi Wang ,Mike Zhou ,Catherine Zhou ,Matthew Li ,Yuan-De Tan ,Feng Bai ,Yuguang Ban ,Christian Mason ,Evan Roberts ,Daniel Bilbao ,Zhao-Jun Liu ,Karoline Briegel ,Scott M Welford ,Xin-Hai Pei ,Sylvia Daunert ,Wenjun Liu ,Yanbin Zhang

Unveiling a pathogenic FANCA gene variant in a Mexican family with Fanconi anemia through next‑generation sequencing

通过新一代测序技术,在一个患有范可尼贫血症的墨西哥家族中发现了一种致病性FANCA基因变异。

Cuero-Quezada, Idalid; Brukman-Jiménez, Sinhue Alejandro; Corona-Rivera, Alfredo; Corona-Rivera, Jorge Román; Ortiz-Sandoval, María Magdalena; Juárez-Zucco, Leonardo; Flores-Leura, Fernando Alexis; De Jesús Bustos-Rodríguez, Felipe; Bobadilla-Morales, Lucina

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

FLIP(C1orf112)-FIGNL1 complex regulates RAD51 chromatin association to promote viability after replication stress

FLIP(C1orf112)-FIGNL1复合物调控RAD51与染色质的结合,从而促进复制应激后的细胞存活。

Jessica D Tischler # ,Hiroshi Tsuchida # ,Rosevalentine Bosire ,Tommy T Oda ,Ana Park ,Richard O Adeyemi

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

Phenotypic Variability and Cutaneous Features in 2 Siblings with Fanconi Anaemia and FANCA Mutation

患有范可尼贫血症和FANCA基因突变的2名兄弟姐妹的表型变异性和皮肤特征

Almaani, Noor; Al-Lala, Heba; Al-Showbaki, Laith; Aburizeg, Dunia; Azab, Bilal

Clinical and genetic features of Fanconi anemia associated with a variant of FANCA gene: Case report and literature review

与FANCA基因变异相关的范可尼贫血的临床和遗传特征:病例报告和文献综述

Zhong, Lin; Zhang, Wenhua; Zhang, Kaihui; Li, Chan; Mu, Xiao; Chu, Yan; Gai, Zhongtao; Wei, Haiyun

Novel homozygous mutation in the FANCA gene (c.2222G>A) in a Chinese girl of Fanconi anemia

一名患有范可尼贫血症的中国女孩被发现携带FANCA基因的新型纯合突变(c.2222G>A)。

Xianhao, Wen; Hongcheng, Qin; Meiling, Liao; Xianmin, Guan

Erratum: A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation

勘误:自我修复史:新生变异对FANCA c.2778+83C>G剪接突变的补偿效应