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

De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency

一名患有神经发育障碍和免疫缺陷的患者体内存在新生TLK1和MDM1突变

Marina Villamor-Payà ,María Sanchiz-Calvo ,Jordann Smak ,Lynn Pais ,Malika Sud ,Uma Shankavaram ,Alysia Kern Lovgren ,Christina Austin-Tse ,Vijay S Ganesh ,Marina Gay ,Marta Vilaseca ,Gianluca Arauz-Garofalo ,Lluís Palenzuela ,Grace VanNoy ,Anne O'Donnell-Luria ,Travis H Stracker

Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency

鉴定出与神经发育障碍和免疫缺陷相关的 TLK1 新发突变

Marina Villamor-Payà, María Sanchiz-Calvo, Jordann Smak, Lynn Pais, Malika Sud, Uma Shankavaram, Alysia Kern Lovgren, Christina Austin-Tse, Vijay S Ganesh, Marina Gay, Marta Vilaseca, Gianluca Arauz-Garofalo, Lluís Palenzuela, Grace VanNoy, Anne O'Donnell-Luria, Travis H Stracker

Disruption of GMNC-MCIDAS multiciliogenesis program is critical in choroid plexus carcinoma development

GMNC-MCIDAS多纤毛发生程序的紊乱是脉络丛癌发生发展的关键因素。

Qun Li # ,Zhiyuan Han # ,Navleen Singh ,Berta Terré ,Ryann M Fame ,Uzayr Arif ,Thomas D Page ,Tasneem Zahran ,Ahmed Abdeltawab ,Yuan Huang ,Ping Cao ,Jun Wang ,Hao Lu ,Hart G W Lidov ,Kameswaran Surendran ,Lizhao Wu ,James Q Virga ,Ying-Tao Zhao ,Ulrich Schüller ,Robert J Wechsler-Reya ,Maria K Lehtinen ,Sudipto Roy ,Zhongmin Liu ,Travis H Stracker ,Haotian Zhao

Pathway-specific effects of ADSL deficiency on neurodevelopment

ADSL缺陷对神经发育的特定通路影响

Ilaria Dutto # ,Julian Gerhards # ,Antonio Herrera ,Olga Souckova ,Václava Škopová ,Jordann A Smak ,Alexandra Junza ,Oscar Yanes ,Cedric Boeckx ,Martin D Burkhalter ,Marie Zikánová ,Sebastian Pons ,Melanie Philipp ,Jens Lüders ,Travis H Stracker

Centrosome defects cause microcephaly by activating the 53BP1-USP28-TP53 mitotic surveillance pathway

着丝粒缺陷通过激活 53BP1-USP28-TP53 有丝分裂监视通路导致小头畸形

Thao P Phan, Aubrey L Maryniak, Christina A Boatwright, Junsu Lee, Alisa Atkins, Andrea Tijhuis, Diana Cj Spierings, Hisham Bazzi, Floris Foijer, Philip W Jordan, Travis H Stracker, Andrew J Holland

Loss of the abasic site sensor HMCES is synthetic lethal with the activity of the APOBEC3A cytosine deaminase in cancer cells

无碱基位点传感器 HMCES 的缺失与癌细胞中 APOBEC3A 胞嘧啶脱氨酶的活性共同导致死亡

Josep Biayna, Isabel Garcia-Cao, Miguel M Álvarez, Marina Salvadores, Jose Espinosa-Carrasco, Marcel McCullough, Fran Supek, Travis H Stracker

Tousled-Like Kinases Suppress Innate Immune Signaling Triggered by Alternative Lengthening of Telomeres

凌乱状激酶抑制由端粒替代延长引发的先天免疫信号

Sandra Segura-Bayona, Marina Villamor-Payà, Camille Stephan-Otto Attolini, Lars M Koenig, Maria Sanchiz-Calvo, Simon J Boulton, Travis H Stracker

Defects in efferent duct multiciliogenesis underlie male infertility in GEMC1-, MCIDAS- or CCNO-deficient mice

传出管多纤毛生成缺陷是 GEMC1、MCIDAS 或 CCNO 缺陷小鼠男性不育的原因

Berta Terré, Michael Lewis, Gabriel Gil-Gómez, Zhiyuan Han, Hao Lu, Mònica Aguilera, Neus Prats, Sudipto Roy, Haotian Zhao, Travis H Stracker

Targeting p38α Increases DNA Damage, Chromosome Instability, and the Anti-tumoral Response to Taxanes in Breast Cancer Cells

靶向 p38α 可增加乳腺癌细胞中的 DNA 损伤、染色体不稳定性以及对紫杉烷的抗肿瘤反应

Begoña Cánovas, Ana Igea, Alessandro A Sartori, Roger R Gomis, Tanya T Paull, Michitaka Isoda, Héctor Pérez-Montoyo, Violeta Serra, Eva González-Suárez, Travis H Stracker, Angel R Nebreda

Molecular basis of Tousled-Like Kinase 2 activation

Tousled-Like 激酶 2 激活的分子基础

Gulnahar B Mortuza, Dario Hermida, Anna-Kathrine Pedersen, Sandra Segura-Bayona, Blanca López-Méndez, Pilar Redondo, Patrick Rüther, Irina Pozdnyakova, Ana M Garrote, Inés G Muñoz, Marina Villamor-Payà, Cristina Jauset, Jesper V Olsen, Travis H Stracker, Guillermo Montoya