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

T cell immune deficiency rather than chromosome instability predisposes patients with short telomere syndromes to squamous cancers

细胞免疫缺陷而非染色体不稳定导致短端粒综合征患者易患鳞状细胞癌

Kristen E Schratz, Diane A Flasch, Christine C Atik, Zoe L Cosner, Amanda L Blackford, Wentao Yang, Dustin L Gable, Paz J Vellanki, Zhimin Xiang, Valeriya Gaysinskaya, Robert H Vonderheide, Lisa M Rooper, Jinghui Zhang, Mary Armanios

ZCCHC8, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation

核外泌体靶向成分 ZCCHC8 在家族性肺纤维化中发生突变,并且是端粒酶 RNA 成熟所必需的

Dustin L Gable, Valeriya Gaysinskaya, Christine C Atik, C Conover Talbot Jr, Byunghak Kang, Susan E Stanley, Elizabeth W Pugh, Nuria Amat-Codina, Kara M Schenk, Murat O Arcasoy, Cory Brayton, Liliana Florea, Mary Armanios

Short telomere syndromes cause a primary T cell immunodeficiency

短端粒综合征导致原发性 T 细胞免疫缺陷

Christa L Wagner, Vidya Sagar Hanumanthu, C Conover Talbot Jr, Roshini S Abraham, David Hamm, Dustin L Gable, Christopher G Kanakry, Carolyn D Applegate, Janet Siliciano, J Brooks Jackson, Stephen Desiderio, Jonathan K Alder, Leo Luznik, Mary Armanios

Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema

RNA 生物合成因子 NAF1 的功能丧失突变导致肺纤维化-肺气肿

Susan E Stanley, Dustin L Gable, Christa L Wagner, Thomas M Carlile, Vidya Sagar Hanumanthu, Joshua D Podlevsky, Sara E Khalil, Amy E DeZern, Maria F Rojas-Duran, Carolyn D Applegate, Jonathan K Alder, Erin M Parry, Wendy V Gilbert, Mary Armanios

A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex

由TELO2基因变异引起的综合征型智力障碍,TELO2基因编码TTT复合物的组成部分。

Jing You ,Nara L Sobreira ,Dustin L Gable ,Julie Jurgens ,Dorothy K Grange ,Newell Belnap ,Ashley Siniard ,Szabolcs Szelinger ,Isabelle Schrauwen ,Ryan F Richholt ,Stephanie E Vallee ,Mary Beth P Dinulos ,David Valle ,Mary Armanios ,Julie Hoover-Fong

Differential expression of miR-1, a putative tumor suppressing microRNA, in cancer resistant and cancer susceptible mice

miR-1(一种假定的抑癌 microRNA)在抗癌小鼠和易患癌症小鼠中的差异表达

Jessica L Fleming #, Dustin L Gable #, Somayeh Samadzadeh-Tarighat, Luke Cheng, Lianbo Yu, Jessica L Gillespie, Amanda Ewart Toland