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

Polygenic modifiers impact penetrance and expressivity in telomere biology disorders

多基因修饰因子影响端粒生物学疾病的穿透率和表达度

Poeschla, Michael; Arora, Uma P; Walne, Amanda; McReynolds, Lisa J; Niewisch, Marena R; Giri, Neelam; Zeigler, Logan P; Gusev, Alexander; Machiela, Mitchell J; Tummala, Hemanth; Savage, Sharon A; Sankaran, Vijay G

ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders

ATM依赖性DNA损伤反应会限制细胞生长,并在端粒生物学疾病中驱动克隆性造血。

Christopher M Sande ,Stone Chen ,Dana V Mitchell ,Ping Lin ,Diana M Abraham ,Jessie Minxuan Cheng ,Talia Gebhard ,Rujul J Deolikar ,Colby Freeman ,Mary Zhou ,Sushant Kumar ,Michael Bowman ,Robert L Bowman ,Shannon Zheng ,Bolormaa Munkhbileg ,Qijun Chen ,Natasha L Stanley ,Kathy Guo ,Ajibike Lapite ,Ryan Hausler ,Deanne M Taylor ,James Corines ,Jennifer Jd Morrissette ,David B Lieberman ,Guang Yang ,Olga Shestova ,Saar Gill ,Jiayin Zheng ,Kelcy Smith-Simmer ,Lauren G Banaszak ,Kyle N Shoger ,Erica F Reinig ,Madilynn Peterson ,Peter Nicholas ,Amanda J Walne ,Inderjeet Dokal ,Justin P Rosenheck ,Karolyn A Oetjen ,Daniel C Link ,Andrew E Gelman ,Christopher R Reilly ,Ritika Dutta ,R Coleman Lindsley ,Karyn J Brundige ,Suneet Agarwal ,Alison A Bertuch ,Jane E Churpek ,Laneshia K Tague ,F Brad Johnson ,Timothy S Olson ,Daria V Babushok

Defining the value proposition in diagnostic technology: challenges and opportunities for its understanding and development - a review with a multiperspective reflective analysis

定义诊断技术的价值主张:理解和发展过程中面临的挑战与机遇——基于多视角反思分析的综述

Soukup, Tayana; Zamora-Talaya, Bernarda; Bahadori, Shayan; Luxardo, Rosario; Kierkegaard, Patrick; Butt, Omar; Kettley-Linsell, Hannah; Savva, Katerina-Vanessa; Micocci, Massimo; Zhou, Shanshan; Newman, Simon; Walne, Simon; Peters, Christopher J; Gordon, Adam; Ni, Melody; Buckle, Peter; Hanna, George B

High-throughput screening identifies a previously undescribed checkpoint controlling mitotic progression in response to DNA damage

高通量筛选鉴定出一个此前未被描述的检查点,该检查点控制着DNA损伤反应中的有丝分裂进程。

Li, Nan; Gatenby, Rachel; Walne, Thomas; Daye, Caroline; Watson, Steven; Lata, Priya; Brown, Stephen; Thompson, Ruth

The evolving genetic landscape of telomere biology disorder dyskeratosis congenita

端粒生物学疾病先天性角化不良症的遗传图谱演变

Hemanth Tummala, Amanda J Walne, Mohsin Badat, Manthan Patel, Abigail M Walne, Jenna Alnajar, Chi Ching Chow, Ibtehal Albursan, Jennifer M Frost, David Ballard, Sally Killick, Peter Szitányi, Anne M Kelly, Manoj Raghavan, Corrina Powell, Reinier Raymakers, Tony Todd, Elpis Mantadakis, Sophia Polychr

Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita

生殖系胸苷酸合成酶缺乏会影响核苷酸代谢并导致先天性角化不良

Tummala, Hemanth; Walne, Amanda; Buccafusca, Roberto; Alnajar, Jenna; Szabo, Anita; Robinson, Peter; McConkie-Rosell, Allyn; Wilson, Meredith; Crowley, Suzanne; Kinsler, Veronica; Ewins, Anna-Maria; Madapura, Pradeepa M; Patel, Manthan; Pontikos, Nikolas; Codd, Veryan; Vulliamy, Tom; Dokal, Inderjeet

Examining the Corn Seedling Emergence-Temperature Relationship for Recent Hybrids: Insights from Experimental Studies

近期杂交玉米幼苗出苗与温度关系的研究:来自实验研究的启示

Beegum, Sahila; Walne, Charles Hunt; Reddy, Krishna N; Reddy, Vangimalla; Reddy, Kambham Raja

Acquired somatic variants in inherited myeloid malignancies

遗传性髓系恶性肿瘤的获得性体细胞变异

Armes, Hannah; Rio-Machin, Ana; Krizsán, Szilvia; Bödör, Csaba; Kaya, Fadimana; Bewicke-Copley, Findlay; Alnajar, Jenna; Walne, Amanda; Péterffy, Borbála; Tummala, Hemanth; Rouault-Pierre, Kevin; Dokal, Inderjeet; Vulliamy, Tom; Fitzgibbon, Jude

Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita

种系胸苷酸合酶缺乏影响核苷酸代谢并导致先天性角化不良

Hemanth Tummala, Amanda Walne, Roberto Buccafusca, Jenna Alnajar, Anita Szabo, Peter Robinson, Allyn McConkie-Rosell, Meredith Wilson, Suzanne Crowley, Veronica Kinsler, Anna-Maria Ewins, Pradeepa M Madapura, Manthan Patel, Nikolas Pontikos, Veryan Codd, Tom Vulliamy, Inderjeet Dokal

Climate Stressors on Growth, Yield, and Functional Biochemistry of two Brassica Species, Kale and Mustard

气候胁迫对两种芸薹属植物(羽衣甘蓝和芥菜)生长、产量和功能性生物化学的影响

Sehgal, Akanksha; Reddy, Kambham Raja; Walne, Charles Hunt; Barickman, T Casey; Brazel, Skyler; Chastain, Daryl; Gao, Wei