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

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome

在两名女性中检测到杂合复发性 MAX p.(Arg60Gln) 变异,证实并扩展了多指-巨头综合征的表型谱。

Showpnil, Iftekhar A; Feinstein-Goren, Neta; Greenbaum, Lior; Barel, Ortal; Koboldt, Daniel C; Brugmann, Samantha A; Weaver, Kathryn Nicole; Slavotinek, Anne; Pode-Shakked, Ben; Stottmann, Rolf W

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X-Linked Neurodevelopmental Disorder

一名患有X连锁神经发育障碍的女性,其新发杂合ZFX移码变异

Showpnil, Iftekhar A; Daley, Allison; Sites, Emily R; Plourde, Shayne M; Hunter, Jesse M; Bartholomew, Dennis W; Lehman, April N; Koboldt, Daniel C; Stottmann, Rolf W

Safety and Feasibility of Limb Salvage Surgery in Patients with Extremity Sarcoma and Major Vessel Abutment: A Longitudinal Study

肢体肉瘤合并大血管压迫患者保肢手术的安全性和可行性:一项纵向研究

Showpnil, Iftekhar A; Miller, Kyle R; Taslim, Cenny; Pishas, Kathleen I; Lessnick, Stephen L; Theisen, Emily R; Karimi, Amin; Hasani, Mohammad; Reddy, Rajiv P; Ehsani, Akbar

Angle dependence as a unifying feature of root graviresponse modules

角度依赖性是根重力响应模块的统一特征

Roychoudhry, Suruchi; Sageman-Furnas, Katelyn; Taylor, Harry J; Showpnil, Iftekhar; Wolverton, Chris; Friml, Jiří; Del Bianco, Marta; Kepinski, Stefan

Expanding the phenotypic spectrum of CSNK2A1-associated Okur-Chung neurodevelopmental syndrome

扩展CSNK2A1相关Okur-Chung神经发育综合征的表型谱

Ramadesikan, Swetha; Showpnil, Iftekhar A; Marhabaie, Mohammad; Daley, Allison; Varga, Elizabeth A; Gurusamy, Umamaheswaran; Pastore, Matthew T; Sites, Emily R; Manickam, Murugu; Bartholomew, Dennis W; Hunter, Jesse M; White, Peter; Wilson, Richard K; Stottmann, Rolf W; Koboldt, Daniel C

Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes

长读长基因组测序能够解析罕见遗传综合征中复杂的基因组重排。

Showpnil, Iftekhar A; E Hernandez Gonzalez, Maria; Ramadesikan, Swetha; Marhabaie, Mohammad; Daley, Allison; Dublin-Ryan, Leeran; Pastore, Matthew T; Gurusamy, Umamaheswaran; Hunter, Jesse M; Stone, Brandon S; Bartholomew, Dennis W; Manickam, Kandamurugu; Miller, Anthony R; Wilson, Richard K; Stottmann, Rolf W; Koboldt, Daniel C

DBD-α4 helix of EWSR1::FLI1 is required for GGAA microsatellite binding that underlies genome regulation in Ewing sarcoma

EWSR1::FLI1 的 DBD-α4 螺旋是 GGAA 微卫星结合所必需的,而 GGAA 微卫星结合是尤文氏肉瘤基因组调控的基础。

Bayanjargal, Ariunaa; Taslim, Cenny; Showpnil, Iftekhar A; Selich-Anderson, Julia; Crow, Jesse C; Lessnick, Stephen L; Theisen, Emily Rose

EWS/FLI mediated reprogramming of 3D chromatin promotes an altered transcriptional state in Ewing sarcoma

EWS/FLI 介导的 3D 染色质重编程促进尤文氏肉瘤的转录状态改变

Iftekhar A Showpnil, Julia Selich-Anderson, Cenny Taslim, Megann A Boone, Jesse C Crow, Emily R Theisen, Stephen L Lessnick

The FLI portion of EWS/FLI contributes a transcriptional regulatory function that is distinct and separable from its DNA-binding function in Ewing sarcoma

EWS/FLI 的 FLI 部分具有转录调控功能,该功能与尤文氏肉瘤中的 DNA 结合功能截然不同且可分离

Megann A Boone, Cenny Taslim, Jesse C Crow, Julia Selich-Anderson, Andrea K Byrum, Iftekhar A Showpnil, Benjamin D Sunkel, Meng Wang, Benjamin Z Stanton, Emily R Theisen, Stephen L Lessnick

Transcriptomic analysis functionally maps the intrinsically disordered domain of EWS/FLI and reveals novel transcriptional dependencies for oncogenesis

转录组分析功能性地映射了 EWS/FLI 的内在无序域,并揭示了肿瘤发生的新型转录依赖性

Emily R Theisen, Kyle R Miller, Iftekhar A Showpnil, Cenny Taslim, Kathleen I Pishas, Stephen L Lessnick