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

MEK inhibitor mirdametinib promotes fracture healing in osteofibrous dysplasia RASopathy

MEK抑制剂mirdametinib可促进骨纤维发育不良RAS病患者的骨折愈合。

Khalid, Aysha B; Denton, Kristin; Paria, Nandina; Oxendine, Ila; Wassell, Meghan; Cornelia, Reuel; Uppuganti, Sasidhar; Nyman, Jeffry S; Jagadeesh, G Jayashree; Ferreira, Carlos R; Conway, Simon J; Hammer, Robert E; Ritter, John; Nguyen, Mylinh; Podeszwa, David A; Klesse, Laura J; Wise, Carol A; Rios, Jonathan J

PPa1 insufficiency drives lysosomal storage disease and inflammatory macrophage expansion in the bone marrow

PPa1 不足会导致溶酶体贮积症和骨髓中炎症性巨噬细胞的扩增。

Grzemska, Magdalena; Chen, Luming; Russell, Jamie; Peddada, Nagesh; Calvache, Samantha; Wang, Jianhui; Khalid, Aysha; Rios, Jonathan J; SoRelle, Jeff; Beutler, Bruce; Nair-Gill, Evan

EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis.

EPHA4 信号失调与异常运动和特发性脊柱侧弯的发生有关

Wang Lianlei, Yang Xinyu, Zhao Sen, Zheng Pengfei, Wen Wen, Xu Kexin, Cheng Xi, Li Qing, Khanshour Anas M, Koike Yoshinao, Liu Junjun, Fan Xin, Otomo Nao, Chen Zefu, Li Yaqi, Li Lulu, Xie Haibo, Zhu Panpan, Li Xiaoxin, Niu Yuchen, Wang Shengru, Liu Sen, Yuan Suomao, Terao Chikashi, Li Ziquan, Chen Shaoke, Zhao Xiuli, Liu Pengfei, Posey Jennifer E, Wu Zhihong, Qiu Guixing, Ikegawa Shiro, Lupski James R, Rios Jonathan J, Wise Carol A, Zhang Jianguo T, Zhao Chengtian, Wu Nan

Molecular Evidence Supporting MEK Inhibitor Therapy in NF1 Pseudarthrosis

分子证据支持MEK抑制剂疗法治疗NF1假关节

Paria, Nandina; Oxendine, Ila; Podeszwa, David; Wassell, Meghan; Cornelia, Reuel; Wise, Carol A; Rios, Jonathan J

The importance of imperfect pre-clinical models in adolescent idiopathic scoliosis

不完善的临床前模型在青少年特发性脊柱侧弯中的重要性

Sepich, Diane S; Gray, Ryan S; Ahituv, Nadav; Gurnett, Christina A; Rios, Jonathan J; Solnica-Krezel, Lila; Wise, Carol A

Molecular Basis of Fracture Pseudarthrosis Associated with Neurofibromatosis Type 1

1型神经纤维瘤病相关骨折假关节的分子基础

Khalid, Aysha; Paria, Nandina; Rios, Jonathan J

Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia

SLC13A1双等位基因功能缺失变异会导致硫酸盐转运受损和骨骼表型异常,包括身材矮小、脊柱侧弯和骨骼发育不良。

Tise, Christina G; Ashton, Katie; de Hayr, Lachlan; Lee, Kun-Di; Patkar, Omkar L; Krzesinski, Emma; Bassetti, Jennifer A; Carter, Erin M; Raggio, Cathleen; Zankl, Andreas; Khanshour, Anas M; Atala, Kristhen N; Rios, Jonathan J; Wise, Carol A; Zhu, Ying; Zhang, Futao; Roscioli, Tony; Buckley, Michael; Harvey, Robert J; Dawson, Paul A

Deep Learning-Based Automated Measurement of Murine Bone Length in Radiographs

基于深度学习的小鼠骨骼长度X光片自动测量

Rong, Ruichen; Denton, Kristin; Jin, Kevin W; Quan, Peiran; Wen, Zhuoyu; Kozlitina, Julia; Lyon, Stephen; Wang, Aileen; Wise, Carol A; Beutler, Bruce; Yang, Donghan M; Li, Qiwei; Rios, Jonathan J; Xiao, Guanghua

RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation

RAB1A单倍体不足的表型与2p14-p15微缺失相似,并且与神经元分化受损有关。

Rios, Jonathan J; Li, Yang; Paria, Nandina; Bohlender, Ryan J; Huff, Chad; Rosenfeld, Jill A; Liu, Pengfei; Bi, Weimin; Haga, Kentaro; Fukuda, Mitsunori; Vashisth, Shayal; Kaur, Kiran; Chahrour, Maria H; Bober, Michael B; Duker, Angela L; Ladha, Farah A; Hanchard, Neil A; Atala, Kristhen; Khanshour, Anas M; Smith, Linsley; Wise, Carol A; Delgado, Mauricio R

MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensus

MEK抑制剂治疗1型神经纤维瘤病:临床证据和共识

de Blank, Peter M K; Gross, Andrea M; Akshintala, Srivandana; Blakeley, Jaishri O; Bollag, Gideon; Cannon, Ashley; Dombi, Eva; Fangusaro, Jason; Gelb, Bruce D; Hargrave, Darren; Kim, AeRang; Klesse, Laura J; Loh, Mignon; Martin, Staci; Moertel, Christopher; Packer, Roger; Payne, Jonathan M; Rauen, Katherine A; Rios, Jonathan J; Robison, Nathan; Schorry, Elizabeth K; Shannon, Kevin; Stevenson, David A; Stieglitz, Elliot; Ullrich, Nicole J; Walsh, Karin S; Weiss, Brian D; Wolters, Pamela L; Yohay, Kaleb; Yohe, Marielle E; Widemann, Brigitte C; Fisher, Michael J