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

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

Rare missense variants in FNDC1 are associated with severe adolescent idiopathic scoliosis

FNDC1基因中的罕见错义变异与严重的青少年特发性脊柱侧弯相关。

Charng, Wu-Lin; Haller, Gabe; Whittle, Julia; Nikolov, Momchil; Avery, Addison; Morcuende, Jose; Giampietro, Philip; Raggio, Cathy; Miller, Nancy; Justice, Anne E; Strande, Natasha T; Seeley, Mark; Bodian, Dale L; Wise, Carol A; Sepich, Diane S; Dobbs, Matthew B; Gurnett, Christina A

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

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

Perspectives from the 2024 International Consortium for Spinal Genetics, Development and Disease (ICSGDD)

2024年国际脊髓遗传学、发育和疾病联盟(ICSGDD)的展望

Wu, Nan; Hadley-Miller, Nancy; Gray, Ryan; Schauer, Stevana; Redding, Gregory; Cheng, Tian; Chen, Zefu; Yang, Jianle; Blecher, Ronen; Gerdhem, Paul; Wise, Carol A

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.

SREBF2 中的显性错义变异与复杂的皮肤病、神经系统疾病和骨骼疾病有关

Moulton Matthew J, Atala Kristhen, Zheng Yiming, Dutta Debdeep, Grange Dorothy K, Lin Wen-Wen, Wegner Daniel J, Wambach Jennifer A, Duker Angela L, Bober Michael B, Kratz Lisa, Wise Carol A, Oxendine Ila, Khanshour Anas, Wangler Michael F, Yamamoto Shinya, Cole F Sessions, Rios Jonathan, Bellen Hugo J

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