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

TYRA-300, an FGFR3-selective inhibitor, promotes bone growth in two FGFR3-driven models of chondrodysplasia

TYRA-300 是一种 FGFR3 选择性抑制剂,可在两种 FGFR3 驱动的软骨发育不良模型中促进骨骼生长。

Starrett, Jacqueline H; Lemoine, Clara; Guillo, Matthias; Fayad, Chantal; Kaci, Nabil; Neal, Melissa; Pettitt, Emily A; Pache, Melissandre; Ye, Qing; Chouinard, My; Allen, Eric L; Baujat, Geneviève; Hudkins, Robert L; Bober, Michael B; Harris, Todd; Swanson, Ronald V; Legeai-Mallet, Laurence

C-type natriuretic peptide and collagen X marker are aberrant in skeletal dysplasias

C型利钠肽和X型胶原蛋白标志物在骨骼发育不良中异常

Carroll, Ricki S; Olney, Robert C; Duker, Angela L; Coghlan, Ryan F; Schelhaas, Andrea J; Mackenzie, William G; Ditro, Colleen P; Brown, Cassondra J; O'Connell, David A; Horton, William A; Johnstone, Brian; Espiner, Eric A; Prickett, Timothy C R; Bober, Michael B

Mutations in RNU4ATAC Are Associated With Chilblain-Like Lesions and Enhanced Type I Interferon Signalling

RNU4ATAC基因突变与冻疮样病变和I型干扰素信号增强有关

Robertson, Nic; Joshi, Aakash; Ritchie, Francesca; Schim van der Loeff, Ina; Royan, David; Duker, Angela L; Rice, Gillian I; Bober, Michael B; Mansour, Sahar; Campbell, David I; Brennan, Mary; Brown, Lindsay; Jones, Laura; Williams, Eleri; Jackson, Andrew P; Crow, Yanick J

Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS)

MPS IVA 成人患者接受 elosulfase alfa 酶替代疗法的长期疗效:Morquio A 注册研究 (MARS) 的亚组分析

Stepien, Karolina M; Burton, Barbara K; Bober, Michael B; Campeau, Philippe M; Ellaway, Carolyn; Bhattacharya, Kaustuv; Guffon, Nathalie; Hinds, David; Hunt, Abigail; Lail, Alice; Lin, Shuan-Pei; Magner, Martin; Murphy, Elaine; Reisewitz, Pascal; Mitchell, John J

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

Development of a Weight-Band Dosing Approach for Vosoritide in Children with Achondroplasia Using a Population Pharmacokinetic Model

利用群体药代动力学模型开发沃索利肽治疗软骨发育不全患儿的体重分级给药方案

Qi, Yulan; Chan, Ming Liang; Mould, Diane R; Larimore, Kevin; Fisheleva, Elena; Cherukuri, Anu; Day, Jonathan; Savarirayan, Ravi; Irving, Melita; Bacino, Carlos A; Hoover-Fong, Julie; Ozono, Keiichi; Mohnike, Klaus; Wilcox, William R; Bober, Michael B; Henshaw, Joshua

Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice

沃索利肽治疗儿童软骨发育不全:早期经验和临床实践中的实用考量

Semler, Oliver; Cormier-Daire, Valérie; Lausch, Ekkehart; Bober, Michael B; Carroll, Ricki; Sousa, Sérgio B; Deyle, David; Faden, Maha; Hartmann, Gabriele; Huser, Aaron J; Legare, Janet M; Mohnike, Klaus; Rohrer, Tilman R; Rutsch, Frank; Smith, Pamela; Travessa, Andre M; Verardo, Angela; White, Klane K; Wilcox, William R; Hoover-Fong, Julie

The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers

IMPACT调查:一项混合方法研究,旨在了解成骨不全症儿童、青少年和成人及其照护者的经历

Westerheim, Ingunn; Hart, Tracy; van Welzenis, Taco; Wekre, Lena Lande; Semler, Oliver; Raggio, Cathleen; Bober, Michael B; Rapoport, Maria; Prince, Samantha; Rauch, Frank

Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trial

每周一次TransCon CNP(navepegritide)治疗软骨发育不全患儿(ACcomplisH):一项II期、多中心、随机、双盲、安慰剂对照、剂量递增试验

Savarirayan, Ravi; Hoernschemeyer, Daniel G; Ljungberg, Merete; Zarate, Yuri A; Bacino, Carlos A; Bober, Michael B; Legare, Janet M; Högler, Wolfgang; Quattrin, Teresa; Abuzzahab, M Jennifer; Hofman, Paul L; White, Klane K; Ma, Nina S; Schnabel, Dirk; Sousa, Sérgio B; Mao, Meng; Smith, Alden; Chakraborty, Mukta; Giwa, Adebola; Winding, Bent; Volck, Birgitte; Shu, Aimee D; McDonnell, Ciara

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