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

CRTAP-Null Osteoblasts Have Increased Proliferation, Protein Secretion, and Skeletal Morphogenesis Gene Expression with Downregulation of Cellular Adhesion.

CRTAP 缺失的成骨细胞增殖、蛋白质分泌和骨骼形态发生基因表达增加，同时细胞粘附下调

期刊:Cells
影响因子:5.2
doi:10.3390/cells14070518
Barnes Aileen M, Mitra Apratim, Knue Marianne M, Derkyi Alberta, Dang Do An, Dale Ryan K, Marini Joan C
细胞生物学
Adhesion/ECM
发表日期：2025
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The Role of Osteoblasts in Phenotypic Variability of Dominant Osteogenesis Imperfecta: Evidence from Patients and Murine Models

成骨细胞在显性成骨不全表型变异中的作用：来自患者和鼠模型的证据

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms262311722
Jovanovic, Milena; Mitra, Apratim; Stephan, Chris; Wong, Ka Wai; Talvacchio, Sara; Forlino, Antonella; To, Michael; Kozloff, Kenneth M; Dale, Ryan K; Marini, Joan C
细胞生物学
发表日期：2025
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Moderately severe osteogenesis imperfecta-like osteochondrodysplasia associated with heterozygous variants in both COL1A2 and TRPV4.

与 COL1A2 和 TRPV4 的杂合变异相关的中度严重成骨不全样骨软骨发育不良

期刊:JBMR Plus
影响因子:2.4
doi:10.1093/jbmrpl/ziaf111
Evans Elena F, Chung Woo Young, Barnes Aileen M, Makareeva Elena, Talvacchio Sara, Abtahi Ava Movahed, Jenkins Lisa M, Leikin Sergey, Muallem Shmuel, Marini Joan C
骨科研究
发表日期：2025
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Update on the Genetics of Osteogenesis Imperfecta

成骨不全症遗传学研究进展

期刊:Calcified Tissue International
影响因子:3.2
doi:10.1007/s00223-024-01266-5
Jovanovic, Milena; Marini, Joan C
发表日期：2024
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Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities

成骨不全患儿和青少年的肺功能和结构异常表明存在内在和外在的肺部异常。

期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg-2022-109009
Gochuico, Bernadette R; Hossain, Mahin; Talvacchio, Sara K; Zuo, Mei Xing G; Barton, Mark; Dang Do, An Ngoc; Marini, Joan C
发表日期：2023
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Osteogenesis Imperfecta: Mechanisms and Signaling Pathways Connecting Classical and Rare OI Types

成骨不全症：连接经典型和罕见型成骨不全症的机制和信号通路

期刊:Endocrine Reviews
影响因子:22
doi:10.1210/endrev/bnab017
Jovanovic, Milena; Guterman-Ram, Gali; Marini, Joan C
信号转导
发表日期：2022
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Osteogenesis Imperfecta: The Impact of Genotype and Clinical Phenotype on Adiposity and Resting Energy Expenditure

成骨不全症：基因型和临床表型对脂肪堆积和静息能量消耗的影响

期刊:Journal of Clinical Endocrinology & Metabolism
影响因子:5.1
doi:10.1210/clinem/dgab679
Ballenger, Kaitlin L; Tugarinov, Nicol; Talvacchio, Sara K; Knue, Marianne M; Dang Do, An N; Ahlman, Mark A; Reynolds, James C; Yanovski, Jack A; Marini, Joan C
发表日期：2022
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Dissecting the phenotypic variability of osteogenesis imperfecta

剖析成骨不全症的表型变异

期刊:Disease Models & Mechanisms
影响因子:3.3
doi:10.1242/dmm.049398
Garibaldi, Nadia; Besio, Roberta; Dalgleish, Raymond; Villani, Simona; Barnes, Aileen M; Marini, Joan C; Forlino, Antonella
发表日期：2022
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Alterations of bone material properties in growing Ifitm5/BRIL p.S42 knock-in mice, a new model for atypical type VI osteogenesis imperfecta

Ifitm5/BRIL p.S42 敲入小鼠生长过程中骨骼材料特性的改变，一种新的非典型 VI 型成骨不全症模型

期刊:
影响因子:
doi:10.1016/j.bone.2022.116451
Hedjazi, Ghazal; Guterman-Ram, Gali; Blouin, Stéphane; Schemenz, Victoria; Wagermaier, Wolfgang; Fratzl, Peter; Hartmann, Markus A; Zwerina, Jochen; Fratzl-Zelman, Nadja; Marini, Joan C
发表日期：2022
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Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation

布鲁克综合征2型变异型，无先天性挛缩，涉及一种新的PLOD2复合杂合突变

期刊:
影响因子:
doi:10.1016/j.bone.2019.115047
Mumm, Steven; Gottesman, Gary S; Wenkert, Deborah; Campeau, Philippe M; Nenninger, Angela; Huskey, Margaret; Bijanki, Vinieth N; Veis, Deborah J; Barnes, Aileen M; Marini, Joan C; Stolina, Marina; Zhang, Fan; McAlister, William H; Whyte, Michael P
发表日期：2020
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