Barnes Aileen M相关文献与解析，生知库 | 链接生命科学的每一步

日期影响因子

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

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

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

发表日期：2025

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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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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

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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Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization

非致命性VIII型成骨不全症伴有骨基质矿化增强

期刊:Journal of Clinical Endocrinology & Metabolism

影响因子:5.1

doi:10.1210/jc.2016-1334

Fratzl-Zelman, Nadja; Barnes, Aileen M; Weis, MaryAnn; Carter, Erin; Hefferan, Theresa E; Perino, Giorgio; Chang, Weizhong; Smith, Peter A; Roschger, Paul; Klaushofer, Klaus; Glorieux, Francis H; Eyre, David R; Raggio, Cathleen; Rauch, Frank; Marini, Joan C

发表日期：2016

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Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression

V 型成骨不全症原代成骨细胞尽管 COL1A1 表达降低，但仍表现出矿化作用增强。

期刊:Journal of Clinical Endocrinology & Metabolism

影响因子:5.1

doi:10.1210/jc.2014-3082

Reich, Adi; Bae, Alison S; Barnes, Aileen M; Cabral, Wayne A; Hinek, Aleksander; Stimec, Jennifer; Hill, Suvimol C; Chitayat, David; Marini, Joan C

细胞生物学

发表日期：2015

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A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta

西非人中 1.5% 和非洲裔美国人中 0.4% 携带的 LEPRE1 基因创始突变会导致致命的隐性成骨不全症

期刊:Genetics in Medicine

影响因子:6.2

doi:10.1038/gim.2011.44

Cabral, Wayne A; Barnes, Aileen M; Adeyemo, Adebowale; Cushing, Kelly; Chitayat, David; Porter, Forbes D; Panny, Susan R; Gulamali-Majid, Fizza; Tishkoff, Sarah A; Rebbeck, Timothy R; Gueye, Serigne M; Bailey-Wilson, Joan E; Brody, Lawrence C; Rotimi, Charles N; Marini, Joan C

发表日期：2012

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New perspectives on osteogenesis imperfecta

成骨不全症的新视角

期刊:Nature Reviews Endocrinology

影响因子:40

doi:10.1038/nrendo.2011.81

Forlino, Antonella; Cabral, Wayne A; Barnes, Aileen M; Marini, Joan C

发表日期：2011

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COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta

COL1 C-前肽裂解位点突变导致高骨量成骨不全

期刊:Human Mutation

影响因子:3.7

doi:10.1002/humu.21475

Lindahl, Katarina; Barnes, Aileen M; Fratzl-Zelman, Nadja; Whyte, Michael P; Hefferan, Theresa E; Makareeva, Elena; Brusel, Marina; Yaszemski, Michael J; Rubin, Carl-Johan; Kindmark, Andreas; Roschger, Paul; Klaushofer, Klaus; McAlister, William H; Mumm, Steven; Leikin, Sergey; Kessler, Efrat; Boskey, Adele L; Ljunggren, Osten; Marini, Joan C

发表日期：2011

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Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

LEPRE1 和 CRTAP 基因的无义突变会导致严重的隐性成骨不全症

期刊:Cell and Tissue Research

影响因子:2.9

doi:10.1007/s00441-009-0872-0

Marini, Joan C; Cabral, Wayne A; Barnes, Aileen M

发表日期：2010

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