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Select item 122102211.

Effect of Roflumilast, a Selective PDE4 Inhibitor, on Bone Phenotypes in ADO2 mice

Imranul Alam, Sara L. Hardman, Rita L. Gerard-O’Riley, Dena Acton, Reginald S. Parker, Jung Min Hong, Angela Bruzzaniti, Michael J. Econs

Calcif Tissue Int. Author manuscript; available in PMC 2025 Jul 1.

Published in final edited form as: Calcif Tissue Int. 2024 Apr; 114(4): 419–429. Published online 2024 Feb 1. doi: 10.1007/s00223-023-01180-2

PMCID:: PMC12210221

Article PDF–1.2M

Select item 121698712.

儿童骨硬化症的临床特征和遗传学分析

王敏, 江傲霜, 朱成琳, 汪洁, 王亚萍, 高珊, 李艳, 陈天平, 刘洪军, 汪俭

Zhongguo Dang Dai Er Ke Za Zhi. 2025 May 15; 27(5): 568–573. Chinese. doi: 10.7499/j.issn.1008-8830.2411167

PMCID:: PMC12169871

Article PDF–538K

Select item 120434763.

Pycnodysostosis: a case series of eight Saudi patients with cathepsin K gene mutation and a literature review

Afaf Alsagheir, Raghad Alhuthil, Ahmad T. Alissa, Faisal Joueidi, Ahmed G. Sayed, Waleed Al-Amoudi, Alanoud S. Alabdulhadi, Bassam Bin-Abbas

Front Endocrinol (Lausanne) 2025; 16: 1517840. Published online 2025 Apr 17. doi: 10.3389/fendo.2025.1517840

PMCID:: PMC12043476

Article PDF–7.6M

Select item 119597394.

SUGAR-seq reveals the transcriptome and N-linked glycosylation landscape of mononuclear phagocytes at single-cell resolution in a mouse model of autosomal dominant osteopetrosis type 2

Yu Sha, Lingyu Huang, Lei Zhang, Xianliang Hou, Chune Mo, Cuiping Pan, Gengshuo Chen, Sha Luo, Minglin Ou

BMC Biol. 2025; 23: 91. Published online 2025 Mar 31. doi: 10.1186/s12915-025-02193-z

PMCID:: PMC11959739

Article PDF–10M

Select item 118657455.

Metabolomics study of osteopetrosis caused by CLCN7 mutation reveals novel pathway and potential biomarkers

Xi Chen, Ziyuan Wang, Wenzhen Fu, Zhe Wei, Jiemei Gu, Chun Wang, Zhenlin Zhang, Xiangtian Yu, Weiwei Hu

Front Endocrinol (Lausanne) 2024; 15: 1418932. Published online 2025 Feb 13. doi: 10.3389/fendo.2024.1418932

PMCID:: PMC11865745

Article PDF–1.0M

Select item 118533056.

A novel frameshift variant leads to familial osteopetrosis with variable phenotypes in a Chinese Han consanguineous family

Mengxiao Liu, Hao Zheng, Zhixiang Li, Runfei Pang, Yang Niu, Lei Yang, Zhenxiang Zhang, Jianguo Xia, Xiuhong Pang

BMC Med Genomics. 2025; 18: 36. Published online 2025 Feb 24. doi: 10.1186/s12920-025-02101-y

PMCID:: PMC11853305

Article PDF–6.7M

Select item 118347037.

Patient-Reported Outcomes in Autosomal Dominant Osteopetrosis: Findings From the Osteopetrosis Registry Study

Lynda E Polgreen, Eva Villa-Lopez, Liz Chen, Ziyue Liu, Amy Katz, Corinne Parks-Schenck, Marian Hart, Erik A Imel, Michael J Econs

J Clin Endocrinol Metab. 2025 Mar; 110(3): e607–e614. Published online 2024 Apr 25. doi: 10.1210/clinem/dgae285

PMCID:: PMC11834703

Article

Select item 118165058.

Development and evaluation of siRNA-mediated gene silencing strategies for ADO2 therapy utilizing iPSCs model and DMPC-SPIONs delivery system

Jiajun Xu, Gengshuo Chen, Chune Mo, Yu Sha, Sha Luo, Minglin Ou

Stem Cell Res Ther. 2025; 16: 66. Published online 2025 Feb 11. doi: 10.1186/s13287-025-04151-6

PMCID:: PMC11816505

Article PDF–1.3M

Select item 114872579.

Osteopetrosis-like disorders induced by osteoblast-specific retinoic acid signaling inhibition in mice

Siyuan Sun, Yuanqi Liu, Jiping Sun, Bingxin Zan, Yiwen Cui, Anting Jin, Hongyuan Xu, Xiangru Huang, Yanfei Zhu, Yiling Yang, Xin Gao, Tingwei Lu, Xinyu Wang, Jingyi Liu, Li Mei, Lei Shen, Qinggang Dai, Lingyong Jiang

Bone Res. 2024; 12: 61. Published online 2024 Oct 17. doi: 10.1038/s41413-024-00353-5

PMCID:: PMC11487257

Article PDF–4.7M

Select item 1137646610.

Osteopetrorickets: two contradictory patterns—one unifying diagnosis

Gerald Behr, Marlena Kuhn, Joseph H. Oved, Maria Luisa Sulis

Skeletal Radiol. Author manuscript; available in PMC 2024 Sep 5.

Published in final edited form as: Skeletal Radiol. 2024 Apr; 53(4): 817–820. Published online 2023 Sep 6. doi: 10.1007/s00256-023-04443-z

PMCID:: PMC11376466

Article PDF–1.0M

Select item 1127709911.

The Variation in the Traits Ameliorated by Inhibitors of JAK1/2, TGF-β, P-Selectin, and CXCR1/CXCR2 in the Gata1^low Model Suggests That Myelofibrosis Should Be Treated by These Drugs in Combination

Francesca Gobbo, Fabrizio Martelli, Antonio Di Virgilio, Elena Demaria, Giuseppe Sarli, Anna Rita Migliaccio

Int J Mol Sci. 2024 Jul; 25(14): 7703. Published online 2024 Jul 13. doi: 10.3390/ijms25147703

PMCID:: PMC11277099

Article PDF–6.9M

Select item 1127354712.

Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis

Chung‐Lin Lee, Yeun‐Wen Chang, Hsiang‐Yu Lin, Hung‐Chang Lee, Ting‐Chi Yeh, Li‐Ching Fang, Ni‐Chung Lee, Jeng‐Daw Tsai, Shuan‐Pei Lin

Mol Genet Genomic Med. 2024 Jul; 12(7): e2494. Published online 2024 Jul 26. doi: 10.1002/mgg3.2494

PMCID:: PMC11273547

Article PDF–2.6M

Select item 1126114613.

Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease

Maya M. Polovitskaya, Tanushka Rana, Kurt Ullrich, Simona Murko, Tatjana Bierhals, Guido Vogt, Tobias Stauber, Christian Kubisch, René Santer, Thomas J. Jentsch

J Biol Chem. 2024 Jul; 300(7): 107437. Published online 2024 Jun 3. doi: 10.1016/j.jbc.2024.107437

PMCID:: PMC11261146

Article PDF–5.7M

Select item 1125853014.

Management of Osteomyelitis in Autosomal Dominant Osteopetrosis: A Rare Case Report

Mishal Almutairi, Ahmed Alharbi, Horiyah Almutairi, Mohamed F Shemis, Masaad S Almutairi, Faris Almutairi

Cureus. 2024 Jun; 16(6): e62660. Published online 2024 Jun 19. doi: 10.7759/cureus.62660

PMCID:: PMC11258530

Article PDF–1.1M

Select item 1123914715.

The PDE4 Inhibitors Roflumilast and Rolipram Rescue ADO2 Osteoclast Resorption Dysfunction

Jung Min Hong, Rita L. Gerard-O’Riley, Dena Acton, Imranul Alam, Michael J. Econs, Angela Bruzzaniti

Calcif Tissue Int. Author manuscript; available in PMC 2025 Mar 1.

Published in final edited form as: Calcif Tissue Int. 2024 Apr; 114(4): 430–443. Published online 2024 Mar 14. doi: 10.1007/s00223-024-01191-7

PMCID:: PMC11239147

Article PDF–2.1M

Select item 1122770516.

Rankl genetic deficiency and functional blockade undermine skeletal stem and progenitor cell differentiation

M. L. Schiavone, L. Crisafulli, C. Camisaschi, G. De Simone, F. R. Liberati, E. Palagano, N. Rucci, F. Ficara, Cristina Sobacchi

Stem Cell Res Ther. 2024; 15: 203. Published online 2024 Jul 6. doi: 10.1186/s13287-024-03803-3

PMCID:: PMC11227705

Article PDF–2.8M

Select item 1118050217.

Autosomal Dominant Osteopetrosis (ADO) Caused by a Missense Variant in the TCIRG1 Gene

Wade Jodeh, Amy J Katz, Marian Hart, Stuart J Warden, Paul Niziolek, Imranul Alam, Steven Ing, Lynda E Polgreen, Erik A Imel, Michael J Econs

J Clin Endocrinol Metab. 2024 Jul; 109(7): 1726–1732. Published online 2024 Jan 23. doi: 10.1210/clinem/dgae040

PMCID:: PMC11180502

Article

Select item 1116146718.

Involvement of Siglec-15 in regulating RAP1/RAC signaling in cytoskeletal remodeling in osteoclasts mediated by macrophage colony-stimulating factor

Hideyuki Kobayashi, M. Alaa Terkawi, Masahiro Ota, Tomoka Hasegawa, Tomomaya Yamamoto, Tomohiro Shimizu, Dai Sato, Ryo Fujita, Toshifumi Murakami, Norio Amizuka, Norimasa Iwasaki, Masahiko Takahata

Bone Res. 2024; 12: 35. Published online 2024 Jun 7. doi: 10.1038/s41413-024-00340-w