PMC Articles for MedGen (Select 401468) - PMC

Select item 97888121.

Mutation in the CCAL1 locus accounts for bidirectional process of human subchondral bone turnover and cartilage mineralization

Alejandro Rodríguez Ruiz, Marcella van Hoolwerff, Sara Sprangers, Eka Suchiman, Ton Schoenmaker, Petra Dibbets-Schneider, Johan L Bloem, Rob G H H Nelissen, Christian Freund, Christine Mummery, Vincent Everts, Teun J de Vries, Yolande F M Ramos, Ingrid Meulenbelt

Rheumatology (Oxford) 2023 Jan; 62(1): 360–372. Published online 2022 Apr 12. doi: 10.1093/rheumatology/keac232

PMCID:: PMC9788812

Abstract Article PDF–1.5M

Select item 94708922.

Ganoderic acid D prevents oxidative stress‐induced senescence by targeting 14‐3‐3ε to activate CaM/CaMKII/NRF2 signaling pathway in mesenchymal stem cells

Huan Yuan, Yan Xu, Yi Luo, Jia‐Rong Zhang, Xin‐Xin Zhu, Jian‐Hui Xiao

Aging Cell. 2022 Sep; 21(9): e13686. Published online 2022 Aug 5. doi: 10.1111/acel.13686

Correction in:: Aging Cell. 2022 Dec; 21(12): e13732.

PMCID:: PMC9470892

Abstract Article PDF–8.6M

Select item 94073333.

Effects of Burosumab Treatment on Two Siblings with X-Linked Hypophosphatemia. Case Report and Literature Review

Claudia Maria Jurca, Oana Iuhas, Kinga Kozma, Codruta Diana Petchesi, Dana Carmen Zaha, Marius Bembea, Sanziana Jurca, Corina Paul, Alexandru Daniel Jurca

Genes (Basel) 2022 Aug; 13(8): 1392. Published online 2022 Aug 4. doi: 10.3390/genes13081392

PMCID:: PMC9407333

Abstract Article PDF–1.0M

Select item 91331654.

Progressive skeletal defects caused by Kindlin3 deficiency, a model of autosomal recessive osteopetrosis in humans

Tejasvi Dudiki, Daniel W. Nascimento, Lauren S. Childs, Swetha Kareti, Charlie Androjna, Irina Zhevlakova, Tatiana V. Byzova

Bone. Author manuscript; available in PMC 2023 Jul 1.

Published in final edited form as: Bone. 2022 Jul; 160: 116397. Published online 2022 Mar 25. doi: 10.1016/j.bone.2022.116397

PMCID:: PMC9133165

Abstract Article PDF–2.7M

Select item 79022995.

Deficiency of adenosine deaminase 2 (DADA2) in Adults and Children: Experience from India

Aman Sharma, GSRSNK Naidu, Vikas Sharma, Saket Jha, Aaadhar Dhooria, Varun Dhir, Prateek Bhatia, Vishal Sharma, Sagar Bhattad, Chengappa KG, Vikas Gupta, Durga Prasanna Misra, Pallavi Pimpale Chavan, Sourabh Malaviya, Rajkiran Dudam, Banwari Sharma, Sathish Kumar, Rajesh Bhojwani, Pankaj Gupta, Vikas Agarwal, Kusum Sharma, Manphool Singhal, Manish Rathi, Ritambhra Nada, Ranjana W Minz, Ved Chaturvedi, Amita Aggarwal, Rohini Handa, Alice Grossi, Marco Gattorno, Zhengping Huang, Jun Wang, Ramesh Jois, VS Negi, Raju Khubchandani, Sanjay Jain, Juan I Arostegui, Eugene P. Chambers, Michael S. Hershfield, Ivona Aksentijevich, Qing Zhou, Pui Y. Lee

Arthritis Rheumatol. Author manuscript; available in PMC 2022 Feb 1.

Published in final edited form as: Arthritis Rheumatol. 2021 Feb; 73(2): 276–285. Published online 2020 Dec 26. doi: 10.1002/art.41500

PMCID:: PMC7902299

Abstract Article PDF–917K

Select item 75999776.

The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation

Xiaolin Ni, Chenxi Jin, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing, Weibo Xia

BMC Med Genet. 2020; 21: 214. Published online 2020 Oct 31. doi: 10.1186/s12881-020-01154-3

PMCID:: PMC7599977

Abstract Article PDF–1.4M

Select item 72373177.

Nrf2 deficiency in mice attenuates erythropoietic stress-related macrophage hypercellularity

Oluwabukola T Gbotosho, Maria G Kapetanaki, Mark Ross, Samit Ghosh, Frances Weidert, Grant C Bullock, Simon Watkins, Solomon F Ofori-Acquah, Gregory J Kato

Exp Hematol. Author manuscript; available in PMC 2021 Apr 1.

Published in final edited form as: Exp Hematol. 2020 Apr; 84: 19–28.e4. Published online 2020 Mar 6. doi: 10.1016/j.exphem.2020.02.005

PMCID:: PMC7237317

Abstract Article PDF–1.9M

Select item 58640478.

Rats deficient C-type natriuretic peptide suffer from impaired skeletal growth without early death

Toshihito Fujii, Keisho Hirota, Akihiro Yasoda, Akiko Takizawa, Naomi Morozumi, Ryuichi Nakamura, Takafumi Yotsumoto, Eri Kondo, Yui Yamashita, Yoriko Sakane, Yugo Kanai, Yohei Ueda, Ichiro Yamauchi, Shigeki Yamanaka, Kazumasa Nakao, Koichiro Kuwahara, Toshimasa Jindo, Mayumi Furuya, Tomoji Mashimo, Nobuya Inagaki, Tadao Serikawa, Kazuwa Nakao

PLoS One. 2018; 13(3): e0194812. Published online 2018 Mar 22. doi: 10.1371/journal.pone.0194812

PMCID:: PMC5864047

Abstract Article PDF–20M

Select item 51139989.

Bone Marrow Mesenchymal Stem Cells of the Intrauterine Growth Restricted Rat Offspring Exhibit Enhanced Adipogenic Phenotype

Ming Gong, Sahaya Antony, Reiko Sakurai, Jie Liu, Michelina Iacovino, Virender K. Rehan

Int J Obes (Lond) Author manuscript; available in PMC 2017 Mar 7.

Published in final edited form as: Int J Obes (Lond). 2016 Nov; 40(11): 1768–1775. Published online 2016 Sep 7. doi: 10.1038/ijo.2016.157

PMCID:: PMC5113998

Abstract Article PDF–1.7M

Select item 497406810.

Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome

Carine Le Goff, Curtis Rogers, Wilfried Le Goff, Graziella Pinto, Damien Bonnet, Maya Chrabieh, Olivier Alibeu, Patrick Nistchke, Arnold Munnich, Capucine Picard, Valérie Cormier-Daire

Am J Hum Genet. 2016 Aug 4; 99(2): 407–413. Published online 2016 Jul 14. doi: 10.1016/j.ajhg.2016.06.005

PMCID:: PMC4974068

Abstract Article PDF–686K

Select item 468316011.

Deiodinase-mediated thyroid hormone inactivation minimizes thyroid hormone signaling in the early development of fetal skeleton

Luciane P. Capelo, Eduardo H. Beber, Stephen A. Huang, Telma M.T. Zorn, Antonio C. Bianco, Cecília H.A. Gouveia

Bone. Author manuscript; available in PMC 2015 Dec 18.

Published in final edited form as: Bone. 2008 Nov; 43(5): 921–930. Published online 2008 Jul 17. doi: 10.1016/j.bone.2008.06.020

PMCID:: PMC4683160

Abstract Article PDF–4.0M

Select item 428028612.

Loss of Runx2 in Committed Osteoblasts Impairs Postnatal Skeletogenesis

Mitra D. Adhami, Harunur Rashid, Haiyan Chen, John C. Clarke, Yang Yang, Amjad Javed

J Bone Miner Res. Author manuscript; available in PMC 2016 Jan 1.

Published in final edited form as: J Bone Miner Res. 2015 Jan; 30(1): 71–82. doi: 10.1002/jbmr.2321

PMCID:: PMC4280286

Abstract Article PDF–2.5M

Select item 392972913.

Skeletal Response of Male Mice to Anabolic Hormone Therapy in the Absence of the Igfals Gene

Oran D. Kennedy, Hui Sun, YingJie Wu, Hayden-William Courtland, Garry A. Williams, Luis Cardoso, Jelena Basta-Pljakic, Mitchell B. Schaffler, Shoshana Yakar

Endocrinology. 2014 Mar; 155(3): 987–999. Published online 2014 Jan 7. doi: 10.1210/en.2013-1819

PMCID:: PMC3929729

Abstract Article

Select item 387072714.

Nfatc1 orchestrates aging in hair follicle stem cells

Brice E. Keyes, Jeremy P. Segal, Evan Heller, Wen-Hui Lien, Chiung-Ying Chang, Xingyi Guo, Dan S. Oristian, Deyou Zheng, Elaine Fuchs

Proc Natl Acad Sci U S A. 2013 Dec 17; 110(51): E4950–E4959. Published online 2013 Nov 26. doi: 10.1073/pnas.1320301110

PMCID:: PMC3870727

Abstract Article PDF–2.1M

Select item 366391715.

Juvenile Paget’s Disease In An Iranian Kindred With Vitamin D Deficiency And Novel Homozygous TNFRSF11B Mutation

Forough Saki, Zohreh Karamizadeh, Shiva Nasirabadi, Steven Mumm, William H. McAlister, Michael P. Whyte

J Bone Miner Res. Author manuscript; available in PMC 2014 Jun 1.

Published in final edited form as: J Bone Miner Res. 2013 Jun; 28(6): 1501–1508. doi: 10.1002/jbmr.1868

PMCID:: PMC3663917

Abstract Article PDF–3.6M

Select item 253868516.

Resveratrol delays age-related deterioration and mimics transcriptional aspects of dietary restriction without extending lifespan

Kevin J. Pearson, Joseph A. Baur, Kaitlyn N. Lewis, Leonid Peshkin, Nathan L. Price, Nazar Labinskyy, William R. Swindell, Davida Kamara, Robin K. Minor, Evelyn Perez, Hamish A. Jamieson, Yongqing Zhang, Stephen R. Dunn, Kumar Sharma, Nancy Pleshko, Laura A. Woollett, Anna Csiszar, Yuji Ikeno, David Le Couteur, Peter J. Elliott, Kevin G. Becker, Placido Navas, Donald K. Ingram, Norman S. Wolf, Zoltan Ungvari, David A. Sinclair, Rafael de Cabo

Cell Metab. Author manuscript; available in PMC 2009 Aug 1.

Published in final edited form as: Cell Metab. 2008 Aug; 8(2): 157–168. Published online 2008 Jul 3. doi: 10.1016/j.cmet.2008.06.011

PMCID:: PMC2538685

Abstract Article PDF–2.8M

Select item 44288917.

An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen.

J R Shapiro, M L Stover, V E Burn, M B McKinstry, A L Burshell, S D Chipman, D W Rowe

J Clin Invest. 1992 Feb; 89(2): 567–573. doi: 10.1172/JCI115622

PMCID:: PMC442889

Summary Page Browse PDF–1.6M

Select item 33826218.

Targeted ablation of Fgf23 demonstrates an essential physiological role of FGF23 in phosphate and vitamin D metabolism

Takashi Shimada, Makoto Kakitani, Yuji Yamazaki, Hisashi Hasegawa, Yasuhiro Takeuchi, Toshiro Fujita, Seiji Fukumoto, Kazuma Tomizuka, Takeyoshi Yamashita

J Clin Invest. 2004 Feb 15; 113(4): 561–568. doi: 10.1172/JCI19081

PMCID:: PMC338262

Abstract Article PDF–8.0M

Select item 5696419.

Inhibition of prostate carcinogenesis in TRAMP mice by oral infusion of green tea polyphenols

Sanjay Gupta, Kedar Hastak, Nihal Ahmad, Jonathan S. Lewin, Hasan Mukhtar

Proc Natl Acad Sci U S A. 2001 Aug 28; 98(18): 10350–10355. Published online 2001 Aug 14. doi: 10.1073/pnas.171326098

PMCID:: PMC56964

Abstract Article PDF–471K

Select item 1814520.

Impaired endochondral ossification and angiogenesis in mice deficient in membrane-type matrix metalloproteinase I

Zhongjun Zhou, Suneel S. Apte, Raija Soininen, Renhai Cao, George Y. Baaklini, Richard W. Rauser, Jianming Wang, Yihai Cao, Karl Tryggvason

Proc Natl Acad Sci U S A. 2000 Apr 11; 97(8): 4052–4057. Published online 2000 Mar 28. doi: 10.1073/pnas.060037197

PMCID:: PMC18145

Abstract Article PDF–469K

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