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Select item 104066151.

Longitudinal assessment of vascular calcification in generalized arterial calcification of infancy

Karen I. Ramirez-Suarez, Sara A. Cohen, Christian A. Barrera, Michael A. Levine, David J. Goldberg, Hansel J. Otero

Pediatr Radiol. Author manuscript; available in PMC 2023 Aug 8.

Published in final edited form as: Pediatr Radiol. 2022 Nov; 52(12): 2329–2341. Published online 2022 Apr 19. doi: 10.1007/s00247-022-05364-0

PMCID:: PMC10406615

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Select item 97095932.

Catalysis-independent ENPP1 protein signaling regulates mammalian bone mass

Kristin Zimmerman, Xiaochen Li, Simon von Kroge, Paul Stabach, Ethan R. Lester, Emily Y. Chu, Shivani Srivastava, Martha J. Somerman, Steven M. Tommasini, Björn Busse, Thorsten Schinke, Thomas O. Carpenter, Ralf Oheim, Demetrios T. Braddock

J Bone Miner Res. Author manuscript; available in PMC 2023 Sep 1.

Published in final edited form as: J Bone Miner Res. 2022 Sep; 37(9): 1733–1749. Published online 2022 Jul 29. doi: 10.1002/jbmr.4640

PMCID:: PMC9709593

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Select item 95066833.

Generalized Arterial Calcification of Infancy: New Insights, Controversies, and Approach to Management

Alison M Boyce, Rachel I Gafni, Carlos R Ferreira

Curr Osteoporos Rep. Author manuscript; available in PMC 2022 Sep 23.

Published in final edited form as: Curr Osteoporos Rep. 2020 Jun; 18(3): 232–241. doi: 10.1007/s11914-020-00577-4

PMCID:: PMC9506683

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Select item 93571174.

Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma

Douglas Ralph, Michael A. Levine, Gabriele Richard, Michelle Morrow, Elizabeth Flynn, Jouni Uitto, Qiaoli Li

Hum Mutat. Author manuscript; available in PMC 2023 Sep 1.

Published in final edited form as: Hum Mutat. 2022 Sep; 43(9): 1183–1200. Published online 2022 May 18. doi: 10.1002/humu.24391

PMCID:: PMC9357117

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Select item 91776655.

Identification of ENPP1 haploinsufficiency in patients with diffuse idiopathic skeletal hyperostosis and early-onset osteoporosis

Hajime Kato, Anenya J. Ansh, Ethan R. Lester, Yuka Kinoshita, Naoko Hidaka, Yoshitomo Hoshino, Minae Koga, Yuki Taniguchi, Taisuke Uchida, Hideki Yamaguchi, Yo Niida, Masamitsu Nakazato, Masaomi Nangaku, Noriko Makita, Toshinari Takamura, Taku Saito, Demetrios T. Braddock, Nobuaki Ito

J Bone Miner Res. Author manuscript; available in PMC 2023 Jun 1.

Published in final edited form as: J Bone Miner Res. 2022 Jun; 37(6): 1125–1135. Published online 2022 Apr 11. doi: 10.1002/jbmr.4550

PMCID:: PMC9177665

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Select item 89772336.

Oral supplementation of inorganic pyrophosphate in pseudoxanthoma elasticum

Eszter Kozák, Krisztina Fülöp, Natália Tőkési, Nidhi Rao, Qiaoli Li, Sharon F. Terry, Jouni Uitto, Xiaoming Zhang, Cyrus Becker, András Váradi, Viola Pomozi

Exp Dermatol. Author manuscript; available in PMC 2022 Apr 4.

Published in final edited form as: Exp Dermatol. 2022 Apr; 31(4): 548–555. Published online 2021 Nov 17. doi: 10.1111/exd.14498

PMCID:: PMC8977233

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Select item 86844827.

A Reference Range for Plasma Levels of Inorganic Pyrophosphate in Children Using the ATP Sulfurylase Method

Eva Bernhard, Yvonne Nitschke, Gus Khursigara, Yves Sabbagh, Yongbao Wang, Frank Rutsch

J Clin Endocrinol Metab. 2022 Jan; 107(1): 109–118. Published online 2021 Sep 9. doi: 10.1210/clinem/dgab615

PMCID:: PMC8684482

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Select item 85955328.

Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies

Carlos R Ferreira, Kristina Kintzinger, Mary E Hackbarth, Ulrike Botschen, Yvonne Nitschke, M Zulf Mughal, Genevieve Baujat, Dirk Schnabel, Eric Yuen, William A Gahl, Rachel I Gafni, Qing Liu, Pedro Huertas, Gus Khursigara, Frank Rutsch

J Bone Miner Res. 2021 Nov; 36(11): 2193–2202. Published online 2021 Aug 16. doi: 10.1002/jbmr.4418

PMCID:: PMC8595532

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Select item 81236799.

ABCC6, Pyrophosphate and Ectopic Calcification: Therapeutic Solutions

Briana K. Shimada, Viola Pomozi, Janna Zoll, Sheree Kuo, Ludovic Martin, Olivier Le Saux

Int J Mol Sci. 2021 May; 22(9): 4555. Published online 2021 Apr 27. doi: 10.3390/ijms22094555

PMCID:: PMC8123679

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Select item 787784710.

Improving the Pharmacodynamics and In Vivo Activity of ENPP1‐Fc Through Protein and Glycosylation Engineering

Paul R. Stabach, Kristin Zimmerman, Aaron Adame, Dillon Kavanagh, Christopher T. Saeui, Christian Agatemor, Shawn Gray, Wenxiang Cao, Enrique M. De La Cruz, Kevin J. Yarema, Demetrios T. Braddock

Clin Transl Sci. 2021 Jan; 14(1): 362–372. Published online 2020 Oct 20. doi: 10.1111/cts.12887

PMCID:: PMC7877847

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Select item 786760811.

Prospective phenotyping of long-term survivors of Generalized Arterial Calcification of Infancy (GACI)

Carlos R. Ferreira, Mary E. Hackbarth, Shira G. Ziegler, Kristen S. Pan, Mary S. Roberts, Douglas R. Rosing, Margaret S. Whelpley, Joy C. Bryant, Ellen F. Macnamara, Sisi Wang, Kerstin Müller, Iris R. Hartley, Emily Y. Chew, Timothy E. Corden, Christina M. Jacobsen, Ingrid A. Holm, Frank Rutsch, Esra Dikoglu, Marcus Y. Chen, M. Zulf Mughal, Michael A. Levine, Rachel I. Gafni, William A. Gahl

Genet Med. Author manuscript; available in PMC 2021 Apr 2.

Published in final edited form as: Genet Med. 2021 Feb; 23(2): 396–407. Published online 2020 Oct 2. doi: 10.1038/s41436-020-00983-0

PMCID:: PMC7867608

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Select item 777156912.

Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations

Anupam Kotwal, Alejandro Ferrer, Rajiv Kumar, Ravinder J Singh, Vishakantha Murthy, Laura Schultz-Rogers, Michael Zimmermann, Brendan Lanpher, Kristin Zimmerman, Paul R Stabach, Eric Klee, Demetrios T Braddock, Robert A Wermers

J Bone Miner Res. Author manuscript; available in PMC 2020 Dec 29.

Published in final edited form as: J Bone Miner Res. 2020 Apr; 35(4): 662–670. Published online 2020 Jan 16. doi: 10.1002/jbmr.3938

PMCID:: PMC7771569

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Select item 774433013.

Genetic pathways disrupted by ENPP1 deficiency provide insight into mechanisms of osteoporosis, osteomalacia, and paradoxical mineralization

Nathan D. Maulding, Dillon Kavanagh, Kristin Zimmerman, Gianfilippo Coppola, Thomas O. Carpenter, Nathaniel K. Jue, Demetrios T. Braddock

Bone. Author manuscript; available in PMC 2022 Jan 1.

Published in final edited form as: Bone. 2021 Jan; 142: 115656. Published online 2020 Sep 24. doi: 10.1016/j.bone.2020.115656

PMCID:: PMC7744330

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Select item 727111914.

Hypophosphatemic Osteosclerosis, Hyperostosis, And Enthesopathy Associated With Novel Homozygous Mutations Of DMP1 Encoding Dentin Matrix Protein 1 and SPP1 Encoding Osteopontin: The First Digenic SIBLING Protein Osteopathy?

Michael P. Whyte, S. Deepak Amalnath, William H. McAlister, Marc D. McKee, Deborah J. Veis, Margaret Huskey, Shenghui Duan, Vinieth N. Bijanki, Suhas Alur, Steven Mumm

Bone. Author manuscript; available in PMC 2021 Mar 1.

Published in final edited form as: Bone. 2020 Mar; 132: 115190. Published online 2019 Dec 13. doi: 10.1016/j.bone.2019.115190

PMCID:: PMC7271119

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Select item 718479815.

Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency

Ralf Oheim, Kristin Zimmerman, Nathan D Maulding, Julian Stürznickel, Simon von Kroge, Dillon Kavanagh, Paul R Stabach, Uwe Kornak, Steven M Tommasini, Mark C Horowitz, Michael Amling, David Thompson, Thorsten Schinke, Björn Busse, Thomas O. Carpenter, Demetrios T Braddock

J Bone Miner Res. 2020 Mar; 35(3): 528–539. Published online 2019 Dec 5. doi: 10.1002/jbmr.3911

PMCID:: PMC7184798

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Select item 674331716.

ABCC6–Mediated ATP Secretion by the Liver Is the Main Source of the Mineralization Inhibitor Inorganic Pyrophosphate in the Systemic Circulation—Brief Report

Robert S. Jansen, Suzanne Duijst, Sunny Mahakena, Daniela Sommer, Flóra Szeri, András Váradi, Astrid Plomp, Arthur A. Bergen, Ronald PJ. Oude Elferink, Piet Borst, Wetering Koen van de

Arterioscler Thromb Vasc Biol. Author manuscript; available in PMC 2019 Sep 13.

Published in final edited form as: Arterioscler Thromb Vasc Biol. 2014 Sep; 34(9): 1985–1989. Published online 2014 Jun 26. doi: 10.1161/ATVBAHA.114.304017

PMCID:: PMC6743317

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Select item 641271417.

Pseudoxanthoma Elasticum as a Paradigm of Heritable Ectopic Mineralization Disorders: Pathomechanisms and Treatment Development

Qiaoli Li, Koen van de Wetering, Jouni Uitto

Am J Pathol. 2019 Feb; 189(2): 216–225. doi: 10.1016/j.ajpath.2018.09.014

PMCID:: PMC6412714

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Select item 586387318.

Hypercementosis Associated with ENPP1 Mutations and GACI

V. Thumbigere-Math, A. Alqadi, N.I. Chalmers, M.B. Chavez, E.Y. Chu, M.T. Collins, C.R. Ferreira, K. FitzGerald, R.I. Gafni, W.A. Gahl, K.S. Hsu, M.S. Ramnitz, M.J. Somerman, S.G. Ziegler, B.L. Foster

J Dent Res. 2018 Apr; 97(4): 432–441. Published online 2017 Dec 15. doi: 10.1177/0022034517744773

PMCID:: PMC5863873

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Select item 532661419.

Functional rescue of ABCC6 deficiency by 4-phenylbutyrate therapy reduces dystrophic calcification in Abcc6^−/− mice

Viola Pomozi, Christopher Brampton, Flóra Szeri, Dóra Dedinszki, Eszter Kozák, Koen van de Wetering, Hi’ilani Hopkins, Ludovic Martin, András Váradi, Olivier Le Saux

J Invest Dermatol. Author manuscript; available in PMC 2018 Mar 1.

Published in final edited form as: J Invest Dermatol. 2017 Mar; 137(3): 595–602. Published online 2016 Nov 5. doi: 10.1016/j.jid.2016.10.035

PMCID:: PMC5326614

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Select item 461500620.

The effects of bisphosphonates on ectopic soft tissue mineralization caused by mutations in the ABCC6 gene

Qiaoli Li, John P Sundberg, Michael A Levine, Sharon F Terry, Jouni Uitto

Cell Cycle. 2015 Apr 1; 14(7): 1082–1089. Published online 2015 Jan 21. doi: 10.1080/15384101.2015.1007809

PMCID:: PMC4615006

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