PMC Articles for MedGen (Select 137975) - PMC

Varda Levy-Litan, Eli Hershkovitz, Luba Avizov, Neta Leventhal, Dani Bercovich, Vered Chalifa-Caspi, Esther Manor, Sophia Buriakovsky, Yair Hadad, James Goding, Ruti Parvari

Am J Hum Genet. 2010 Feb 12; 86(2): 273–278. doi: 10.1016/j.ajhg.2010.01.010

PMCID:: PMC2820183

Article PDF–882K

Select item 28201665.

Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets

Bettina Lorenz-Depiereux, Dirk Schnabel, Dov Tiosano, Gabriele Häusler, Tim M. Strom

Am J Hum Genet. 2010 Feb 12; 86(2): 267–272. doi: 10.1016/j.ajhg.2010.01.006

PMCID:: PMC2820166

Article PDF–285K

Select item 26699556.

Molecular Analysis of DMP1 Mutants Causing Autosomal Recessive Hypophosphatemic Rickets

Emily G. Farrow, Siobhan I. Davis, Leanne M. Ward, Lelia J. Summers, Judith S. Bubbear, Richard Keen, Trevor C.B. Stamp, Laurence R. I. Baker, Lynda F. Bonewald, Kenneth E. White

Bone. Author manuscript; available in PMC 2010 Feb 1.

Published in final edited form as: Bone. 2009 Feb; 44(2): 287–294. Published online 2008 Oct 25. doi: 10.1016/j.bone.2008.10.040

PMCID:: PMC2669955

Article PDF–1.0M

Select item 105435367.

Genetics of Diffuse Idiopathic Skeletal Hyperostosis and Ossification of the Spinal Ligaments

Hajime Kato, Demetrios T. Braddock, Nobuaki Ito

Curr Osteoporos Rep. 2023; 21(5): 552–566. Published online 2023 Aug 2. doi: 10.1007/s11914-023-00814-6

PMCID:: PMC10543536

Article PDF–1.4M

Select item 95569018.

Osteocytes and the pathogenesis of hypophosphatemic rickets

Miwa Yamazaki, Toshimi Michigami

Front Endocrinol (Lausanne) 2022; 13: 1005189. Published online 2022 Sep 29. doi: 10.3389/fendo.2022.1005189

PMCID:: PMC9556901

Article PDF–624K

Select item 95066839.

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

Article PDF–751K

Select item 935711710.

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

Article PDF–717K

Select item 917766511.

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

Article PDF–940K

Select item 873905112.

Response of the ENPP1-Deficient Skeletal Phenotype to Oral Phosphate Supplementation and/or Enzyme Replacement Therapy: Comparative Studies in Humans and Mice

Carlos R Ferreira, Dillon Kavanagh, Ralf Oheim, Kristin Zimmerman, Julian Stürznickel, Xiaofeng Li, Paul Stabach, R Luke Rettig, Logan Calderone, Colin MacKichan, Aaron Wang, Hunter A Hutchinson, Tracy Nelson, Steven M Tommasini, Simon von Kroge, Imke AK Fiedler, Ethan R Lester, Gilbert W Moeckel, Björn Busse, Thorsten Schinke, Thomas O Carpenter, Michael A Levine, Mark C Horowitz, Demetrios T Braddock

J Bone Miner Res. Author manuscript; available in PMC 2022 May 1.

Published in final edited form as: J Bone Miner Res. 2021 May; 36(5): 942–955. Published online 2021 Feb 18. doi: 10.1002/jbmr.4254

PMCID:: PMC8739051

Article PDF–1.8M

Select item 868448213.

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

Article

Select item 859553214.

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

Article PDF–1.1M

Select item 786760815.

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

Article PDF–1.1M

Select item 777156916.

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

Article PDF–1.4M

Select item 774433017.

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

Article PDF–1.1M

Select item 727111918.

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

Article PDF–2.5M

Select item 718479819.

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

Article PDF–2.4M

Select item 704096020.

FGF23 and Associated Disorders of Phosphate Wasting

Anisha Gohil, Erik A. Imel

Pediatr Endocrinol Rev. Author manuscript; available in PMC 2020 Sep 1.

Published in final edited form as: Pediatr Endocrinol Rev. 2019 Sep; 17(1): 17–34. doi: 10.17458/per.vol17.2019.gi.fgf23anddisordersphosphate

PMCID:: PMC7040960

Article PDF–597K

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