Identification of <scp> <i>ENPP1</i> </scp> Haploinsufficiency in Patients With Diffuse Idiopathic Skeletal Hyperostosis and Early‐Onset Osteoporosis-Reference-Cited by-同舟云学术

Identification of ENPP1 Haploinsufficiency in Patients With Diffuse Idiopathic Skeletal Hyperostosis and Early‐Onset Osteoporosis

Published:2022-04-11 Issue:6 Volume:37 Page:1125-1135
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J of Bone & Mineral Res

Author:

Kato Hajime¹²^ORCID,Ansh Anenya J³^ORCID,Lester Ethan R³^ORCID,Kinoshita Yuka¹²^ORCID,Hidaka Naoko¹²^ORCID,Hoshino Yoshitomo¹²,Koga Minae¹²,Taniguchi Yuki⁴^ORCID,Uchida Taisuke⁵^ORCID,Yamaguchi Hideki⁵^ORCID,Niida Yo⁶^ORCID,Nakazato Masamitsu⁵^ORCID,Nangaku Masaomi¹^ORCID,Makita Noriko¹²^ORCID,Takamura Toshinari⁷,Saito Taku²⁴^ORCID,Braddock Demetrios T³^ORCID,Ito Nobuaki¹²^ORCID

Affiliation:

1. Division of Nephrology and Endocrinology The University of Tokyo Hospital Tokyo Japan

2. Osteoporosis Center The University of Tokyo Hospital Tokyo Japan

3. Department of Pathology Yale University New Haven CT USA

4. Department of Orthopedic Surgery The University of Tokyo Hospital Tokyo Japan

5. Division of Neurology, Respirology, Endocrinology and Metabolism, Department of Internal Medicine, Faculty of Medicine University of Miyazaki Miyazaki Japan

6. Division of Genomic Medicine, Department of Advanced Medicine Medical Research Institute, Kanazawa Medical University Kanazawa Japan

7. Department of Endocrinology and Metabolism Kanazawa University Graduate School of Medical Sciences Kanazawa Japan

Funder

National Institutes of Health

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jbmr.4550

Reference52 articles.

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

2. Autosomal-Recessive Hypophosphatemic Rickets Is Associated with an Inactivation Mutation in the ENPP1 Gene

3. Physiological and pathophysiological functions of the ecto-nucleotide pyrophosphatase/phosphodiesterase family

4. Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine

5. Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL)

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