Mutation update: Variants of the <i>ENPP1</i> gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma-Reference-Cited by-同舟云学术

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

Published:2022-05-18 Issue:9 Volume:43 Page:1183-1200
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Ralph Douglas¹²³^ORCID,Levine Michael A.⁴^ORCID,Richard Gabriele⁵,Morrow Michelle M.⁵,Flynn Elizabeth K.⁵,Uitto Jouni¹³^ORCID,Li Qiaoli¹³^ORCID

Affiliation:

1. Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Jefferson Institute of Molecular Medicine Thomas Jefferson University Philadelphia Pennsylvania USA

2. Genetics, Genomics and Cancer Biology Ph.D. Program, Jefferson College of Life Sciences Thomas Jefferson University Philadelphia Pennsylvania USA

3. PXE International Center of Excellence in Research and Clinical Care Thomas Jefferson University Philadelphia Pennsylvania USA

4. Division of Endocrinology and Diabetes Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

5. GeneDx Inc. Gaithersburg Maryland USA

Funder

National Institutes of Health

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24391

Reference77 articles.

1. Pathological mineralization in a zebrafish enpp1 mutant exhibits features of Generalized Arterial Calcification of Infancy (GACI) and Pseudoxanthoma Elasticum (PXE)

2. New Variants in theEnpp1andPtpn6Genes Cause Low BMD, Crystal-Related Arthropathy, and Vascular Calcification

3. FGF23 and its role in X-linked hypophosphatemia-related morbidity

4. Nucleotide Pyrophosphatases/Phosphodiesterases on the Move

5. Structure and function of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family: Tidying up diversity

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2. Significance of Premature Vertebral Mineralization in Zebrafish Models in Mechanistic and Pharmaceutical Research on Hereditary Multisystem Diseases;Biomolecules;2023-11-06

3. ENPP1 homozygous stop-loss variant causing generalized arterial calcifications of infancy: About a severe neonatal clinical case;European Journal of Medical Genetics;2023-08

4. Osteocytes and the pathogenesis of hypophosphatemic rickets;Frontiers in Endocrinology;2022-09-29

5. Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene;Frontiers in Endocrinology;2022-07-29