Endocrinol Metab.  2018 Jun;33(2):202-203. 10.3803/EnM.2018.33.2.202.

Parathyroid Hormone-Related Protein in the Hand or Out of Hand?

Affiliations
  • 1Department of Internal Medicine, Seoul National University College of Medicine and Boramae Medical Center, Seoul, Korea. swkimmd@snu.ac.kr

Abstract

No abstract available.


MeSH Terms

Hand*
Parathyroid Hormone-Related Protein*
Parathyroid Hormone-Related Protein

Reference

1. Kronenberg HM. PTHrP and skeletal development. Ann N Y Acad Sci. 2006; 1068:1–13.
Article
2. Silve C, Le-Stunff C, Motte E, Gunes Y, Linglart A, Clauser E. Acrodysostosis syndromes. Bonekey Rep. 2012; 1:225.
Article
3. Vortkamp A, Lee K, Lanske B, Segre GV, Kronenberg HM, Tabin CJ. Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein. Science. 1996; 273:613–622.
Article
4. Klopocki E, Hennig BP, Dathe K, Koll R, de Ravel T, Baten E, et al. Deletion and point mutations of PTHLH cause brachydactyly type E. Am J Hum Genet. 2010; 86:434–439.
Article
5. Maass PG, Wirth J, Aydin A, Rump A, Stricker S, Tinschert S, et al. A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to brachydactyly type E. Hum Mol Genet. 2010; 19:848–860.
Article
6. Wang J, Wang Z, An Y, Wu C, Xu Y, Fu Q, et al. Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature. Clin Chim Acta. 2015; 446:9–14.
Article
7. Bae J, Choi HS, Park SY, Lee DE, Lee S. Novel mutation in PTHLH related to brachydactyly type E2 initially confused with unclassical pseudopseudohypoparathyroidism. Endocrinol Metab. 2018; 33:252–259.
Article
8. Thomas-Teinturier C, Pereda A, Garin I, Diez-Lopez I, Linglart A, Silve C, et al. Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review. Am J Med Genet A. 2016; 170:734–742.
9. Maioli E, Fortino V. The complexity of parathyroid hormone-related protein signalling. Cell Mol Life Sci. 2004; 61:257–262.
Full Text Links
  • ENM
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr