TRPV6 Gene Mutation in a Dizygous Twin With Transient Neonatal Hyperparathyroidism-Reference-Cited by-同舟云学术

TRPV6 Gene Mutation in a Dizygous Twin With Transient Neonatal Hyperparathyroidism

Published:2019-01-03 Issue:3 Volume:3 Page:602-606
ISSN:2472-1972
Container-title:Journal of the Endocrine Society
language:en
Short-container-title:

Author:

Yamashita Sumie¹^ORCID,Mizumoto Hiroshi¹,Sawada Hirotake²,Suzuki Yoshiro³,Hata Daisuke¹

Affiliation:

1. Department of Pediatrics, Kitano Hospital, Tazuke Kofukai Medical Research Institute, Osaka, Japan

2. Division of Pediatrics, Department of Developmental and Urological-Reproductive Medicine, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

3. Division of Cell Signaling, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Okazaki, Japan

Publisher

The Endocrine Society

Subject

Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jes/article-pdf/3/3/602/27981085/js.2018-00374.pdf

Reference10 articles.

1. Calcium channel TRPV6 is involved in murine maternal-fetal calcium transport;Suzuki;J Bone Miner Res,2008

2. Mechanisms and regulation of epithelial Ca2+ absorption in health and disease;Suzuki;Annu Rev Physiol,2008

3. TRPV6 variants interfere with maternal-fetal calcium transport through the placenta and cause transient neonatal hyperparathyroidism;Suzuki;Am J Hum Genet,2018

4. TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton;Burren;Am J Med Genet A,2018

5. Pediatric data for dual X-ray absorptiometric measures of normal lumbar bone mineral density in children under 5 years of age using the lunar prodigy densitometer;Manousaki;J Musculoskelet Neuronal Interact,2016

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