Potential pathological role of single nucleotide polymorphism (c.787T>C) in <i>alkaline phosphatase (ALPL)</i> for the phenotypes of hypophosphatasia-Reference-Cited by-同舟云学术

Potential pathological role of single nucleotide polymorphism (c.787T>C) in alkaline phosphatase (ALPL) for the phenotypes of hypophosphatasia

Published:2020 Issue:12 Volume:67 Page:1227-1232
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

Matsuda Nozomi¹²,Takasawa Kei¹,Ohata Yasuhisa³,Takishima Shigeru¹²,Kubota Takuo³,Ishihara Yasuki³⁴⁵,Fujiwara Makoto³⁴,Ogawa Erika⁶,Morio Tomohiro¹,Kashimada Kenichi¹,Ozono Keiichi³

Affiliation:

1. Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo 113-8510, Japan

2. Department of Pediatrics, Soka Municipal Hospital, Saitama 340-8560, Japan

3. Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka 565-0871, Japan

4. The first Department of Oral and Maxillofacial Surgery, Osaka University Graduate School of Dentistry, Osaka 565-0871, Japan

5. Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Osaka 565-0871, Japan

6. Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo 101-8309, Japan

Publisher

Japan Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.jstage.jst.go.jp/article/endocrj/67/12/67_EJ20-0203/_pdf

Reference19 articles.

1. 1 Mornet E (2018) Hypophosphatasia. Metabolism 82: 142–155.

2. 2 Henthorn PS, Raducha M, Fedde KN, Lafferty MA, Whyte MP (1992) Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. Proc Natl Acad Sci U S A 89: 9924–9928.

3. 3 Wan J, Zhang L, Liu T, Wang Y (2017) Genetic evaluations of Chinese patients with odontohypophosphatasia resulting from heterozygosity for mutations in the tissue-non-specific alkaline phosphatase gene. Oncotarget 8: 51569–51577.

4. 4 Tanaka T, Yamashita A, Ichihara K (2008) Reference intervals of clinical tests in children determined by a latent reference value extraction method. J Jpn Pediatr Soc 112: 1117–1132 (In Japanese).

5. 5 Akiyama T, Akiyama M, Hayashi Y, Shibata T, Hanaoka Y, et al. (2017) Measurement of pyridoxal 5'-phosphate, pyridoxal, and 4-pyridoxic acid in the cerebrospinal fluid of children. Clin Chim Acta 466: 1–5.

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1. Asfotase Alfa Treatment in a 2-year-old Girl with Childhood Hypophosphatasia;The Journal of Pediatric Research;2022-06-01

2. Novel mutation in the ALPL gene with a dominant negative effect in a Japanese family;Journal of Bone and Mineral Metabolism;2021-04-05