Associated Papers
Decoding a Skeletal Mystery: Prenatal Diagnosis of ALPL mutation using Whole Exome Sequencing.
Gothwal M et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2025
Newborn screening for hypophosphatasia: development of a high-throughput tissue nonspecific alkaline phosphatase activity assay using dried blood spots.
Noda Y et al.
Jbmr Plus, 2025
New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry.
Kishnani PS et al.
American Journal of Medical Genetics. Part A, 2024
The structural pathology for hypophosphatasia caused by malfunctional tissue non-specific alkaline phosphatase.
Yu Y et al.
Nature Communications, 2023
Dissecting mutational allosteric effects in alkaline phosphatases associated with different Hypophosphatasia phenotypes: An integrative computational investigation.
Xiao F et al.
Plos Computational Biology, 2022
Potential pathological role of single nucleotide polymorphism (c.787T>C) in alkaline phosphatase (ALPL) for the phenotypes of hypophosphatasia.
Matsuda N et al.
Endocrine Journal, 2020
Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia.
Del Angel G et al.
Human Mutation, 2020
Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types.
Okawa R et al.
Plos One, 2019
Mutational and biochemical findings in adults with persistent hypophosphatasemia.
McKiernan FE et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2017
[Infantile hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene].
Zhao Z et al.
Zhonghua Nei Ke Za Zhi, 2013
Outcome of perinatal hypophosphatasia in manitoba mennonites: a retrospective cohort analysis.
Leung EC et al.
Jimd Reports, 2013
Functional evaluation of mutations in the tissue-nonspecific alkaline phosphatase gene.
Zhu T et al.
The Chinese Journal of Dental Research, 2012
Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles.
Fauvert D et al.
Bmc Medical Genetics, 2009
Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement.
Stevenson DA et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Molecular effects of the tissue-nonspecific alkaline phosphatase gene polymorphism (787T > C) associated with bone mineral density.
Sogabe N et al.
Biomedical Research (tokyo, Japan), 2008
Characterization of the mutant (A115V) tissue-nonspecific alkaline phosphatase gene from adult-type hypophosphatasia.
Watanabe H et al.
Biochemical and Biophysical Research Communications, 2005
The mutant (F310L and V365I) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia.
Takinami H et al.
Journal of Medical and Dental Sciences, 2004
Function of mutant (G1144A) tissue-nonspecific ALP gene from hypophosphatasia.
Watanabe H et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2002
Importance of deletion of T at nucleotide 1559 in the tissue-nonspecific alkaline phosphatase gene in Japanese patients with hypophosphatasia.
Orimo H et al.
Journal of Bone and Mineral Metabolism, 2002
Severe hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.
Stoll C et al.
Genetic Counseling (geneva, Switzerland), 2002
Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.
Mornet E
Human Mutation, 2000