Associated Papers
Revisiting the Genetics of Hypophosphatasia.
Kishnani PS et al.
Journal of Inherited Metabolic Disease, 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
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
Molecular study of patients with odontohypophosphatasia resulting from missense mutation in ALPL.
Yue H et al.
Oral Diseases, 2024
Catalyzing precision: unraveling the diagnostic conundrum of tunisian familial hypophosphatasia case through integrative clinical and molecular approaches.
Amri Y et al.
Molecular Genetics and Genomics : Mgg, 2024
Serum alkaline phosphatase can be elevated in patients with hypophosphatasia due to liver disease.
van Velsen EFS et al.
European Journal of Medical Genetics, 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
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD et al.
Nature, 2021
Clinical and genetic characteristics of hypophosphatasia in Chinese children.
Liu M et al.
Orphanet Journal of Rare Diseases, 2021
Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation.
Mornet E et al.
European Journal of Human Genetics : Ejhg, 2021
Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management.
Huggins E et al.
Molecular Genetics and Metabolism Reports, 2020
Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children.
Vogt M et al.
Orphanet Journal of Rare Diseases, 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
Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients.
Michigami T et al.
Calcified Tissue International, 2020
Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review.
Mao X et al.
Bmc Pediatrics, 2019
Update on the use of exome sequencing in the diagnosis of fetal abnormalities.
Ferretti L et al.
European Journal of Medical Genetics, 2019
Clinical and genetic aspects of hypophosphatasia in Japanese patients.
Taketani T et al.
Archives of Disease in Childhood, 2014
[Infantile hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene].
Zhao Z et al.
Zhonghua Nei Ke Za Zhi, 2013
Characterization of six missense mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in Chinese children with hypophosphatasia.
Yang H et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 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
Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia.
Michigami T et al.
European Journal of Pediatrics, 2005
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
Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.
Spentchian M et al.
Human Mutation, 2003
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