Associated Papers
A novel dominant negative variant of ALPL induces hypophosphatasia.
Chen G et al.
Jbmr Plus, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Molecular study of patients with odontohypophosphatasia resulting from missense mutation in ALPL.
Yue H et al.
Oral Diseases, 2024
The structural pathology for hypophosphatasia caused by malfunctional tissue non-specific alkaline phosphatase.
Yu Y et al.
Nature Communications, 2023
Molecular testing strategies in the evaluation of fetal skeletal dysplasia.
Jelin AC et al.
The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2022
Dissecting mutational allosteric effects in alkaline phosphatases associated with different Hypophosphatasia phenotypes: An integrative computational investigation.
Xiao F et al.
Plos Computational Biology, 2022
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
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
Loss-of-Function Mutations in the ALPL Gene Presenting with Adult Onset Osteoporosis and Low Serum Concentrations of Total Alkaline Phosphatase.
Alonso N et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2020
Association of ALPL variants with serum alkaline phosphatase and bone traits in the general Japanese population: The Nagahama Study.
Nagata M et al.
Journal of Human Genetics, 2020
Can we identify individuals with an ALPL variant in adults with persistent hypophosphatasaemia?
Tornero C et al.
Orphanet Journal of Rare Diseases, 2020
Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.
Tenorio J et al.
American Journal of Medical Genetics. Part A, 2017
Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults.
Riancho-Zarrabeitia L et al.
European Journal of Internal Medicine, 2016
Novel ALPL genetic alteration associated with an odontohypophosphatasia phenotype.
Martins L et al.
Bone, 2013
Hypophosphatasia-associated deficiencies in mineralization and gene expression in cultured dental pulp cells obtained from human teeth.
Rodrigues TL et al.
Journal of Endodontics, 2012
Correction of hypophosphatasia-associated mineralization deficiencies in vitro by phosphate/pyrophosphate modulation in periodontal ligament cells.
Rodrigues TL et al.
Journal of Periodontology, 2012