Associated Papers
Hypophosphatasia: Low Penetrance of Pathogenic and Likely-Pathogenic ALPL Variants Identified Through an Unselected Biorepository.
Dahir KM et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025
Hypophosphatasia - Pathophysiological understanding, preclinical data looking beyond the skeleton, and upcoming treatments.
Millán JL
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025
Dentoalveolar defects and impaired alveolar bone healing in a neural crest directed conditional knockout mouse model of hypophosphatasia.
Mohamed FF et al.
Bone, 2025
Evaluation of Low Alkaline Phosphatase Levels in Clinical Practice: Implications for Diagnosing Hypophosphatasia.
Buyukyilmaz G et al.
Calcified Tissue International, 2025
Genetic characterization of a large cohort of individuals with a clinical suspicion of hypophosphatasia in the United States.
Rush ET et al.
Molecular Genetics and Metabolism, 2025
Hypophosphatasia: Clinical Clues and Management Considerations.
Corless JM et al.
Cureus, 2025
Dental manifestations of hypophosphatasia: translational and clinical advances.
Lira Dos Santos EJ et al.
Jbmr Plus, 2025
Establishment of human periodontal ligament cell lines with ALPL mutations to mimic dental aspects of hypophosphatasia.
Schiffmaier J et al.
Frontiers in Cell and Developmental Biology, 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
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
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
Hypophosphatasia Presenting as a Chronic Diffuse Pain Syndrome with Extra-Articular Calcifications.
Lehane F et al.
Journal of Clinical Medicine, 2024
Identification of Synonymous Pathogenic Variants in Monogenic Disorders by Integrating Exome with Transcriptome Sequencing.
Zhang L et al.
The Journal of Molecular Diagnostics : Jmd, 2024
The structural pathology for hypophosphatasia caused by malfunctional tissue non-specific alkaline phosphatase.
Yu Y et al.
Nature Communications, 2023
Odontohypophosphatasia caused by a novel combination of two heterozygous variants: a case report.
Jiang J et al.
The Journal of Clinical Pediatric Dentistry, 2023
Urine phosphoethanolamine is a specific biomarker for hypophosphatasia in adults.
Shajani-Yi Z et al.
Bone, 2022
Dentoalveolar Defects of Hypophosphatasia are Recapitulated in a Sheep Knock-In Model.
Mohamed FF et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 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
Perspective on Dentoalveolar Manifestations Resulting From PHOSPHO1 Loss-of-Function: A Form of Pseudohypophosphatasia?
Mohamed FF et al.
Frontiers in Dental Medicine, 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
Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?
İnci A et al.
Journal of Bone and Mineral Metabolism, 2021
Six ALPL gene variants in five children with hypophosphatasia.
Su N et al.
Annals of Translational Medicine, 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
Dental defects in the primary dentition associated with hypophosphatasia from biallelic ALPL mutations.
Kramer K et al.
Bone, 2021
Tissue-Nonspecific Alkaline Phosphatase-A Gatekeeper of Physiological Conditions in Health and a Modulator of Biological Environments in Disease.
Liedtke D et al.
Biomolecules, 2020
Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal Karyotypes.
Qi Q et al.
Genes, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 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
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Genetic analysis of adults heterozygous for ALPL mutations.
Taillandier A et al.
Journal of Bone and Mineral Metabolism, 2018
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Clinical and Genetic Findings of Turkish Hypophosphatasia Cases.
Sağlam H et al.
Journal of Clinical Research in Pediatric Endocrinology, 2017
Successful Asfotase Alfa Treatment in an Adult Dialysis Patient With Childhood-Onset Hypophosphatasia.
Remde H et al.
Journal of the Endocrine Society, 2017
Molecular defect of tissue-nonspecific alkaline phosphatase bearing a substitution at position 426 associated with hypophosphatasia.
Al-Shawafi HA et al.
Molecular and Cellular Biochemistry, 2017
Conditional Alpl Ablation Phenocopies Dental Defects of Hypophosphatasia.
Foster BL et al.
Journal of Dental Research, 2017
Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment.
Whyte MP
Nature Reviews. Endocrinology, 2016
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.
Taillandier A et al.
Molecular Genetics and Metabolism, 2015
Molecular phenotype of tissue-nonspecific alkaline phosphatase with a proline (108) to leucine substitution associated with dominant odontohypophosphatasia.
Numa-Kinjoh N et al.
Molecular Genetics and Metabolism, 2015
Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.
Whyte MP et al.
Bone, 2015
Periodontal Defects in the A116T Knock-in Murine Model of Odontohypophosphatasia.
Foster BL et al.
Journal of Dental Research, 2015
Molecular evolution of the tissue-nonspecific alkaline phosphatase allows prediction and validation of missense mutations responsible for hypophosphatasia.
Silvent J et al.
The Journal of Biological Chemistry, 2014
[Infantile hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene].
Zhao Z et al.
Zhonghua Nei Ke Za Zhi, 2013
An asparagine at position 417 of tissue-nonspecific alkaline phosphatase is essential for its structure and function as revealed by analysis of the N417S mutation associated with severe hypophosphatasia.
Sultana S et al.
Molecular Genetics and Metabolism, 2013