ArticleJournal of bone and mineral metabolism2019
ALPL mutations in adults with rheumatologic disorders and low serum alkaline phosphatase activity.
Article in Journal of bone and mineral metabolism, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 11 citations in OpenAlex.
- SEC24D depletion induces osteogenic differentiation deficiency by inactivating the ATF6/TGF-β/Runx2 regulatory loop.Communications biology · 2025Article
- A new insight of immunosuppressive microenvironment in osteosarcoma lung metastasis.Experimental biology and medicine (Maywood, N.J.) · 2023Article
- Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia.Frontiers in endocrinology · 2023Article
- Clinical, biochemical and genetic findings in adult patients with chronic hypophosphatasemia.Journal of endocrinological investigation · 2022Article
- Characterization of Genetic Variants of Uncertain Significance for theFrontiers in endocrinology · 2022Article
- Diagnosis of Hypophosphatasia in Adults Presenting With Metatarsal Stress Fracture: Proof-of-Concept for a Case-Finding Strategy.JBMR plus · 2021Article
- Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management.Molecular genetics and metabolism reports · 2020Article
- Circular RNA SIPA1L1 regulates osteoblastic differentiation of stem cells from apical papilla via miR-204-5p/ALPL pathway.Stem cell research & therapy · 2020Article
- Loss-of-Function Mutations in the ALPL Gene Presenting with Adult Onset Osteoporosis and Low Serum Concentrations of Total Alkaline Phosphatase.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2020Article
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tissue-nonspecific alkaline phosphatase (ALP), encoded by ALPL, is important for bone homeostasis and interacts with collagen type I. In the present study, we sequenced ALPL and a panel of collagen type I-related genes in 24 adults (age 22-80 years; 20 female) with persistently low serum ALP (< 40 U/L) and a range of rheumatologic symptoms. We found heterozygous pathogenic or likely pathogenic variants in ALPL in 14 (58%) of these individuals. In addition, 7 study participants had potentially damaging heterozygous variants of uncertain significance in genes related to collagen type I. Patients who were positive for ALPL variants had similar age and serum ALP levels to patients in whom no ALPL variants were detected, but had higher serum pyridoxal-5-phosphate concentrations (median 214 nmol/L vs. 64 nmol/L; p = 0.02; U test). In summary, heterozygous ALPL variants are frequent in individuals with rheumatologic symptoms and low ALP serum activity. It is possible that variants in genes that are involved in collagen type I production have a modifying effect on the clinical consequences of such ALPL variants.
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