Results 51 to 60 of about 10,054 (208)
Adult hypophosphatasia with a novel ALPL mutation: Report of an Indian kindred
Bone Reports, 2020 Hypophosphatasia is an inborn error in metabolism characterized by low serum alkaline phosphatase (ALP) activity resulting from deactivating mutations in TNSALP (also known as ALPL), the gene that encodes the 'tissue-specific' isoenzyme of ALP. The disease exhibits significant clinical heterogeneity that spans from death in utero to only dental ...
Sanjay K. Bhadada +6 more
openaire +3 more sources
Lack of acellular cementum on Alpl−/− molar root surfaces.
, 2013 Backcattered SEM was employed to explore the cervical root surface (white boxes) in (A) Alpl+/+ control and (B) Alpl−/− first molars. At higher magnification, the acellular cementum layer (white arrows) in the (C) control molar can be distinguished by ...
Francisco H. Nociti Jr. (320573) +9 more
core +1 more source
Научно-практическая ревматология, 2004 Objective. To investigate the distribution of alkaline phosphatase (ALPL), acid phosphatase I (ACPI), receptor lipoprotein low density (LDLR) and vitamin D binding protein (GC) genotypes in osteoporotic ana nonosteoporotic postmenopausal women and the ...
M Y Krylov +2 more
doaj +1 more source
A novel missense mutation in the ALPL gene causes dysfunction of the protein
Molecular Medicine Reports, 2017 Hypophosphatasia (HP) is a rare genetic disease caused by mutation in the alkaline phosphatase, liver/bone/kidney (ALPL) gene with highly variable clinical manifestations. Efforts have been made to collect cases with novel mutations and to examine how a missense mutation affects ALPL protein function, which remains difficult to predict.
Chen, Bin +5 more
openaire +3 more sources
Advanced Science, EarlyView.Maternal exercise (ME) increases apelin abundance across maternal and fetal tissues and is associated with improved fetal osteogenesis under POLG mutation‐induced mitochondrial dysfunction. Apelin‐APJ signaling is linked to enhanced mitochondrial function, Akt phosphorylation, and ATF4‐RUNX2 association, supporting coordinated fetal bone remodeling ...
Song Ah Chae +5 more
wiley +1 more source
Fzd7 Restrains Pink1‐Dependent Mitophagy in Suture Stem Cells to Maintain Cranial Suture Patency
Advanced Science, EarlyView.How suture stem cells fail to preserve cranial suture patency remains incompletely understood. Integrated single‐cell and high‐resolution spatial transcriptomic analyses identify reduced Fzd7 expression in Prrx1+ suture stem cells as an early feature of craniosynostosis.
Xinyan Chen +10 more
wiley +1 more source
, 2020 Additional file 1: Table S1. List of subjects displaying ALPL disease causing variants observed in the cohort according to the transcript NM_000478.4, clinical features associated and family history ...
P. Lapunzina (8460228) +11 more
core +1 more source
Loss‐of‐function mutations in the ALPL gene presenting with adult onset osteoporosis and low serum concentrations of total alkaline phosphatase [PDF]
, 2020 Hypophosphatasia (HPP) is a rare inherited disorder characterized by rickets and low circulating concentrations of total alkaline phosphatase (ALP) caused by mutations in ALPL.
Deary, Ian J +19 more
core +1 more source
Journal of NanobiotechnologyBackground Early-onset bone dysplasia is a common manifestation of hypophosphatasia (HPP), an autosomal inherited disease caused by ALPL mutation. ALPL ablation induces prototypical premature bone ageing characteristics, resulting in impaired osteogenic ...
Jiayi Dong +8 more
doaj +1 more source
Advanced Science, EarlyView.Matrix stiffness directs mesenchymal stem cell lineage commitment through PIEZO1‐dependent activation of the SP1/STC2 pathway. Stiff matrices favor osteogenesis and suppress adipogenesis, whereas the loss of PIEZO1 function impairs early bone formation. STC2 retains lineage‐regulatory activity even when PIEZO1 is inactive.
Shuo Zhang +12 more
wiley +1 more source