Frontiers in Endocrinology, 2022 Hypophosphatasia (HPP) a rare disease caused by mutations in the ALPL gene encoding for the tissue-nonspecific alkaline phosphatase protein (TNSALP), has been identified as a potentially under-diagnosed condition worldwide which may have higher ...
Raquel Sanabria-de la Torre +29 more
doaj +1 more source
Global Gene Expression Analysis Identifies Age-Related Differences in Knee Joint Transcriptome during the Development of Post-Traumatic Osteoarthritis in Mice. [PDF]
, 2020 Aging and injury are two major risk factors for osteoarthritis (OA). Yet, very little is known about how aging and injury interact and contribute to OA pathogenesis.
Christiansen, Blaine A +7 more
core +2 more sources
A Geometric Variational Approach to Bayesian Inference [PDF]
, 2019 We propose a novel Riemannian geometric framework for variational inference in Bayesian models based on the nonparametric Fisher-Rao metric on the manifold of probability density functions.
Abhijoy Saha +28 more
core +4 more sources
MiR-33a Controls hMSCS Osteoblast Commitment Modulating the Yap/Taz Expression Through EGFR Signaling Regulation [PDF]
, 2019 Mesenchymal stromal cells (hMSCs) display a pleiotropic function in bone regeneration. The signaling involved in osteoblast commitment is still not completely understood, and that determines the failure of current therapies being used.
Alessandro, Riccardo +9 more
core +1 more source
Inhibition of EZH2 Promotes Human Embryonic Stem Cell Differentiation into Mesoderm by Reducing H3K27me3. [PDF]
, 2017 Mesoderm derived from human embryonic stem cells (hESCs) is a major source of the mesenchymal stem/stromal cells (MSCs) that can differentiate into osteoblasts and chondrocytes for tissue regeneration.
Aghaloo, Tara +6 more
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Bone Reports, 2022 Hypophosphatasia (HPP), a genetic disorder characterized by decreased tissue-nonspecific alkaline phosphatase (TNSALP) activity, is caused by loss-of-function mutations in the ALPL gene, which encodes TNSALP.
Hiroshi Kitoh +6 more
doaj +1 more source
Bioactive sphene-based ceramic coatings on cpTi substrates for dental implants: An in vitro study [PDF]
, 2018 Titanium implant surface modifications have been widely investigated to favor the process of osseointegration. The present work aimed to evaluate the effect of sphene (CaTiSiO5) biocoating, on titanium substrates, on the in vitro osteogenic ...
Badocco, Denis +8 more
core +2 more sources
Extracellular vesicle microRNAs contribute to the osteogenic inhibition of mesenchymal stem cells in multiple myeloma [PDF]
, 2020 Osteolytic bone disease is the major complication associated with the progression of multiple myeloma (MM). Recently, extracellular vesicles (EVs) have emerged as mediators of MM-associated bone disease by inhibiting the osteogenic differentiation of ...
Alessandro R. +10 more
core +1 more source
THU459 Hypophosphatasia With Normal ALPL Gene Test; A Case Report
Journal of the Endocrine Society, 2023 Abstract Disclosure: K. Alkwatli: None. L.Z. Khan: None. Introduction: Hypophosphatasia is a rare hereditary disorder caused by loss of tissue nonspecific alkaline phosphatase activity, an essential enzyme in phosphate metabolism. Severe cases present perinatally and in early childhood.
Alkwatli, Kenda, Khan, Leila Zeinab
openaire +1 more source
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 Kumar Bhadada +6 more
openalex +4 more sources