PLoS Computational Biology, 2022 Hypophosphatasia (HPP) is a rare inherited disorder characterized by defective bone mineralization and is highly variable in its clinical phenotype.
Fei Xiao +6 more
doaj +1 more source
Pbx loss in cranial neural crest, unlike in epithelium, results in cleft palate only and a broader midface. [PDF]
, 2018 Orofacial clefting represents the most common craniofacial birth defect. Cleft lip with or without cleft palate (CL/P) is genetically distinct from cleft palate only (CPO).
Berkes +78 more
core +1 more source
The effect of ALPL gene polymorphism on the development of urolithiasis in the Turkish population
Urolithiasis, 2022 Urinary system stones have a complex pathophysiology affected by environmental and genetic factors. To confirm whether ALPL gene polymorphisms are an effective universal risk factor for the development of urolithiasis, we aimed to investigate ALPL gene polymorphism in Turkish population. Our study was carried out with 187 patients with urolithiasis and
Altundag İbrahim +5 more
openaire +3 more sources
Identifying adult hypophosphatasia in the rheumatology unit
Orphanet Journal of Rare Diseases, 2022 Background The most frequent manifestation in adult hypophosphatasia (HPP) is musculoskeletal pain. The unspecific nature of its clinical presentation may prevent correct diagnosis.
Julia Feurstein +9 more
doaj +1 more source
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
SLC26A Gene Family Participate in pH Regulation during Enamel Maturation. [PDF]
, 2015 The bicarbonate transport activities of Slc26a1, Slc26a6 and Slc26a7 are essential to physiological processes in multiple organs. Although mutations of Slc26a1, Slc26a6 and Slc26a7 have not been linked to any human diseases, disruption of Slc26a1 ...
Kurtz, Ira +8 more
core +7 more sources
The galectin-3/RAGE dyad modulates vascular osteogenesis in atherosclerosis [PDF]
, 2013 Vascular calcification correlates with inflammation and plaque instability in a dual manner, depending on the spotty/granular (micro) or sheet-like/lamellated (macro) pattern of calcification.
BLASETTI FANTAUZZI, Claudia +9 more
core +1 more source
Differing calcification processes in cultured vascular smooth muscle cells and osteoblasts [PDF]
, 2019 © 2019 Published by Elsevier Inc.Arterial medial calcification (AMC) is the deposition of calcium phosphate mineral, often as hydroxyapatite, inthe medial layer of the arteries.
Arnett, Timothy R +6 more
core +5 more sources
Phenotypic Profiling in Subjects Heterozygous for 1 of 2 Rare Variants in the Hypophosphatasia Gene (ALPL) [PDF]
Journal of the Endocrine Society, 2020 Abstract Context Hypophosphatasia (HPP) is a syndrome marked by low serum alkaline phosphatase (AlkP) activity as well as musculoskeletal and/or dental disease. While the majority of subjects with HPP carry a pathogenic variant in the ALPL gene or its regulatory regions, individual pathogenic variants
Daniel R Tilden +7 more
openaire +3 more sources
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