Results 31 to 40 of about 14,236 (244)
Frontiers in Oncology, 2021 Thyroid carcinoma is a solid malignant tumor that has had a fast-growing incidence in recent years. Our research used thyroid carcinoma gene expression profiling from TCGA (The Cancer Genome Atlas) database to identify differentially expressed ceRNAs ...
Fan Zhang +6 more
doaj +1 more source
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
Conditional Alpl Ablation Phenocopies Dental Defects of Hypophosphatasia [PDF]
Journal of Dental Research, 2016 Loss-of-function mutations in ALPL result in hypophosphatasia (HPP), an inborn error of metabolism that causes defective skeletal and dental mineralization. ALPL encodes tissue-nonspecific alkaline phosphatase, an enzyme expressed in bone, teeth, liver, and kidney that hydrolyzes the mineralization inhibitor inorganic pyrophosphate.
Brian L. Foster +9 more
openalex +4 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
Genotype–Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia [PDF]
Calcified Tissue International, 2020 AbstractHypophosphatasia (HPP) is a rare inborn error of metabolism due to a decreased activity of tissue nonspecific alkaline phosphatase (TNSALP). As the onset and severity of HPP are heterogenous, it can be challenging to determine the pathogenicity of detected rare ALPL variants in symptomatic patients.
Jandl, Nico Maximilian +10 more
openaire +2 more sources
Biochemical algorithm to identify individuals with ALPL variants among subjects with persistent hypophosphatasaemia [PDF]
Orphanet Journal of Rare Diseases, 2022 Abstract Background Hypophosphatasia (HPP) is a rare and underdiagnosed condition characterized by deficient bone and teeth mineralization. The aim of this study was first, to evaluate the diagnostic utility of employing alkaline phosphatase (ALP) threshold levels to identify adults with variants in ALPL among ...
C. Tornero +8 more
openaire +5 more sources
Acidosis Is a Key Regulator of Osteoblast Ecto-Nucleotidase Pyrophosphatase/Phosphodiesterase 1 (NPP1) Expression and Activity [PDF]
, 2015 Previous work has shown that acidosis prevents bone nodule formation by osteoblasts in vitro by inhibiting mineralisation of the collagenous matrix.
Arnett, T R +4 more
core +2 more sources
JBMR Plus, 2021 Hypophosphatasia (HPP) is caused by loss‐of‐function mutations in ALPL resulting in decreased alkaline phosphatase (ALP) activity. Metatarsal stress fracture (MSF) is a common clinical feature of hypophosphatasia in adults.
Kenna Koehler +3 more
doaj +1 more source
Bmp induces osteoblast differentiation through both Smad4 and mTORC1 signaling [PDF]
, 2017 The bone morphogenetic protein (Bmp) family of secreted molecules has been extensively studied in the context of osteoblast differentiation. However, the intracellular signaling cascades that mediate the osteoblastogenic function of Bmp have not been ...
Karner, Courtney M +2 more
core +2 more sources
Case Report: Variations in the ALPL Gene in Chinese Patients With Hypophosphatasia [PDF]
Frontiers in Genetics, 2021 Background: Hypophosphatasia (HPP) is an autosomal genetic disorder characterized biochemically by abnormal of bone parameters and serum alkaline phosphatase (ALP) activity as well as clinically by deficiency of teeth and bone mineralization. The clinical presentation is a continuum ranging from a prenatal lethal form with no skeletal mineralization to
Qiang Zhang +7 more
openaire +3 more sources