Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia
Frontiers in Endocrinology, 2023 IntroductionHypophosphatasia (HPP) is a rare genetic disease caused by inactivating variants of the ALPL gene. Few data are available on the clinical presentation in Italy and/or on Italian HPP surveys.MethodsThere were 30 suspected HPP patients ...
Luigia Cinque +30 more
doaj +1 more source
Molecular Genetics & Genomic Medicine, 2023 Hypophosphatasia (HPP) is an underrecognized, complex bone mineralization disorder with variable manifestations caused by one or two deleterious variants in the alkaline phosphatase (ALPL) gene.
Natalie M. Beck +9 more
doaj +1 more source
Establishment of a new human iPSC cell line (UOMi007-A) from a patient with Hypophosphatasia
Stem Cell Research, 2022 Hypophosphatasia (HPP) is a rare, inherited, metabolic, genetic disorder, which arises due to loss of function mutation in the alkaline phosphatase (ALPL) gene.
Abhay Srivastava +3 more
doaj +1 more source
Novel mutation in the ALPL gene with a dominant negative effect in a Japanese family [PDF]
Journal of Bone and Mineral Metabolism, 2021 Hypophosphatasia (HPP) is caused by mutations in the ALPL gene encoding tissue nonspecific alkaline phosphatase (TNSALP) and inherited in either an autosomal recessive or autosomal dominant manner. It is characterized clinically by defective mineralization of bone, dental problems, and low serum ALP levels. In the current report, we demonstrate a novel
Masaru Kato +8 more
openaire +3 more sources
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
core +6 more sources
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
Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene. [PDF]
J Clin Res Pediatr Endocrinol, 2016 Hypophosphatasia is a rare inherited disorder of bone and mineral metabolism caused by a number of loss-of-function mutations in the ALPL gene. It is characterized by defective bone and tooth mineralisation associated with low serum and bone alkaline phosphatase activity. The clinical presentation of this disease is extremely variable. For this reason,
Güzel Nur B +5 more
europepmc +3 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
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
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