Results 31 to 40 of about 13,848 (209)

Diagnosis of Hypophosphatasia in Adults Presenting With Metatarsal Stress Fracture: Proof‐of‐Concept for a Case‐Finding Strategy

open access: yesJBMR 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

Characterization of Genetic Variants of Uncertain Significance for the ALPL Gene in Patients With Adult Hypophosphatasia

open access: yesFrontiers 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

Bmp induces osteoblast differentiation through both Smad4 and mTORC1 signaling [PDF]

open access: yes, 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]

open access: yesFrontiers 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

A revision of the Generalized Uncertainty Principle [PDF]

open access: yes, 2008
The Generalized Uncertainty Principle arises from the Heisenberg Uncertainty Principle when gravity is taken into account, so the leading order correction to the standard formula is expected to be proportional to the gravitational constant $G_N = L_{Pl ...
Amelino-Camelia G   +8 more
core   +1 more source

Pbx loss in cranial neural crest, unlike in epithelium, results in cleft palate only and a broader midface. [PDF]

open access: yes, 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

Inhibition of EZH2 Promotes Human Embryonic Stem Cell Differentiation into Mesoderm by Reducing H3K27me3. [PDF]

open access: yes, 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   +2 more sources

MiR-33a Controls hMSCS Osteoblast Commitment Modulating the Yap/Taz Expression Through EGFR Signaling Regulation [PDF]

open access: yes, 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

The galectin-3/RAGE dyad modulates vascular osteogenesis in atherosclerosis [PDF]

open access: yes, 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

Two children with hypophosphatasia with a heterozygous c.1559delT variant in the ALPL gene, the most common variant in Japanese populations

open access: yesBone 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

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