Results 171 to 180 of about 10,054 (208)

Matrix-Bound and Media-Derived Extracellular Vesicles from Mineralized Osteoblasts Exhibit Distinct Osteogenic Activities. [PDF]

Int J Mol Sci
Guerrero J, Ghayor C, Domínguez AP, Bhattacharya I, Weber FE.   +4 more
europepmc   +1 more source

Bilateral healing of pseudofractures in hypophosphatasia with teriparatide: a case report. [PDF]

J Med Case Rep
Al-Saoudi E, Hepp N, Jensen JB.
europepmc   +1 more source

Razvijanje in upravljanje znanja v podjetju Alples, d. d.

, 2016
openaire   +1 more source

Enamel defects in the Alpl-/- murine model of infantile hypophosphatasia

Enamel defects in the Alpl-/- murine model of infantile hypophosphatasia
openaire   +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
Tatsuya Atsumi, Tomohiro Shimizu, Takuya Asaka   +2 more
exaly   +6 more sources

Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene†‡

Human Mutation, 2003
Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. We report the characterization of ALPL gene mutations in a series of 11 families from various origins affected by perinatal and infantile hypophosphatasia.
S-A Ivarsson, A Taillandier, B Simon-Bouy   +2 more
exaly   +5 more sources

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ALPL mutations in adults with rheumatologic disorders and low serum alkaline phosphatase activity

Journal of Bone and Mineral Metabolism, 2019
Tissue-nonspecific alkaline phosphatase (ALP), encoded by ALPL, is important for bone homeostasis and interacts with collagen type I. In the present study, we sequenced ALPL and a panel of collagen type I-related genes in 24 adults (age 22-80 years; 20 female) with persistently low serum ALP (
Cheryl Rockman-Greenberg, Frank Rauch, Ghalib Bardai   +2 more
exaly   +3 more sources