A unique case of childhood hypophosphatasia caused by a novel heterozygous 51-bp in-frame deletion in the ALPL gene. [PDF]
Clin Pediatr Endocrinol, 2023 Tachikawa K, Yamazaki M, Michigami T.
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Fibroblasts profiling in scarring trachoma identifies IL-6 as a functional component of a fibroblast-macrophage pro-fibrotic and pro-inflammatory feedback loop [PDF]
, 2016 Trachoma is a conjunctiva scarring disease, which is the leading infectious cause of blindness worldwide. Yet, the molecular mechanisms underlying progressive fibrosis in trachoma are unknown. To investigate the contribution of local resident fibroblasts
Bailly, M +3 more
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New homozygous mutation in ALPL gene in Saudi patient with infantile hypophosphatasia [PDF]
Clinical and Medical Investigations, 2017 Maha Alotaibi, Al Qassmi Amal
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Notch signaling suppresses glucose metabolism in mesenchymal progenitors to restrict osteoblast differentiation [PDF]
, 2018 Fanxin Long +5 more
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Hypophosphatasia: Phenotypic Variability and Possible Croatian Origin of the c.1402G>A Mutation of TNSALP Gene [PDF]
, 2009 Hypophosphatasia is a metabolic bone disease characterized by bone and teeth hypomineralization due to defective function of tissue-nonspecific alkaline phosphatase (TNSALP).
Danijela Petkovi} +8 more
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NASA Report on Cal/Val Activities [PDF]
NASA report on Calibration/Validation activities, including recent launches of ICESat-2, GEDI and OCO ...
Thome, K.
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Journal of Rare DiseasesHypophosphatasia (HPP) is a rare inborn error of metabolism characterized by defective bone mineralization due to alkaline phosphatase (ALP) deficiency encoded by the gene ALPL (Orphanet J Rare Dis 2:40, 2007), (Am J Med 22:730-746, 1957).
Tram Le +3 more
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PCR detection of a Bc/l RFLP in the human ALPL gene
Nucleic Acids Research, 1991 T, Okuyama +3 more
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Tissue Nonspecific Alkaline Phosphatase (TNAP) Regulates Cranial Base Growth and Synchondrosis Maturation [PDF]
, 2017 Hwa K. Nam +3 more
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