Expressions of Alpl mRNA and alkaline phosphatase (AP) activity in the early pregnant uterus.
, 2016 (A) The levels of Alpl mRNA were determined by qRT-PCR. Results were normalized to the housekeeping gene Rpl7 and presented as the mean ± SD of three separate experiments, with different letters (a, b, c) indicating statistical difference (p Alpl mRNA ...
Wei Lei (132543) +4 more
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Dentistry JournalThe osteogenic differentiation process, by which bone marrow mesenchymal stem cells and osteoprogenitors transform into osteoblasts, is regulated by several growth factors, cytokines, and hormones.
Eduardo Anitua +3 more
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Regional assignment of the gene for human liver/bone/kidney alkaline phosphatase to chromosome 1p36.1–p34 [PDF]
, 1988 We have used three different methods to map the human liver/bone/kidney alkaline phosphatase (ALPL) locus: (1) Southern blot analysis of DNA derived from a panel of human-rodent somatic cell hybrids; (2) in situ hybridization to human chromosomes; and (3)
Weiss, Mitchell J +7 more
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Hypophosphatasia in childhood: Diagnosis to management
Osteoporosis and SarcopeniaHypophosphatasia (HPP) is a rare inherited metabolic bone disorder caused by loss-of-function mutations in the ALPL gene, leading to deficient activity of tissue-nonspecific alkaline phosphatase (TNSALP).
Minji Im, Sung Yoon Cho
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Vitamin B6 challenge as a tool for detecting ALPL mutations and diagnosing hypophosphatasia [PDF]
Low serum alkaline phosphatase is the biochemical hallmark of hypophosphatasia. However, it is a non-specific finding. Here we show that a 2-day vitamin B6 challenge is useful to identify carriers of ALPL gene mutations among patients with low serum ...
Riancho Moral, José Antonio +8 more
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A heterozygous mutation in the ALPL gene in an adolescent with Chiari malformation type I accompanied by scoliosis, tethered cord and diastematomyelia. [PDF]
Acta Neurol Belg, 2023 Xu L, Ma C, Shen S, Duan H, Li X.
europepmc +1 more source
Clinical and genetic characteristics and follow-up of 12 children with hypophosphatasia
中国当代儿科杂志ObjectiveTo summarize the clinical and genetic characteristics and follow-up data of children with hypophosphatasia (HPP).MethodsA retrospective analysis was conducted of 12 children with HPP who were treated at Shanghai Children's Medical Center between
WU Shuo +8 more
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The Global ALPL gene variant classification project: Dedicated to deciphering variants.
BACKGROUND: Hypophosphatasia (HPP) is an inherited multisystem disorder predominantly affecting the mineralization of bones and teeth. HPP is caused by pathogenic variants in ALPL, which encodes tissue non-specific alkaline phosphatase (TNSALP). Variants
Barbazza, Francesca +20 more
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Journal of Osteoporosis, 2015 We aimed to identify bone related markers in the peripheral blood of osteoporotic (OP) patients that pointed toward molecular mechanisms underlying late postmenopausal bone loss. Whole blood from 22 late postmenopausal OP patients and 26 healthy subjects
Elena V. Tchetina +3 more
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Lack of acellular cementum on Alpl−/− molar root surfaces.
, 2013 Backcattered SEM was employed to explore the cervical root surface (white boxes) in (A) Alpl+/+ control and (B) Alpl−/− first molars. At higher magnification, the acellular cementum layer (white arrows) in the (C) control molar can be distinguished by ...
Francisco H. Nociti Jr. (320573) +9 more
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