Hypophosphatasia now draws more attention of both clinicians and researchers: a commentary on Prevalence of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation on heterozygous carriers.

Ozono K; Michigami T

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Hypophosphatasia now draws more attention of both clinicians and researchers: a commentary on Prevalence of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation on heterozygous carriers.

机译：低磷血症现在引起临床医生和研究人员的更多关注：关于c患病率的评论。 ALPL中的1559delT，这是一种常见突变，在日语中会导致围生期（致命）形式的低磷状态，并且该突变对杂合子携带者有影响。

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Hypophosphatsia is a skeletal disease due to an inborn error of metabolism characterized by deficient activity of the tissue-nonspecific alkaline phosphatase. Alkaline phosphatase (ALP) is a membrane-bound metalloenzyme that consists of a group of isoenzymes encoded by four different gene loci: tissue-nonspecific, intestinal, placental and germ-cell ALP. Tissue-nonspecific alkaline phosphatase is expressed in almost all cells and three organs, liver, bone and kidney, have high activity of ALP. Thus, tissue-nonspecific alkaline phosphatase is also called ALP liver/bone/kidney (ALPL). The mouse counter part is called Akp2. Tissue-nonspecific alkaline phosphatase hydrolyzes inorganic pyrophosphate, an inhibitor of mineralization, and increases the local concentration of inorganic phosphate. Therefore, hypomineralization of skeleton and rachitic change of bone is associated with hypophosphatasia.

机译：低磷血症是一种骨骼疾病，由于先天性代谢错误而引起，其特征在于组织非特异性碱性磷酸酶的活性不足。碱性磷酸酶（ALP）是一种膜结合的金属酶，由一组由四个不同基因位点编码的同工酶组成：组织非特异性，肠道，胎盘和生殖细胞ALP。组织非特异性碱性磷酸酶几乎在所有细胞和肝，骨，肾三个器官中都有表达，具有很高的ALP活性。因此，组织非特异性碱性磷酸酶也称为ALP肝/骨/肾（ALPL）。鼠标计数器部分称为Akp2。组织非特异性碱性磷酸酶水解无机焦磷酸盐（一种矿化抑制剂），并增加了无机磷酸盐的局部浓度。因此，骨骼的矿物质不足和骨骼的横纹肌改变与低磷症有关。

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《Journal of human genetics》 |2011年第3期|共3页
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Ozono K; Michigami T;
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1. Hypophosphatasia now draws more attention of both clinicians and researchers: a commentary on Prevalence of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation on heterozygous carriers. [J] . Ozono K, Michigami T Journal of human genetics . 2011,第3期

机译：低磷血症现在引起临床医生和研究人员的更多关注：关于c患病率的评论。 ALPL中的1559delT，这是一种常见突变，在日语中会导致围生期（致命）形式的低磷状态，并且该突变对杂合子携带者有影响。
2. A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene. [J] . Brun-Heath I, Chabrol E, Fox M, Clinical Genetics: An International Journal of Genetics in Medicine . 2008,第3期

机译：一例致命的低磷血症为围产期低磷血症的良性形式和ALPL基因的表达提供了新的见解。
3. Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia [J] . ChangK.-C., LinP.-H., SuY.-N., Journal of bone and mineral metabolism . 2012,第1期

机译：新型致死性组织非特异性碱性磷酸酶（TNAP）基因突变引起致死的围产期低磷酸血症
4. Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: a case report [O] . Fengdan Yu, Junyi Wang, Xiaojing Xu 2019

机译：新型复合杂合突变引起的致死性围产期低磷血症：一例报告
5. Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers [O] . Atsushi Watanabe, Tatsuki Karasugi, Hideaki Sawai, 2010

机译：Alpl中C.1559delt的患病率，常见突变导致日本次磷（致死）的次磷酸次次磷酸盐和杂合载体的影响

Hypophosphatasia now draws more attention of both clinicians and researchers: a commentary on Prevalence of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation on heterozygous carriers.

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