Abnormal sterol metabolism in holoprosencephaly.
Abnormal sterol metabolism in holoprosencephaly.
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DOI：
10.1002/ajmg.c.30243
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发表时间：
2010-02-15
影响因子：
3.1
通讯作者：
Muenke, Maximilian
中科院分区：
文献类型：
--
作者：
Haas, Dorothea;Muenke, Maximilian
关键词：
无前脑畸形(HPE)是人类发育中最常见的前脑结构畸形。HPE的表型千差万别，病因也是不同的。在各种可诱导HPE的胚胎毒素中，抑制剂和其他胆固醇生物合成扰动已被证明是重要的因素，最可能的原因是胆固醇在Sonic Hedgehog信号级联中是必需的。怀孕期间母亲胆固醇水平降低会增加早产的风险，但与先天性畸形无关。然而，如果胎儿受到先天性内源性胆固醇合成错误的影响，母体胆固醇浓度的降低和胎盘上胆固醇的运输会加剧表型表达。在怀孕早期接触脂类他汀类药物可能与结构性中枢神经系统缺陷的实质性风险有关。
Holoprosencephaly (HPE) is the most common structural malformation of the developing forebrain in humans. The HPE phenotype is extremely variable and the etiology is heterogeneous. Among a variety of embryological toxins that can induce HPE, inhibitors, and other pertubations of cholesterol biosynthesis have been shown to be important factors, most likely because cholesterol is required in the Sonic hedgehog signaling cascade. Decreased levels of maternal cholesterol during pregnancy increase the risk for preterm delivery, but they are not associated with congenital malformations. However, if the fetus is affected by an inborn error of endogenous cholesterol synthesis, a reduction of maternal cholesterol concentration and cholesterol transport over the placenta aggravates the phenotypic expression. Exposure to lipophilic statins in early pregnancy may be associated with a substantial risk for structural CNS defects.
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影响因子：
3.5
作者：
Lindegaard ML;Wassif CA;Vaisman B;Amar M;Wasmuth EV;Shamburek R;Nielsen LB;Remaley AT;Porter FD
通讯作者：
Porter FD
DOI：
10.1073/pnas.95.14.8181
发表时间：
1998-07-07
影响因子：
11.1
作者：
Fitzky, BU;Witsch-Baumgartner, M;Moebius, FF
通讯作者：
Moebius, FF
影响因子：
56.9
作者：
Porter, JA;Young, KE;Beachy, PA
通讯作者：
Beachy, PA
影响因子：
3.5
作者：
Roessler, E;Ermilov, AN;Muenke, M
通讯作者：
Muenke, M
影响因子：
30.8
作者：
Brown, SA;Warburton, D;Muenke, M
通讯作者：
Muenke, M