Uncoupling fibroblast growth factor receptor 2 ligand binding specificity leads to Apert syndrome-like phenotypes.
作者信息
Yu K, Ornitz D M
机构信息
Department of Molecular Biology and Pharmacology, Washington University Medical School, Campus Box 8103, 660 South Euclid Avenue, St. Louis, MO 63110, USA.
出版信息
Proc Natl Acad Sci U S A. 2001 Mar 27;98(7):3641-3. doi: 10.1073/pnas.081082498.
Abstract
摘要
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Uncoupling fibroblast growth factor receptor 2 ligand binding specificity leads to Apert syndrome-like phenotypes.成纤维细胞生长因子受体2配体结合特异性的解偶联导致类Apert综合征表型。
Proc Natl Acad Sci U S A. 2001 Mar 27;98(7):3641-3. doi: 10.1073/pnas.081082498.
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本文引用的文献
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Fibroblast growth factors.成纤维细胞生长因子
Genome Biol. 2001;2(3):REVIEWS3005. doi: 10.1186/gb-2001-2-3-reviews3005. Epub 2001 Mar 9.
2
A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes.FgfR2-IIIc半合子中的剪接开关和功能获得性突变导致类似Apert/Pfeiffer综合征的表型。
Proc Natl Acad Sci U S A. 2001 Mar 27;98(7):3855-60. doi: 10.1073/pnas.071586898.
3
Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.Apert综合征中成纤维细胞生长因子受体2配体结合特异性的丧失。
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Fgf8 signalling from the AER is essential for normal limb development.来自顶外胚层嵴（AER）的Fgf8信号对于正常肢体发育至关重要。
Nat Genet. 2000 Dec;26(4):460-3. doi: 10.1038/82609.
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Fgf8 is required for outgrowth and patterning of the limbs.Fgf8对于四肢的生长和模式形成是必需的。
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