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Hedgehog signaling and human disease.
Annual Review of Genomics and Human Genetics ( IF 7.7 ) Pub Date : 2002-07-27 , DOI: 10.1146/annurev.genom.3.022502.103031
Allen E Bale 1
Affiliation  

Developmental pathways first elucidated by genetic studies in the fruit fly Drosophila melanogaster are conserved in vertebrates. The hedgehog pathway, first discovered because of its involvement in early Drosophila development, plays a key role in human embryogenesis. Dissruption of this pathway has been associated with congenital anomalies of the central nervous system, axial skeleton, limbs, and occasionally other organs. Many developmental genes continue to play an important role in regulation of cell growth and differentiation after embryogenesis, and mutations that lead to activation of the hedgehog pathway result in skin cancer and other malignancies in children and adults.

中文翻译:

刺猬信号和人类疾病。

在脊椎动物中,果蝇果蝇的遗传研究首次阐明了其发育途径。由于其参与果蝇的早期发育而首次发现的刺猬通路在人类胚胎发生中起关键作用。该途径的中断与中枢神经系统,轴骨骼,四肢以及其他器官的先天性异常有关。许多发育基因在胚胎发生后的细胞生长和分化调控中继续发挥重要作用,导致刺猬信号通路活化的突变会导致儿童和成人的皮肤癌和其他恶性肿瘤。
更新日期:2019-11-01
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