纤毛在纤毛病发展中的功能和作用

IF 0.2 Q4 PEDIATRICS

Journal of pediatric neurology Pub Date : 2022-08-23 DOI:10.1055/s-0042-1759533

Alessio Mancuso, I. Ceravolo, C. Cuppari, A. Sallemi, M. Fusco, A. Ceravolo, G. Farello, G. Iapadre, Luca Zagaroli, G. Nanni, Giovanni Conti

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引用次数: 0

摘要

“纤毛病”是一组由纤毛畸形或功能障碍所描述的遗传性疾病。纤毛蛋白的紊乱导致一系列的表型，从器官特异性(如肾、肝和胰腺的囊性疾病、神经管缺陷、轴后多指畸形、倒位和视网膜变性)到大致的多征性(如Bardet-Biedl综合征和Joubert综合征)。纤毛功能障碍背后的机制，以达成新的治疗策略。

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The Function and Role of the Cilium in the Development of Ciliopathies

Abstract “Ciliopathies” are a group of genetic disorders described by the malformation or dysfunction of cilia. The disorders of ciliary proteins lead to a range of phenotype from organ-specific (e.g., cystic disease of the kidney, liver, and pancreas, neural tube defects, postaxial polydactyly, situs inversus, and retinal degeneration) to sketchily pleiotropic (e.g., Bardet-Biedl syndrome and Joubert syndrome). The mechanism below the disfunction of cilia to reach new therapeutic strategies.

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来源期刊

Journal of pediatric neurology PEDIATRICS-

CiteScore

0.40

自引率

0.00%

发文量

期刊介绍： The Journal of Pediatric Neurology is a multidisciplinary peer-reviewed medical journal publishing articles in the fields of childhood neurology, pediatric neurosurgery, pediatric neuroradiology, child psychiatry and pediatric neuroscience. The Journal of Pediatric Neurology, the official journal of the Society of Pediatric Science of the Yüzüncü Yil University in Turkiye, encourages submissions from authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, rapid communications, case reports, neuroimage of the month, letters to the editor and book reviews.