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CErebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma (CEDNIK) Syndrome with Brain Stem Malformation.

作者信息

Karunakaran Sudhakar, Thomas Bejoy, Menon Ramshekhar, Nair Muralidharan, Nair Sruthi S, Sundaram Soumya

机构信息

Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India.

Department of Imaging Sciences and Intervention Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India.

出版信息

Ann Indian Acad Neurol. 2021 Nov-Dec;24(6):979-981. doi: 10.4103/aian.AIAN_673_20. Epub 2020 Oct 7.

DOI:10.4103/aian.AIAN_673_20
PMID:35359556
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8965947/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8047/8965947/c51c86fdf4d4/AIAN-24-979-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8047/8965947/2d66fea1a8f4/AIAN-24-979-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8047/8965947/c51c86fdf4d4/AIAN-24-979-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8047/8965947/2d66fea1a8f4/AIAN-24-979-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8047/8965947/c51c86fdf4d4/AIAN-24-979-g002.jpg

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本文引用的文献

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CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the Literature.CEDNIK：另一例患者的表型和分子特征及文献综述
Child Neurol Open. 2017 Oct 8;4:2329048X17733214. doi: 10.1177/2329048X17733214. eCollection 2017 Jan-Dec.
2
Molecular pathogenesis of peripheral neuropathies: insights from Drosophila models.周围神经病变的分子发病机制：来自果蝇模型的见解
Curr Opin Genet Dev. 2017 Jun;44:61-73. doi: 10.1016/j.gde.2017.01.011. Epub 2017 Feb 16.
3
Establishment of Two Mouse Models for CEDNIK Syndrome Reveals the Pivotal Role of SNAP29 in Epidermal Differentiation.
建立两种先天性皮肤松弛症伴指（趾）甲营养不良综合征（CEDNIK）小鼠模型揭示了SNAP29在表皮分化中的关键作用。
J Invest Dermatol. 2016 Mar;136(3):672-679. doi: 10.1016/j.jid.2015.12.020. Epub 2015 Dec 30.
4
Genes and brain malformations associated with abnormal neuron positioning.与异常神经元定位相关的基因和脑畸形
Mol Brain. 2015 Nov 5;8(1):72. doi: 10.1186/s13041-015-0164-4.
5
Polymicrogyria: pathology, fetal origins and mechanisms.多微小脑回畸形：病理学、胎儿起源与机制。
Acta Neuropathol Commun. 2014 Jul 22;2:80. doi: 10.1186/s40478-014-0080-3.
6
CEDNIK syndrome results from loss-of-function mutations in SNAP29.CEDNIK 综合征是由 SNAP29 的功能丧失性突变引起的。
Br J Dermatol. 2011 Mar;164(3):610-6. doi: 10.1111/j.1365-2133.2010.10133.x. Epub 2011 Feb 17.
7
Loss of SNAP29 impairs endocytic recycling and cell motility.SNAP29 的缺失会损害内吞体循环和细胞迁移能力。
PLoS One. 2010 Mar 18;5(3):e9759. doi: 10.1371/journal.pone.0009759.
8
A developmental and genetic classification for midbrain-hindbrain malformations.中脑-后脑畸形的发育和遗传分类。
Brain. 2009 Dec;132(Pt 12):3199-230. doi: 10.1093/brain/awp247.
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A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma.编码参与细胞内运输的SNARE蛋白的SNAP29发生突变，会导致一种新型神经皮肤综合征，其特征为脑发育不全、神经病变、鱼鳞病和掌跖角化病。
Am J Hum Genet. 2005 Aug;77(2):242-51. doi: 10.1086/432556. Epub 2005 Jun 20.
10
SNAP-29-mediated modulation of synaptic transmission in cultured hippocampal neurons.SNAP-29介导的培养海马神经元突触传递调节
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