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Expanded phenotypic spectrum of JAG1-associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in JAG1.

作者信息

Li Dong, Sheppard Sarah E, Peroutka Christina, Barnes Caitlin, Reid Janet R, Smith Christopher L, Dori Yoav, Hakonarson Hakon

机构信息

Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Division of Genetics, University of Virginia, Charlottesville, Virginia, USA.

出版信息

Clin Genet. 2021 May;99(5):742-743. doi: 10.1111/cge.13915. Epub 2021 Jan 12.

DOI:10.1111/cge.13915
PMID:33433009
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8666150/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/abec/8666150/aeff48c970ed/nihms-1759053-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/abec/8666150/aeff48c970ed/nihms-1759053-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/abec/8666150/aeff48c970ed/nihms-1759053-f0001.jpg

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本文引用的文献

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2
Notch1 functions as a negative regulator of lymphatic endothelial cell differentiation in the venous endothelium.Notch1 在静脉内皮中作为淋巴管内皮细胞分化的负调控因子发挥作用。
Development. 2013 Jun;140(11):2365-76. doi: 10.1242/dev.083865. Epub 2013 Apr 24.
3
Notch restricts lymphatic vessel sprouting induced by vascular endothelial growth factor.
PIK3CA基因的致病性变异与卡波西样淋巴管瘤病、泛发性淋巴管异常和中央传导性淋巴管异常的临床表型相关。
Pediatr Blood Cancer. 2023 May 17:e30419. doi: 10.1002/pbc.30419.
4
Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly.中央淋巴导水管异常患者队列的遗传学病因和基因型表型相关性。
Eur J Hum Genet. 2022 Sep;30(9):1022-1028. doi: 10.1038/s41431-022-01123-9. Epub 2022 May 24.
5
Chylous cyst-venous shunt for the management of central conducting lymphatic anomaly.乳糜囊肿-静脉分流术治疗中央传导性淋巴管异常
J Vasc Surg Cases Innov Tech. 2021 Feb 26;7(2):235-238. doi: 10.1016/j.jvscit.2021.02.005. eCollection 2021 Jun.
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Blood. 2011 Jul 28;118(4):1154-62. doi: 10.1182/blood-2010-11-317800. Epub 2011 May 12.
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