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and Mutations in a Child Presenting With Incomplete Alagille Syndrome.

作者信息

Almes Marion, Gardin Antoine, Davit-Spraul Anne, Bouligand Jérôme, Habes Dalila, Jacquemin Emmanuel

机构信息

Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER.

Inserm U1193, Hepatinov, University Paris-Saclay, Orsay, France.

出版信息

JPGN Rep. 2023 Jul 17;4(3):e338. doi: 10.1097/PG9.0000000000000338. eCollection 2023 Aug.

DOI:10.1097/PG9.0000000000000338
PMID:37600608
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10435021/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0bd/10435021/e3cea0a89d6b/pg9-4-e338-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0bd/10435021/e3cea0a89d6b/pg9-4-e338-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0bd/10435021/e3cea0a89d6b/pg9-4-e338-g001.jpg

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and Mutations in a Child Presenting With Incomplete Alagille Syndrome.一名患有不完全性阿拉吉耶综合征儿童的基因突变
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本文引用的文献

1
Thrombospondin 1 and 2 along with PEDF inhibit angiogenesis and promote lymphangiogenesis in intrahepatic cholangiocarcinoma.血小板反应蛋白 1 和 2 以及 PEDF 抑制肝内胆管癌的血管生成并促进淋巴管生成。
J Hepatol. 2021 Dec;75(6):1377-1386. doi: 10.1016/j.jhep.2021.07.016. Epub 2021 Jul 28.
2
Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome.联合基因分析可为 Alagille 综合征和不典型 Alagille 综合征患者提供高效的诊断收益。
Acta Paediatr. 2017 Nov;106(11):1817-1824. doi: 10.1111/apa.13981. Epub 2017 Aug 2.
3
Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome.
是阿拉吉耶综合征中肝脏疾病严重程度的一个潜在修饰因子。
Cell Mol Gastroenterol Hepatol. 2016 May 26;2(5):663-675.e2. doi: 10.1016/j.jcmgh.2016.05.013. eCollection 2016 Sep.
4
Association of genetic variants with coronary artery disease and ischemic stroke in a longitudinal population-based genetic epidemiological study.基于人群的纵向遗传流行病学研究中基因变异与冠状动脉疾病和缺血性中风的关联
Biomed Rep. 2015 May;3(3):413-419. doi: 10.3892/br.2015.440. Epub 2015 Mar 2.
5
Impact of thrombospondin-2 gene variations on the risk of thoracic aortic dissection in a Chinese Han population.血小板反应蛋白-2基因变异对中国汉族人群胸主动脉夹层风险的影响。
Int J Clin Exp Med. 2014 Dec 15;7(12):5796-801. eCollection 2014.
6
JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome.JAG1 突变大约存在于仅出现 Alagille 综合征一两个临床特征的患者的三分之一中。
Clin Genet. 2012 Jul;82(1):33-40. doi: 10.1111/j.1399-0004.2011.01749.x. Epub 2011 Jul 31.
7
Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases.综合征性小叶间胆管稀少（阿拉吉耶综合征或动脉性肝发育不良）：80例病例回顾
J Pediatr. 1987 Feb;110(2):195-200. doi: 10.1016/s0022-3476(87)80153-1.