Portal Hypertension Due to TULP3-related Ciliopathy: First Report From the Asia-Pacific Region.
作者信息
Kumar Pramod, Maidur Rohit, Varakanahalli Shiva K, Krishna Pradeep, Sandhya V
机构信息
Hepatologist and Liver Transplant Physician, Gleneagles BGS Hospital, Bengaluru, Karnataka, India.
Department of Medical Gastroenterology, S.D.M. College of Medical Sciences and Hospital, Dharwad, Karnataka, India.
出版信息
J Clin Exp Hepatol. 2024 Nov-Dec;14(6):101478. doi: 10.1016/j.jceh.2024.101478. Epub 2024 Jul 4.
Abstract
摘要
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本文引用的文献
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Am J Hum Genet. 2022 May 5;109(5):928-943. doi: 10.1016/j.ajhg.2022.03.015. Epub 2022 Apr 8.
2
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.在 304 名常染色体隐性多囊肾病患者和 PKHD1 基因突变体中，对基因型-表型相关性进行精细化研究。
Kidney Int. 2021 Sep;100(3):650-659. doi: 10.1016/j.kint.2021.04.019. Epub 2021 Apr 30.
3
The Shh/Gli signaling cascade regulates myofibroblastic activation of lung-resident mesenchymal stem cells via the modulation of Wnt10a expression during pulmonary fibrogenesis.Shh/Gli 信号级联通过调节肺纤维化过程中 Wnt10a 的表达来调控肺驻留间充质干细胞的肌成纤维细胞激活。
Lab Invest. 2020 Mar;100(3):363-377. doi: 10.1038/s41374-019-0316-8. Epub 2019 Sep 20.
4
Tulp3 Is a Ciliary Trafficking Gene that Regulates Polycystic Kidney Disease.Tulp3 是一个纤毛运输基因，可调节多囊肾病。
Curr Biol. 2019 Mar 4;29(5):803-812.e5. doi: 10.1016/j.cub.2019.01.054. Epub 2019 Feb 21.
5
The hedgehog system machinery controls transforming growth factor-β-dependent myofibroblastic differentiation in humans: involvement in idiopathic pulmonary fibrosis.刺猬系统机制控制转化生长因子-β依赖性成肌纤维细胞分化在人类：特发性肺纤维化中的作用。
Am J Pathol. 2012 Dec;181(6):2126-37. doi: 10.1016/j.ajpath.2012.08.019. Epub 2012 Sep 29.
6
Ciliopathies.纤毛病
N Engl J Med. 2011 Apr 21;364(16):1533-43. doi: 10.1056/NEJMra1010172.
7
TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia.TULP3 将 IFT-A 复合物和膜磷酯酰肌醇联系起来，促进 G 蛋白偶联受体向初级纤毛内的运输。
Genes Dev. 2010 Oct 1;24(19):2180-93. doi: 10.1101/gad.1966210.
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