鱼鳞病-少毛症-硬化性胆管炎综合征中无肝脏疾病迹象的新型CLDN1突变。 - Suppr | 超能文献

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Novel CLDN1 mutation in ichthyosis-hypotrichosis-sclerosing cholangitis syndrome without signs of liver disease.鱼鳞病-少毛症-硬化性胆管炎综合征中无肝脏疾病迹象的新型CLDN1突变。

Br J Dermatol. 2018 Mar;178(3):e202-e203. doi: 10.1111/bjd.15996. Epub 2018 Jan 23.

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Novel mutation in the CLDN1 gene in a Turkish family with neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome.一个患有新生儿鱼鳞病硬化性胆管炎（NISCH）综合征的土耳其家族中CLDN1基因的新型突变。

Br J Dermatol. 2014 Apr;170(4):976-8. doi: 10.1111/bjd.12724.

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Gene-Targeted Next-Generation Sequencing Identifies a Novel CLDN1 Mutation in a Consanguineous Family With NISCH Syndrome.基因靶向新一代测序在一个患有尼施综合征的近亲家庭中鉴定出一种新型CLDN1突变。

Am J Gastroenterol. 2017 Feb;112(2):396-398. doi: 10.1038/ajg.2016.533.

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Evaluation of neurodevelopmental symptoms in 10 cases of neonatal ichthyosis and sclerosing cholangitis syndrome.10例新生儿鱼鳞病和硬化性胆管炎综合征的神经发育症状评估

Pediatr Dermatol. 2022 Jul;39(4):590-593. doi: 10.1111/pde.14976. Epub 2022 Mar 18.

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CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan Jews.CLDN1 Arg81His 创始变体导致摩洛哥犹太人的鱼鳞病、白细胞空泡、脱发和硬化性胆管炎（ILVASC）综合征。

Clin Genet. 2024 Jan;105(1):44-51. doi: 10.1111/cge.14432. Epub 2023 Oct 9.

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[NISCH syndrome, a rare cause of neonatal cholestasis: A case report].[NISCH综合征，新生儿胆汁淤积的罕见病因：一例报告]

Arch Pediatr. 2017 Dec;24(12):1228-1234. doi: 10.1016/j.arcped.2017.09.016. Epub 2017 Nov 13.

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NISCH syndrome: An extremely rare cause of neonatal cholestasis.NISCH综合征：新生儿胆汁淤积症极其罕见的病因。

J Hepatol. 2020 Nov;73(5):1257-1258. doi: 10.1016/j.jhep.2020.07.006. Epub 2020 Aug 27.

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Bile duct paucity is part of the neonatal ichthyosis-sclerosing cholangitis phenotype.胆管发育不良是新生儿鱼鳞病-硬化性胆管炎表型的一部分。

Br J Dermatol. 2010 Jul;163(1):205-7. doi: 10.1111/j.1365-2133.2010.09794.x.

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Novel CLDN1 Deletion Associated with Ichthyosis, Sclerosing Cholangitis and Acquired Alopecia.与鱼鳞病、硬化性胆管炎和获得性脱发相关的新型CLDN1缺失

Acta Derm Venereol. 2020 Jun 11;100(13):adv00173. doi: 10.2340/00015555-3522.

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Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis.角蛋白化障碍的分子遗传学——关于鱼鳞病的新认识。

Acta Derm Venereol. 2020 Mar 25;100(7):adv00095. doi: 10.2340/00015555-3431.

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Multiscale modelling of claudin-based assemblies: A magnifying glass for novel structures of biological interfaces.基于紧密连接蛋白的组装体的多尺度建模：生物界面新结构的放大镜

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Gene Set Enrichment Analysis Detected Immune Cell-Related Pathways Associated with Primary Sclerosing Cholangitis.基因集富集分析检测到原发性硬化性胆管炎相关的免疫细胞相关途径。

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Novel CLDN1 Deletion Associated with Ichthyosis, Sclerosing Cholangitis and Acquired Alopecia.