Case Report: Novel Compound-Heterozygous Variants of SKIV2L Gene that Cause Trichohepatoenteric Syndrome 2

Autor: Qiao Zhang, Xia Qian, Jianli Zhou, Lin Han, Shaoming Zhou, Zhaoxia Wang

Publikováno v: Frontiers in Genetics, Vol 12 (2021)

Background: Trichohepatoenteric syndrome (THES) is a rare disease that mainly causes intractable diarrhea. It is classified into THES1 and THES2, which are associated with the tetratricopeptide repeat domain 37 (TTC37) gene and Ski2-like RNA helicase

Externí odkaz: https://doaj.org/article/39420249be2a48b6a9a9bd925456bf0f

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HIF1A as a major vascular endothelial growth factor regulator: Do its polymorphisms have an association with age-related macular degeneration?

Autor: Okur, Volkan., Çetin, Ozan, Çetin, Ebru, Tepeli, E., Bulgu, Y., Yildirim, C.

Background: To investigate the association between age-related macular degeneration (AMD) and the polymorphisms of HIF1A, a major vascular epithelial growth factor regulator under hypoxic conditions. The associations of AMD and polymorphisms of genes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4539bcac27f8c9a138d367b99db7b52f
https://hdl.handle.net/11499/10294

A Case of Mild Trichohepatoenteric Syndrome With New Variant Mutation in SKIV2L Gene: Case Report.

Autor: Albar RF; Pediatrics, King Abdulaziz Medical City, Jeddah, SAU., Alghamdi MS; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, SAU., Alsulimani EF; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, SAU., Almasrahi AM; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, SAU., Alsalmi KA; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, SAU.

Publikováno v: Cureus [Cureus] 2021 Nov 09; Vol. 13 (11), pp. e19404. Date of Electronic Publication: 2021 Nov 09 (Print Publication: 2021).