Skip to Content

6 Results Found

  • Case Report
  • Open Access
8 Citations
3,624 Views
5 Pages

A New Variant Mutation in SKIV2L Gene in Case of Trichohepatoenteric Syndrome

  • Ziad A. Taher,
  • Saeed Alzahrani,
  • Abdullah Alsaghir,
  • Faris Nouh and
  • Mesbah Alshumrani

26 October 2020

Trichohepatoenteric syndrome is an autosomal recessive genetic disease with an estimated prevalence of 1:100,000. The mutation of the disease is placed either in SKIV2L or TTC37 genes. The onset of presentation is variable, but symptoms usually start...

  • Review
  • Open Access
10 Citations
7,288 Views
22 Pages

30 August 2019

At the central region of the mammalian major histocompatibility complex (MHC) is a complement gene cluster that codes for constituents of complement C3 convertases (C2, factor B and C4). Complement activation drives the humoral effector functions for...

(This article belongs to the Special Issue Major Histocompatibility Complex (MHC) in Health and Disease)
  • Article
  • Open Access
15 Citations
5,183 Views
13 Pages

A Genome-Wide Association Study Identified Novel Genetic Susceptibility Loci for Oral Cancer in Taiwan

  • Da-Tian Bau,
  • Ting-Yuan Liu,
  • Chia-Wen Tsai,
  • Wen-Shin Chang and ,
  • Jian Gu,
  • Jai-Sing Yang,
  • Liang-Chun Shih and
  • Fuu-Jen Tsai
  • + 3 authors+ 0 author

1 February 2023

Taiwan has the highest incidence rate of oral cancer in the world. Although oral cancer is mostly an environmentally induced cancer, genetic factors also play an important role in its etiology. Genome-wide association studies (GWAS) have identified n...

(This article belongs to the Section Molecular Oncology)
  • Article
  • Open Access
14 Citations
3,791 Views
9 Pages

Association between Polygenic Risk Score and One-Year Outcomes Following As-Needed Aflibercept Therapy for Exudative Age-Related Macular Degeneration

  • Taiyo Shijo,
  • Yoichi Sakurada,
  • Seigo Yoneyama,
  • Wataru Kikushima and ,
  • Atsushi Sugiyama,
  • Mio Matsubara,
  • Yoshiko Fukuda,
  • Fumihiko Mabuchi and
  • Kenji Kashiwagi
  • + 4 authors+ 0 author

20 September 2020

We investigated whether polygenic risk score (PRS) was associated with one-year outcome of as-needed aflibercept therapy for exudative age-related macular degeneration (AMD), including AMD (n = 129) and polypoidal choroidal vasculopathy (n = 132). A...

(This article belongs to the Special Issue Pharmacotherapy for Macular Diseases)
  • Article
  • Open Access
4 Citations
1,617 Views
10 Pages

Genetic Factors Associated with Intraocular Inflammation After Brolucizumab Administration in Patients with Exudative Age-Related Macular Degeneration

  • Seigo Yoneyama,
  • Yoichi Sakurada,
  • Taiyo Shijo,
  • Yoshiko Fukuda and ,
  • Yumi Kotoda,
  • Wataru Kikushima,
  • Fumihiko Mabuchi and
  • Kenji Kashiwagi
  • + 3 authors+ 0 author

1 July 2025

Purpose: We aimed to investigate whether genetic variants susceptible to age-related macular degeneration (AMD) are associated with intraocular inflammation after brolucizumab administration in eyes that have exudative AMD. Methods: A total of 206 ey...

(This article belongs to the Special Issue 15th Anniversary of Genes: Feature Papers in the “Molecular Genetics and Genomics” Section)
  • Article
  • Open Access
3 Citations
3,180 Views
16 Pages

22 September 2022

Infection of cattle with bovine herpesvirus type 1 (BHV−1) can lead to upper respiratory tract disease, conjunctivitis, or genital disease and cause serious economic losses to the cattle industry worldwide. The role of long noncoding RNAs in BH...

(This article belongs to the Special Issue Viral-Host Cell Interactions of Animal Viruses)