Study of the Wolfram syndrome gene (WFS1) in Spanish patients with diabetes mellitus and deafness

被引:0
|
作者
Domenech, E [1 ]
Zaera, MG [1 ]
Nunes, V [1 ]
机构
[1] Hosp Llobregat, Canc Res Inst, Barcelona, Spain
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页码:286 / 287
页数:2
相关论文
共 50 条
  • [41] Wolfram Syndrome in the Japanese Population; Molecular Analysis of WFS1 Gene and Characterization of Clinical Features
    Matsunaga, Kimie
    Tanabe, Katsuya
    Inoue, Hiroshi
    Okuya, Shigeru
    Ohta, Yasuharu
    Akiyama, Masaru
    Taguchi, Akihiko
    Kora, Yukari
    Okayama, Naoko
    Yamada, Yuichiro
    Wada, Yasuhiko
    Amemiya, Shin
    Sugihara, Shigetaka
    Nakao, Yuzo
    Oka, Yoshitomo
    Tanizawa, Yukio
    PLOS ONE, 2014, 9 (09):
  • [42] Identification of a pathogenic founder variant in the WFS1 gene that causes Wolfram syndrome in the Druze population
    Halabi, Inbal
    Tenenbaum-Rakover, Yardena
    Sagi-Dain, Lena
    Koren, Ilana
    FRONTIERS IN PEDIATRICS, 2025, 13
  • [43] Wolfram syndrome in the Japanese population: molecular analysis of the WFS1 gene and characterisation of clinical features
    Tanizawa, Y.
    Matsunaga, K.
    Tanabe, K.
    DIABETOLOGIA, 2014, 57 : S157 - S157
  • [44] Compound heterozygous mutations in WFS1 cause atypical Wolfram syndrome
    Pan, Yun-Di
    Fu, Jun-Ling
    Xiao, Xin-Hua
    CHINESE MEDICAL JOURNAL, 2019, 132 (20) : 2508 - 2509
  • [45] Functional analysis of the Wolfram syndrome gene WFS1 using yeast-2-hybrid
    Minton, J
    Fenton, S
    Latif, F
    Barrett, T
    DIABETES, 2003, 52 : A253 - A253
  • [46] A novel variant of the WFS1 gene with dominant inheritance causing Wolfram-like syndrome
    Stanik, Juraj
    Skopkova, Martina
    Varga, Lukas
    Masindova, Ivica
    Jancova, Emilia
    Profant, Milan
    Gasperikova, Daniela
    HORMONE RESEARCH IN PAEDIATRICS, 2019, 91 : 401 - 401
  • [47] Novel WFS1 Variants in Two Moroccan Families with Wolfram Syndrome
    Bouhouche, Ahmed
    Sefiani, Sara
    Charoute, Hicham
    Houyam, Tibar
    Bouslam, Naima
    El Yousfi, Fatima-Zahra
    Bnouhana, Wadi
    Benomar, Ali
    Ouadghiri, Fatima-Zahra
    Regragui, Wafaa
    GENETIC TESTING AND MOLECULAR BIOMARKERS, 2024, 28 (06) : 257 - 262
  • [48] Effect of 4-phenylbutyrate and valproate on dominant mutations of WFS1 gene in Wolfram syndrome
    Batjargal, K.
    Tajima, T.
    Jimbo, E. F.
    Yamagata, T.
    JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 2020, 43 (09) : 1317 - 1325
  • [49] Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome
    Ren, Ziyu
    Yi, Jixiu
    Zhong, Min
    Wang, Yunting
    Liu, Qicong
    Wang, Xuan
    Liu, Dongfang
    Ren, Wei
    BMC ENDOCRINE DISORDERS, 2021, 21 (01)
  • [50] Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome
    Ziyu Ren
    Jixiu Yi
    Min Zhong
    Yunting Wang
    Qicong Liu
    Xuan Wang
    Dongfang Liu
    Wei Ren
    BMC Endocrine Disorders, 21