The identification of a novel mutation (p.I223fs) in WRN associated with Werner syndrome

被引：0
|
作者：
Jushuang Wu
Shuyao Pan
Wei Lin
Junping Wen
Rongmei Lu
Gang Chen
机构：
[1] Fujian Academy of Medical Sciences,Department of Endocrinology
[2] Shengli Clinical Medical College of Fujian Medical University,undefined
[3] Fujian Provincial Hospital,undefined
来源：
Endocrine | 2024年 / 84卷
关键词：
Werner syndrome; gene; Frameshift mutation; Diabetes mellitus; Early-onset aging;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：92 / 96
页数：4
相关论文
共 50 条
  • [1] The identification of a novel mutation (p.I223fs) in WRN associated with Werner syndrome
    Wu, Jushuang
    Pan, Shuyao
    Lin, Wei
    Wen, Junping
    Lu, Rongmei
    Chen, Gang
    ENDOCRINE, 2024, 84 (01) : 92 - 96
  • [2] A novel mutation of the WRN gene in a Chinese patient with Werner syndrome
    Zhao, N.
    Hao, F.
    Qu, T.
    Zuo, Y. -G.
    Wang, B-X.
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2008, 33 (03) : 278 - 281
  • [3] Uncommon cause of cirrhosis—A case of Werner syndrome with a novel WRN mutation
    Amalnath S.D.
    Sargolzaeiaval F.
    Oshima J.
    Baskar D.
    Indian Journal of Gastroenterology, 2017, 36 (4) : 323 - 325
  • [4] A novel compound heterozygous mutation in Werner syndrome results in WRN transcript decay
    Müller, FB
    Tsianakas, A
    Kuwert, C
    Korge, BP
    Hunzelmann, N
    BRITISH JOURNAL OF DERMATOLOGY, 2005, 152 (05) : 1030 - 1032
  • [5] A novel WRN mutation identified in a patient with Werner syndrome and acute generalized exanthematous pustulosis
    Kawai, Toru
    Hayashi, Ryota
    Hama, Natsumi
    Shinkuma, Satoru
    Fujimoto, Atsushi
    Shimomura, Yutaka
    Abe, Riichiro
    EUROPEAN JOURNAL OF DERMATOLOGY, 2018, 28 (04) : 553 - 554
  • [6] A novel WRN mutation identified in a patient with Werner syndrome and acute generalized exanthematous pustulosis
    Toru Kawai
    Ryota Hayashi
    Natsumi Hama
    Satoru Shinkuma
    Atsushi Fujimoto
    Yutaka Shimomura
    Riichiro Abe
    European Journal of Dermatology, 2018, 28 : 553 - 554
  • [7] Case Report: A novel WRN mutation in Werner syndrome patient with diabetic foot disease and myelodysplastic syndrome
    Peng, Huifang
    Wang, Jie
    Liu, Yanyun
    Yang, Haiping
    Li, Liping
    Ma, Yujin
    Zhuo, Huiqin
    Jiang, Hongwei
    FRONTIERS IN ENDOCRINOLOGY, 2022, 13
  • [8] Recent Trends in WRN Gene Mutation Patterns in Individuals with Werner Syndrome
    Yamaga, Masaya
    Takemoto, Minoru
    Takada-Watanabe, Aki
    Koizumi, Naoko
    Kitamoto, Takumi
    Sakamoto, Kenichi
    Ishikawa, Takahiro
    Koshizaka, Masaya
    Maezawa, Yoshiro
    Yokote, Koutaro
    JOURNAL OF THE AMERICAN GERIATRICS SOCIETY, 2017, 65 (08) : 1853 - 1856
  • [9] WRN protein as a novel erythroblast immunohistochemical marker with applications for the diagnosis of Werner syndrome
    Sadahira, Yoshito
    Sugihara, Takashi
    Fujiwara, Hideyo
    Nishimura, Hirotake
    Suetsugu, Yoshimasa
    Takeshita, Morishige
    Okamura, Seiichi
    Goto, Makoto
    VIRCHOWS ARCHIV, 2015, 466 (03) : 343 - 350
  • [10] A novel and unanticipated link between the Werner syndrome protein (WRN) and protein translation
    Iglesias Pedraz, J. M.
    Fossati Jara, D. M.
    Araujo, J.
    Pinto, J.
    Li, B.
    Comai, L.
    ANNALS OF ONCOLOGY, 2016, 27
12345