Predicting the pathogenicity of NKX2-1 and IGSF1 variants with in silico bioinformatic tools

被引:0
|
作者
Narumi, Satoshi [1 ]
机构
[1] Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo 1578535, Japan
关键词
congenital hypothyroidism; NKX2-1; IGSF1; mutation; genetics; in silico; CONGENITAL HYPOTHYROIDISM; TSHR MUTATIONS;
D O I
10.1297/cpe.29.123
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:123 / 126
页数:4
相关论文
共 50 条
  • [31] Foxa2 and Cdx2 cooperate with Nkx2-1 to inhibit lung adenocarcinoma metastasis
    Li, Carman Man-Chung
    Gocheva, Vasilena
    Oudin, Madeleine J.
    Bhutkar, Arjun
    Wang, Shi Yun
    Date, Saya R.
    Ng, Sheng Rong
    Whittaker, Charles A.
    Bronson, Roderick T.
    Snyder, Eric L.
    Gertler, Frank B.
    Jacks, Tyler
    GENES & DEVELOPMENT, 2015, 29 (17) : 1850 - 1862
  • [32] High-resolution computed tomography findings of thyroid transcription factor 1 deficiency (NKX2-1 mutations)
    LeMoine, Benjamin D.
    Browne, Lorna P.
    Liptzin, Deborah R.
    Deterding, Robin R.
    Galambos, Csaba
    Weinman, Jason P.
    PEDIATRIC RADIOLOGY, 2019, 49 (07) : 869 - 875
  • [33] Inactivating mutations and hypermethylation of the NKX2-1/TTF-1 gene in non-terminal respiratory unit-type lung adenocarcinomas
    Matsubara, Daisuke
    Soda, Manabu
    Yoshimoto, Taichiro
    Amano, Yusuke
    Sakuma, Yuji
    Yamato, Azusa
    Ueno, Toshihide
    Kojima, Shinya
    Shibano, Tomoki
    Hosono, Yasuyuki
    Kawazu, Masahito
    Yamashita, Yoshihiro
    Endo, Shunsuke
    Hagiwara, Koichi
    Fukayama, Masashi
    Takahashi, Takashi
    Mano, Hiroyuki
    Niki, Toshiro
    CANCER SCIENCE, 2017, 108 (09): : 1888 - 1896
  • [34] Distinct expression of NK2 homeobox 1 (NKX2-1) and goblet cell hyperplasia in nasal polyps with different endotypes
    Du, Jintao
    Ba, Luo
    Li, Bo
    Liu, Feng
    Hu, Xianting
    Zhang, Jie
    Liu, Yafeng
    Xian, Junming
    Liu, Sixi
    Li, Huabin
    INTERNATIONAL FORUM OF ALLERGY & RHINOLOGY, 2017, 7 (07) : 690 - 698
  • [35] NKX2-1与肺组织疾病的关系及研究进展
    杨莉
    应可净
    国际呼吸杂志, 2010, (10) : 606 - 609
  • [36] Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance
    Hoppe, Kerstin
    Jurkat-Rott, Karin
    Kranepuhl, Stefanie
    Wearing, Scott
    Heiderich, Sebastian
    Merlak, Sonja
    Klingler, Werner
    SCIENTIFIC REPORTS, 2021, 11 (01)
  • [37] NKX2-1/TTF-1: An Enigmatic Oncogene that Functions as a Double-Edged Sword for Cancer Cell Survival and Progression
    Yamaguchi, Tomoya
    Hosono, Yasuyuki
    Yanagisawa, Kiyoshi
    Takahashi, Takashi
    CANCER CELL, 2013, 23 (06) : 718 - 723
  • [38] Regional expression of the homeobox gene NKX2-1 defines pallidal and interneuronal populations in the basal ganglia of amphibians
    González, A
    López, JM
    Sánchez-Camacho, C
    Marín, O
    NEUROSCIENCE, 2002, 114 (03) : 567 - 575
  • [39] A Smad3 and TTF-1/NKX2-1 complex regulates Smad4-independent gene expression
    Isogaya, Kazunobu
    Koinuma, Daizo
    Tsutsumi, Shuichi
    Saito, Roy-Akira
    Miyazawa, Keiji
    Aburatani, Hiroyuki
    Miyazono, Kohei
    CELL RESEARCH, 2014, 24 (08) : 994 - 1008
  • [40] A Smad3 and TTF-1/NKX2-1 complex regulates Smad4-independent gene expression
    Kazunobu Isogaya
    Daizo Koinuma
    Shuichi Tsutsumi
    Roy-Akira Saito
    Keiji Miyazawa
    Hiroyuki Aburatani
    Kohei Miyazono
    Cell Research, 2014, 24 : 994 - 1008