Aberrant mRNA splicing of paired box 4 (PAX4) IVS7-1G>A mutation causing maturity-onset diabetes of the young, type 9

被引：0
|
作者：
Jatuporn Sujjitjoon
Suwattanee Kooptiwut
Nalinee Chongjaroen
Watip Tangjittipokin
Nattachet Plengvidhya
Pa-thai Yenchitsomanus
机构：
[1] Mahidol University,Division of Molecular Medicine, Department of Research and Development, Faculty of Medicine Siriraj Hospital
[2] Mahidol University,Graduate Program in Immunology, Department of Immunology, Faculty of Medicine Siriraj Hospital
[3] Mahidol University,Department of Physiology, Faculty of Medicine Siriraj Hospital
[4] Mahidol University,Department of Immunology, Faculty of Medicine Siriraj Hospital
[5] Mahidol University,Division of Endocrinology and Metabolism, Department of Medicine, Faculty of Medicine Siriraj Hospital
来源：
Acta Diabetologica | 2016年 / 53卷
关键词：
MODY; β-Cell survival; Splice site mutation; mRNA splicing defect; Minigene assay ;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：205 / 216
页数：11
相关论文
共 21 条
  • [1] Aberrant mRNA splicing of paired box 4 (PAX4) IVS7-1G>A mutation causing maturity-onset diabetes of the young, type 9
    Sujjitjoon, Jatuporn
    Kooptiwut, Suwattanee
    Chongjaroen, Nalinee
    Tangjittipokin, Watip
    Plengvidhya, Nattachet
    Yenchitsomanus, Pa-thai
    ACTA DIABETOLOGICA, 2016, 53 (02) : 205 - 216
  • [2] Aberrant mRNA Splicing of PAX4 IVS7-1G>A Mutation Causing Maturity-Onset Diabetes of the Young, Type 9 (MODY9)
    Sujjitjoon, Jatuporn
    Kooptiwut, Suwatttanee
    Chong-Jaroen, Nalinee
    Tangjittipokin, Watip
    Yenchitsomanus, Pa-Thai
    Plengvidhya, Nattachet
    DIABETES, 2014, 63 : A36 - A36
  • [3] A Novel PAX4 Mutation in a Japanese Patient with Maturity-Onset Diabetes of the Young
    Jo, Wakako
    Endo, Machiko
    Ishizu, Katura
    Nakamura, Akie
    Tajima, Toshihiro
    TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE, 2011, 223 (02): : 113 - 118
  • [4] Detection of PAX4 mutations in Japanese patients with maturity-onset diabetes of the young
    Takizawa, M.
    Iwasaki, N.
    Ogata, M.
    Ide, R.
    Uchigata, Y.
    DIABETOLOGIA, 2013, 56 : S151 - S151
  • [5] The ominous trio of PCSK1, CHD7 and PAX4: Normosmic hypogonadotropic hypogonadism with maturity-onset diabetes in a young man
    Cho, Yun Kyung
    Lee, Jin Mi
    Song, Geehyun
    Choi, Hoon Sung
    Cho, Eun-Hee
    Kim, Sang-Wook
    CLINICAL ENDOCRINOLOGY, 2020, 92 (06) : 554 - 557
  • [6] Defective PAX4 R192H transcriptional repressor activities associated with maturity onset diabetes of the young and early onset-age of type 2 diabetes
    Kooptiwut, Suwattanee
    Plengvidhya, Nattachet
    Chukijrungroat, Titikan
    Sujjitjoon, Jatuporn
    Semprasert, Namoiy
    Furuta, Hiroto
    Yenchitsomanus, Pa-thai
    JOURNAL OF DIABETES AND ITS COMPLICATIONS, 2012, 26 (04) : 343 - 347
  • [7] Functional properties of the R154X HNF-4α protein generated by a mutation associated with maturity-onset diabetes of the young, type 1
    Laine, B
    Eeckhoute, J
    Suaud, L
    Briche, I
    Furuta, H
    Bell, GI
    Formstecher, P
    FEBS LETTERS, 2000, 479 (1-2) : 41 - 45
  • [8] R127W in HNF4α is a loss-of-function mutation causing maturity-onset diabetes of the young (MODY) in a UK Caucasian family
    Bulman, MP
    Ellard, S
    Hattersley, AT
    DIABETOLOGIA, 2000, 43 (09) : 1203 - 1203
  • [9] R127W in HNF4α is a loss-of-function mutation causing maturity-onset diabetes of the young (MODY) in a UK Caucasian family
    Diabetologia, 2000, 43 (9) : 1203 - 1203
  • [10] In silico and in vitro analyses of the pathological relevance of the R258H mutation of hepatocyte nuclear factor 4α identified in maturity-onset diabetes of the young type 1
    Sugawara, Kenji
    Nomura, Kazuhiro
    Okada, Yuko
    Sugano, Aki
    Matsumoto, Masaaki
    Takarada, Toru
    Takeuchi, Atsuko
    Awano, Hiroyuki
    Hirota, Yushi
    Nishio, Hisahide
    Takaoka, Yutaka
    Ogawa, Wataru
    JOURNAL OF DIABETES INVESTIGATION, 2019, 10 (03) : 680 - 684
123