Six novel mutations in the GCK gene in MODY patients

被引：11
|
作者：
Pinterova, D.
Ek, J.
Kolostova, K.
Pruhova, S.
Novota, P.
Romzova, M.
Feigerlova, E.
Cerna, M.
Lebl, J.
Pedersen, O.
Hansen, T.
机构：
[1] Charles Univ, Fac Med 3, Dept Mol & Cell Biol, Prague 10000 10, Czech Republic
[2] Charles Univ, Fac Med 3, Dept Pediat, Prague 10000 10, Czech Republic
[3] Steno Diabet Ctr, DK-2820 Gentofte, Denmark
[4] Hagedorn Res Inst, Gentofte, Denmark
来源：
CLINICAL GENETICS | 2007年 / 71卷 / 01期
关键词：
D O I：
10.1111/j.1399-0004.2006.00729.x
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：95 / 96
页数：2
相关论文
共 50 条
  • [31] Quality of life assessment in patients with HNF1A-MODY and GCK-MODY
    Magdalena Szopa
    Bartlomiej Matejko
    Damian Ucieklak
    Agata Uchman
    Jerzy Hohendorff
    Sandra Mrozińska
    Wojciech Głodzik
    Barbara Zapała
    Teresa Płatek
    Iwona Solecka
    Cyrus M Sani
    Maciej T. Małecki
    Endocrine, 2019, 64 : 246 - 253
  • [32] Novel mutations and a mutational hotspot in the MODY3 gene
    Glucksmann, MA
    Lehto, M
    Tayber, O
    Scotti, S
    Berkemeier, L
    Pulido, JC
    Wu, Y
    Nir, WJ
    Fang, L
    Markel, P
    Munnelly, KD
    Goranson, J
    Orho, M
    Young, BM
    Whitacre, JL
    McMenimen, C
    Wantman, M
    Tuomi, T
    Warram, J
    Forsblom, CM
    Carlsson, M
    Rosenzweig, J
    Kennedy, G
    Duyk, GM
    Krolewski, AS
    Groop, LC
    Thomas, JD
    DIABETES, 1997, 46 (06) : 1081 - 1086
  • [33] Quality of life assessment in patients with HNF1A-MODY and GCK-MODY
    Szopa, Magdalena
    Matejko, Bartlomiej
    Ucieklak, Damian
    Uchman, Agata
    Hohendorff, Jerzy
    Mrozinska, Sandra
    Glodzik, Wojciech
    Zapala, Barbara
    Platek, Teresa
    Solecka, Iwona
    Sani, Cyrus M.
    Malecki, Maciej T.
    ENDOCRINE, 2019, 64 (02) : 246 - 253
  • [34] Mutations in GCK May Lead to MODY2 by Reducing Glycogen Synthesis
    Li, Zongyue
    Li, Kunxia
    Sun, Yan
    Jiang, Xiuyun
    Liu, Jia
    Li, Jingyi
    Fang, Li
    Li, Guimei
    Guan, Qingbo
    Xu, Chao
    ADVANCED BIOLOGY, 2022, 6 (11):
  • [35] Gene dosage changes in the GCK gene not detected by Sanger DNA sequencing in two patients with phenotypic MODY 2
    Birkebaek, Niels H.
    Brusgaard, Klaus
    HORMONE RESEARCH IN PAEDIATRICS, 2019, 91 : 288 - 289
  • [36] MODY 2: REPORT OF TWO CASES WITH A NEW GENE MUTATION IN GCK
    Chiarpenello, J.
    Fernandez, L.
    Riccobene, A.
    Baella, A.
    Strallnicoff, M.
    Castagnani, V
    Herrera, M.
    Sermasi, V
    Laurenti, N.
    Carretto, H.
    Baquedano, M. S.
    REVISTA MEDICA DE ROSARIO, 2015, 81 (03): : 123 - 126
  • [37] A MODY2 pedigree with GCK gene mutation and literatures review
    Huang, Siqi
    Hou, Lele
    Meng, Zhe
    Liang, Liyang
    HORMONE RESEARCH IN PAEDIATRICS, 2022, 95 (SUPPL 2): : 475 - 475
  • [38] Hemoglobin A1C can differentiate subjects with GCK mutations among patients suspected to have MODY
    Uzman, Ceren Yilmaz
    Erbas, Ibrahim Mert
    Bozkaya, Ozlem Giray
    Paketci, Ahu
    Caglayan, Ahmet Okay
    Abaci, Ayhan
    Kulali, Melike Ataseven
    Bober, Ece
    Kekilli, Arda
    Cinleti, Tayfun
    Ercal, Murat Derya
    Demir, Korcan
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2022, 35 (12): : 1528 - 1536
  • [39] Identification of a novel glucokinase mutation in an Indian woman with GCK-MODY
    Jha, Sujeet
    Siddiqui, Samreen
    Waghdhare, Swati
    Dubey, Shweta
    Krishna, Shuba
    Subramanian, Kalyanasundaram
    Dikshit, Jyoti Bajpai
    Ravikiran, L.
    Bhargava, Amit
    LANCET DIABETES & ENDOCRINOLOGY, 2016, 4 (04): : 302 - 302
  • [40] GCK gene mutations are a common cause of childhood-onset MODY (maturity-onset diabetes of the young) in Turkey
    Haliloglu, Belma
    Hysenaj, Gerald
    Atay, Zeynep
    Guran, Tulay
    Abali, Saygin
    Turan, Serap
    Bereket, Abdullah
    Ellard, Sian
    CLINICAL ENDOCRINOLOGY, 2016, 85 (03) : 393 - 399
12345