Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype

被引：19
|
作者：
Ojeda, Diego [1 ]
Lakhal, Besma [2 ]
Janneth Fonseca, Dora [1 ]
Braham, Rim [3 ]
Landolsi, Hanene [2 ]
Eliana Mateus, Heidi [1 ]
Martin Restrepo, Carlos [1 ]
Elghezal, Hatem [2 ]
Saad, Ali [2 ]
Laissue, Paul [1 ]
机构：
[1] Univ Rosario, Unidad Genet, Escuela Med & Ciencias Salud, Bogota, Colombia
[2] Farhat Hached Univ Teaching Hosp, Dept Cytogenet & Reprod Biol, Sousse, Tunisia
[3] Farhat Hached Univ Teaching Hosp, Dept Endocrinol, Sousse, Tunisia
来源：
FERTILITY AND STERILITY | 2011年 / 95卷 / 08期
关键词：
Premature ovarian failure (POF); CDKN1B; mutations; sequencing; HORMONE-RECEPTOR GENE; FOLLICULAR DEVELOPMENT; ACTIVATION; FOXO3A; MICE; SUPPRESSION; LOCUS; WOMEN; BMP15;
D O I：
10.1016/j.fertnstert.2011.04.045
中图分类号：
R71 [妇产科学];
学科分类号：
100211 ;
摘要：
Earlier reports demonstrated a key role of Cdkn1b during mouse ovarian development. In this study, the sequencing analysis of the complete coding region of this gene in a panel of premature ovarian failure patients and control subjects reveals a novel mutation potentially related to the phenotype. ( Fertil Steril (R) 2011;95:2658-60. (C) 2011 by American Society for Reproductive Medicine.)
引用
收藏
页码：2658 / U711
页数：4
相关论文
共 50 条
  • [31] Analysis of cyclin-dependent kinase inhibitor 1B mutation in Han Chinese women with premature ovarian failure
    Wang, Binbin
    Ni, Feng
    Li, Lin
    Wei, Zhaolian
    Zhu, Xianglong
    Wang, Jing
    Cao, Yunxia
    Ma, Xu
    REPRODUCTIVE BIOMEDICINE ONLINE, 2010, 21 (02) : 212 - 214
  • [32] Parathyroid hormone-responsive B1 gene is associated with premature ovarian failure
    Kang, HyunJun
    Lee, Seung Ku
    Kim, Min-Ho
    Song, JiHyun
    Bae, Su Jin
    Kim, Nam Keun
    Lee, Sook-Hwan
    Kwack, KyuBum
    HUMAN REPRODUCTION, 2008, 23 (06) : 1457 - 1465
  • [33] The POF1B candidate gene for premature ovarian failure regulates epithelial polarity
    Padovano, Valeria
    Lucibello, Ilaria
    Alari, Valentina
    Della Mina, Pamela
    Crespi, Arianna
    Ferrari, Ilaria
    Recagni, Marta
    Lattuada, Donatella
    Righi, Marco
    Toniolo, Daniela
    Villa, Antonello
    Pietrini, Grazia
    JOURNAL OF CELL SCIENCE, 2011, 124 (19) : 3356 - 3368
  • [34] A novel POF1B variant in a Chinese patient is associated with premature ovarian failure
    Yuan, Zhuang-Zhuang
    Wang, Chen-Yu
    Jin, Jie-Yuan
    Sheng, Yue
    Zhao, Mei-Fang
    Fan, Liang-Liang
    Zhang, Ai-Qian
    CLINICAL GENETICS, 2021, 100 (06) : 773 - 774
  • [35] Mutational analysis of the follistatin-related gene in women with premature ovarian failure and polycystic ovary syndrome
    Kimura, Fuminori
    Takebayashi, Koichi
    Fujiwara, Mutsuko
    Akiyama, Minoru
    Takahashi, Kentaro
    Noda, Yoichi
    ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA, 2006, 85 (07) : 885 - 886
  • [36] Analysis of progesterone receptor membrane component 1 mutation in Han Chinese women with premature ovarian failure
    Wang, Jiu-Ling
    Li, Shu-Ling
    Qin, Ying-Ying
    Chen, Zi-Jiang
    REPRODUCTIVE BIOMEDICINE ONLINE, 2014, 29 (05) : 640 - 643
  • [37] Functional characterization of a rare germline mutation in the gene encoding the cyclin-dependent kinase inhibitor p27Kip1 (CDKN1B) in a Spanish patient with multiple endocrine neoplasia-like phenotype
    Malanga, Donatella
    De Gisi, Silvia
    Riccardi, Miriam
    Scrima, Marianna
    De Marco, Carmela
    Robledo, Mercedes
    Viglietto, Giuseppe
    EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2012, 166 (03) : 551 - 560
  • [38] Low TOP3B level associated with CDKN1B overexpression is linked to tamoxifen resistance in breast cancer: gene set enrichment analysis
    Kim, Dong-Hoon
    Min, Kyueng-Whan
    Chae, Seoung Wan
    Do, Sung-Im
    Oh, Young-Ha
    Son, Byoung Kwan
    MODERN PATHOLOGY, 2019, 32
  • [39] Mutation analysis of the growth differentiation factor-9 and-9B genes in patients with premature ovarian failure and polycystic ovary syndrome
    Takebayashi, K
    Takakura, K
    Wang, HQ
    Kimura, F
    Kasahara, K
    Noda, Y
    FERTILITY AND STERILITY, 2000, 74 (05) : 976 - 979
  • [40] Low TOP3B level associated with CDKN1B overexpression is linked to tamoxifen resistance in breast cancer: gene set enrichment analysis
    Kim, Dong-Hoon
    Min, Kyueng-Whan
    Chae, Seoung Wan
    Do, Sung-Im
    Oh, Young-Ha
    Son, Byoung Kwan
    LABORATORY INVESTIGATION, 2019, 99
12345