Bi-allelic variants in INSL3 and RXFP2 cause bilateral cryptorchidism and male infertility

被引：0
|
作者：
Dicke, Ann-Kristin [1 ]
Wyrwoll, Margot Julia [1 ]
Albrethsen, Jakob Christian
Busch, Alexander [2 ]
Fietz, D. [3 ]
Pilatz, Adrian [4 ]
Juul, Anders [2 ]
Kliesch, Sabine [5 ]
Gromoll, Joerg [5 ]
Stallmeyer, Birgit [1 ]
Tuettelmann, Frank [1 ]
机构：
[1] Univ Munster, Inst Reprod Genet, Munster, Germany
[2] Univ Copenhagen, Dept Growth & Reprod, Rigshosp, Copenhagen, Denmark
[3] Justus Liebig Univ Giessen, Inst Vet Anat Histol & Embryol, Giessen, Germany
[4] Justus Liebig Univ Giessen, Clin Urol Paediat Urol & Androl, Giessen, Germany
[5] Univ Hosp Munster, Ctr Reprod Med & Androl, Munster, Germany
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P01.003.C
引用
收藏
页码：346 / 346
页数：1
相关论文
共 50 条
  • [31] Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice
    Tu, Chaofeng
    Cong, Jiangshan
    Zhang, Qianjun
    He, Xiaojin
    Zheng, Rui
    Yang, Xiaoxuan
    Gao, Yang
    Wu, Huan
    Lv, Mingrong
    Gu, Yayun
    Lu, Shuai
    Liu, Chunyu
    Tian, Shixiong
    Meng, Lanlan
    Wang, Weili
    Tan, Chen
    Nie, Hongchuan
    Li, Dongyan
    Zhang, Huan
    Gong, Fei
    Hu, Liang
    Lu, Guangxiu
    Xu, Wenming
    Lin, Ge
    Zhang, Feng
    Cao, Yunxia
    Tan, Yue-Qiu
    AMERICAN JOURNAL OF HUMAN GENETICS, 2021, 108 (08) : 1466 - 1477
  • [32] Spermatic RXFP2 expression levels and seminal INSL3 concentrations among beef bull ejaculates with different levels of sperm morphological normality
    Wimalarathne, Hewage Dilhan Anuradha
    Arashi, Kenta
    Iwaki, Fumiyuki
    Sakase, Mitsuhiro
    Duritahala
    Harayama, Hiroshi
    Kawate, Noritoshi
    JOURNAL OF REPRODUCTION AND DEVELOPMENT, 2025, 71 (01): : 35 - 40
  • [33] Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis
    Morali, Burcin
    Miranda, Valancy
    Raelson, John
    Grimard, Guy
    Glavas, Peter
    Audibert, Francois
    Dumont, Nicolas A.
    Barone, Julia
    Bamshad, Michael
    Lemyre, Emmanuelle
    Campeau, Philippe M.
    CLINICAL GENETICS, 2024, 106 (04) : 483 - 487
  • [34] Bi-allelic pathogenic variants in PABPC1L cause oocyte maturation arrest and female infertility
    Wang, Weijie
    Guo, Jing
    Shi, Juanzi
    Li, Qun
    Chen, Biaobang
    Pan, Zhiqi
    Qu, Ronggui
    Fu, Jing
    Shi, Rong
    Xue, Xia
    Mu, Jian
    Zhang, Zhihua
    Wu, Tianyu
    Wang, Wenjing
    Zhao, Lin
    Li, Qiaoli
    He, Lin
    Sun, Xiaoxi
    Sang, Qing
    Lin, Ge
    Wang, Lei
    EMBO MOLECULAR MEDICINE, 2023, 15 (06)
  • [35] Ovarian Expression of Insulin-Like Peptide 3 (INSL3) and Its Receptor (RXFP2) During Development of Bovine Antral Follicles and Corpora Lutea and Measurement of Circulating INSL3 Levels During Synchronized Estrous Cycles
    Satchell, Leanne
    Glister, Claire
    Bleach, Emma C.
    Glencross, Richard G.
    Bicknell, Andrew B.
    Dai, Yanzhenzi
    Anand-Ivell, Ravinder
    Ivell, Richard
    Knight, Philip G.
    ENDOCRINOLOGY, 2013, 154 (05) : 1897 - 1906
  • [36] Bi-allelic human TEKT3 mutations cause male infertility with oligoasthenoteratozoospermia owing to acrosomal hypoplasia and reduced progressive motility
    Liu, Yiyuan
    Li, Yuqian
    Meng, Lanlan
    Li, Kuokuo
    Gao, Yang
    Lv, Mingrong
    Guo, Rui
    Xu, Yuping
    Zhou, Ping
    Wei, Zhaolian
    He, Xiaojin
    Cao, Yunxia
    Wu, Huan
    Tan, Yueqiu
    Hua, Rong
    HUMAN MOLECULAR GENETICS, 2023, 32 (10) : 1730 - 1740
  • [37] Bi-allelic Missense Pathogenic Variants in TRIP13 Cause Female Infertility Characterized by Oocyte Maturation Arrest
    Zhang, Zhihua
    Li, Bin
    Fu, Jing
    Li, Rong
    Diao, Feiyang
    Li, Caihong
    Chen, Biaobang
    Du, Jing
    Zhou, Zhou
    Mu, Jian
    Yan, Zheng
    Wu, Ling
    Liu, Shuai
    Wang, Wenjing
    Zhao, Lin
    Dong, Jie
    He, Lin
    Liang, Xiaozhen
    Kuang, Yanping
    Sun, Xiaoxi
    Sang, Qing
    Wang, Lei
    AMERICAN JOURNAL OF HUMAN GENETICS, 2020, 107 (01) : 15 - 23
  • [38] Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility
    Liu, Chunyu
    Miyata, Haruhiko
    Gao, Yang
    Sha, Yanwei
    Tang, Shuyan
    Xu, Zoulan
    Whitfield, Marjorie
    Patrat, Catherine
    Wu, Huan
    Dulioust, Emmanuel
    Tian, Shixiong
    Shimada, Keisuke
    Cong, Jiangshan
    Noda, Taichi
    Li, Hang
    Morohoshi, Akane
    Cazin, Caroline
    Kherraf, Zine-Eddine
    Arnoult, Christophe
    Jin, Li
    He, Xiaojin
    Ray, Pierre F.
    Cao, Yunxia
    Toure, Aminata
    Zhang, Feng
    Ikawa, Masahito
    AMERICAN JOURNAL OF HUMAN GENETICS, 2020, 107 (02) : 330 - 341
  • [39] Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders
    Mitani, Tadahiro
    Punetha, Jaya
    Akalin, Ibrahim
    Pehlivan, Davut
    Dawidziuk, Mateusz
    Akdemir, Zeynep Coban
    Yilmaz, Sarenur
    Aslan, Ezgi
    Hunter, Jill V.
    Hijazi, Hadia
    Grochowski, Christopher M.
    Jhangiani, Shalini N.
    Karaca, Ender
    Fatih, Jawid M.
    Iwanowski, Piotr
    Gambin, Tomasz
    Wlasienko, Pawel
    Goszczanska-Ciuchta, Alicja
    Bekiesinska-Figatowska, Monika
    Hosseini, Masoumeh
    Arzhangi, Sanaz
    Najmabadi, Hossein
    Rosenfeld, Jill A.
    Du, Haowei
    Marafi, Dana
    Blaser, Susan
    Teitelbaum, Ronni
    Silver, Rachel
    Posey, Jennifer E.
    Ropers, Hans-Hilger
    Gibbs, Richard A.
    Wiszniewski, Wojciech
    Lupski, James R.
    Chitayat, David
    Kahrizi, Kimia
    Gawlinski, Pawel
    AMERICAN JOURNAL OF HUMAN GENETICS, 2019, 105 (05) : 1005 - 1015
  • [40] Novel bi-allelic variants in DNAH10 lead to multiple morphological abnormalities of sperm flagella and male infertility
    Shoaib, Muhammad
    Zubair, Muhammad
    Shah, Wasim
    Uddin, Meftah
    Hussain, Ansar
    Mustafa, Ghulam
    Rahim, Fazal
    Zhang, Huan
    Ali, Imtiaz
    Abbas, Tanveer
    Raza, Yousaf
    Fan, Sui-Xing
    Shi, Qing-Hua
    ASIAN JOURNAL OF ANDROLOGY, 2025,
12345