Missense mutations in exon 2 of the MED12 gene are involved in IGF-2 overexpression in uterine leiomyoma [0.03%]
子宫肌瘤中MED12基因外显子2的错义突变与IGF-2过表达相关
S Di Tommaso,A Tinelli,A Malvasi et al.
S Di Tommaso et al.
Uterine leiomyoma (UL), the most common benign tumour found in females, is associated with many recurrent genetic aberrations, such as translocations, interstitial deletions and specific germline mutations. Among these, mutations affecting ...
Julia R Dorin,Christopher L R Barratt
Julia R Dorin
Recent work in humans and mouse has confirmed the involvement of the host defence β-defensin peptides in male fertility. We discuss here the work that has implicated β-defensins in sperm function including the identification of the epidid...
DNA methylome profiling of maternal peripheral blood and placentas reveal potential fetal DNA markers for non-invasive prenatal testing [0.03%]
基于母体外周血和胎盘的DNA甲基化组研究发现非侵入性产前检测潜在标志物
Yuqian Xiang,Junyu Zhang,Qiaoli Li et al.
Yuqian Xiang et al.
Utilizing epigenetic (DNA methylation) differences to differentiate between maternal peripheral blood (PBL) and fetal (placental) DNA has been a promising strategy for non-invasive prenatal testing (NIPT). However, the differentially methyl...
Comparative Study
Molecular human reproduction. 2014 Sep;20(9):875-84. DOI:10.1093/molehr/gau048 2014
Lysophosphatidic acid and sphingosine 1-phosphate metabolic pathways and their receptors are differentially regulated during decidualization of human endometrial stromal cells [0.03%]
溶血磷脂酸和鞘氨醇-1-磷酸的代谢途径及其受体在人子宫内膜间质细胞蜕膜化过程中的调节不同
D Brünnert,M Sztachelska,F Bornkessel et al.
D Brünnert et al.
In the luteal phase, human endometrial stromal cells (HESCs) undergo proliferation, migration and differentiation during the decidualization process under the control of the ovarian steroids progesterone and estrogen. Proper decidualization...
Dynamic regulation of DNA methyltransferases in human oocytes and preimplantation embryos after assisted reproductive technologies [0.03%]
辅助生殖技术诱导人类卵母细胞和着床前胚胎DNA甲基转移酶的动态调节
Laetitia Petrussa,Hilde Van de Velde,Martine De Rycke
Laetitia Petrussa
DNA methylation is a key epigenetic modification which is essential for normal embryonic development. Major epigenetic reprogramming takes place during gametogenesis and in the early embryo; the complex DNA methylation patterns are establis...
Heterogeneous spectrum of mutations in CFTR gene from Indian patients with congenital absence of the vas deferens and their association with cystic fibrosis genetic modifiers [0.03%]
印度CAVD患者CFTR基因突变的异质性及其与囊性纤维化遗传修饰因子的关系研究
H Sharma,R S Mavuduru,S K Singh et al.
H Sharma et al.
Cystic fibrosis (CF) is usually considered a rare disease in the Indian population. Two studies have reported on the frequency of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Indian males with congenital abse...
Effects of the environmental contaminants DEHP and TCDD on estradiol synthesis and aryl hydrocarbon receptor and peroxisome proliferator-activated receptor signalling in the human granulosa cell line KGN [0.03%]
环境污染物DEHP和TCDD对人颗粒细胞系KGN雌二醇合成及AhR和PPAR信号通路的影响
Jana Ernst,Johann-Christoph Jann,Ronald Biemann et al.
Jana Ernst et al.
Environmental contaminants binding to transcription factors, such as the aryl hydrocarbon receptor (AhR) and the alpha and gamma peroxisome proliferator-activated receptors (PPARs), contribute to adverse effects on the reproductive system. ...
Comparative Study
Molecular human reproduction. 2014 Sep;20(9):919-28. DOI:10.1093/molehr/gau045 2014
Genome-wide hypermethylation coupled with promoter hypomethylation in the chorioamniotic membranes of early onset pre-eclampsia [0.03%]
早发型子痫前期胎盘滋养层细胞的基因组高甲基化与启动子低甲基化的关联研究
Travers Ching,Min-Ae Song,Maarit Tiirikainen et al.
Travers Ching et al.
Pre-eclampsia is the leading cause of fetal and maternal morbidity and mortality. Early onset pre-eclampsia (EOPE) is a disorder that has severe maternal and fetal outcomes, whilst its etiology is poorly understood. We hypothesize that epig...
Menstrual blood-derived stromal stem cells from women with and without endometriosis reveal different phenotypic and functional characteristics [0.03%]
月经病患者和非患者的子宫内膜异位症衍生的stromal干细胞具有不同的表型和功能特征
Shohreh Nikoo,Massoumeh Ebtekar,Mahmood Jeddi-Tehrani et al.
Shohreh Nikoo et al.
Retrograde flow of menstrual blood cells during menstruation is considered as the dominant theory for the development of endometriosis. Moreover, current evidence suggests that endometrial-derived stem cells are key players in the pathogene...
Gene copy number alterations in the azoospermia-associated AZFc region and their effect on spermatogenic impairment [0.03%]
AZFc区基因拷贝数异常及其对生精功能障碍的影响
Chuncheng Lu,Jie Jiang,Ruyang Zhang et al.
Chuncheng Lu et al.
The azoospermia factor c (AZFc) region in the long arm of human Y chromosome is characterized by massive palindromes. It harbors eight multi-copy gene families that are expressed exclusively or predominantly in testis. To assess systematica...