Abstract:
RESEARCH QUESTION:The family with sequence similarity 175 member A gene (FAM175A; also known as ABRAXAS1, CCDC98 and ABRA1), a member of the DNA repair family, contributes to the BRCA1 (BRCA1 DNA repair associated)-dependent DNA damage response and is associated with age at natural menopause. However, it remains poorly understood whether sequence variants in FAM175A are causative for premature ovarian insufficiency (POI). The aim of this study was to investigate whether mutations in the gene FAM175A were present in patients with POI. DESIGN:A total of 400 women with idiopathic POI and 498 control women with regular menstruation (306 age-matched women and 192 women over 40 years old) were recruited. After Sanger sequencing of FAM175A, functional experiments were carried out to explore the deleterious effects of the identified variation. DNA damage was subsequently induced by mitomycin C (MMC), and DNA repair capacity and G2-M checkpoint activation were evaluated by examining the phosphorylation level of H2AX (H2A histone family, member X) and the percentage of mitotic cells, respectively. RESULTS:One rare single-nucleotide polymorphism, rs755187051 in gene FAM175A, c.C727G (p.L243V), was identified in two patients but absent in the 498 controls. The functional experiments demonstrated that overexpression of variant p.L243V in HeLa cells resulted in a similar sensitivity to MMC-induced damage compared with cells transfected with wild-type FAM175A. Moreover, after treatment with MMC, there were no differences in DNA repair capacity and G2-M checkpoint activation between the mutant and wild-type genes. CONCLUSION:Our results suggest that the p.L243V variant of FAM175A may not be causative for POI. The contribution of FAM175A to POI needs further exploration.
journal_name
Reprod Biomed Onlinejournal_title
Reproductive biomedicine onlineauthors
Xu X,Zhang Y,Zhao S,Bian Y,Ning Y,Qin Ydoi
10.1016/j.rbmo.2019.02.006subject
Has Abstractpub_date
2019-06-01 00:00:00pages
943-950issue
6eissn
1472-6483issn
1472-6491pii
S1472-6483(19)30104-Xjournal_volume
38pub_type
杂志文章abstract:RESEARCH QUESTION:What is the association between hyperhomocysteinaemia (HHCY), metabolic syndrome, and reproductive outcomes among women with polycystic ovary syndrome (PCOS). DESIGN:A secondary analysis of PCOSAct with 21 sites in China. A total of 1000 women with PCOS were enrolled; 936 women with baseline homocyst...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1016/j.rbmo.2018.12.046
更新日期:2019-06-01 00:00:00
abstract::In medicine the changes in therapies are the evidence of the progress in knowledge. But many examples concerning the treatment of early spontaneous abortion, late abortion, menopause, contraception and infertility show that gynaecologists and obstetricians change their treatments just as fashion designers change their...
journal_title:Reproductive biomedicine online
pub_type: 历史文章,杂志文章
doi:10.1016/s1472-6483(10)60903-0
更新日期:2007-04-01 00:00:00
abstract:RESEARCH QUESTION:To determine whether there is a risk of localized Zika virus (ZIKV) infection in the upper genital tract, specifically the oocytes, follicular fluids and endometrium, in exposed and/or recently infected reproductive-age women. ZIKV is an Aedes mosquito-borne Flavivirus that can lead to birth defects a...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2019.05.013
更新日期:2019-10-01 00:00:00
abstract::The Human Fertilisation and Embryology Authority's report on sex selection is criticized because its recommendation to prohibit all techniques for social sexing is based on unsupported allegations. As a body with a scientific status, the Authority should allow the application of some methods of sex selection for non-m...
journal_title:Reproductive biomedicine online
pub_type: 评论,杂志文章
doi:10.1016/s1472-6483(10)60907-8
更新日期:2004-03-01 00:00:00
abstract::Cervical mucus may cover the embryo transfer catheter during passage of the cervical canal, interfering with the correct placement of the embryo(s) into the uterine cavity. The effect of removal of cervical mucus prior to embryo transfer in IVF/ intracytoplasmic sperm injection (ICSI) on live birth rate was studied. T...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章,随机对照试验
doi:10.1016/s1472-6483(10)60344-6
更新日期:2007-09-01 00:00:00
abstract:RESEARCH QUESTION:Can single-nucleotide polymorphisms (SNP) of genes related to progesterone synthesis predict the risk of premature serum progesterone elevation in women undergoing gonadotrophin-releasing hormone agonist protocols for ovarian stimulation? DESIGN:A total of 765 women were divided into high progesteron...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2019.12.013
更新日期:2020-03-01 00:00:00
abstract:RESEARCH QUESTION:Does the use of preimplantation genetic testing for aneuploidies (PGT-A) improve outcomes in couples with severe male factor infertility (SMFI)? DESIGN:This retrospective cohort study included SMFI cases that underwent blastocyst transfer with/without PGT-A. Inclusion criteria were SMFI (azoospermia ...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2020.06.015
更新日期:2020-10-01 00:00:00
abstract:RESEARCH QUESTION:What is the molecular basis of infertility related to uterine dysfunction in women with polycystic ovary syndrome (PCOS)? DESIGN:In this study, differences in protein expression between PCOS and normal endometrium were identified using a proteomic approach based on two-dimensional electrophoresis (2-...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2018.04.043
更新日期:2018-08-01 00:00:00
abstract:RESEARCH QUESTION:Multiple sclerosis is predominant in women during the childbearing years and, in case of problems with conceiving naturally, assisted reproductive technology (ART) becomes relevant. The efficacy of ART treatment in women with multiple sclerosis has not previously been studied. Our aim was to examine t...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2020.01.013
更新日期:2020-05-01 00:00:00
abstract::Cryopreservation and density-gradient washing (DGW) are routinely used in infertility treatment. This study used quantitative immunofluorescence analysis to report how these techniques affect concentrations of the oocyte activation factor, phospholipase C zeta (PLCζ) in spermatozoa from fertile men. DGW significantly ...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2011.04.006
更新日期:2011-08-01 00:00:00
abstract:RESEARCH QUESTION:What is the cost-effectiveness of gonadotrophins compared with clomiphene citrate in couples with unexplained subfertility undergoing intrauterine insemination (IUI) with ovarian stimulation under strict cancellation criteria? DESIGN:A cost-effectiveness analysis alongside a randomized controlled tri...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2019.09.004
更新日期:2020-01-01 00:00:00
abstract::The aim of this retrospective study was to determine whether pituitary down-regulation after gonadotrophin-releasing hormone analogue (GnRHa) administration can be accurately predicted by transvaginal ultrasonographic measurement of endometrial thickness in the presence of menstruation. All cycles of an IVF/intracytop...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/s1472-6483(10)61109-1
更新日期:2004-05-01 00:00:00
abstract::The use of donor sperm is increasing, yet limited information is available about the health and development of children conceived from donor sperm. This retrospective descriptive study aimed to assess health and development in a cohort of school-aged children who were conceived using donor sperm. Participants included...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2017.06.012
更新日期:2017-10-01 00:00:00
abstract::Intracytoplasmic sperm injection (ICSI) provides an excellent outcome in a consistent manner, and is therefore used worldwide as a routine procedure. Since its introduction, few modifications have been made to its methodology. Recently, a combination of ICSI with micro-hole drilling by laser (LA-ICSI) of the zona pell...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/s1472-6483(10)62085-8
更新日期:2003-12-01 00:00:00
abstract::The efficiency of a new vitrification technique using embryos obtained after abnormal fertilization was assesed. A total of 100 embryos were vitrified, 48 with the automatic dehydrated carrier (ADC) technique and 52 with cryotop. The survival rates in ADC and cryotop groups were similar (85.4% versus 92.3%). The loss ...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2014.10.012
更新日期:2015-02-01 00:00:00
abstract:RESEARCH QUESTION:Does music therapy help in reducing pain and anxiety in women undergoing transvaginal ultrasound-guided oocyte retrieval (TUGOR)? DESIGN:In this randomized controlled open label study, 209 participants were recruited and randomized into three groups (music group, n = 70; headphone group, n = 70; cont...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.rbmo.2018.04.049
更新日期:2018-08-01 00:00:00
abstract::The effect of translocations on embryo development was evaluated and results were compared in terms of embryo development with those of embryos obtained from standard intracytoplasmic sperm injection (ICSI) cycles. In 23 translocation carriers with 34 cycles, fertilization, pronuclear morphology scoring (PMS), develop...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/s1472-6483(10)62073-1
更新日期:2003-11-01 00:00:00
abstract::Some patients in IVF programmes repeatedly display an abnormal embryonic development characterized as soon as day 2 post fertilization by a high rate (>60%) of highly fragmented embryos (⩾40% of cytoplasmic fragments) leading to recurrent IVF failures. This study postulated that, for various maternal reasons, some emb...
journal_title:Reproductive biomedicine online
pub_type: 临床试验,杂志文章
doi:10.1016/j.rbmo.2012.01.004
更新日期:2012-04-01 00:00:00
abstract::An effective, consistent and xeno-free cryopreservation technique is crucial for any human embryonic stem cell (hESC) laboratory with future perspectives for clinical application. This study presents a new slow freezing-rapid thawing method in serum-free conditions that allows the cryopreservation of a large number of...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/s1472-6483(10)60302-1
更新日期:2008-07-01 00:00:00
abstract:RESEARCH QUESTION:Does obesity affect endometrial gene expression in women with endometriosis, specifically women with stage I disease? DESIGN:Differential gene expression analysis was conducted on endometrium from women with and without endometriosis (n = 169). Women were diagnosed after surgical visualization and st...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2020.03.015
更新日期:2020-07-01 00:00:00
abstract::This study examined the possible involvement of carbonic anhydrase activation in response to an endometriosis-related increase in oxidative stress. Peripheral blood samples obtained from 27 healthy controls and 30 endometriosis patients, classified as having endometriosis by histological examination of surgical specim...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2014.01.016
更新日期:2014-06-01 00:00:00
abstract:RESEARCH QUESTION:To compare stimulated cycle (STC) versus modified natural cycle (MNC) for endometrial preparation prior to frozen embryo transfer (FET) in terms of convenience and efficacy. DESIGN:Prospective, open-label, randomized controlled study including 119 patients aged 20-38 years, undergoing intra-conjugal ...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2020.01.007
更新日期:2020-04-01 00:00:00
abstract::The dramatic increase in the incidence of high order multiple pregnancies that has occurred since the mid-1970s is due to three main factors: increasing female age at conception; increasing use of ovulation induction agents and the introduction of sophisticated assisted reproduction techniques. High order multiple pre...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/s1472-6483(10)61854-8
更新日期:2003-04-01 00:00:00
abstract:RESEARCH QUESTION:Are triglyceride fatty acids in the follicular fluid associated with either follicular fluid phospholipid fatty acids or IVF outcomes and, if so, how are they associated? DESIGN:In a prospective cross-sectional study, 70 women undergoing intracytoplasmic sperm injection were recruited. Follicular flu...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2020.09.024
更新日期:2020-10-04 00:00:00
abstract::Multifetal pregnancy reduction (MPR) is an accepted method of reducing complications of triplet pregnancies and higher-order multifetal pregnancies. Eighty-three pregnancies that underwent early (68 weeks) transvaginal MPR were compared with 125 pregnancies that underwent late (11-14 weeks) transabdominal MPR. Rates o...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2016.08.015
更新日期:2016-11-01 00:00:00
abstract::Worldwide, oocyte donors donate voluntarily or receive varying amounts of money for donation. This raises ethical questions regarding the appropriateness of financial compensation, and the possibility of undue inducement and exploitation of oocyte donors. Are these donors capable of making an independent, well-conside...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2017.05.002
更新日期:2017-08-01 00:00:00
abstract::Artificial oocyte activation using Ca(2+)ionophores or similar compounds is a widely applied technique in IVF laboratories. This is all the more interesting as most of the agents aiming for intracellular Ca(2+) increase do not result in physiological Ca(2+) oscillations but much rather cause a single Ca(2+) transient....
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2015.12.004
更新日期:2016-03-01 00:00:00
abstract::The aim of this study was to evaluate the impact of gonadotrophin therapy in combination with intracytoplasmic sperm injection (ICSI) in men with hypogonadotrophic hypogonadism (HH). Twenty-five azoospermic men were diagnosed with HH due to low FSH, LH and total testosterone concentrations. These patients were treated...
journal_title:Reproductive biomedicine online
pub_type: 临床试验,杂志文章
doi:10.1016/s1472-6483(10)60703-1
更新日期:2007-08-01 00:00:00
abstract::Myomectomy is the most frequent reproductive surgery to preserve, improve fertility, or both. The present study was designed to assess the safety and efficacy of minilaparotomy for myomectomy through a systematic review of randomized and non-randomized controlled trials with a meta-analysis. All available studies comp...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章,meta分析,评审
doi:10.1016/j.rbmo.2015.01.013
更新日期:2015-05-01 00:00:00
abstract::The International Society for Mild Approaches in Assisted Reproduction (ISMAAR) is founded to promote a more physiological, less drug-oriented, lower risk, less expensive and more patient friendly approach to Assisted Reproduction embracing not only natural cycle treatment but also gentle stimulation protocols and in-...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/s1472-6483(10)61043-7
更新日期:2007-05-01 00:00:00