Mutations in HOXA11 are not responsible for Müllerian duct anomalies in Chinese patients.

Abstract:

:As a member of the homeobox (HOX) gene family, HOXA11 is expressed in the primordia of lower uterus and cervix during fetal life and is essential for endometrial development and embryo implantation in the adults. The aim of the present study was to investigate whether mutations in HOXA11 contribute to Müllerian duct anomalies (MDA) in Chinese. A cohort of 192 patients with MDA and 192 healthy controls was enrolled. Genomic DNA was extracted. All exons and exon-intron boundaries were amplified and sequenced. One novel synonymous variant (c.774G>A) and one known single-nucleotide polymorphism were identified, both of which were not found in the matched controls. The results suggest that mutations in the coding region of HOXA11 are not common in Chinese women with MDA. As a member of the homeobox gene family, HOXA11 is expressed in the primordia of lower uterus and cervix during fetal life and is essential for endometrial development and embryo implantation in the adults. The aim of the present study was to investigate whether mutations in HOXA11 contribute to Müllerian duct anomalies (MDA) in Chinese. A cohort of 192 patients with MDA and 192 healthy controls was enrolled. Genomic DNA was extracted. All exons and exon-intron boundaries were amplified and sequenced. One novel synonymous variant (c.774G>A) and one known single-nucleotide polymorphism were identified, both of which were not found in the matched controls. The results suggest that mutations in the coding region of HOXA11 are not common in Chinese women with MDA.

journal_name

Reprod Biomed Online

authors

Chen X,Li G,Qin Y,Cui Y,You L,Chen ZJ

doi

10.1016/j.rbmo.2014.01.018

subject

Has Abstract

pub_date

2014-06-01 00:00:00

pages

739-42

issue

6

eissn

1472-6483

issn

1472-6491

pii

S1472-6483(14)00075-3

journal_volume

28

pub_type

杂志文章
  • Stem cell therapeutic possibilities: future therapeutic options for male-factor and female-factor infertility?

    abstract::Recent advances in assisted reproduction treatment have enabled some couples with severe infertility issues to conceive, but the methods are not successful in all cases. Notwithstanding the significant financial burden of assisted reproduction treatment, the emotional scars from an inability to conceive a child enacts...

    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章,评审

    doi:10.1016/j.rbmo.2013.03.003

    authors: Easley CA 4th,Simerly CR,Schatten G

    更新日期:2013-07-01 00:00:00

  • The Bertarelli Foundation's actions in the field of multiple gestations.

    abstract::The Bertarelli Foundation aims to promote understanding of infertility. Two international conferences in 1999 and 2002 have highlighted the importance of multiple gestations, which have been recognized as a major problem associated with assisted reproductive technologies and ovulation induction therapies. For this rea...

    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章

    doi:10.1016/s1472-6483(10)62242-0

    authors: Germond M

    更新日期:2007-01-01 00:00:00

  • Effect of human embryonic morphological development on fetal growth parameters: the Rotterdam Periconceptional Cohort (Predict Study).

    abstract:RESEARCH QUESTION:Is embryonic morphological development according to the Carnegie stages associated with pregnancy outcome? DESIGN:In a tertiary hospital-based cohort, 182 singleton non-malformed pregnancies were selected. Serial transvaginal three-dimensional ultrasound (3D-US) scans were carried out between 6+0 and...

    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章

    doi:10.1016/j.rbmo.2018.12.016

    authors: Parisi F,Rousian M,Koning AHJ,Willemsen SP,Steegers EAP,Steegers-Theunissen RPM

    更新日期:2019-04-01 00:00:00

  • Intrauterine pregnancy following transperitoneal oocyte and/or sperm migration in a woman with an ectopic (undescended) ovary.

    abstract::This is the first report of an intrauterine pregnancy following timed coitus, resulting from transperitoneal sperm and/or oocyte migration as the oocyte originated from an ectopic (undescended) ovary. The patient was treated in the infertility clinic after a history of primary infertility for 2 years. Diagnosis of a m...

    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章

    doi:10.1016/s1472-6483(10)61738-5

    authors: Ombelet W,Deblaere K,Grieten M,Verswijvel G,Nijs M,Hinoul P,de Jonge E

    更新日期:2003-07-01 00:00:00

  • The role of parental microRNA alleles in recurrent pregnancy loss: an association study.

    abstract::The medical evaluation of recurrent pregnancy loss (RPL), the occurrence of two or more consecutive pregnancy losses prior to 20th week of gestation, is mainly focused on maternal factors. However, paternally expressed genes may also play a role in implantation and placenta quality. This study aimed to investigate the...

    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章

    doi:10.1016/j.rbmo.2016.12.004

    authors: Amin-Beidokhti M,Mirfakhraie R,Zare-Karizi S,Karamoddin F

    更新日期:2017-03-01 00:00:00

  • Gonadotrophins or clomiphene citrate in couples with unexplained infertility undergoing intrauterine insemination: a cost-effectiveness analysis.

    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

    authors: Danhof NA,van Wely M,Repping S,van der Ham DP,Klijn N,Janssen ICAH,Rijn-van Weert JM,Twisk M,Traas MAF,Pelinck MJ,Perquin DAM,Boks DES,Sluijmer A,Mol BWJ,van der Veen F,Mochtar MH,Amsterdam SUPER Study Group.

    更新日期:2020-01-01 00:00:00

  • Comparison of stimulated versus modified natural cycles for endometrial preparation prior to frozen embryo transfer: a randomized controlled trial.

    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

    authors: Labrosse J,Lobersztajn A,Pietin-Vialle C,Villette C,Dessapt AL,Jung C,Brussieux M,Bry-Gauillard H,Pasquier M,Massin N

    更新日期:2020-04-01 00:00:00

  • Prolonged blastomere movement induced by the delay of pronuclear fading and first cell division adversely affects pregnancy outcomes after fresh embryo transfer on Day 2: a time-lapse study.

    abstract:RESEARCH QUESTION:What is the incidence, origin and clinical significance of blastomere movement after the first cell division in the human embryo? DESIGN:A total of 1096 embryos, cultured in the EmbryoScope+ ® time-lapse system and subjected to a single fresh cleaved embryo transfer, were retrospectively analysed. Ty...

    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章

    doi:10.1016/j.rbmo.2018.12.014

    authors: Ezoe K,Ohata K,Morita H,Ueno S,Miki T,Okimura T,Uchiyama K,Yabuuchi A,Kobayashi T,Montag M,Kato K

    更新日期:2019-05-01 00:00:00

  • Effect of uterine dimensions on live birth rates after single embryo transfer in infertile women.

    abstract:RESEARCH QUESTION:Do uterine size parameters measured by baseline transvaginal ultrasound predict live birth after single embryo transfer (SET) of a high-quality blastocyst? DESIGN:Retrospective cohort study including women undergoing their first SET between August 2010 and March 2014 at a large university hospital re...

    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章

    doi:10.1016/j.rbmo.2020.07.007

    authors: Steiner N,Ates S,Shaulov T,Tannus S,Dahan MH

    更新日期:2020-10-01 00:00:00

  • Ovarian stimulation and endometriosis progression or recurrence: a systematic review.

    abstract::Available evidence on the impact of ovarian stimulation on the progression of endometriosis or its recurrence was systematically reviewed. Data from ovarian stimulation alone, or associated with intrauterine insemination (IUI) or IVF, were included. Sixteen studies were selected. Initial case reports (n = 11) document...

    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章

    doi:10.1016/j.rbmo.2018.11.021

    authors: Somigliana E,Viganò P,Benaglia L,Busnelli A,Paffoni A,Vercellini P

    更新日期:2019-02-01 00:00:00

  • GnRH antagonists and endometrial receptivity in oocyte recipients: a prospective randomized trial.

    abstract::The effect that gonadotrophin-releasing hormone (GnRH) antagonists exert on endometrial receptivity has not yet been elucidated. GnRH antagonists might directly affect oocytes, the embryo and/or the endometrium. The aim of this study was to investigate the direct effect of GnRH antagonists on the endometrium in oocyte...

    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章,随机对照试验

    doi:10.1016/s1472-6483(10)60266-0

    authors: Prapas N,Tavaniotou A,Panagiotidis Y,Prapa S,Kasapi E,Goudakou M,Papatheodorou A,Prapas Y

    更新日期:2009-02-01 00:00:00

  • An evidence-based scoring system for prioritizing mosaic aneuploid embryos following preimplantation genetic screening.

    abstract::The aim of this study was to devise an evidence-based scoring system for prioritizing mosaic aneuploid embryos for transfer. A retrospective analysis was performed of all sequential cytogenetic and molecular results on chorionic villi samples (n = 72,472) and products of conception (n = 3806) analysed at a single cent...

    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章

    doi:10.1016/j.rbmo.2018.01.005

    authors: Grati FR,Gallazzi G,Branca L,Maggi F,Simoni G,Yaron Y

    更新日期:2018-04-01 00:00:00

  • Current knowledge on natural killer cells, pregnancy and pre-eclampsia. Introduction.

    abstract::The introduction to this review discusses briefly why immunology, perceived as difficult by assisted reproduction technology clinicians, need nevertheless be envisaged as a central actor in the reproduction process, and how the maternal immune system, initially perceived as a threat to the fetoplacental unit, is in fa...

    journal_title:Reproductive biomedicine online

    pub_type:

    doi:10.1016/s1472-6483(10)60572-x

    authors: Chaouat G

    更新日期:2008-02-01 00:00:00

  • Mid-luteal progesterone concentrations are associated with live birth rates during ovulation induction.

    abstract::This retrospective study investigated whether mid-luteal serum progesterone concentrations are associated with live birth rates in women with WHO group II anovulatory infertility undergoing ovulation induction. Data were from women (n=335) stimulated with gonadotrophins using a low-dose step-up protocol, of which wome...

    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章

    doi:10.1016/j.rbmo.2011.01.006

    authors: Arce JC,Balen A,Platteau P,Pettersson G,Andersen AN

    更新日期:2011-05-01 00:00:00

  • Health of children conceived after preimplantation genetic diagnosis: a preliminary outcome study.

    abstract::A preliminary study was conducted on health of children conceived after preimplantation genetic screening and diagnosis (PGD). Forty-nine children were assessed with 66 matched naturally conceived (NC) controls. Primary outcome was neurodevelopmental screening, and secondary outcomes were evidence of other health prob...

    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章

    doi:10.1016/s1472-6483(10)60599-8

    authors: Banerjee I,Shevlin M,Taranissi M,Thornhill A,Abdalla H,Ozturk O,Barnes J,Sutcliffe A

    更新日期:2008-03-01 00:00:00

  • Different preferences for prenatal diagnosis in pregnancies following assisted reproduction versus spontaneous conception.

    abstract::The uptake of prenatal diagnosis in 436 singleton and 146 twin pregnancies following assisted reproduction was compared with a matched group of spontaneous conceptions. The first and second trimester ultrasound examination included target fetal anatomic evaluation and screening by specific markers described for fetal ...

    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章

    doi:10.1016/s1472-6483(10)60506-8

    authors: Geipel A,Berg C,Katalinic A,Ludwig M,Germer U,Diedrich K,Gembruch U

    更新日期:2004-01-01 00:00:00

  • Hyperhomocysteinemia in polycystic ovary syndrome: decreased betaine-homocysteine methyltransferase and cystathionine β-synthase-mediated homocysteine metabolism.

    abstract:RESEARCH QUESTION:What are the metabolic characteristics of homocysteine in polycystic ovary syndrome (PCOS)? DESIGN:Homocysteine concentrations were determined in serum samples from non-obese and obese control subjects and PCOS patients. Homocysteine metabolism was studied in a rat model of PCOS established using deh...

    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章

    doi:10.1016/j.rbmo.2018.05.008

    authors: Li D,Liu HX,Fang YY,Huo JN,Wu QJ,Wang TR,Zhou YM,Wang XX,Ma XX

    更新日期:2018-08-01 00:00:00

  • Analysis of 122 triplet and one quadruplet pregnancies after single embryo transfer in Japan.

    abstract:RESEARCH QUESTION:What is the prevalence of triplet and quadruplet pregnancies after single embryo transfer (SET) in Japan. DESIGN:A retrospective observational study was conducted on 274,605 pregnancies after 937,848 SET cycles in registered assisted reproductive technology (ART) data from the Japanese ART national r...

    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章

    doi:10.1016/j.rbmo.2019.11.008

    authors: Yamashita S,Ikemoto Y,Ochiai A,Yamada S,Kato K,Ohno M,Segawa T,Nakaoka Y,Toya M,Kawachiya S,Sato Y,Takahashi T,Takeuchi S,Nomiyama M,Tabata C,Fujiwara T,Okamoto S,Kawamura T,Kawagoe J,Yamada M,Sato Y,Marumo G,

    更新日期:2020-03-01 00:00:00

  • Moral attitudes and beliefs among couples pursuing PGD for sex selection.

    abstract::This article reports the results from a study of couples participating in a research protocol in which IVF/preimplantation genetic diagnosis (PGD) was available for non-medical sex selection. The study sought to characterize the moral attitudes and beliefs of couples actively pursuing IVF/PGD solely for purposes relat...

    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章

    doi:10.1016/j.rbmo.2010.09.009

    authors: Sharp RR,McGowan ML,Verma JA,Landy DC,McAdoo S,Carson SA,Simpson JL,McCullough LB

    更新日期:2010-12-01 00:00:00

  • Reproductive ageing and conflicting clocks: King Midas' touch.

    abstract::The population attempting pregnancy and having babies is ageing. Gynaecological and obstetric complications worsen with age. Maternity services are struggling. Increasing rates of infertility and complications are not matched by the marvels in the laboratory. This paper argues that assisted reproduction treatment has ...

    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章,评审

    doi:10.1016/j.rbmo.2013.09.012

    authors: Daly I,Bewley S

    更新日期:2013-12-01 00:00:00

  • Towards a more physiological approach to IVF.

    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

    authors: Nargund G,Frydman R

    更新日期:2007-05-01 00:00:00

  • Prospectively randomized controlled trial of PGS in IVF/ICSI patients with poor implantation.

    abstract::This randomized, controlled trial verifies whether patients with recurrent failed implantation benefit from preimplantation genetic diagnosis for aneuploidy, as compared with conventional assisted reproduction treatment procedures. Two hundred patients with recurrent failed implantation were randomized into two groups...

    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章,随机对照试验

    doi:10.1016/s1472-6483(10)60414-2

    authors: Blockeel C,Schutyser V,De Vos A,Verpoest W,De Vos M,Staessen C,Haentjens P,Van der Elst J,Devroey P

    更新日期:2008-12-01 00:00:00

  • Total fertilization failure and molecular abnormalities in metaphase II oocytes.

    abstract::Total fertilization failures (TFF) are rare events of IVF by intracytoplasmic sperm injection (ICSI). When male factor is excluded, the lack of identifiable aetiological criteria raises the question of the reliable clinical management. The goal of this study was to identify molecular abnormalities in metaphase II (MII...

    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章

    doi:10.1016/s1472-6483(10)60404-x

    authors: Gasca S,Reyftmann L,Pellestor F,Rème T,Assou S,Anahory T,Dechaud H,Klein B,De Vos J,Hamamah S

    更新日期:2008-12-01 00:00:00

  • Batch-to-batch consistency of human-derived gonadotrophin preparations compared with recombinant preparations.

    abstract::Different gonadotrophin preparations derived from human urine or manufactured by recombinant technology are currently used in clinical practice for the treatment of infertility. It has been widely assumed that gonadotrophin products manufactured by recombinant technology have better batch-to-batch consistency compared...

    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章

    doi:10.1016/s1472-6483(10)60819-x

    authors: Wolfenson C,Groisman J,Couto AS,Hedenfalk M,Cortvrindt RG,Smitz JE,Jespersen S

    更新日期:2005-04-01 00:00:00

  • High-dose recombinant LH add-back strategy using high-dose GnRH antagonist is an innovative protocol compared with standard GnRH antagonist.

    abstract::High daily doses of gonadotrophin-releasing hormone (GnRH) antagonists during the follicular phase of ovarian stimulation were associated with low implantation rates. To test if this occurred because of profound pituitary suppression, the pituitary response was suppressed with a high-dose GnRH antagonist and recombina...

    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章

    doi:10.1016/S1472-6483(11)60009-6

    authors: Garcia-Velasco JA,Bennink HJ,Epifanio R,Escudero E,Pellicer A,Simón C

    更新日期:2011-02-01 00:00:00

  • Ovarian reserve parameters: a comparison between users and non-users of hormonal contraception.

    abstract::It remains controversial whether anti-Müllerian hormone (AMH) concentration is influenced by hormonal contraception. This study quantified the effect of hormonal contraception on both endocrine and sonographic ovarian reserve markers in 228 users and 504 non-users of hormonal contraception. On day 2-5 of the menstrual...

    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章

    doi:10.1016/j.rbmo.2012.09.001

    authors: Bentzen JG,Forman JL,Pinborg A,Lidegaard Ø,Larsen EC,Friis-Hansen L,Johannsen TH,Nyboe Andersen A

    更新日期:2012-12-01 00:00:00

  • FMR1 and AKT/mTOR signalling pathways: potential functional interactions controlling folliculogenesis in human granulosa cells.

    abstract::Granulosa cells (GCs) play a major role in folliculogenesis and are crucial for oocyte maturation and growth. In these cells, the mTOR/AKT signalling pathway regulates early folliculogenesis by maintaining the dormancy of primordial follicles, while FSH induces their further differentiation and maturation. Because cha...

    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章

    doi:10.1016/j.rbmo.2017.07.016

    authors: Rehnitz J,Alcoba DD,Brum IS,Hinderhofer K,Youness B,Strowitzki T,Vogt PH

    更新日期:2017-11-01 00:00:00

  • Influence of endocrine disruptors on human male fertility.

    abstract::It has been suggested that during the past five decades human sperm counts have declined and the incidence of testicular cancer, hypospadias and cryptorchidism has increased. Furthermore, geographical differences, with respect to these markers of male reproductive function, have been reported. According to a recent hy...

    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章,评审

    doi:10.1016/s1472-6483(10)60530-5

    authors: Giwercman A,Rylander L,Lundberg Giwercman Y

    更新日期:2007-12-01 00:00:00

  • N-acetylcysteine improves function and follicular survival in mice ovarian grafts through inhibition of oxidative stress.

    abstract::The effect of N-acetylcysteine (NAC) on mouse ovary heterotopic autotransplantation was investigated. Mice (age 4-5 weeks) were divided into the following groups: control; autograft plus NAC (150 mg/kg daily intraperitoneal injection) and autograft plus saline (n = 6 per group). Groups were treated from 1 day before u...

    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章

    doi:10.1016/j.rbmo.2014.09.013

    authors: Mahmoodi M,Soleimani Mehranjani M,Shariatzadeh SM,Eimani H,Shahverdi A

    更新日期:2015-01-01 00:00:00

  • Endometrial pinopodes: some more understanding on human implantation?

    abstract::Endometrial receptivity is a prerequisite for blastocyst implantation. During receptivity, the hairy-like epithelial cell microvilli transiently fuse to a single flower-like membrane projection called the 'pinopode'. Scanning electron microscopy in sequential endometrial biopsies shows that pinopodes appear about 1 we...

    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章,评审

    doi:10.1016/s1472-6483(12)60111-4

    authors: Nikas G,Aghajanova L

    更新日期:2002-01-01 00:00:00