Abstract：
PURPOSE:To investigate the potential etiologies of premature ovarian insufficiency (POI) and diminished ovarian reserve (DOR). METHODS:Fourteen women with sporadic POI and 6 women with DOR were enrolled. We used whole-exome sequencing (WES) and bioinformatics analysis to identify variants in a subset of 599 selected POI candidate genes. The identified genes were subjected to gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment and protein-protein interaction (PPI) network analyses to uncover key genes and pathways. RESULTS:Among the 20 patients, 79 heterozygous variants were detected in 49 genes, which were classified as "likely pathogenic" or "variants of uncertain significance" according to the guidelines of the American College of Medical Genetics and Genomics. Most patients (17/20) carried two or more variants. Monoacylglycerol O-acyltransferase 1 mutations were found in six patients, and cytochrome P450 family 26 subfamily B member 1 and Bardet-Biedl syndrome 9 mutations were each found in four patients. Some variants were shared between DOR and POI. Enrichment analyses showed that the identified genes participate in key ovarian processes, such as follicular development, gonadal development, meiosis, Fanconi anemia, homologous recombination, and transforming growth factor β signaling. A PPI network revealed interactions between these proteins. CONCLUSION:Premature ovarian function decline may be polygenic, and overlap exists between the genetic backgrounds of DOR and POI. WES and in silico analyses may be a useful clinical tool for etiological diagnosis and risk prediction for high-risk women in the future.
journal_name
J Assist Reprod Genetjournal_title
Journal of assisted reproduction and geneticsauthors
Tang R,Yu Qdoi
10.1007/s10815-020-01919-ysubject
Has Abstractpub_date
2020-10-01 00:00:00pages
2487-2502issue
10eissn
1058-0468issn
1573-7330pii
10.1007/s10815-020-01919-yjournal_volume
37pub_type
杂志文章abstract：PURPOSE:To study the presence and distribution of genes encoding free radical scavengers in human granulosa cells from primordial and primary ovarian follicles. METHODS:A class comparison study on existing granulosa cell transcriptome from primordial (n = 539 follicles) and primary (n = 261) follicles donated by three...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-018-1240-3
更新日期：2018-10-01 00:00:00
abstract：PURPOSE:In a preimplantation genetic diagnosis for aneuploidy (PGD-A) program, the more embryos available for biopsy, consequently increases the chances of obtaining euploid embryos to transfer. The aim was to increase the number of viable euploid blastocysts in patients undergoing PGD-A using fresh oocytes together wi...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-016-0868-0
更新日期：2017-04-01 00:00:00
abstract：PURPOSE:To demonstrate that a euploid embryo derived from an oocyte with reciprocal aneuploid polar bodies is capable of producing a chromosomally normal child. METHODS:A case report of maternal MI error compensation where single nucleotide polymorphism (SNP) microarray based comprehensive chromosome screening (CCS) w...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-012-9746-6
更新日期：2012-06-01 00:00:00
abstract：PURPOSE:Frozen embryo transfer has been established as an indispensable ART procedure for both the effective use of surplus embryos and the prevention of ovarian hyperstimulation syndrome. The frequency of frozen embryo transfer is increasing in our clinic, and we report that frozen embryo transfer is effective for pat...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-008-9275-5
更新日期：2008-11-01 00:00:00
abstract：PURPOSE:This study investigates the relationship between human tubal epithelial cell growth characteristics and mouse embryonic development to determine which cellular requirements should be preferentially provided in a coculture system. METHODS:Cell growth and viability were assessed for 5 days in alpha-minimal essen...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/BF02066176
更新日期：1996-05-01 00:00:00
abstract：PURPOSE:Our purpose was to show that fertilization of oocytes can be obtained solely by laser light-mediated manipulation of gametes. METHOD:A small channel was drilled into the zona pellucida of bovine oocytes using an ultraviolet (UV)-laser microbeam. Highly diluted cattle sperm were not able to fertilize the laser ...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/BF02065947
更新日期：1996-03-01 00:00:00
abstract：PURPOSE:To investigate two of the most studied estrogen receptor alpha polymorphisms (PvuII and XbaI) in combination, in order to evaluate their impact on an ART program outcome. METHODS:203 normally ovulating women who underwent IVF or ICSI treatment were genotyped for PvuII and XbaI polymorphisms in ESR1 intron 1 us...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-013-9971-7
更新日期：2013-04-01 00:00:00
abstract：PURPOSE:The aim of this study was to investigate whether polymorphisms in the tissue inhibitor of metalloproteinase 3 gene (TIMP3) are associated with the risk of preeclampsia (PE) in Han Chinese women. METHODS:Nine single TIMP3 tag-single nucleotide polymorphisms were selected by Haploview and genotyped using the Seq...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-015-0529-8
更新日期：2015-10-01 00:00:00
abstract：PURPOSE:Although ovarian tissue transportation has been validated for up to 24 h, there is no standard protocol to date. We aimed to elucidate how existing media currently used for ovarian tissue transportation affect ovarian tissue metabolism and cell viability. METHODS:Cow ovarian fragments were immersed in 0.9% NaC...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-020-01935-y
更新日期：2020-10-01 00:00:00
abstract：:Morphologic studies of the endometrium have demonstrated that varying the duration of an artificial follicular phase (AFP) in women with ovarian failure did not adversely affect its developmental capacity. The aim of this study was to evaluate whether such manipulations of endometrial stimulation could influence the p...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/BF01203817
更新日期：1992-06-01 00:00:00
abstract：PURPOSE:To evaluate the efficacy of preimplantation genetic testing (PGT) for α- and β-double thalassemia combined with aneuploidy screening using next-generation sequencing (NGS). METHODS:An NGS-based PGT protocol was performed between 2017 and 2018 for twelve couples, each of which carried both α- and β-thalassemia ...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-020-01732-7
更新日期：2020-03-01 00:00:00
abstract：PURPOSE:To evaluate the association of objectively measured physical activity (PA) and sedentary behaviour before and during in vitro fertilization (IVF) with controlled ovarian stimulation (COS) and pregnancy outcomes. METHODS:This longitudinal study involved 107 infertile women undergoing IVF treatment. PA and seden...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-020-01864-w
更新日期：2020-08-01 00:00:00
abstract：PURPOSE:Our purpose was (a) to investigate relationships of baseline endocrine serum levels with selected assisted reproduction (AR) parameters and (b) to evaluate the clinical applicability of an immunofluorometric assay (IFMA) as an alternative to a radioimmunoassay (RIA). METHODS:Basal endocrine values (analyzed by...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/BF02212926
更新日期：1995-04-01 00:00:00
abstract：PURPOSE:Our purpose was to determine if controlled ovarian hyperstimulation adversely affects implantation. METHODS:A retrospective comparison of pregnancy rates (PRs) and implantation rates was made between oocyte recipients versus their donors, who shared half of the retrieved oocytes, and regular patients undergoin...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1023/a:1020565408018
更新日期：1999-09-01 00:00:00
abstract：OBJECTIVE:Our purpose was to assess and clarify the mechanism of whether an early progesterone rise in cycles with gonadotropin-releasing hormone agonist (GnRH-a) is associated with an impairment of IVF outcome. METHODS:Seven hundred eighty-six cycles were induced with GnRH-a and human menopausal gonodotropin (hMG) ("...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/BF02065937
更新日期：1996-03-01 00:00:00
abstract：PURPOSE:Embryo cryopreservation after triggering oocyte maturation with GnRH agonist (GnRHa) in GnRH antagonist protocols has been proposed to prevent ovarian hyperstimulation syndrome (OHSS). However, a small percentage of patients still developed severe OHSS. The purpose of the study was to investigate the efficacy o...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-013-9997-x
更新日期：2013-06-01 00:00:00
abstract：PURPOSE:Because the availability of prophase oocytes for zona binding testing is limited, we compared sperm binding to the zona of failed-fertilized intracytoplasmic sperm injection (ICSI) and in vitro fertilization (IVF) oocytes after incubation in a standard IVF medium and a specially composed binding improvement med...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1023/a:1022541511875
更新日期：1999-01-01 00:00:00
abstract：PURPOSE:Assessment of sperm morphology has been reconsidered since 2001 with the development of motile sperm organelle morphology examination (MSOME). This observation technique that combines high magnification microscopy and the Nomarski interference contrast makes it possible to select spermatozoa with as few vacuole...
journal_title：Journal of assisted reproduction and genetics
pub_type： 临床试验,杂志文章
doi：10.1007/s10815-015-0645-5
更新日期：2016-03-01 00:00:00
abstract：:The study aims to discuss the effects of aging on the male reproductive system. A systematic review was performed using PubMed from 1980 to 2014. Aging is a natural process comprising of irreversible changes due to a myriad of endogenous and environmental factors at the level of all organs and systems. In modern life,...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章,评审
doi：10.1007/s10815-016-0663-y
更新日期：2016-04-01 00:00:00
abstract：PURPOSE:The synchronized development of a viable embryo and a receptive endometrium is critical for successful implantation to take place. The aim of this paper is to review current thinking about the importance of embryo-endometrial synchrony in in vitro fertilization (IVF). METHODS:Detailed review of the literature ...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章,评审
doi：10.1007/s10815-016-0773-6
更新日期：2016-11-01 00:00:00
abstract：PURPOSE:The aim of the study was to assess cytogenetic and embryoscopic characteristics in subsequent miscarriages of spontaneous pregnancy losses (SPL) and recurrent pregnancy losses (RPL). METHODS:A retrospective cohort of 75 women was affected by repeated pregnancy loss. Of those, 34 had SPL, 24 primary RPL, and 17...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-018-1226-1
更新日期：2018-08-01 00:00:00
abstract：PURPOSE:Retinal pigment epithelium cells derived from human embryonic stem cells (ESCs) could be useful for restoring retinal function in age-related macular degeneration. However the use of non-human feeder cells to support the growth of ESCs for clinical applications raises the concern of possible contamination becau...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-012-9802-2
更新日期：2012-08-01 00:00:00
abstract：PURPOSE:In in vitro maturation (IVM) cycles primed with human chorionic gonadotropin (hCG), both immature and mature oocytes are retrieved from antral follicles sized 8-12 mm. Using time-lapse microscopy, we compared the morphokinetic behavior of embryos developed from oocytes matured in vivo and in vitro, testing the ...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-015-0625-9
更新日期：2016-02-01 00:00:00
abstract：PURPOSE:The number of women attempting to conceive between the ages of 36 and 44 has increased significantly in the last decade. While it is well established that women's reproductive success dramatically declines with age, the underlying physiological changes responsible for this phenomenon are not well understood. Wi...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章,评审
doi：10.1007/s10815-011-9588-7
更新日期：2011-09-01 00:00:00
abstract：PURPOSE:Polycystic ovary syndrome (PCOS) is a common endocrine disorder disease among women in reproductive-age. Since follicle stimulating hormone (FSH) exerts important biological functions, the association between PCOS and FSH receptor (FSHR) polymorphisms attracts wide attention. The aim of this study was to evalua...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-013-0166-z
更新日期：2014-03-01 00:00:00
abstract：PURPOSE:A large part of infertility treatment involves the use of exogenous gonadotropins. The last decade has seen a progressive switch from human menopausal gonadotropin (hMG), the original gonadotropin product, to progressively more costly products, primarily or exclusively containing follicle-stimulating hormone (F...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1023/a:1009477523136
更新日期：2000-10-01 00:00:00
abstract：PURPOSE:The purpose of this study was to examine the biological variability of follicular fluid (FF) high density lipoprotein (HDL) particle components measured in ipsilateral ovarian follicles. METHODS:We collected FF from two ipsilateral follicles among six women undergoing in vitro fertilization (IVF). We measured ...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-016-0648-x
更新日期：2016-03-01 00:00:00
abstract：PURPOSE:To ascertain possible cell damage from cryopreservation, the ultrastructure of human oocytes cryopreserved by slow cooling was assessed. MATERIALS AND METHODS:Cryopreservation was performed through two protocols with one-step or two-step propanediol. Fresh control oocytes were examined for comparison. Samples ...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-010-9394-7
更新日期：2010-04-01 00:00:00
abstract：PURPOSE:To establish a ratio of the P level to the number of follicles (P/F ratio) on the day of human chorionic gonadotropin (hCG) administration and to evaluate whether this ratio is associated with in vitro fertilization (IVF) outcome. METHODS:This study was conducted between January 2012 and June 2013. A total of ...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-015-0487-1
更新日期：2015-06-01 00:00:00
abstract：PURPOSE:To report on successful birth after the transfer of postthawed human zygotes that were vitrified using a conventional straw for the purpose of protecting them from infections and a low-toxicity cryoprotectant that is commercially sold. METHODS:A primary infertile couple presented at our IVF program. After bein...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-005-0818-8
更新日期：2005-01-01 00:00:00
