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Article
Open AccessThe emerging and diverse roles of F-box proteins in spermatogenesis and male infertility
F-box proteins play essential roles in various cellular processes of spermatogenesis by means of ubiquitylation and subsequent target protein degradation. They are the substrate-recognition subunits of SKP1–cu...
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Article
Open AccessGDF9His209GlnfsTer6/S428T and GDF9Q321X/S428T bi-allelic variants caused female subfertility with defective follicle enlargement
Antral follicles consist of an oocyte cumulus complex surrounding by somatic cells, including mural granulosa cells as the inner layer and theca cells as the outsider layer. The communications between oocytes ...
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Article
Open AccessImpact of dehydroepiandrosterone sulfate and free androgen index on pregnancy and neonatal outcomes in PCOS patients
Polycystic ovary syndrome (PCOS) is a prevalent endocrine disorder associated with infertility and pregnancy complications. The pathogenesis of PCOS and its impact on reproductive function may be influenced by...
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Article
Open AccessClinical application of next generation sequencing-based haplotype linkage analysis in the preimplantation genetic testing for germline mosaicisms
Preimplantation genetic testing (PGT) for monogenic disorders (PGT-M) for germline mosaicism was previously highly dependent on polymerase chain reaction (PCR)-based directed mutation detection combined with l...
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Article
PGT-A improved singleton live birth rate among all age groups of women who underwent elective single blastocyst transfer: a single-centre retrospective study
This study assessed the difference in singleton live birth rate (SLBR) between preimplantation genetic testing for aneuploidy (PGT-A) and non-PGT in patients undergoing elective single frozen blastocyst transf...
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Article
Bioinformatics Analysis Identifies Key Genes in Recurrent Implantation Failure Based on Immune Infiltration
Recurrent implantation failure (RIF) is a thorny problem often encountered in the field of assisted reproduction. Existing evidences suggest that immune dysregulation may be involved in the pathogenesis of RIF...
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Article
Evaluating the application value of NGS-based PGT-A by screening cryopreserved MDA products of embryos from PGT-M cycles with known transfer outcomes
To determine the application value of next-generation sequencing (NGS)-based preimplantation genetic testing for aneuploidies (PGT-A).
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Article
Differential transcriptional profiles of human cumulus granulosa cells in patients with diminished ovarian reserve
This study compared the gene expression profiles of cumulus granulosa cells in patients with diminished ovarian reserve and those with normal ovarian reserves to identify genes that may be involved in the path...
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Article
Open AccessDevelopmental mRNA m5C landscape and regulatory innovations of massive m5C modification of maternal mRNAs in animals
m5C is one of the longest-known RNA modifications, however, its developmental dynamics, functions, and evolution in mRNAs remain largely unknown. Here, we generate quantitative mRNA m5C maps at different stages o...
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Article
Open AccessEndometriosis does not seem to be an influencing factor of hypertensive disorders of pregnancy in IVF / ICSI cycles
To evaluate whether the incidence of hypertensive disorders of pregnancy (HDP) in pregnant women was related to endometriosis (EM), ovulation and embryo vitrification technology.
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Article
Long-read sequencing on the SMRT platform enables efficient haplotype linkage analysis in preimplantation genetic testing for β-thalassemia
This study aimed to evaluate the value of long-read sequencing for preimplantation haplotype linkage analysis.
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Article
Open AccessComparison of chromosomal status in reserved multiple displacement amplification products of embryos that resulted in miscarriages or live births: a blinded, nonselection case–control study
To analyze chromosomal status in reserved multiple displacement amplification (MDA) products of embryos that result in miscarriages or live births.
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Article
Open AccessThe inconsistency between two major aneuploidy-screening platforms—single-nucleotide polymorphism array and next-generation sequencing—in the detection of embryo mosaicism
In preimplantation genetic testing for aneuploidy (PGT-A), appropriate evaluation of mosaic embryos is important because of the adverse implications of transferring embryos with high-level mosaicism or discard...
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Article
Open AccessA comparative, observational study evaluating dosing characteristics and ovarian response using the recombinant human follicle-stimulating hormone pen injector with small-dose dial in assisted reproductive technologies treatment in Asia: IMPROVE study
Ovarian stimulation during medically assisted reproduction treatment should be individualized to optimize outcomes and reduce complications. This study assessed whether use of the recombinant human follicle-st...
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Article
Next-Generation Sequencing-Based Preimplantation Genetic Testing for De Novo NF1 Mutations
Neurofibroma type 1 (NFI) is an autosomal dominant genetic disease associated with cancer and cognitive dysfunction. The 50% de novo mutation rate and numerous mutation types of the NF1 gene pose challenges to pr...
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Article
Eleven healthy live births: a result of simultaneous preimplantation genetic testing of α- and β-double thalassemia and aneuploidy screening
To evaluate the efficacy of preimplantation genetic testing (PGT) for α- and β-double thalassemia combined with aneuploidy screening using next-generation sequencing (NGS).
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Article
Open AccessHBB-deficient Macaca fascicularis monkey presents with human β-thalassemia
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Article
Preimplantation Genetic Testing of Achondroplasia by Two Haploty** Systems: Short Tandem Repeats and Single Nucleotide Polymorphism
Here, we present the successful application of two different preimplantation genetic testing for monogenic diseases (PGT-M) methods for a couple facing the genetic risk of Achondroplasia (ACH). The first preim...
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Article
Genoty** single-sperm cells by universal MARSALA enables the acquisition of linkage information for combined pre-implantation genetic diagnosis and genome screening
This paper aims to investigate the feasibility of performing pre-implantation genetic diagnosis (PGD) and pre-implantation genetic screening (PGS) simultaneously by a universal strategy without the requirement...
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Article
Preliminary analysis of numerical chromosome abnormalities in reciprocal and Robertsonian translocation preimplantation genetic diagnosis cases with 24-chromosomal analysis with an aCGH/SNP microarray
The aim of this study was to determine whether an interchromosomal effect (ICE) occurred in embryos obtained from reciprocal translocation (rcp) and Robertsonian translocation (RT) carriers who were following ...
