11 Result(s)
within
Feiyang Diao
English
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Article
Open AccessComprehensive analysis of genomic complexity in the 5’ end coding region of the DMD gene in patients of exons 1–2 duplications based on long-read sequencing
Dystrophinopathies are the most common X-linked inherited muscle diseases, and the disease-causing gene is DMD. Exonic duplications are a common type of pathogenic variants in the DMD gene, however, 5’ end exonic...
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Article
Open AccessLarge-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects
Oocyte maturation arrest and early embryonic arrest are important reproductive phenotypes resulting in female infertility and cause the recurrent failure of assisted reproductive technology (ART). However, the...
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Mutations in PLCZ1 induce male infertility associated with polyspermy and fertilization failure
To investigate the genetic causes of polyspermy and total fertilization failure (TFF) in two independent male patients suffering from male infertility.
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Article
Leukocyte telomere length in children born following blastocyst-stage embryo transfer
Perinatal and childhood adverse outcomes associated with assisted reproductive technology (ART) has been reported, but it remains unknown whether the initial leukocyte telomere length (LTL), which is an indica...
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Article
The piRNA pathway is essential for generating functional oocytes in golden hamsters
Piwi-interacting RNAs (piRNAs) are predominantly expressed in germ cells and function in gametogenesis in various species. However, Piwi-deficient female mice are fertile and mouse oocytes express a panel of smal...
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Article
Association of assisted reproductive technology, germline de novo mutations and congenital heart defects in a prospective birth cohort study
Emerging evidence suggests that children conceived through assisted reproductive technology (ART) have a higher risk of congenital heart defects (CHDs) even when there is no family history. De novo mutation (D...
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Genetic etiologic analysis in 74 Chinese Han women with idiopathic premature ovarian insufficiency by combined molecular genetic testing
To identify the disease-causing genes of Chinese Han women with idiopathic premature ovarian insufficiency (POI).
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Novel mutations in LHCGR (luteinizing hormone/choriogonadotropin receptor): expanding the spectrum of mutations responsible for human empty follicle syndrome
To screen novel mutations in LHCGR responsible for empty follicle syndrome and explore the pathological mechanism of mutations.
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Open AccessEffect of endometrial thickness and embryo quality on live-birth rate of fresh IVF/ICSI cycles: a retrospective cohort study
Successful implantation and delivery require both the functional embryo and receptive endometrium in assisted reproductive technology (ART) cycles. However, little is known about embryo-endometrial interaction...
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In vitro testicular organogenesis from human fetal gonads produces fertilization-competent spermatids
Unlike most organs that mature during the fetal period, the male reproductive system reaches maturity only at puberty with the commencement of spermatogenesis. Robust modelling of human testicular organogenesi...
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Open AccessSET protein up-regulated testosterone production in the cultured preantral follicles
We found previously that the expression of SET gene was up-regulated in polycystic ovaries. Evidences suggested that SET protein was essential for regulating both the promoter activity of CYP17A1 and the biolo...
