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Article
Carrier burden of over 300 diseases in Han Chinese identified by expanded carrier testing of 300 couples using assisted reproductive technology
Expanded carrier screening (ECS) has become a common practice for identifying carriers of monogenic diseases. However, existing large gene panels are not well-tailored to Chinese populations. In this study, EC...
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Article
XCI-esca** gene KDM5C contributes to ovarian development via downregulating miR-320a
Mechanisms underlying female gonadal dysgenesis remain unclarified and relatively unstudied. Whether X-chromosome inactivation (XCI)-esca** genes and microRNAs (miRNAs) contribute to this condition is curren...
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Article
Open AccessIdentification of PKD2 mutations in human preimplantation embryos in vitro using a combination of targeted next-generation sequencing and targeted haploty**
Here, we evaluate the applicability of a new method that combines targeted next-generation sequencing (NGS) with targeted haploty** in identifying PKD2 gene mutations in human preimplantation embryos in vitro. ...
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Article
Open AccessCorrection: Corrigendum: Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease
Scientific Reports 5: Article number: 17468; published online: 03 December 2015; updated: 23 February 2016 This Article contains typographical errors in Table 2. For Family No. 19, the cDNA change ‘c.8795_8796...
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Article
Open AccessIdentification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most frequently inherited renal diseases caused by mutations in PKD1 and PKD2. We performed mutational analyses of PKD genes in 49 unrelated pati...
