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Akademický článek

OGM and WES identifies translocation breakpoints in PKD1 gene in an polycystic kidney patient and healthy baby delivered using PGT

Autor: Peiwen Xu, Lijuan Wang, Jing Li, Sexin Huang, Ming Gao, Ranran Kang, Jie Li, Hongqiang Xie, Xiaowei Liu, Junhao Yan, Xuan Gao, Yuan Gao

Publikováno v: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-15 (2023)

Abstract Background Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common autosomal dominant genetic diseases. Whole exome sequencing (WES) is a routine tool for diagnostic confirmation of genetic diseases, and it is usually

Externí odkaz: https://doaj.org/article/db5322f1f81a46d287c1d2f030dc70cf

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Akademický článek

A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report

Autor: Peiwen Xu, Sexing Huang, Jie Li, Yang Zou, Ming Gao, Ranran Kang, Junhao Yan, Xuan Gao, Yuan Gao

Publikováno v: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-6 (2018)

Abstract Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic renal disorder in humans, affecting 1 in 400 to 1000 individuals. Mutations PKD1 (which accounts for 85% of ADPKD and produces polycystin-1) and PKD

Externí odkaz: https://doaj.org/article/11c7de69c5eb45fdb3895400983bbc7b

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[Identification of a novel variant of NHS gene underlying Nance-Horan syndrome]

Autor: Xiaowei, Chen, Peiwen, Xu, Jie, Li, Yuping, Niu, Ranran, Kang, Yuan, Gao

Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 38(11)

To explore the genetic basis for a pedigree affected with Nance-Horan syndrome.Clinical manifestation of the patients was analyzed. Genomic DNA was extracted from peripheral blood samples of the pedigree members and 100 unrelated healthy controls. A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::92742446db146803a25a0017cdbc8bb5
https://pubmed.ncbi.nlm.nih.gov/34729747

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[Identification of a novel splicing variant of IDS gene in a pedigree affected with type II glycosaminoglycan product storage disease]

Autor: Hongqiang, Xie, Lijuan, Wang, Sexin, Huang, Jie, Li, Yang, Zou, Peiwen, Xu, Ming, Gao, Ranran, Kang, Yuping, Niu, Xiaowei, Liu, Yuan, Gao

Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 37(7)

To analyze variant of IDS gene in a pedigree affected with mucopolysaccharidosis type II (MPS II).The proband was subjected to next generation sequencing and Sanger sequencing to identify potential variants. Suspected variant was analyzed by its co-s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::dd71a1abf0fcfbcedb54dcd2b27a3b1a
https://pubmed.ncbi.nlm.nih.gov/32619248

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A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report

Autor: Sexing Huang, Ming Gao, Yuan Gao, Yang Zou, Junhao Yan, Peiwen Xu, Xuan Gao, Ranran Kang, Jie Li

Publikováno v: BMC Medical Genetics
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-6 (2018)

Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic renal disorder in humans, affecting 1 in 400 to 1000 individuals. Mutations PKD1 (which accounts for 85% of ADPKD and produces polycystin-1) and PKD2 (produc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff170a0f90f9f33a8bfe0aea30fc62d3
http://europepmc.org/articles/PMC6234645

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[Novel mutations of XPC gene detected in a family affected with xeroderma pigmentosum group C]

Autor: Lijuan, Wang, Sexin, Huang, Jie, Li, Yang, Zou, Peiwen, Xu, Ming, Gao, Ranran, Kang, Hongqiang, Xie, Xianda, Wei, Yuping, Niu, Xiaowei, Liu, Yuan, Gao

Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 35(4)

To detect mutations of the XPC (XPC complex subunit, DNA damage recognition and repair factor) gene in a family affected with xeroderma pigmentosum group C (XP-C).The patient was subjected to next-generation sequencing and Sanger sequencing. Suspecte

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::918f032a3a801a9b557d2ecb0007cc6b
https://pubmed.ncbi.nlm.nih.gov/30098252

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[Application of droplet digital PCR for non-invasive prenatal diagnosis of single gene disease in two families]

Autor: Peiwen, Xu, Yang, Zou, Jie, Li, Sexin, Huang, Ming, Gao, Ranran, Kang, Hongqiang, Xie, Lijuan, Wang, Junhao, Yan, Yuan, Gao

Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 35(2)

To assess the value of droplet digital PCR (ddPCR) for non-invasive prenatal diagnosis of single gene disease in two families.Paternal mutation in cell-free DNA derived from the maternal blood and amniotic fluid DNA was detected by ddPCR. Suspected m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::adbd6d79f42ba465f5fda5ef49f320d3
https://pubmed.ncbi.nlm.nih.gov/29652997

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[A novel mutation of GLI3 gene underlying synpolydactyly in a family]

Autor: Ranran, Kang, Sexin, Huang, Jie, Li, Yang, Zou, Peiwen, Xu, Ming, Gao, Lijuan, Wang, Hongqiang, Xie, Junhao, Yan, Yuan, Gao

Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 34(4)

To detect mutation of GLI3 gene in a family affected with autosomal dominant synpolydactyly.Genomic DNA was extracted from peripheral blood samples from members of the family and 100 unrelated healthy controls. Potential mutation was screened by next

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::92f169ce2abc67859b383e001620189c
https://pubmed.ncbi.nlm.nih.gov/28777844

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[Identification of a novel splicing mutation of PHEX gene in a pedigree affected with X-linked hypophosphatemia]

Autor: Jie, Li, Peiwen, Xu, Sexin, Huang, Ming, Gao, Yang, Zou, Ranran, Kang, Yuan, Gao

Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 34(2)

To identify potential mutation of PHEX gene in two patients from a family affected with X-linked hypophosphatemia (XLH).PCR and Sanger sequencing were performed on blood samples from the patients and 100 healthy controls. Reverse transcription-PCR (R

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::561e7a8837c0e132c00adece08b26e20
https://pubmed.ncbi.nlm.nih.gov/28397222

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[Application of droplet digital PCR technology for genetic testing and prenatal diagnosis of spinal muscular atrophy]

Autor: Yang, Zou, Peiwen, Xu, Jie, Li, Sexin, Huang, Ming, Gao, Ranran, Kang, Xuan, Gao, Yuan, Gao

Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 33(5)

To explore the clinical application of droplet digital PCR (ddPCR) for genetic testing and prenatal diagnosis of spinal muscular atrophy (SMA) with deletion of SMN1 gene exon 7.A total of 138 clinical samples, including 121 peripheral blood, 13 amnio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::35bdebfb1d9889a78e28f1491385c857
https://pubmed.ncbi.nlm.nih.gov/27577201

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