Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Yuefang Liu"'
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
NEB mutation is associated with congenital nemaline myopathies. Here, we report a family with recurrent prenatal arthrogryposis. Trio whole exome sequencing (WES) disclosed three novel NEB (NM_001271208.2) variants including one paternal frameshift c
Externí odkaz:
https://doaj.org/article/4655d79e5b4a4ecd89f6a2ad0f3524ac
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
IntroductionTRIO and CNKSR2 have been demonstrated as the important regulators of RAC1. TRIO is a guanine exchange factor (GEF) and promotes RAC1 activity by accelerating the GDP to GTP exchange. CNKSR2 is a scaffold and adaptor protein and helps to
Externí odkaz:
https://doaj.org/article/d250f16de7d5447e9d3949c4bf94e7b9
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Human ciliopathies are hereditary conditions caused by variants in ciliary-associated genes. Ciliopathies are often characterized by multiple system defects. However, it is not easy to make a definite diagnosis in the prenatal period only based on th
Externí odkaz:
https://doaj.org/article/874cecb5baa0414e9d51d15bfb976843
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
Decidual natural killer (dNK) cells are the tissue-resident and major subpopulation of NK cells at the maternal-fetal interface. It has been demonstrated that dNK cells play pivotal roles in pregnancy, including keeping maternal-fetal immune toleranc
Externí odkaz:
https://doaj.org/article/7ca4bcee44264bc8af8e6297832e206e
Publikováno v:
Development (09501991); Apr2024, Vol. 151 Issue 8, p1-13, 13p
Autor:
Xiaojing, Weng, Yuefang, Liu, Yuan, Peng, Zhe, Liang, Xin, Jin, Longfei, Cheng, Huiyuan, Niu, Qiong, Pan
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 38(7)
To explore the genetic basis for a fetus with cerebellar dysplasia and widened lateral ventricles.The couple have elected induced abortion after careful counseling. Skin tissue sample from the abortus and peripheral venous blood samples from both par
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::750643e4a4dfd3d6f9e6d0a9c3252d8b
https://pubmed.ncbi.nlm.nih.gov/34247374
https://pubmed.ncbi.nlm.nih.gov/34247374
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 38(3)
To detect pathogenic variants in a pedigree affected with propionic acidemia (PA).The proband was subjected to high-throughput next-generation sequencing. Suspected variants were validated by Sanger sequencing of his family members. mRNA was extracte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::eb6d7fd0b8a2ab08e1e9177ba7e6c7b9
https://pubmed.ncbi.nlm.nih.gov/33751535
https://pubmed.ncbi.nlm.nih.gov/33751535
Background: With the development of whole-genome sequencing, small sub-chromosomal deletions and duplications could be found by non-invasive prenatal testing(NIPT). This study aimed to review the efficiency of NIPT as a screening test for aneuploidie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cd22d85da775992219ce1634293a1b20
https://doi.org/10.21203/rs.3.rs-104459/v1
https://doi.org/10.21203/rs.3.rs-104459/v1
Autor:
Yuefang, Liu, Jing, Ding, Yuan, Peng, Zhe, Liang, Nannan, Yan, Xin, Jin, Fang, Fang, Xiaojing, Weng, Qiong, Pan
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 37(4)
To analyze FOXC2 gene variant in a family affected with lymphodema-distichiasis syndrome (LDS).Peripheral blood samples were collected for the extraction of DNA and protein. Whole-exome sequencing was carried out to detect variants in the proband. Su
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7eafd1e45d0cdcc71c71d8c8e8019a64
https://pubmed.ncbi.nlm.nih.gov/32219830
https://pubmed.ncbi.nlm.nih.gov/32219830
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 37(2)
To detect potential variant in a male fetus suspected for Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate (EEC) syndrome.Peripheral blood samples of the fetus and his parents were collected for the extraction of DNA. Whole-exome sequencing was c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f5d8cd1b88ac4bcc002913fc8834a431
https://pubmed.ncbi.nlm.nih.gov/32034739
https://pubmed.ncbi.nlm.nih.gov/32034739