Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Yuqiong Chai"'
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
ObjectiveTo determine the genetic causes of monogenic inherited diseases in a couple using clinical whole exome sequencing (WES) and advise on their reproductive choices.MethodsWES was applied to a couple seeking reproductive advice, the female with
Externí odkaz:
https://doaj.org/article/441e6a0aeaf348e2ad495d5a936c1d7e
Publikováno v:
Molecular Cytogenetics, Vol 16, Iss 1, Pp 1-7 (2023)
Abstract Purpose This paper presents a report on two uncommon instances of cat eye syndrome in a Chinese family. Case presentation The proband, a 23-year-old female, exhibited a diminutive cornea and complete blindness in her right eye, and the uncor
Externí odkaz:
https://doaj.org/article/4029b2a666974cd4ba2f8b04a88297c6
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-6 (2023)
Abstract Background Waardenburg syndrome (WS) is a rare genetic disorder characterized by varying degrees of sensorineural hearing loss and accumulated pigmentation in the skin, hair and iris. The syndrome is classified into four types (WS1, WS2, WS3
Externí odkaz:
https://doaj.org/article/197a71b3e1c04f17b6000c622f603ea9
Publikováno v:
Frontiers in Genetics, Vol 14 (2024)
Background: There is a great obstacle in prenatal diagnosis of fetal anomalies due to their considerable genetic and clinical heterogeneity. Whole-exome sequencing (WES) has been confirmed as a successful option for genetic diagnosis in pediatrics, b
Externí odkaz:
https://doaj.org/article/3bff7557120649d59cef05819165c9ad
Publikováno v:
Frontiers in Cellular and Infection Microbiology, Vol 11 (2021)
BackgroundCoronavirus disease 2019 (COVID-19) has posed a great threat to global public health. There remains an urgent need to address the clinical significance of laboratory finding changes in predicting disease progression in COVID-19 patients. We
Externí odkaz:
https://doaj.org/article/fae0b7d263fd4f6a991bdf76a37a7148
Background Waardenburg syndrome (WS) is a genetic disorder that affects skin, hair, and iris pigmentation, and causes sensorineural deafness. The syndrome is classified into four types (WS1, WS2, WS3, and WS4), each with different clinical phenotypes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d41a1ef651ff0d3c5df32aeee2265cce
https://doi.org/10.21203/rs.3.rs-2637581/v1
https://doi.org/10.21203/rs.3.rs-2637581/v1
Background: Variants in the tumor suppressor gene SMARCB1 could cause different conditions. In some cases, germline and somatic variants in SMARCB1 are implemented in schwannomatosis. But the genotype and phenotype correlation for variants in SMARCB1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5a2c78a30ff9b732b0a5ff65d8ee0c8a
https://doi.org/10.21203/rs.3.rs-1157679/v1
https://doi.org/10.21203/rs.3.rs-1157679/v1
Autor:
Hongwu Bian, Muyuan Zhu, Zhongbo Zhang, Yuqiong Chai, Ning Han, Bin Bai, Jianshu Chen, Yu-Hong Zhang, Chenglong Na
Publikováno v:
Journal of the Science of Food and Agriculture. 97:122-127
High content of (1,3;1,4)-?-d-glucan in barley grains is regarded as an undesirable factor affecting malting potential, brewing yield and feed utilization. Production of thermostable bacterial (1,3;1,4)-?-glucanase in transgenic barley grain or suppl
Publikováno v:
Journal of agricultural and food chemistry. 65(25)
Vitamin E is a potent lipid-soluble antioxidant and essential nutrient for human health. Tocotrienols are the major form of vitamin E in seeds of most monocots. It has been known that homogentisate geranylgeranyl transferase (HGGT) catalyzes the comm
Autor:
Ning, Han, Chenglong, Na, Yuqiong, Chai, Jianshu, Chen, Zhongbo, Zhang, Bin, Bai, Hongwu, Bian, Yuhong, Zhang, Muyuan, Zhu
Publikováno v:
Journal of the science of food and agriculture. 97(1)
High content of (1,3;1,4)-β-d-glucan in barley grains is regarded as an undesirable factor affecting malting potential, brewing yield and feed utilization. Production of thermostable bacterial (1,3;1,4)-β-glucanase in transgenic barley grain or sup