Zobrazeno 1 - 10
of 20
pro vyhledávání: '"hunjin Luo"'
Autor:
Hunjin Luo, Jiqing Wang, Junfeng Chen, Huijian Yi, Xiaodong Yang, Yao Peng, Liu Ni, Yi-Qiong Yang, Xiao-Min Zhang, Hongping Huang
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Background and aims: Defective enzymes, cofactors, or transporters of metabolic pathways cause inherited metabolic disorders (IMDs), a group of genetic disorders. Several IMDs have serious consequences for the affected neonates. Newborn screening for
Externí odkaz:
https://doaj.org/article/d2cf0f4ff5184dcf91ad6f3d9aabbb7b
Autor:
Hunjin Luo, Liu Ni, Yi-Qiong Yang, Xiao-Min Zhang, Hongping Huang, Sainan Tan, Chen Ling, Li Liang, Ling Wang, Tang Dan, Shu-Xiang Zhou, Chunliu Yang
Publikováno v:
Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-6 (2022)
Abstract Background Ring chromosomes can be formed by terminal breaks of two arms of a chromosome and their rejoining, leading to a loss of genetic material. They may also be formed by telomere-telomere fusions with no deletion, resulting in the form
Externí odkaz:
https://doaj.org/article/8c62a3ff8cf74aceafeee42784a9cbe0
Publikováno v:
Case Reports in Genetics, Vol 2021 (2021)
Background. Spastic paraplegia type 4 (SPG4) is the most common type of hereditary spastic paraplegia (HSP) caused by mutations in the SPAST gene. Case Presentation. We report the case of a 27-year-old pregnant Chinese woman with HSP in whom we ident
Externí odkaz:
https://doaj.org/article/c491d2225cc34289ae199cd6271a25d0
Autor:
Xueping Wang, Yalan Liu, Hongsheng Chen, Lingyun Mei, Chufeng He, Lu Jiang, Zhijie Niu, Jie Sun, Hunjin Luo, Jiada Li, Yong Feng
Publikováno v:
PLoS ONE, Vol 10, Iss 11, p e0143142 (2015)
TYR, DCT and MITF are three important genes involved in maintaining the mature phenotype and producing melanin; they therefore participate in neural crest cell development into melanocytes. Previous studies have revealed that the Wnt signaling factor
Externí odkaz:
https://doaj.org/article/3d015e21cc584554b2ea2a97041e1981
Autor:
Hua, Zhang, Jiada, Li, Hunjin, Luo, Hongsheng, Chen, Lingyun, Mei, Chufeng, He, Lu, Jiang, Yong, Feng *
Publikováno v:
In Journal of Otology December 2013 8(2):97-103
Autor:
hunjin Luo, Sainan Tan, Wenying Li, Shu-Xiang Zhou, Liu Ni, Yi-Qiong Yang, Xiao-Min Zhang, Pinghong Huang, Huijian Yi, Xiaodong Yang
Thalassemia is a well-understood genetic disorder, and routine genetic tests typically cover 95% of known genetic mutations. Discordance between the clinical phenotype and genotypes suggest that expanded genetic studies should be performed to look fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f55a5e9cc5766c34e38cdfb1c6a67c8b
https://doi.org/10.22541/au.165500141.10145919/v1
https://doi.org/10.22541/au.165500141.10145919/v1
Publikováno v:
Gene Reports. 24:101282
Metachromatic leukodystrophy (MLD) is a rare autosomal recessive lysosomal storage disease caused by a deficiency of the enzyme arylsulfatase A (ARSA), which is encoded by the ARSA gene. Mutations discovered in the ARSA gene continuously improve our
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::01c2af6cb8ccf91be299f6336df81ab5
https://doi.org/10.1016/j.genrep.2021.101282
https://doi.org/10.1016/j.genrep.2021.101282
Autor:
Ruizhi Zheng, Fang Jiang, Yaguang Zhao, Jie Li, Hunjin Luo, Jia-Da Li, Jiayu Wu, Dan-Na Chen, Xiao-Tao Zhou
Publikováno v:
Gene. 621:1-4
Kallmann syndrome (KS) is characterized by isolated hypogonadotropic hypogonadism (IHH) with anosmia. Fibroblast growth factor receptor 1 (FGFR1) is one of KS-associated genes, accounts for approximately 10% of total patients. FGFR1 mutations have al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08c233ac94f71383ee66dcf24b6693e4
https://doi.org/10.1016/j.gene.2017.04.017
https://doi.org/10.1016/j.gene.2017.04.017
Autor:
Jia-Da Li, Lingyun Mei, Zi-Qi Hao, Jie Sun, Yong Feng, Hunjin Luo, Chufeng He, Xueping Wang, Yalan Liu, Zhijie Niu, Hongsheng Chen
Publikováno v:
Journal of Human Genetics
Waardenburg syndrome (WS) is an autosomal dominant inherited neurogenic disorder with the combination of various degrees of sensorineural deafness and pigmentary abnormalities affecting the skin, hair and eye. The four subtypes of WS were defined on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9dbc08fa9b9df695e5eb50199b1e6e4a
https://doi.org/10.1038/jhg.2017.30
https://doi.org/10.1038/jhg.2017.30
Autor:
Shuxiang, Zhou, Bingwen, Song, Ni, Liu, Sainan, Tan, Yiqiong, Yang, Xiaomin, Zhang, Hunjin, Luo
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 36(9)
To explore the genetic basis for a patient with autism.High-throughput sequencing was carried out to detect copy number variations in the patient.DNA sequencing found that the patient has carried a 0.11 Mb deletion in distal 2p16.3 spanning from geno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::798e6501c229fc1f411e6d76cab28688
https://pubmed.ncbi.nlm.nih.gov/31515794
https://pubmed.ncbi.nlm.nih.gov/31515794