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Akademický článek

Whole-Exome Sequencing Identifies Three Novel TTN Variants in Chinese Families with Dilated Cardiomyopathy

Autor: Yi Dong, Jiao Xiao, Gaohui Cao, Jieyuan Jin, Yve Sheng, Yaqin Chen, Yadong Guo, Rong Xiang

Publikováno v: Cardiovascular Innovations and Applications, Vol 9, Iss 1, p 931 (2024)

Externí odkaz: https://doaj.org/article/dbf5bcf493a4447ba2abc21adedd28d5

Akademický článek

Identification of Arrhythmia-Associated Gene Mutations in Chinese Patients with Primary Electrical Disorders or Sudden Cardiac Death

Autor: Yuxing Liu, Yiqiao Hu, Siyuan Zhang, Yadong Guo, Yaqin Chen, Liangliang Fan, Jieyuan Jin, Rong Xiang

Publikováno v: Cardiovascular Innovations and Applications, Vol 9, Iss 1, p 966 (2024)

Background: Sudden cardiac death (SCD), unexpected death based on sudden cardiac ejection cessation, accounts for 15–20% of unnatural deaths in developed countries. Primary electrical disorders (PEDs), a group of cardiac rhythm abnormalities withou

Externí odkaz: https://doaj.org/article/e0d0469e8feb45f998d5adf57d2555a6

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Akademický článek

Case report: A novel heterozygous frameshift mutation of ACAN in a Chinese family with short stature and advanced bone age

Autor: Hao Huang, Jieyuan Jin, Rong Xiang, Xia Wang

Publikováno v: Frontiers in Genetics, Vol 14 (2023)

Short stature (OMIM: 165800) is a common pediatric disorder. Any abnormality in the cartilage formation of the growth plate can cause short stature. Aggrecan, encoded by ACAN, is an important component of the extracellular matrix. Mutations in ACAN h

Externí odkaz: https://doaj.org/article/6609cc22d73144dcb85d2cd05ea2befa

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Akademický článek

A de novo Non-sense Nuclear Factor I B Mutation (p.Tyr290*) Is Responsible for Brain Malformation and Lung Lobulation Defects

Autor: Hao Huang, Jieyuan Jin, Liping Wu, Huifen Wu, Huichun Pi, Yi Dong, Rong Xiang

Publikováno v: Frontiers in Pediatrics, Vol 10 (2022)

BackgroundNuclear factor I B (NFIB) plays an important role in regulating the transcription of multiple biological processes. Mutations in NFIB cause intellectual disability and macrocephaly. However, studies on abnormal brain and lung development ca

Externí odkaz: https://doaj.org/article/8072b354ce704d789a0d6218ace8a22b

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Akademický článek

A Novel Heterozygous Variant in F2 Gene in a Chinese Patient With Coronary Thrombosis and Acute Myocardial Infarction Leads to Antithrombin Resistance

Autor: Yi Tang, Liyang Zhang, Wenlin Xie, Jieyuan Jin, Yujiao Luo, Mingyang Deng, Zhengyu Liu, Hong Wei Pan, Yi Zhang, Zhaofen Zheng, Liang-Liang Fan

Publikováno v: Frontiers in Genetics, Vol 11 (2020)

Thrombophilia refers to a group of conditions where the blood clots more easily than normal. These blood clots can cause problems such as deep vein thrombosis or pulmonary embolism. Most kinds of mutated coagulation factors II (F2) exhibit lower proc

Externí odkaz: https://doaj.org/article/3987a4b04140444d892c983c140efc38

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Autor: Hao, Huang, Jieyuan, Jin, Liping, Wu, Huifen, Wu, Huichun, Pi, Yi, Dong, Rong, Xiang

Publikováno v: Frontiers in pediatrics. 10

Nuclear factor I B (In the present study, we enrolled a fetus with brain malformation and lung lobulation defects from China. Whole-exome sequencing (WES) was performed to detect the candidate genes and Sanger sequencing was performed for mutational

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::97798b3fd98ac19b9138714428663d8f
https://pubmed.ncbi.nlm.nih.gov/35433561

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