Zobrazeno 1 - 10
of 98
pro vyhledávání: '"Zongzhe Li"'
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-7 (2024)
Abstract Background Waardenburg syndrome type 2 (WS2) has been reported to be a rare hereditary disorder, which is distinguished by vivid blue eyes, varying degrees of hearing impairment, and abnormal pigment deposition in the skin and hair. Variants
Externí odkaz:
https://doaj.org/article/00a2eedbf731456db0f420309d6ce417
Publikováno v:
BMC Cardiovascular Disorders, Vol 21, Iss 1, Pp 1-9 (2021)
Abstract Background The bicuspid aortic valve (BAV) is prone to ascending aortic dilatation (AAD) involving both the tubular segment and the aortic root. The genetic factor was proposed as one of the most important mechanisms for AAD. We hypothesized
Externí odkaz:
https://doaj.org/article/be349da160794386be65bb7f329aec92
Autor:
Jiaqi Dai, Ke Li, Man Huang, Yang Sun, Hao Liu, Zongzhe Li, Peng Chen, Hong Wang, Dongyang Wu, Yanghui Chen, Lei Xiao, Haoran Wei, Rui Li, Liyuan Peng, Ting Yu, Yan Wang, Dao Wen Wang
Publikováno v:
Frontiers in Medicine, Vol 9 (2022)
ObjectiveALPK3 is associated with a recessive form of pediatric cardiomyopathy accompanied by musculoskeletal and craniofacial abnormalities. Heterozygous truncating variants in this gene (ALPK3tv) have recently been confirmed as a cause of autosomal
Externí odkaz:
https://doaj.org/article/f5207d1dc38d4b7caf3bf8ca16a792a1
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Abstract Background Autosomal dominant hypertension with brachydactyly type E syndrome caused by pathogenic variants in the PDE3A gene was first reported in 2015. To date, there are only a few reports of this kind of syndrome. Other patients still la
Externí odkaz:
https://doaj.org/article/df520cb3ca85499db112c9f7acffc710
Autor:
Hong Yang, Hong Wang, Zongzhe Li, Jiangtao Yan, Yu-E Song, Hesong Zeng, Xingwei He, Rui Li, Dao Wen Wang
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 8 (2022)
BackgroundCoarctation of the aorta (CoA) is a common congenital cardiovascular malformation with aortic narrowing in the region of the ligamentum arteriosum. Hypertrophic cardiomyopathy (HCM) is a primary cardiomyopathy that is characterized by left
Externí odkaz:
https://doaj.org/article/2b40664c866e4cb7b643ae840814dfa2
Autor:
Meichen Pan, Lianjie Li, Zehao Li, Shu Chen, Zongzhe Li, Yuning Wang, Henghui He, Lihua Lin, Haihao Wang, Qian Liu
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Aortic dissection (AD) is a cardiovascular disease characterized by high mortality and poor prognosis. Although FBN1 is associated with syndromic AD, its association with non-syndromic AD remains unclear. In this study, DNA samples from 90 Chinese in
Externí odkaz:
https://doaj.org/article/e326dcae46284b21a13a54c4de3bc278
Autor:
Yang Sun, Lei Xiao, Ke Li, Hong Wang, Xiuli Song, Zongzhe Li, Chenze Li, Yanghui Chen, Shiyang Li, Jin Huang, Lun Tan, Dong Hu, Ting Yu, Rui Li, Li Jin, Leming Shi, Ali J. Marian, Dao Wen Wang
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 8 (2021)
Background: Mutations in genes encoding sarcomere and cytoskeletal proteins are major causes of primary dilated cardiomyopathy (DCM). Likewise, ischemic myocardial injury is a major cause of secondary cardiac remodeling, which, in a subset, is severe
Externí odkaz:
https://doaj.org/article/bad10138f6744a2da71c9c5407334efd
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 8 (2021)
Danon disease (DD) is a rare glycogen storage lysosomal disorder caused by mutations in the LAMP2 gene. Patients with DD are usually characterized clinically by severe multisystem syndromes. We describe a specific family with a novel pathogenic splic
Externí odkaz:
https://doaj.org/article/96e1a0a8c2584826bfb9da57b4b79c13
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 10, Iss 11 (2021)
Background Aortic dissection (AD) is one of the most life‐threatening cardiovascular diseases that exhibit high genetic heterogeneity. However, it is unclear whether variants within the COL5A1 gene can cause AD. Therefore, we intend to determine wh
Externí odkaz:
https://doaj.org/article/fe6bb0b175a3488ea87a7168b8b680f7
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)
Abstract Background Hereditary sensory and autonomic neuropathy (HSAN) type II is a group of extremely rare autosomal recessive neurological disorders with heterogeneous clinical and genetic characteristics. Methods We performed high-depth next-gener
Externí odkaz:
https://doaj.org/article/ea779dcf649446598b1b3ab0b39f9daa