Výsledky vyhledávání - "Zongrui Shen"

Akademický článek

Identification of a novel nonsense mutation in α-galactosidase A that causes Fabry disease in a Chinese family

Autor: Yushi Peng, Meize Pan, Yuchen Wang, Zongrui Shen, Jian Xu, Fu Xiong, Hongbo Xiao, Yun Miao

Publikováno v: Renal Failure, Vol 46, Iss 2 (2024)

Fabry disease, a lysosomal storage disease, is an uncommon X-linked recessive genetic disorder stemming from abnormalities in the alpha-galactosidase gene (GLA) that codes human alpha-Galactosidase A (α-Gal A). To date, over 800 GLA mutations have b

Externí odkaz: https://doaj.org/article/54d0a06e5b9743b185c05bff95349b32

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Akademický článek

Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis

Autor: Jianfan Chen, Xueqing Xu, Song Chen, Ting Lu, Yingchun Zheng, Zhongzhi Gan, Zongrui Shen, Shunfei Ma, Duocai Wang, Leyi Su, Fei He, Xuan Shang, Huiyong Xu, Dong Chen, Leitao Zhang, Fu Xiong

Publikováno v: International Journal of Oral Science, Vol 15, Iss 1, Pp 1-13 (2023)

Abstract Hereditary gingival fibromatosis (HGF) is a rare inherited condition with fibromatoid hyperplasia of the gingival tissue that exhibits great genetic heterogeneity. Five distinct loci related to non-syndromic HGF have been identified; however

Externí odkaz: https://doaj.org/article/b142ff70f95d4a56b3b3ee80a1c70339

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Akademický článek

The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene

Autor: Qi Liu, Zongrui Shen, Hong Pan, Shunfei Ma, Fu Xiong, Fei He

Publikováno v: Frontiers in Pediatrics, Vol 11 (2023)

Gaucher disease (GD, ORPHA355) is a rare autosomal recessive genetic disease caused by mutations in GBA1, which encodes the lysosomal enzyme glucocerebrosidase (GCase). Here, we report a patient with GD who carried the heterozygous c.1240G > C (p.Val

Externí odkaz: https://doaj.org/article/09888f282fdd45bf8c1b0613374dbd58

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Molecular and phenotype characterization of an elongated β‐globin variant produced by HBB:C.313delA

Autor: Zongrui Shen, Jinquan Lao, Wan Ying Lin, Xiang Qu, Qianqian Zhang, Jie Yang, Liuyuan Wei, Qi Wang, Xiangmin Xu, Yuhao Qiu

Publikováno v: International Journal of Laboratory Hematology. 43:1620-1627

Introduction β-thalassemia is a severe hereditary hemolytic anemia. Due to the diversity of mutations spectrum, β-thalassemia manifests a highly heterogeneous clinical severity. We noted that a previous report characterized HBB:c.313delA, at the en

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05761b250175b49ec3d9a9a8121e9b53
https://doi.org/10.1111/ijlh.13639

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