Zobrazeno 1 - 10
of 1 359
pro vyhledávání: '"Fu Xiong"'
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-13 (2024)
Abstract Background Alport syndrome (AS) is an inherited nephropathy caused by mutations in the type IV collagen genes. It is clinically characterized by damage to the eyes, ears and kidneys. Diagnosis of AS is hampered by its atypical clinical pictu
Externí odkaz:
https://doaj.org/article/283f0dd7decc4dab9d37f2359fa94223
Autor:
Jingyu Gao, Yongzhang Wu, Jieming Yu, Yinbin Qiu, Tiantian Yi, Chaochao Luo, Junxiao Zhang, Gary Lu, Xu Li, Fu Xiong, Xuedong Wu, Xinghua Pan
Publikováno v:
Cancer Medicine, Vol 13, Iss 13, Pp n/a-n/a (2024)
Abstract Background Germline mutations have been identified in a small number of hereditary cancers, but the genetic predisposition for many familial cancers remains to be elucidated. Methods This study identified a Chinese pedigree that presented di
Externí odkaz:
https://doaj.org/article/9919f1d1895e40e4a78629c75d3d20dc
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 11 (2024)
Primary cardiac angiosarcoma is a rare malignant soft-tissue sarcoma derived from vascular endothelial cells or lymphatic endothelial cells, with a high malignancy, poor prognosis, and a lack of effective medical therapy. This article reports on two
Externí odkaz:
https://doaj.org/article/2935b5f89d864ba18ffa506886036cef
Autor:
Shuyao Zhu, Qi Hu, Yunxia Yang, Hui Zhu, Jin Wang, Zemin Luo, Mincai Ou, Ai Chen, Yu Huang, Fu Xiong, Jiaji Zhou, Jinglin Liu, Xunming Lei, Lan Zeng
Publikováno v:
Heliyon, Vol 10, Iss 5, Pp e27050- (2024)
Background: Tetrahydrobiopterin (BH4) deficiency is a rare cause of hyperphenylalaninemia (HPA). The incidence of this condition varies based on region and ethnicity. In the early stages, patients typically do not exhibit any symptoms, and HPA is ide
Externí odkaz:
https://doaj.org/article/68fe9169864d46c59c9e2a626e3fe393
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
Autor:
Yong Zhang, Qi Jiang, Yuan Yuan, Yi Zhao, Na Chen, Yawen Li, Hui Peng, Junping Liu, Yanli Li, Jing Wei, Fu Xiong, Huimin Zhang, Yanhong Liu, Guochang Xue, Huali Zhang, Xuexing Ding, Changlin Wang, Huili Yan, Mingxing Ren, Chaoying Ma, Hanming Lu, Ruifeng Meng, Lingjun Xie, Xiufang Cheng, Jiaojiao Wang, Xiaohong Xin, Ruifen Wang, Guijuan Liang, Yuanzheng Li, Jianing Kang, Yinying Zhang, Yinglin Su, Shengjie Duan, Qingsheng Liu
Publikováno v:
BMJ Paediatrics Open, Vol 7, Iss 1 (2023)
Background Since most infants are usually discharged before age 48–72 hours, peak bilirubin levels will almost always occur after discharge. Parents may be the first to observe the onset of jaundice after discharge, but visual assessment is unrelia
Externí odkaz:
https://doaj.org/article/eb52cd3dfd8c40a9ac5f4e7e34076ae3
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
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-10 (2022)
Abstract Background Renal–hepatic–pancreatic dysplasia type 1 (RHPD1) is a rare sporadic and autosomal recessive disorder with unknown incidence. RHPD1 is caused by biallelic pathogenic variants in NPHP3, which encode nephrocystin, an important c
Externí odkaz:
https://doaj.org/article/77c0704db6684af3b8e17dda6e39f462
Autor:
Yusheng Guo, Yanqiao Ren, Lei Chen, Tao Sun, Weihua Zhang, Bo Sun, Licheng Zhu, Fu Xiong, Chuansheng Zheng
Publikováno v:
BMC Cancer, Vol 22, Iss 1, Pp 1-8 (2022)
Abstract Purpose To evaluate the efficacy and safety of transarterial chemoembolization (TACE) combined with camrelizumab (hereafter, TACE-camrelizumab) in the treatment of patients with recurrent hepatocellular carcinoma (R-HCC) after curative resec
Externí odkaz:
https://doaj.org/article/35282e3a694142ef92f37496f1017701
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