Zobrazeno 1 - 10
of 158
pro vyhledávání: '"Qihua Fu"'
Publikováno v:
Clinical and Translational Discovery, Vol 4, Iss 3, Pp n/a-n/a (2024)
Abstract Background Molecular diagnostic technology is the foundation of precision medicine, which has the advantages of good specificity, high sensitivity, strong targeting, rapiddiagnosis, etc. It has a wide range of applications in the field of pe
Externí odkaz:
https://doaj.org/article/618053bb5dbe41bcb4cf46c3cdfb3b7f
Autor:
Yibo Lu, Yiyang Zhou, Jing Guo, Ming Qi, Yuwan Lin, Xingyu Zhang, Ying Xiang, Qihua Fu, Bo Wang
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-16 (2023)
Abstract Congenital anomalies of the kidney and urinary tract (CAKUT) are disorders resulting from defects in the development of the kidneys and their outflow tract. Copy number variations (CNVs) have been identified as important genetic variations l
Externí odkaz:
https://doaj.org/article/20ca65e10e53499b9168bac9e2e736be
Autor:
Niu Li, Yufei Xu, Hongzhu Chen, Jingqi Lin, Lama AlAbdi, Mir Reza Bekheirnia, Guoqiang Li, Yoel Gofin, Nasim Bekheirnia, Eissa Faqeih, Lina Chen, Guoying Chang, Jie Tang, Ruen Yao, Tingting Yu, Xiumin Wang, Wei Fu, Qihua Fu, Yiping Shen, Fowzan S. Alkuraya, Keren Machol, Jian Wang
Publikováno v:
EBioMedicine, Vol 99, Iss , Pp 104940- (2024)
Summary: Background: Pathogenic variants in the centrosome protein (CEP) family have been implicated in primary microcephaly, Seckel syndrome, and classical ciliopathies. However, most CEP genes remain unlinked to specific Mendelian genetic diseases
Externí odkaz:
https://doaj.org/article/feaa18e3ae4044efa81e50c3d6abb23f
Autor:
Yibo Lu, Qing Fang, Ming Qi, Xiaoliang Li, Xingyu Zhang, Yuwan Lin, Ying Xiang, Qihua Fu, Bo Wang
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-16 (2023)
A transcriptomic analysis of lncRNAs within copy-number variations identifies HSALNG0104472 as a potential lncRNA effector of cardiac defects in non-syndromic congenital heart disease.
Externí odkaz:
https://doaj.org/article/8ac5ec81f5c647afb814f011fef4a96f
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-12 (2021)
Abstract Background Congenital heart disease (CHD) is one of the most common birth defects. Copy number variations (CNVs) have been proved to be important genetic factors that contribute to CHD. Here we screened genome-wide CNVs in Chinese children w
Externí odkaz:
https://doaj.org/article/41a0dd9eba4e47ce9f25455762484f55
Autor:
Xuechao Jiang, Tingting Li, Sijie Liu, Qihua Fu, Fen Li, Sun Chen, Kun Sun, Rang Xu, Yuejuan Xu
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Abstract Background TBX1 (T-box transcription factor 1) is a major candidate gene that likely contributes to the etiology of velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS). Although the haploinsufficiency of TBX1 in both mice and humans res
Externí odkaz:
https://doaj.org/article/0b3a087497624863a7b0a9e234c04a19
Publikováno v:
Stem Cell Research, Vol 62, Iss , Pp 102817- (2022)
Externí odkaz:
https://doaj.org/article/2e2b6229e0d34cf6801d832e852ffcfe
Autor:
Hong Jiang, Hongbin Cheng, Qing Cao, Anxing Fei, Ming Yuan, Lixia Zhang, Shinuan Fei, Jun Li, Shixiong Yang, Jiang Wu, Qihua Fu, Sheng Li, Xiaoqing Zhang
Publikováno v:
Biomedical Journal, Vol 44, Iss 1, Pp 94-100 (2021)
Background: A pandemic caused by SARS-CoV-2 infection (COVID-19) has rapidly spread across the globe. Although many articles have established the clinical characteristics of adult COVID-19 patients so far, limited data are available for children. The
Externí odkaz:
https://doaj.org/article/7fb2f8dc4202437d8509a5fed8c408a3
Autor:
Bailing Zu, Xiaoqing Zhang, Yunlan Xu, Ying Xiang, Zhigang Wang, Haiqing Cai, Bo Wang, Guoling You, Qihua Fu
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 19, Iss , Pp 3482-3490 (2021)
Purpose: Polydactyly is a highly heterogeneous group of skeletal deformities in clinical and genetic background. The variation spectrum in Chinese sporadic polydactyly has not been comprehensively analyzed. To elucidate genetic variation spectrum and
Externí odkaz:
https://doaj.org/article/a9e6a03a26b541d0ab81becdd6372258
Publikováno v:
Zhongguo shipin weisheng zazhi, Vol 32, Iss 06, Pp 697-702 (2020)
Objective To explore the blood arsenic exposure levels of preschool children and analyze the factors of blood arsenic. Methods By the multi-stage cluster and simple randomized method, six districts of Shanghai City was chosen and the preschool childr
Externí odkaz:
https://doaj.org/article/6e1a30ccd6174568a206f23d2101f97f