Zobrazeno 1 - 10
of 55
pro vyhledávání: '"Fengyu Che"'
Publikováno v:
Molecular Cytogenetics, Vol 16, Iss 1, Pp 1-16 (2023)
Abstract Background Copy-number variants (CNVs) drive many neurodevelopmental-related disorders. Although many neurodevelopmental-related CNVs can give rise to widespread phenotypes, it is necessary to identify the major genes contributing to phenoty
Externí odkaz:
https://doaj.org/article/1a39a3eabe514a2e9502822790f47885
Autor:
Benchang Li, Yafei Zhou, Fengyu Che, Rui Zhou, Lidangzhi Mo, Liyu Zhang, Guoxia Wang, Ying Yang
Publikováno v:
Stem Cell Research, Vol 71, Iss , Pp 103165- (2023)
Li-Campeau syndrome (LICAS) is a syndromic neurodevelopmental disorder characterized by autosomal recessive inheritance and global developmental delay. In this study, we reported the generation of a novel induced pluripotent stem cell (iPSC) line der
Externí odkaz:
https://doaj.org/article/53b1b90e73f948d0bcc66abbc53f7b5b
Autor:
Liyu Zhang, Meng Wang, Zeen Zhu, Shengquan Chen, Haibin Wu, Ying Yang, Fengyu Che, Qiao Li, Hui Li
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 26, Iss , Pp 732-748 (2021)
Because current mainstream anti-glycolipid GD2 therapeutics for neuroblastoma (NB) have limitations, such as severe adverse effects, improved therapeutics are needed. In this study, we developed a GD2 aptamer (DB99) and constructed a GD2-aptamer-medi
Externí odkaz:
https://doaj.org/article/feae2a90fe814ac992d293a6b391117c
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
ObjectiveAccording to a recent report, the mutation of transcription factor gene BCL11B is associated with the development of neurodevelopmental disorders and immune deficiency. By analyzing both clinical features and genetic variations, this study a
Externí odkaz:
https://doaj.org/article/25709b689c8c4dd2a4fba109ae6a5ba4
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Purpose: This study reports the clinical and genetic features of Brown-Vialetto-Van Laere syndrome (BVVL) type 2 in a case of uniparental disomy of chromosome 8 in mainland China and analyzes the genotype-phenotype correlation through a review of the
Externí odkaz:
https://doaj.org/article/b8896f13228443649f5577cd52295132
Publikováno v:
Frontiers in Genetics, Vol 12 (2022)
Aim: To determine the etiology of a Chinese family with thrombocytopenia by analyzing the clinical features and genetic variation.Methods: Clinical profiles and genomic DNA extracts of the family members were collected for the study. Whole exome sequ
Externí odkaz:
https://doaj.org/article/f641b2ed6eb4430a90cbcac385571287
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
AimTo explore the clinical imaging, laboratory and genetic characteristics of a newborn boy with isolated sulfite oxidase deficiency (ISOD) in a Chinese mainland cohort.MethodsHomocysteine and uric acid in plasma and cysteine and total homocysteine i
Externí odkaz:
https://doaj.org/article/590bf35face347dcb1cc38e5485a3a5c
Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)
Abstract Background Oculocutaneous albinism (OCA) is a group of heterogeneous autosomal recessive genetic disorder of melanin synthesis results in hypopigmented hair, skin, and eyes. OCA type 1, OCA type 2, and OCA type 4, which are respectively caus
Externí odkaz:
https://doaj.org/article/a31fc17e73f54702978ea7850dc31fc5
Autor:
Rui Hu, Fengyu Chen, Xueting Yu, Zengzheng Li, Yujin Li, Shuai Feng, Jianqiong Liu, Huiyuan Li, Chengmin Shen, Xuezhong Gu, Zhixiang Lu
Publikováno v:
BMC Cancer, Vol 24, Iss 1, Pp 1-15 (2024)
Abstract Background Angiogenesis is associated with tumour growth, infiltration, and metastasis. This study aimed to detect the mechanisms of angiogenesis-related genes (ARGs) in multiple myeloma (MM) and to construct a new prognostic model. Methods
Externí odkaz:
https://doaj.org/article/3620492c86c247ab90551c77d0264437
Autor:
Meng Wang, Zeen Zhu, Qiao Li, Ying Yang, Haibin Wu, Liyu Zhang, Shengquan Chen, Hui Li, Fengyu Che
Publikováno v:
Molecular Therapy. Nucleic Acids
Molecular Therapy: Nucleic Acids, Vol 26, Iss, Pp 732-748 (2021)
Molecular Therapy: Nucleic Acids, Vol 26, Iss, Pp 732-748 (2021)
Because current mainstream anti-glycolipid GD2 therapeutics for neuroblastoma (NB) have limitations, such as severe adverse effects, improved therapeutics are needed. In this study, we developed a GD2 aptamer (DB99) and constructed a GD2-aptamer-medi