Zobrazeno 1 - 10
of 246
pro vyhledávání: '"Shen Gu"'
Autor:
Yue Chai, Sharon Shui Ying Lee, Amelle Shillington, Xiaoli Du, Catalina Ka Man Fok, Kam Chun Yeung, Gavin Ka Yu Siu, Shiyang Yuan, Zhongyu Zheng, Hayley Wing Sum Tsang, Shen Gu, Yu Chen, Tao Ye, Jacque Pak Kan Ip
Publikováno v:
IBRO Neuroscience Reports, Vol 15, Iss , Pp 218-224 (2023)
Rett Syndrome (RTT) is a neurodevelopmental disorder caused by pathogenic variants in the MECP2 gene. While the majority of RTT-causing variants are clustered in the methyl-CpG binding domain and NCoR/SMRT interaction domain, we report a female patie
Externí odkaz:
https://doaj.org/article/16fb12260f6e42c2b3086d216aa66188
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101011- (2024)
Externí odkaz:
https://doaj.org/article/0db54847450e4020980c6399fc551ad3
Autor:
Ziheng Zhou, Yueyang Pan, Si Zhou, Shuguang Wang, Dengwei Zhang, Ye Cao, Xiaosen Jiang, Jie Li, Linnan Zhu, Lijian Zhao, Shen Gu, Ge Lin, Zirui Dong, Hai-Xi Sun
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Background: Currently, the mechanism(s) underlying corticogenesis is still under characterization.Methods: We curated the most comprehensive single-cell RNA-seq (scRNA-seq) datasets from mouse and human fetal cortexes for data analysis and confirmed
Externí odkaz:
https://doaj.org/article/357c5361d6cd4a6582feb4448cea7699
Autor:
Adrian On-Wah Leung, Tsz-Ching Yiu, Lingxiao Liu, Hei-Yin Tam, Shen Gu, Jiajie Tu, Duanqing Pei, Hoi-Hung Cheung
Publikováno v:
Cell & Bioscience, Vol 12, Iss 1, Pp 1-16 (2022)
Abstract Background Pathogenic mutations in WRN are a cause of premature aging disease Werner syndrome (WS). Besides accelerated aging phenotypes and cancer predisposition, patients with WS also display underdevelopment in the skeletal system, charac
Externí odkaz:
https://doaj.org/article/2c50e11b7a0f437dae7d409b46668504
Autor:
Wenjuan Zhu, Chen Wang, Nandita Mullapudi, Yanan Cao, Lin Li, Ivan Fai Man Lo, Stephen Kwok-Wing Tsui, Xiao Chen, Yong Lei, Shen Gu
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-10 (2022)
Abstract Single gene disorders are individually rare but collectively common leading causes of neonatal and pediatric morbidity and mortality. Both parents or the mothers of affected individuals with autosomal recessive or X-linked recessive diseases
Externí odkaz:
https://doaj.org/article/8ce0e5d5ecfa4c0e88127fc033641922
Autor:
Tao Zhang, Tingyun Lei, Ruojin Yan, Bo Zhou, Chunmei Fan, Yanyan Zhao, Shasha Yao, Haihua Pan, Yangwu Chen, Bingbing Wu, Yuwei Yang, Lijuan Hu, Shen Gu, Xiaoyi Chen, Fangyuan Bao, Yu Li, Hanqi Xie, Ruikang Tang, Xiao Chen, Zi Yin
Publikováno v:
Bioactive Materials, Vol 18, Iss , Pp 199-212 (2022)
Although ultra-small nanoclusters (USNCs, < 2 nm) have immense application capabilities in biomedicine, the investigation on body-wide organ responses towards USNCs is scant. Here, applying a novel strategy of single-cell mass cytometry combined with
Externí odkaz:
https://doaj.org/article/e732cf5f0dc7497983b90dba7ac72bb2
Autor:
Ruizhi Duan, Hadia Hijazi, Elif Yilmaz Gulec, Hatice Koçak Eker, Silvia R. Costa, Yavuz Sahin, Zeynep Ocak, Sedat Isikay, Ozge Ozalp, Sevcan Bozdogan, Huseyin Aslan, Nursel Elcioglu, Débora R. Bertola, Alper Gezdirici, Haowei Du, Jawid M. Fatih, Christopher M. Grochowski, Gulsen Akay, Shalini N. Jhangiani, Ender Karaca, Shen Gu, Zeynep Coban-Akdemir, Jennifer E. Posey, Yavuz Bayram, V. Reid Sutton, Claudia M.B. Carvalho, Davut Pehlivan, Richard A. Gibbs, James R. Lupski
Publikováno v:
HGG Advances, Vol 3, Iss 4, Pp 100132- (2022)
Summary: Genetic heterogeneity, reduced penetrance, and variable expressivity, the latter including asymmetric body axis plane presentations, have all been described in families with congenital limb malformations (CLMs). Interfamilial and intrafamili
Externí odkaz:
https://doaj.org/article/335675b4b479443ca3e74cb451032f99
Autor:
Vahid Bahrambeigi, Xiaofei Song, Karen Sperle, Christine R. Beck, Hadia Hijazi, Christopher M. Grochowski, Shen Gu, Pavel Seeman, Karen J. Woodward, Claudia M. B. Carvalho, Grace M. Hobson, James R. Lupski
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)
Abstract Background We investigated the features of the genomic rearrangements in a cohort of 50 male individuals with proteolipid protein 1 (PLP1) copy number gain events who were ascertained with Pelizaeus-Merzbacher disease (PMD; MIM: 312080). We
Externí odkaz:
https://doaj.org/article/e62010d3a4f7460980eda6cd0e59006b
Publikováno v:
Toxins, Vol 14, Iss 10, p 715 (2022)
The cyanobacterial blooms produced by eutrophic water bodies have become a serious environmental issue around the world. After cellular lysing or algaecide treatment, microcystins (MCs), which are regarded as the most frequently encountered cyanobact
Externí odkaz:
https://doaj.org/article/4ab022069c0343959b67811ce5fb383d
Autor:
Avinash V. Dharmadhikari, Rajarshi Ghosh, Bo Yuan, Pengfei Liu, Hongzheng Dai, Sami Al Masri, Jennifer Scull, Jennifer E. Posey, Allen H. Jiang, Weimin He, Francesco Vetrini, Alicia A. Braxton, Patricia Ward, Theodore Chiang, Chunjing Qu, Shen Gu, Chad A. Shaw, Janice L. Smith, Seema Lalani, Pawel Stankiewicz, Sau-Wai Cheung, Carlos A. Bacino, Ankita Patel, Amy M. Breman, Xia Wang, Linyan Meng, Rui Xiao, Fan Xia, Donna Muzny, Richard A. Gibbs, Arthur L. Beaudet, Christine M. Eng, James R. Lupski, Yaping Yang, Weimin Bi
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)
Abstract Background Exome sequencing (ES) has been successfully applied in clinical detection of single nucleotide variants (SNVs) and small indels. However, identification of copy number variants (CNVs) using ES data remains challenging. The purpose
Externí odkaz:
https://doaj.org/article/18841bbcba8a49ae8983651c935dcc11