Results 201 to 210 of about 615,294 (304)

Exome Sequencing Reveals the Genetic Architecture of Non‐syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene

Advanced Science, EarlyView.
Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial defects. Exome sequencing of 214 sporadic cases sheds new light on its genetic architecture and identifies many candidate pathogenic variants. Furthermore, functional studies establish BOC as a novel causal gene and reveal an unusual two‐locus model of inheritance via the epistatic
Qing He, Min Yu, Yuhua Jiao, Yizhu Xu, Xuqin Liang, Wenbin Huang, Linping Xu, Yuxia Hou, Zhanping Ren, Beile Lyu, Zhenwei Qian, Pengpeng Liu, Jing Zhou, Huimei Huang, Chunyan Yin, Huaxiang Zhao, Yi Ding   +16 more
wiley   +1 more source

CCRR: a user-friendly platform for analyzing complex chromosomal rearrangements in tumors. [PDF]

Bioinformatics
Liu J, Wang K, Yuan Y, Bao G, Ci H, Liu M, Lyu Y, Tang J, Yang J, Cai H.   +9 more
europepmc   +1 more source

USP10 Inhibits Ferroptosis via Deubiquinating POLR2A in Head and Neck Squamous Cell Carcinoma

Advanced Science, EarlyView.
This study identifies USP10 as a novel deubiquitinase that antagonizes ferroptosis in head and neck squamous cell carcinoma (HNSCC). Mechanistically, USP10 directly stabilizes POLR2A protein through post‐translational deubiquitination, enabling POLR2A‐mediated transcriptional activation of SLC7A11, a key ferroptosis inhibitor.
Diekuo Zhang, Xueying Wang, Shanhong Lu, Yan Gao, Gangcai Zhu, Guo Li, Zongnan Yu, Junwei Hou, Helei Yan, Wenhui Yuan, Xin Zhang, Mien‐Chie Hung, Zhifeng Liu, Yong Liu   +13 more
wiley   +1 more source

Differentiable graph clustering with structural grouping for single-cell RNA-seq data. [PDF]

Bioinformatics
Yan X, Du S, Zou Q, Tian Z.
europepmc   +1 more source

Cathepsin K Aggravates Pulmonary Fibrosis Through Promoting Fibroblast Glutamine Metabolism and Collagen Synthesis

Advanced Science, EarlyView.
CTSK plays a critical role in pulmonary fibrosis. Excessive CTSK accumulation interacts with SNX9 to enhance TGF‐β1‐induced SMAD3 activation and GLS1 expression in fibroblasts, driving glutamine metabolism for collagen biosynthesis and exacerbating pulmonary fibrosis.
Mengting Chen, Xiaoxiao Meng, Yong Zhu, Dapeng Wang, Mengmeng Wang, Ziyuan Wang, Xue Tian, Jiaxiang Zhang, Zhiying Yue, Zhengfeng Yang, Ruilan Wang   +10 more
wiley   +1 more source

Spatial mutual nearest neighbors for spatial transcriptomics data. [PDF]

Bioinformatics
Zhou H, Panwar P, Guo B, Hallinan C, Ghazanfar S, Hicks SC.   +5 more
europepmc   +1 more source

Of genomics and bioinformatics [PDF]

The Pharmacogenomics Journal, 2010
openaire   +3 more sources

Epigenetic Activation of CCDC183‐AS1 Promotes Osteoclastogenesis and Prostate Cancer Bone Metastasis Through the FUBP1/LIGHT Axis

Advanced Science, EarlyView.
CCDC183‐AS1 overexpression enhanced the ability of PCa cells to spread to the bone by inducing osteoclastogenesis. Mechanistically, CCDC183‐AS1 interacted with FUBP1 and enhanced its stability, which promoted the transcription of TNFSF14 (LIGHT). Copy number gain‐induced KDM5C epigenetically upregulated CCDC183‐AS1 expression by recruiting TET1 to the ...
Chuandong Lang, Xiangyu Mu, Kun Chen, Xinwen Wang, Yuluo Rong, Jia Wang, Zongcheng Yang, Chi Yin, Yuhu Dai, Jun Xiao, Wenzhi Zhang   +10 more
wiley   +1 more source

LegionProfiler: A computational tool for the identification of virulence factors and classification of Legionella pneumophila serogroup 1 isolates. [PDF]

Bioinformatics
Sarumi OA, Bertrams W, Schwengers O, Herrmann JP, Hain T, Kieper L, Petzold M, Goesmann A, Schmeck BT, Heider D.   +9 more
europepmc   +1 more source

PROS1‐MERTK Axis Drives Tumor Microenvironment Crosstalk and Progression in Papillary Thyroid Microcarcinoma

Advanced Science, EarlyView.
Identifying biomarkers associated with PTC, particularly those related to PTMC progression, is crucial for precise risk stratification and treatment planning. This study utilized single‐cell RNA sequencing on 19 surgical tissue specimens, confirmed PROS1/MERTK axis as a critical component of the cellular microenvironment and a key regulatory mechanism ...
Wenqian Zhang, Ye Zhang, Zhu Liu, Zhiyuan Wang, Huaqin Wang, Xiaoyu Ji, Hongyue Su, Fan Yang, Lirong Yan, Ying Xu, Hao Zhang, Wei Sun   +11 more
wiley   +1 more source