Results 101 to 110 of about 132,731 (277)

β‐Adrenergic Signaling Promotes Anti‐Tumor Immunity in TP53‐mutant Oral Squamous Cell Carcinoma

Advanced Science, EarlyView.
β‐adrenergic stimulation enhances anti‐tumor immunity in TP53‐deficient oral squamous cell carcinoma by inducing tumor‐derived secretion of CXCL10, which attracts and activates cytotoxic CD8+ T cells. The findings demonstrate that β‐adrenergic signaling alters tumor–immune interactions via CXCL10‐mediated paracrine activation, revealing a neuro‐immune ...
Frederico O. Gleber‐Netto, Deborah Silverman, Tongxin Xie, Shamima Akhter, Nicole R. Vaughn, Adewale Adebayo, Kala Chand Debnath, Shorook Naara, Shajedul Islam, Erik Knutsen, Emily Lorin Ashkin, Simone Anfossi, Sara Leahey, Patrick Hwu, Sebastien Talbot, Erica K Sloan, Robert Saddawi‐Konefka, Roberto Rangel, Jeffrey N. Myers, George A. Calin, Moran Amit   +20 more
wiley   +1 more source

Alphaviral Capsid Proteins Inhibit Stress Granule Assembly via Competitive RNA Binding With G3BP1

Advanced Science, EarlyView.
Stress granules exert antiviral functions. This study illustrates a conserved function of alphaviral capsid proteins in modulating stress granules. Oligomerization mediated by a helical motif coupled with a positively charged intrinsically disordered region (IDR) directly competes with G3BP1 for RNA binding, thereby disrupting G3BP1‐RNA liquid–liquid ...
Yun Zhang, Yi Liu, Zhiying Yao, Haolong Lai, Xiaoxin Chen, Ziqiu Wang, Yiqiong Bao, Tingting Li, Xiaoming Zhou, Xiabin Chen, Peiguo Yang   +10 more
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

Mapping Genetic Regulation of Transcription to Identify Functional Variants and Genes Associated with Pancreatic Cancer Risk

Advanced Science, EarlyView.
Integration of a pancreatic eQTL map with a GWAS meta‐analysis identifies 82 putative functional variants and 15 genes. The association between rs11102484 and pancreatic cancer risk is observed in a total of 5699 cases and 8467 controls. The G allele of rs11102484 weakens ZNF263 binding and the silencer‐promoter interaction, thereby increasing ST7L ...
Xiaoyang Wang, Hui Geng, Zhengyan Yao, Yuan Jiang, Can Chen, Zequn Lu, Shuangshuang Tian, Ming Zhang, Ruiyan Liu, Chenxi Feng, Bin Li, Xiaoping Miao, Jianbo Tian, Shaokai Zhang, Ying Zhu   +14 more
wiley   +1 more source

RIPK3 dampens mitochondrial bioenergetics and lipid droplet dynamics in metabolic liver disease

Hepatology, EarlyView., 2022
RIPK3 dampens mitochondrial bioenergetics and lipid droplet dynamics in metabolic liver disease. Abstract Background and Aims Receptor‐interacting protein kinase 3 (RIPK3) mediates NAFLD progression, but its metabolic function is unclear. Here, we aimed to investigate the role of RIPK3 in modulating mitochondria function, coupled with lipid droplet (LD)
Marta B. Afonso, Tawhidul Islam, Julie Magusto, Ricardo Amorim, Véronique Lenoir, Rui F. Simões, José Teixeira, Liana C. Silva, Dominique Wendum, Isabelle Jéru, Corinne Vigouroux, Rui E. Castro, Paulo J. Oliveira, Carina Prip‐Buus, Vlad Ratziu, Jérémie Gautheron, Cecília M. P. Rodrigues   +16 more
wiley   +1 more source

Correction of Frameshift Mutations with Tailed Duplex DNAs

Biological and Pharmaceutical Bulletin, 2011
Tailed duplex (TD) DNAs, prepared by annealing an oligonucleotide to a several-hundred-base single-stranded (ss) DNA fragment, correct a base-substitution mutation with high efficiency. In the present study, the abilities of TD fragments to correct single-base insertion and deletion mutations were examined, using hygromycin-resistance and enhanced ...
Morita, Yukiko, Tsuchiya, Hiroyuki, Harashima, Hideyoshi, Kamiya, Hiroyuki   +3 more
openaire   +4 more sources

Genetic Diagnosis and Discovery Enabled by Large Language Models

Advanced Science, EarlyView.
We demonstrate that large language models (LLMs) can facilitate genetic diagnosis and discovery. LLMs were used to solve four types of genetic problems of sequentially increased complexity. An LLM‐based pipeline could analyze genetic variants in the genomic sequences of human hearing loss or rare genetic disease patients and assist in identifying ...
Tao Tu, Khaled Saab, Weida Liu, Zhouqing Fang, Zhuanfen Cheng, Svetolik Spasic, Maja Djurisic, Hiroaki Mohri, Wenlong Ren, Anil Palepu, Juraj Gottweis, Alan Karthikesalingam, Kavita Kulkarni, Annalisa Pawlosky, Devon Bonner, Elijah Kravets, Shruti Marwaha, Hector R. Mendez, Matthew T. Wheeler, Jonathan A. Bernstein, Undiagnosed Diseases Network, Cheng‐Yu Tsai, Chen‐Chi Wu, Konstantina M. Stankovic, Vivek Natarajan, Gary Peltz   +25 more
wiley   +1 more source

Novel Mutation of Cleidocranial Dysplasia-related Frameshift Runt-related Transcription Factor 2 in a Sporadic Chinese Case

Chinese Medical Journal, 2017
Background: Cleidocranial dysplasia (CCD) is an autosomal dominant disease that affects the skeletal system. Common symptoms of CCD include hypoplasia or aplasia of the clavicles, delayed or even absent closure of the fontanels, midface hypoplasia, short
Xue-Yan Qin, Pei-Zeng Jia, Hua-Xiang Zhao, Wei-Ran Li, Feng Chen, Jiu-Xiang Lin   +5 more
doaj   +1 more source

Natural Variations of ZmRLR1 Mediate the Root Lodging Resistance of Maize by Regulating Root Ascorbate and Auxin Homeostasis

Advanced Science, EarlyView.
Root lodging severely limits crop yield and quality. We reveal that ZmRLR1, a plasma membrane b‐type cytochrome, regulates lodging resistance in maize through dual roles: modulating intracellular redox balance and functioning as a novel component of clathrin‐mediated endocytosis to influence auxin homeostasis. Moreover, natural variations in the ZmRLR1
Wenshuai Lv, Pengshuai Yan, Huan Chen, Guangxian Li, Yiyue Zhao, Yanhui Chen, Wen‐Xue Li, Qingguo Du   +7 more
wiley   +1 more source

Analysis of clinical and genetic features in an adolescent patient with primary ciliary dyskinesia induced by homozygous mutation in the RSPH4A gene: a case report

Frontiers in Pediatrics
Primary ciliary dyskinesia (PCD) is a rare genetically heterogeneous disorder characterized by dysfunctional motile cilia, with or without detectable ultrastructural abnormalities. This study focuses on a homozygous mutation in the rare radial spoke head
Wanting Xu, Wanting Xu, Wanting Xu, Wanting Xu, Yan Yang, Yan Yang, Yan Yang, Lan Kang, Lan Kang, Ling Guo, Jing Liu, Yan Zeng, Lei Li, Ai Chen, Rong Zhang, Rong Zhang, Wenbin Dong, Wenbin Dong, Wenbin Dong   +18 more
doaj   +1 more source