Results 141 to 150 of about 323,621 (299)

P730: Genetic basis of dysferlinopathy: A comprehensive analysis of sequence and copy number variants from a large cohort of 686 patients

Genetics in Medicine Open
Babi Ramesh Reddy Nallamilli, Mary Colasanto, Sreyanth Chandra Parupalli, Ruby Liu, Lakshmanan Jagannathan, Arul Joseph Duraisamy, Vinish Ramachander, Supan Dhillon, Madhuri Hegde   +8 more
doaj   +1 more source

4‐Hydroxybenzyl Alcohol Mitigates Hyperlipidemia‐Associated Depression by Inhibiting Neuroinflammation via the NKIRAS2/NF‐κB Pathway

Advanced Science, EarlyView.
4‐HBA upregulates NKIRAS2 levels, inhibiting the activation of the NF‐κB pathway and subsequently reducing the levels of neuroinflammatory markers. This modulation helps restore normal mood and behavior in hyperlipidemic conditions, providing a potential therapeutic strategy for managing hyperlipidemia‐associated depression.
Ying Zhang, Meng Teng, Wenxuan He, Lanzhou Li, Yongfeng Zhang, Shimiao Wang, Chunyue Wang, Di Wang   +7 more
wiley   +1 more source

P599: Beyond single nucleotide variants and copy number variations: Spinal muscular atrophy and repeat expansion disorders screening by whole genome sequencing

Genetics in Medicine Open
Ruby Liu, Babi Ramesh Reddy Nallamilli, Christin Collins, Lora Bean, Madhuri Hegde   +4 more
doaj   +1 more source

A Functionally Conserved Enhancer is Critical for PGC1A Expression and Thermogenesis in Brown Fat

Advanced Science, EarlyView.
An evolutionarily conserved enhancer controls PGC1A expression and thermogenic activation in brown adipose tissue. Integrative multi‐omics analyses identify two BAT‐specific enhancers, with PGC1A‐En1 functioning as the dominant regulatory element that maintains thermogenic capacity across species.
Duo Su, Haosen Yang, Xiaokai Li, Tingting Jiang, Siyuan Zhan, Tao Zhong, Jiazhong Guo, Yan Wang, Li Li, Hongping Zhang, Linjie Wang   +10 more
wiley   +1 more source

P649: The clinical utility of genome sequencing in the molecular diagnosis of genes related to inborn errors of metabolism

Genetics in Medicine Open
Xiangwen Chen-Deutsch, Mary Colasanto, Cristina da Silva, Christin Collins, Madhuri Hegde   +4 more
doaj   +1 more source

A Radioresistant‐Tumor‐Targeted Nanoparticle for X‐Ray‐Controlled Nitric Oxide Release to Potentiate Radiotherapy

Advanced Science, EarlyView.
The PBTN targets GRP78 and, upon X‐ray irradiation, generates ONOO− to induce immunogenic cell death, thereby activating CD8+ T cells and establishing a systemic antitumor immune response. ABSTRACT Nitric oxide (NO) treated radioresistant tumors by relieving hypoxia and blocking DNA repair, but its nonselective toxicity has precluded therapeutic use ...
Wanze Zhang, Xiaoyan Yin, Ting Wang, Hongfu Zhao, Zhipeng Zhao, Jinbao Wang, Cheng Tao, Xuanchu Ge, Yanze Li, Linlin Liu, Fuxin Xue   +10 more
wiley   +1 more source

P581: Comparison of GLA variant profile in newborn screening confirmatory testing and diagnostic testing for Fabry disease*

Genetics in Medicine Open
Xiangwen Chen-Deutsch, Rizwan Yousaf, Yinghong Pan, Christin Collins, Madhuri Hegde   +4 more
doaj   +1 more source

Gut Lactate Boosts Ruminococcus via Histone Lactylation to Mediate Time‐Restricted Feeding Protection in Crohn's Disease

Advanced Science, EarlyView.
TRF enriches Ruminococcus, a bacterial genus producing SCFAs, and activates the epithelial HIF‐1α signaling pathway. This mechanism protects the colonic mucosa from inflammatory insults in colitis models. Mechanistically, gut lactate production during starvation and refeeding mediates H4K12la, which increases SLC9A3 expression and creates an acidic gut
Linwen Huang, Huishi Tan, Senhui Weng, Yuntao Liu, Lingxu Song, Shaoyu Cheng, Zelong Lin, Jiawei Chen, Fei Tan, Jun Wang, Jinke Huang, Linkun Cai, Jiwei Chai, Cailing Zhong, Yanqiang Shi, Wendi Zhang, Haiyan Zhang, Chongyang Huang   +17 more
wiley   +1 more source

P696: Case presentation: Co-segregation of a rare GLA variant of uncertain significance within 2 multiplex families facilitates variant reclassification to pathogenic

Genetics in Medicine Open
Mary Colasanto, Yinghong Pan, Ruby Liu, Christin Collins, Madhuri Hegde   +4 more
doaj   +1 more source

Construction of Rheumatoid Arthritis-Associated Interstitial Lung Disease diagnostic model and identification of biomarkers based on a multi-omics integration strategy of machine learning. [PDF]

Clinics (Sao Paulo)
Wu D, Chen J, Liang H, Chen C, Liang M, Liao C, He X, Zhai J, Dai M, Lu X, Zeng F, Zou Q.   +11 more
europepmc   +1 more source