Results 151 to 160 of about 1,163,135 (344)

LRRC8A Regulates Outer Hair Cell Volume and Electromotility and is Required for Hearing

open access: yesAdvanced Science, EarlyView.
This study identifies LRRC8A‐dependent volume‐regulated anion channels (VRACs) as essential for cochlear outer hair cells' electromotility and auditory signal amplification. LRRC8A deficiency disrupts cell volume control, impairs auditory sensitivity, and causes deafness, while targeted LRRC8A re‐expression restores auditory function.
Shengnan Wang   +15 more
wiley   +1 more source

Development and Validation of Machine Learning‐Based Marker for Early Detection and Prognosis Stratification of Nonalcoholic Fatty Liver Disease

open access: yesAdvanced Science, EarlyView.
This study constructs a stacked multimodal machine learning model for nonalcoholic fattly liver disease (NAFLD) by integrating genetic and clinical features, and synthesize an in‐silico quantitative marker (ISNLD) that enables personalized risk stratification for intrahepatic and extrahepatic outcomes of high‐risk individuals of NAFLD.
Lushan Xiao   +14 more
wiley   +1 more source

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

open access: yesAdvanced 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   +16 more
wiley   +1 more source

IncRNA‐ZFAS1, an Emerging Gate‐Keeper in DNA Damage‐Dependent Transcriptional Regulation

open access: yesAdvanced Science, EarlyView.
LncZFAS1 plays a crucial role during DNA damage response in mammalian cells. Loss of lncZFAS1 results in deficient DNA lesion removal and reduced cell viability. Mechanistically, lncZFAS1 modulates RNAPII phosphorylation and transcription and thereby promotes both GG‐NER and TC‐NER upon UV damage.
Jiena Liu   +10 more
wiley   +1 more source

Integrating Dense Genotyping with High‐Throughput Phenotyping Empowers the Genetic Dissection of Berry Quality and Resilience Traits in Grapevine

open access: yesAdvanced Science, EarlyView.
Researchers develop advanced tools to study grapevine traits like berry quality and stress resilience. A 200K SNP array and high‐throughput phenotyping enable the identification of loci linked to berry shape, sugar content, acidity, and cold tolerance. Functional validation of genes such as NAC08 reveals roles in cold tolerance.
Yuyu Zhang   +11 more
wiley   +1 more source

Lipoprotein lipase gene sequencing and plasma lipid profile

open access: yesJournal of Lipid Research, 2014
Lipoprotein lipase (LPL) plays a crucial role in lipid metabolism by hydrolyzing triglyceride (TG)-rich particles and affecting HDL cholesterol (HDL-C) levels.
Dilek Pirim   +8 more
doaj  

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