Results 111 to 120 of about 1,225,935 (368)

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

DNA‐PKcs‐Driven YAP1 Phosphorylation and Nuclear Translocation: a Key Regulator of Ferroptosis in Hyperglycemia‐Induced Cardiac Dysfunction in Type 1 Diabetes

open access: yesAdvanced Science, EarlyView.
In the context of chronic hyperglycemia, a DDR is initiated, leading to the pathological activation of DNA‐PKcs in the diabetic heart. This activated DNA‐PKcs directly interacts with and phosphorylates YAP1 at Thr226, thereby increasing the nuclear expression of YAP1.
Junyan Wang   +10 more
wiley   +1 more source

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

open access: yesAdvanced 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   +10 more
wiley   +1 more source

Targeting Cystine Metabolism in the Lung Cancer Environment Enhances the Efficacy of Immune Checkpoint Inhibition

open access: yesAdvanced Science, EarlyView.
The tumor‐associated macrophages (TAMs) in lung cancer tissues exhibit active cystine metabolism. Restricting cystine concentration in macrophages induces M1 phenotypic polarization and upregulation of PD‐L1 expression through the GSH‐NF‐κB signaling pathway.
Yun Xu   +20 more
wiley   +1 more source

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

open access: yesAdvanced 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   +11 more
wiley   +1 more source

The Nuclear Localization of ACLY Guards Early Embryo Development Through Recruiting P300 and HAT1 to Promote Histone Acetylation and Transcription

open access: yesAdvanced Science, EarlyView.
ACLY is vital for early embryo development. IGF‐1 activates AKT to phosphorylate ACLY, driving its nuclear localization and recruitment of HATs (P300/HAT1), boosting acetyl‐CoA production and histone acetylation for transcriptional activation. Conversely, ACLY deficiency (via knockdown, knockout, or AKT inhibition) reduces nuclear acetyl‐CoA, disrupts ...
Yerong Ma   +18 more
wiley   +1 more source

The Non‐Coding Regulatory Variant rs2863002 at chr11p11.2 Increases Neuroblastoma Risk by Affecting HSD17B12 Expression and Lipid Metabolism

open access: yesAdvanced Science, EarlyView.
The SNP rs2863002 at the 11p11.2 locus, identified through GWAS, is associated with an increased risk of neuroblastoma. The rs2863002‐C allele impairs the binding of the transcription factor GATA3, resulting in upregulation of the HSD17B12 gene.
Teresa Maiorino   +20 more
wiley   +1 more source

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