Results 211 to 220 of about 2,990,182 (255)

Transfer RNA‐Derived Small RNA‐5’tiRNAGln Drives HNRNPC Phase Separation to Promote Breast Cancer Bone Metastasis by Regulating IGF1R

Advanced Science, EarlyView.
This study reveals that 5'tiRNA‐Gln interacts with hnRNPC to promote IGF1R liquid‐liquid phase separation, which drives ERK1/2 signaling activation, EMT, and breast cancer bone metastasis. These findings highlight a novel mechanism of breast cancer bone metastasis and potential therapeutic target in metastatic breast cancer.
Bingnan Wang, Dongsong Liu, Xiaozhi Fan, Jiale Fan, Xuesi liu, Yu Wang, Zixin Wang, Mo Cheng, Ping Zhou, Wangjun Yan   +9 more
wiley   +1 more source

Clinical Interpretation of a Novel AAGAB Splice-Site Variant (c.73+5G>A) of Uncertain Significance in a Clinically Typical Punctate Palmoplantar Epidermal Differentiation Disorder Phenotype. [PDF]

J Dermatol
Kinjo K, Minatogawa M, Asano Y.
europepmc   +1 more source

CXCL3 Antagonism Reverses Systemic Antitumor Immune Memory Impairment Associated With High Tumor Burden and Sensitizes Anti‐PD‐1 Therapy

Advanced Science, EarlyView.
This study reveals that large tumors secrete more chemokine CXCL3, which recruits immunosuppressive neutrophils to the periphery, thereby impairing the activation and memory of systemic tumor‑reactive CD8+ T cells. CXCL3 antagonism restores systemic immune memory and enhances the antitumor efficacy of anti‑PD‑1 therapy, offering a potential strategy to
Ji Wang, Xinyu Tang, Zeju Li, Qi Qi, Chang Sun, Wen Sun, Weiya Zhang, Yue Yin, Ya Deng, Peiwen Ling, Yifan Xu, Guangshun Sun, Yi Ren, Hong Pan, Shui Wang, Wenbin Zhou   +15 more
wiley   +1 more source

Two adult 46,XY sisters with female-like phenotype due to a novel homozygous <i>LHCGR</i> splice-site variant. [PDF]

JCEM Case Rep
Meirelles MG, Scalco RC, Marques JM, Lima Junior J, Bueno CF, Mendonca BB.   +5 more
europepmc   +1 more source

Non‐Coding Transcripts From Diversified Members of IgLec Family Protect Antiviral Effectors From Viral miRNA

Advanced Science, EarlyView.
The IgLec gene family generates both protein‐coding antiviral effectors and non‐coding transcripts. Upon viral infection, non‐coding transcripts are preferentially targeted by viral miR‐N48, thereby buffering protein‐coding isoforms from repression. Depletion of these decoy transcripts compromises antiviral defense, revealing a non‐coding RNA‐mediated ...
Ying Huang, Rui Shen, Xin Huang, Gu‐Qin Ji, Jiang‐Feng Lan, Qian Ren   +5 more
wiley   +1 more source

Genotype-Driven Diagnosis Enables Targeted Pharmacological Treatment in Brunner Syndrome: A Novel Splice-Site <i>MAOA</i> Variant and Case-Based Review. [PDF]

Int J Mol Sci
Gravagno E, Bellini M, Ambrosini E, Luberto A, Busciglio S, Vitetta G, Cannizzaro IR, Taiani A, Barili V, Percesepe A, Uliana V, Martorana D.   +11 more
europepmc   +1 more source

DUET‐seq: An Open‐Source Droplet Platform for High‐Fidelity Joint Chromatin and Transcriptome Profiling Reveals Temporal Regulatory Decoupling in Single Cells

Advanced Science, EarlyView.
DUET‐seq is an open‐source droplet platform that jointly profiles chromatin accessibility and gene expression from the same nucleus. Dissolvable dual‐linker hydrogel beads and a one‐step intra‐droplet RT‐PCR co‐index both modalities in under 12 h at roughly $0.04 per cell.
Dong Cheng, Zijun Meng, Lan Wei, Pingjing Yang, Fanfan Zhang, Zhiyi Luo, Ting Lai, Chunli Li, Mengyao Zhao, Mengqin Xu, Jiaqi Wang, Linjun Li, Huarong Chen, Jin Li, Ailong Huang, Youquan Bu, Liuyang Zhao   +16 more
wiley   +1 more source

Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants. [PDF]

Mov Disord
Westenberger A, Verdura E, Radefeldt M, Sanderson LE, Tripolszki K, Marcé-Grau A, Cazurro-Gutiérrez A, Nikoncuk A, Herzog R, Al-Ali R, Ferreira M, Almeida LS, Silveira TRD, Khan S, Maia RD, Klivényi P, Salamon A, Baltaci V, Subasioglu A, Prada-Arismendy J, Čuturilo G, Loens S, Tadic V, Maystadt I, Karadurmus D, Leube B, De Winter J, Monticelli A, De Waele L, Baets J, Vinkšel M, Maver A, Tschopp L, Ziegler G, Sanguinetti A, Lohmann K, Barakat TS, Bauer P, Perez-Dueñas B, Bertoli-Avella AM.   +39 more
europepmc   +1 more source

Galactokinase 1 Positively Regulates Mitochondrial Respiration by Phosphorylating TIMM13 as a Protein Kinase

Advanced Science, EarlyView.
GALK1 acts as a protein kinase beyond the phosphorylation of galactose. GALK1 phosphorylates TIMM13 at Y73 in the cytoplasm. This phosphorylation prevents premature oxidative folding of TIMM13 and ensures its entrance into the intermembrane space of mitochondrion, positively regulating mitochondrial respiration.
Chang Woo Ko, Dongyoon Shin, Junho Park, June Huh, Youngsoo Kim, Jong‐Wan Park   +5 more
wiley   +1 more source

Identification of a Novel Splice-Site Variant in CACNA1F With Variable Phenotypic Expression in a Chinese Family. [PDF]

Mol Genet Genomic Med
Li M, Chen C, Li Y, Wen T, Zhou H, Xie W.   +5 more
europepmc   +1 more source