Results 171 to 180 of about 117,100 (294)

An ATP-independent role for Prp16 in promoting aberrant splicing. [PDF]

open access: yesNucleic Acids Res, 2023
Chung CS, Wai HL, Kao CY, Cheng SC.
europepmc   +1 more source

Leveraging Artificial Intelligence and Large Language Models for Cancer Immunotherapy

open access: yesAdvanced Science, EarlyView.
Cancer immunotherapy faces challenges in predicting treatment responses and understanding resistance mechanisms. Artificial intelligence (AI) and machine learning (ML) offer powerful solutions for cancer immunotherapy in patient stratification, biomarker discovery, treatment strategy optimization, and foundation model development.
Xinchao Wu   +4 more
wiley   +1 more source

DNA Replication Errors Drive Genome‐Wide Small Inverted Triplication Dynamics

open access: yesAdvanced Science, EarlyView.
This study provides insight into the dynamic equilibrium mechanism of a novel structural variant, small inverted triplication (SIT), which is generated by misalignment of the 3’ flap generated under DNA replication stress with palindromic sequence. Alternatively, the end sequence may fold back on itself to form an inverted fragment.
Yi Lei   +12 more
wiley   +1 more source

Deciphering the Evolution Pattern of Structural Variations Overlapped With Repetitive Sequence During Cattle Evolution

open access: yesAdvanced Science, EarlyView.
The authors complement bovine pan‐SV with massive novel structural variations (SVs) identified through long‐read sequencing of 83 globally distributed cattle breeds. Repetitive sequence‐mediated SVs (rep‐SV) exhibit distinct dynamic patterns throughout cattle sub‐speciation and/or domestication processes, including uneven distribution between chr‐X and
Zhifan Guo   +16 more
wiley   +1 more source

TNF receptor–related factor 3 inactivation promotes the development of intrahepatic cholangiocarcinoma through NF‐κB‐inducing kinase–mediated hepatocyte transdifferentiation

open access: yesHepatology, EarlyView., 2022
Abstract Background and Aims Intrahepatic cholangiocarcinoma (ICC) is a deadly but poorly understood disease, and its treatment options are very limited. The aim of this study was to identify the molecular drivers of ICC and search for therapeutic targets.
Yuto Shiode   +16 more
wiley   +1 more source

A Modular and Programmable Cas13d Platform for RNA Single Nucleotide Variant Detection

open access: yesAdvanced Science, EarlyView.
A scenario‐guided Cas13d platform enables configurable single nucleotide variant ribonucleic acid diagnostics through rule‐based guide design and ribonucleic acid binding domain engineering, supporting amplification‐free ultrasensitive detection and amplification‐coupled robust detection for accurate mutation classification in clinical tumor specimens.
Zeyu Wang   +8 more
wiley   +1 more source

Proteogenomic characterization of cholangiocarcinoma

open access: yesHepatology, EarlyView., 2022
Proteogenomic characterization of cholangiocarcinoma with therapeutic strategies Abstract Background and Aims Cholangiocarcinoma (CCA) is a highly heterogeneous cancer with limited understanding and few effective therapeutic approaches. We aimed at providing a proteogenomic CCA characterization to inform biological processes and treatment ...
Mengjie Deng   +18 more
wiley   +1 more source

Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index. [PDF]

open access: yesAm J Hum Genet, 2023
Scheller IF   +4 more
europepmc   +1 more source

Miniaturized 3D Magnetic Force Sensor via Laser‐Assisted Folding and Magnetization for Enhanced Robotic Dexterity

open access: yesAdvanced Science, EarlyView.
To achieve 3D force sensing in confined spaces such as fingertips, we developed a laser‐assisted folding and magnetization method to fabricate miniature films with precise centripetal magnetization. The resulting compact sensor delivers high force resolution, rapid response, and long‐term stability, significantly enhancing the manipulation capabilities
Yujie Huang   +10 more
wiley   +1 more source

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

open access: yesHepatology, 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   +19 more
wiley   +1 more source

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