Results 51 to 60 of about 60,805 (199)

Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24.

PLoS ONE, 2016
PurposeTo report identification of a COL17A1 mutation in a family with a corneal dystrophy previously mapped to chromosome 10q23-q24.MethodsWhole-exome sequencing was performed on DNA samples from five affected family members and two unrelated ...
Benjamin R Lin, Derek J Le, Yabin Chen, Qiwei Wang, D Doug Chung, Ricardo F Frausto, Christopher Croasdale, Richard W Yee, Fielding J Hejtmancik, Anthony J Aldave   +9 more
doaj   +1 more source

Cellular Responses to Mechanical Cues Across Scales: From Fundamental Insights to Translational Potential

Advanced Healthcare Materials, EarlyView.
This review examines how cellular behavior is regulated by mechanical cues transmitted through soft biomaterials, from single‐cell mechanosensing to tissue‐level adaptation. It highlights why physiological relevance, rather than model complexity alone, is critical for translational mechanobiology and introduces a scoring framework linking material ...
Mathias Polz, Manuel P. Kainz, Niklas Haider, Theresa Rienmüller, Kerstin Lenk, Rupert Kargl, Michele Terzano, Gerhard Sommer, Gerhard A. Holzapfel, Julia Fuchs   +9 more
wiley   +1 more source

Synonymous variants in the ATP6AP2 gene may lead to developmental and epileptic encephalopathy

Frontiers in Neurology
ObjectiveTo the literature, variants in the ATP6AP2 gene may cause abnormal nervous system development and associated neurological symptoms.MethodsWe report a patient with developmental and epileptic encephalopathy (DEE) carrying an ATP6AP2 c.858G > A
Yan Liang, Yan Liang, Yan Liang, Lin Wan, Lin Wan, Lin Wan, Huimin Yan, Huimin Yan, Huimin Yan, Xinting Liu, Xinting Liu, Xinting Liu, Jing Zhang, Jing Zhang, Jing Zhang, Gang Zhu, Gang Zhu, Gang Zhu, Guang Yang, Guang Yang, Guang Yang   +20 more
doaj   +1 more source

Broken silence: 22,841 predicted deleterious synonymous variants identified in the human exome through computational analysis [PDF]

Genetics and Molecular Biology
Synonymous single nucleotide variants (sSNVs) do not alter the primary structure of a protein, thus it was previously accepted that they were neutral. Recently, several studies demonstrated their significance to a range of diseases.
Ana Carolina Mello, Delva Leao, Luis Dias, Felipe Colombelli, Mariana Recamonde-Mendoza, Andreia Carina Turchetto-Zolet, Ursula Matte   +6 more
doaj   +1 more source

Comparison of commonly used solid tumor targeted gene sequencing panels for estimating tumor mutation burden shows analytical and prognostic concordance within the cancer genome atlas cohort

Journal for ImmunoTherapy of Cancer, 2020
Background Tumor mutation burden (TMB) is a biomarker frequently reported by clinical laboratories, which is derived by quantifying of the number of single nucleotide or indel variants (mutations) identified by next-generation sequencing of tumors.
Nicholas Bevins, Shulei Sun, Zied Gaieb, John A Thorson, Sarah S Murray   +4 more
doaj   +1 more source

Organic Materials of Tomorrow: Horizons of Artificial Intelligence

Advanced Materials, EarlyView.
This review examines machine learning techniques accelerating the discovery of organic semiconductors by linking molecular structure to properties. Key methods include graph neural networks, generative models, and active learning. Applications to organic photovoltaics demonstrate practical impact.
Harold Mena, J. Terence Blaskovits, Kun‐Han Lin, Denis Andrienko   +3 more
wiley   +1 more source

Dual Role of Tamoxifen in Enhancing STING and CEACAM1 Expression to Prime a Favorable Tumor Microenvironment for Anti‐TIM3 Immunotherapy

Advanced Science, EarlyView.
Anti‐PD‐1/PD‐L1 blockade has revolutionized cancer immunotherapy, but is ineffective against endocrine‐treated (i.e., Tamoxifen), relapsed ER+ breast cancer (BC) patients. This study provides insight into the sub‐optimal response of ER+BCs to anti‐PD‐1/PD‐L1 blockade – highlighting the induction of STING and the CEACAM1/TIM3 axis after chronic ...
Marvin Angelo E Aberin, Saurabh Singh, Soumya Chatterjee, Guang‐Zhi Sui, Yi‐Fu Wang, Ya‐Ting Lu, Yu‐Ling Lee, Kun‐Yuan Lin, Joy Khag, Ta‐Yu Liu, Shao‐Han Chang, Wai‐Mui Cheung, Hsiao‐Chin Hong, Ren‐Jun Hsu, Chen‐Yang Shen, Chia‐Wei Li, Weng‐Lang Yang, Yao‐Ming Chang, Shih‐Yu Chen, Chandan Guha, Shu‐Ping Wang   +20 more
wiley   +1 more source

Two Routes to Land: Genomic Underpinnings of Parallel Aerial Egg Deposition in Aquatic Old‐World Pila and New‐World Pomacea (Ampullariidae)

Advanced Science, EarlyView.
Comparative genomics of Gondwana‐diverged Pila and Pomacea reveals parallel evolution of aerial oviposition. Convergent chromosomal rearrangements reshape regulatory landscapes within topologically associating domains. Lineage‐specific gene family expansions and viral‐derived perivitelline proteins (PV1) underpin desiccation resistance.
Yufei Zhou, Huawei Mu, Xueying Nie, Yue Gao, Hui Wang, Ling Fang, Tiangang Luan, Monthon Ganmanee, Jian‐Wen Qiu, Jin Sun, Jack Chi‐Ho Ip   +10 more
wiley   +1 more source

Cysteine Redox State Governs the Condensation Pathway of Hendra Virus W Protein and Differentially Impacts Type I IFN and NF‐κB Signaling

Advanced Science, EarlyView.
The cysteine redox state of the Hendra virus W (WHeV) protein controls assembly into fibrils or amorphous aggregates, with residues 2–29 required for fibrillation. In cells, WHeV forms different types of nuclear condensates. Impaired ability to form redox‐sensitive, non‐filamentous condensates reduces WHeV inhibition of the NF‐κB pathway, while it ...
Frank Gondelaud, Alexandre Lalande, Giulia Pesce, Auriane Bouchet, Carole Meunier, Christophe Bignon, Denis Ptchelkine, Yu Gu, Eva Ogire, Pierre‐Yves Lozach, Denis Gerlier, Cyrille Mathieu, Sonia Longhi   +12 more
wiley   +1 more source

Ethical Precision in Nanoscale Brain Interfacing

Advanced Science, EarlyView.
As brain interfaces approach the nanoscale, precision no longer only measures—it knows, predicts, and potentially reshapes the mind. This work argues that traditional ethics fails under such conditions and proposes a shift toward continuous, operation‐based governance using the recovery–discovery framework to track, constrain, and responsibly steer ...
Guilherme Wood
wiley   +1 more source