Results 101 to 110 of about 48,210 (290)

Embedded CRISPRi Enhances Gene‐Silencing Efficiency in Drosophila

Advanced Science, EarlyView.
Current CRISPR interference (CRISPRi) technology in Drosophila has limited efficiency. This study introduces the emCRISPRi platform, which significantly enhances transcriptional silencing efficacy by embedding inhibitory domains within the dCas9 architecture.
Pengchong Fu, Xuedi Zhang, Ying Zhou, Jie Zheng, Angyang Sun, Kailong Zhuang, Weiwei Bao, Guanjun Gao   +7 more
wiley   +1 more source

The socioeconomic epidemiology of inherited retinal diseases in Portugal

Orphanet Journal of Rare Diseases
Background Inherited retinal diseases (IRDs) are a group of rare degenerative disorders of the retina that can lead to blindness from birth to late middle age.
Ana Marta, João Pedro Marques, Cristina Santos, Luísa Coutinho-Santos, Sara Vaz-Pereira, José Costa, Pedro Arede, Raquel Félix, Sara Geada, Nuno Gouveia, Rui Silva, Margarida Baptista, Miguel Lume, Ricardo Parreira, Célia Azevedo Soares, Maria João Menéres, Carolina Lemos, João Melo Beirão   +17 more
doaj   +1 more source

From Genetic Diagnosis to Therapeutic Implementation in Retinal Diseases: Translational Advances and Persistent Bottlenecks

Biomedicines
Background: Retinal and optic nerve disorders are a leading cause of irreversible visual impairment worldwide. Advances in molecular genetics—including next-generation sequencing, genome-wide association studies, and gene-based therapeutic technologies ...
Feliciana Menna, Corrado Pinelli, Laura De Luca, Alessandro Meduri, Antonio Baldascino, Stefano Lupo, Enzo Maria Vingolo   +6 more
doaj   +1 more source

A Nanoparticle‐Integrated Complete Manufacturing Pipeline of Chemically Engineered Exosomes

Advanced Science, EarlyView.
We report a novel manufacture technology of chemically engineered exosomes. The four steps of manufacturing, i.e., biogenesis, loading, isolation, and storage, are integrated by the use of a nanoparticle. The manufacture technology incorporates three innovative components, i.e., a new nano‐bio effect, a new composite nanoparticle, and a new isolation ...
Xiaowei Wen, Zixing Xu, Zerun Hao, Yanming Chen, Kai Xie, Haofan Yin, Xueying Wang, Jie Min, Sihan Sun, Baiding Chen, Chengxiu Ling, Mingming Xu, Yizhao Chen, Gang Ruan   +13 more
wiley   +1 more source

Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery

Advanced Science, EarlyView.
Human‐relevant methods are essential for modern chemical safety assessment. This study helps define the capabilities and boundaries of an in vitro testing battery for developmental neurotoxicity by exploring its biological applicability domain. By linking neurodevelopmental disease‐related pathways to key neurodevelopmental processes, the work enhances
Eliska Kuchovska, Kristina Bartmann, Georgea Raad, Mats Schade, Luiz Ladeira, Arif Dönmez, Jördis Klose, Nicolai Görts, Denis Polozij, Lynn‐Christin Saborowski, Farina Bendt, Bernard Staumont, Liesbet Geris, Katharina Koch, Ellen Fritsche   +14 more
wiley   +1 more source

Macrophage Extracellular Traps in Immunity and Cancer

Advanced Science, EarlyView.
As a macrophage‐mediated innate defense mechanism, the dysregulated release of METs drives chronic inflammation and influences tumor progression. Furthermore, METs exhibit a functional duality within the tumor microenvironment, capable of both promoting and suppressing tumor development.
Junyao Li, Eugenie Nepovimova, Adam Grundel, Lukas Peter, Qinghua Wu, Kamil Kuca   +5 more
wiley   +1 more source

Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers. [PDF]

, 2016
PurposeWe determined the phenotypic variation, disease progression, and potential modifiers of autosomal dominant retinal dystrophies caused by a splice site founder mutation, c.828+3A>T, in the PRPH2 gene.MethodsA total of 62 individuals (19 families)
Birch, David G, Bowne, Sara J, Conneely, Karen N, Daiger, Stephen P, Hughbanks-Wheaton, Dianna K, Shankar, Suma P, Stone, Edwin M, Sullivan, Lori S   +7 more
core  

Cis‐ and Trans‐Regulatory Factors Independently Shape Phenotypic Heterogeneity of Retinitis Pigmentosa

Advanced Science, EarlyView.
A zebrafish model carrying an identical human RHO S334X allele reveals two independent genetic layers shaping retinitis pigmentosa (RP) severity: a protective 3‐bp cis‐regulatory insertion that attenuates transgene expression, and a dominant trans‐acting modifier that restores a severe phenotype.
Cong Cui, Kotone Nakagawa, Takumi Tateno, Ayaka Dan, Dexin Meng, Yoshihiro Omori, Soma Tomihara, Suzuri Okamoto, Shigeru Sato, Motokazu Tsujikawa   +9 more
wiley   +1 more source

Investigating subsumption in DL-based terminologies: A case study in SNOMED CT [PDF]

, 2004
Formalisms such as description logics (DL) are sometimes expected to help terminologies ensure compliance with sound ontological principles. The objective of this paper is to study the degree to which one DL-based biomedical terminology (SNOMED
Bodenreider, Olivier, Burgun, Anita, Kumar, Anand, Smith, Barry   +3 more
core   +1 more source

An Activity‐Dependent NEPAS–PTX3 Axis Links Neurovascular and Myelin Deficits to Cognitive Impairment

Advanced Science, EarlyView.
An activity‐dependent pathway links prefrontal circuit hypoactivity to cognitive impairment. Reduced PVA–mPFC activity upregulates NEPAS, which suppresses PTX3 secretion, leading to impaired angiogenesis, myelin deficits, and memory decline. Rescue is achieved by NEPAS knockdown or chemogenetic circuit activation.
Boya Hu, Zifei Chen, Bingmei Sun, Jiale Gao, Jiale Xu, Xiaochun Guo, Fenfei Gao, Zhongsi Wang, Jie Wu, Xiaoyu Ji, Peipei Liu, Bing Huang   +11 more
wiley   +1 more source