Results 231 to 240 of about 796,939 (318)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Homotypic interactions between SLAMF1 receptors on innate T cells and neutrophils regulate killing of fungi. [PDF]

PLoS Pathog
Lau LS, Lichtenberger S, Taira CL, Klein BS, Wüthrich M.   +4 more
europepmc   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source

APOBEC3A is the predominant global editor of cytosines in human mRNAs and in single-strand RNA viruses. [PDF]

G3 (Bethesda)
Kockler ZW, Bostan H, Klimczak LJ, Hsiao YC, Dennen MS, Cook ME, Mertz TM, Perelygina L, Kazanov MD, Li JL, Roberts SA, Gordenin DA.   +11 more
europepmc   +1 more source

USB1 deficiency disrupts neutrophil maturation via RNA dysregulation independent of global pre‐mRNA splicing

Animal Models and Experimental Medicine, EarlyView.
This graphical abstract illustrates the essential role of USB1 in neutrophil maturation. In normal myeloid cells, USB1 acts as an RNA exonuclease, trimming RNA tails to maintain proper RNA network function, which supports the differentiation of myeloid progenitor cells into mature neutrophils.
Hang Li, Guiying Shi, Jiaming Tang, Yiying Huang, Jie Wang, Xuepei Lei, Lin Bai   +6 more
wiley   +1 more source

Enhancing Enzyme Activity With Mutation Combinations Guided by Few‐Shot Learning and Causal Inference

Angewandte Chemie, EarlyView.
We present an integrated workflow that predicts activity‐enhancing mutation combinations from minimal experimental data. By proposing in vivo unit yield (yield/expression) as a surrogate for kcat/Km through causal inference, and visualizing local activity landscape, it effectively guides product yield improvement. ABSTRACT Designing enzyme sequences to
Lin Guo, Xiaoguang Yan, Yali Lu, Shengxin Nie, Mingyue Ge, Yukun Li, Weiguo Li, Xiaochun Zhang, Dongmei Liang, Yihan Zhao, Hongxiao Tan, Xiling Chen, Shilong Fan, Yefeng Tang, Jianjun Qiao, Boxue Tian   +15 more
wiley   +2 more sources

Valorization of Food By-Products into a Zero-Waste Broth: Effects of Yeast Extract on Composition and Sensory Properties. [PDF]

Molecules
Otlewska A, Dybka-Stępień K, Rajkowska K, Koziróg A, Nowak A, Piotrowska M, Czerbniak-Włodarczyk A, Czyżowska A, Grzelczyk J, Kołczyk A.   +9 more
europepmc   +1 more source

GS‐9620 alleviates psoriasis‐like inflammation by regulating autophagy in keratinocytes

Animal Models and Experimental Medicine, EarlyView.
Psoriasis is an immune‐mediated inflammatory disease of the skin characterized by excessive proliferation and abnormal differentiation of keratinocytes. GS‐9620 can increase the expression of ATG5, ATG7 and ATG16L1, thereby regulating the autophagy of keratinocytes and inhibiting the secretion of related inflammatory factors.
Yansi Lyu, Wei Zhou, Pei Zhang, Chen Lin, Xin Wen, Zigang Zhao, Guoqiang Zhang, Qian Zhang, Si Chen   +8 more
wiley   +1 more source

Comparative Profiling of Yeast Communities in Kefir Grains and Liquid Kefir Using ITS Amplicon Next-Generation Sequencing. [PDF]

Int J Food Sci
Kurniawan, Milanda T, Kusuma SAF.
europepmc   +1 more source

Selenium Nanomaterials for Wound Healing: Synergistic Strategies from Anti‐Infection to Tissue Regeneration

Advanced NanoBiomed Research, EarlyView.
Selenium nanoparticles (SeNPs) are emerging as multifunctional platforms for wound healing, integrating antimicrobial, anti‐inflammatory, and proregenerative activities. This review summarises key mechanisms and recent advances in SeNP‐enabled composite dressings, immunomodulatory nanocomposites, microenvironment‐responsive hydrogels, photothermal and ...
Yangxia Chen, Xiaoshuang Liang, Sirui Li, Shuoshan Li, Wei Liu, Yingping Lin, Siqi Li, Zehang Zhang, Judun Zheng, Tianfeng Chen, Rongyi Chen   +10 more
wiley   +1 more source