Results 211 to 220 of about 3,751,417 (261)

Molecular Genetics and Reproductive Genomic Medicine in Cleft Lip and Palate: Current Evidence, Preimplantation Testing, and Clinical Translation-A Narrative Review. [PDF]

Int J Mol Sci
Fan R, Shen H, Liu Y, Ji T, Zhang L, Ma X.   +5 more
europepmc   +1 more source

A Rare De Novo Missense Mutation in IFT122 Confers a Genetic Susceptibility Factor of Idiopathic Pediatric Uveitis Via Trio‐based Whole‐Exome Sequencing

Advanced Science, EarlyView.
A rare de novo IFT122‐A773E variant is identified in idiopathic pediatric uveitis and shown to exacerbate retinal inflammation and barrier dysfunction. Mechanistically, the variant enhances IFT43 interaction, elevates calcium signaling, and activates the MEK/ERK/FRA1 axis, revealing a previously unrecognized cilia‐associated pathway that may increase ...
Qian Zhou, Jiaxing Huang, Yilin Wang, Xingran Li, Xianyang Liu, Lingyu Dai, Hongshun Li, Qingfeng Wang, Jiangyi Liu, Guannan Su, Wanyun Zhang, Yang Deng, Qingfeng Cao, Yujie Lai, Xiang Luo, Changwei Huang, Ling Chen, Shengping Hou, Peizeng Yang   +18 more
wiley   +1 more source

Impacts of DNA ligase I genotypes on Taiwan Parkinson's disease. [PDF]

Biomedicine (Taipei)
Chen CH, Chang WS, Tsai CW, Bau DT, Hsu SW, Hong KT, Tsai CH, Tsai FJ, Lu MK, Yang JS.   +9 more
europepmc   +1 more source

A pH‐Switchable Cerium Single‐Atom Enzyme for Peri‐Implantitis Therapy via JAK‐STAT Signaling Axis‐Mediated Macrophage Reprogramming

Advanced Science, EarlyView.
A pH‐switchable cerium single‐atom enzyme is developed for stage‐specific peri‐implantitis therapy. Acidic conditions trigger antibacterial peroxidase‐like activity, whereas neutral conditions activate an antioxidant superoxide dismutase ‐ and catalase ‐like enzymatic relay. This microenvironment‐adaptive catalytic strategy suppresses the IL‐6/JAK‐STAT
Xiaomin Xia, Haojie Wu, Xingyun Li, Lining Liu, Kaiqing Song, Jinpei Cui, Jie Liu, Jiaxuan Yin, Emtiaz Ahmed, Yusuke Yamauchi, Xue Li   +10 more
wiley   +1 more source

How Nutrient Deficiencies Impact the Oral Mucosa and How to Manage Them: A Narrative Review. [PDF]

Nutrients
Starzyńska P, Sokołowska A, Bociong K, Kłosek S.   +3 more
europepmc   +1 more source

Biochemically Constrained Multi‐Omics Integration Reveals Protein–Metabolite Dependencies Across Diseases

Advanced Science, EarlyView.
ProMetNet introduces a biologically constrained deep learning framework for proteo‐metabolomic integration by embedding Reactome‐derived pathway topology into neural networks. It captures non‐linear molecular dependencies and pathway‐level metabolic reorganization, enabling interpretable discrimination.
Minghui Zhao, Na Zhou, Ruotong Liu, Xiaofei Li, Jian Li, Fuzhong Xue, Qingzhen Hou   +6 more
wiley   +1 more source

Vitamin B deficiency and sarcopenia: an integrated narrative review of metabolic, inflammatory, endoplasmic reticulum stress, and myokine signaling pathways. [PDF]

J Yeungnam Med Sci
Kwon K, Lee S, Kwon J, Kim SW.
europepmc   +1 more source

Dysregulation of the MACF1‐Rab14/KIF16B‐FGFR Vesicular Trafficking Axis Skews MSC Lineage Commitment in Glucocorticoid‐Induced Osteoporosis

Advanced Science, EarlyView.
Under normal conditions, MACF1 interacts with Rab14 and facilitates KIF16B‐mediated FGFR vesicle trafficking along microtubules to the plasma membrane, thereby supporting BMSC differentiation. In contrast, chronic GC exposure suppresses MACF1 expression, disrupting this transport and causing intracellular FGFR retention, which blunts osteogenic ...
Peihong Su, Ye Tian, Fan Zhao, Jing Li, Suryaji Patil, Chunyu Zhu, Yujia Tian, Junrong Wang, Jiating Liu, Aoqi Xiang, Hua Guan, Lusha Zhang, Xiaochang Chen, Airong Qian, Qi Yu   +14 more
wiley   +1 more source

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics. [PDF]

Clin Genet
Cree IA, Arends MJ, Khoury JD, Denton ERE, Gill AJ, Lazar AJ, Frayling IM, Pfister SM, Rubin MA, Leite KRM, Dalgleish R, Bruford EA, Plon SE, Hamosh A, Walsh MF, Goldman-Lévy G, Wijesinghe H, Foulkes WD, Lokuhetty D.   +18 more
europepmc   +1 more source

OTUD6A‐Mediated Deubiquitination of PRDX1 Protects Against Oral Ulcer by Restoring Mitochondrial Function

Advanced Science, EarlyView.
In human oral keratinocytes, OTUD6A promoted cell migration by deubiquitinating and stabilizing PRDX1. Conversely, OTUD6A deficiency reduced PRDX1 stability, triggering mitochondrial dysfunction and aggravating OU progression. ABSTRACT Oral ulcers (OU), as the most highly prevalent and recurrent oral mucosal lesion, have an unclear pathogenesis that ...
Xiaoyu Sun, Ruiwei Jia, Xingbei Pan, Rui Huang, Jiahong Chen, Ziyi Yao, Lei Yin, Jun Ma, Hongjieliang Wang, Xinyu Huang, Yilin Ma, Yifan Ping, Yuanyuan Chen, Huining Wang, Shengbin Huang, Guang Liang   +15 more
wiley   +1 more source