Results 231 to 240 of about 305,611 (291)

Serum Markers of Bone Turnover and Bone Remodeling in Children with Noonan Syndrome: Genotype-Phenotype Correlation. [PDF]

Genes (Basel)
Chiarito M, Farella I, Lattanzio C, Vitale R, Urbano F, Guida P, Piacente L, Muggeo P, Faienza MF.   +8 more
europepmc   +1 more source

Mechanosensitive Piezo1/Osteocalcin/Irisin Axis Protects Against Disuse‐Induced Muscle Atrophy

Advanced Science, EarlyView.
Mechanical unloading suppresses bone Piezo1 expression, which reduces circulating undercarboxylated osteocalcin (unOCN). unOCN reduction subsequently exacerbates IMM‐induced Fndc5/Irisin decrease and drives severe muscle atrophy. Bone Piezo1 activation or exogenous osteocalcin/Irisin ameliorate muscle atrophy, while muscle‐specific Gprc6a or Fndc5 ...
Zhaolu Wang, Xiuying Jiang, Xi Sun, Hao Chen, Jianjun Jin, Xin'e Shi   +5 more
wiley   +1 more source

Identification of Novel <i>IL-10RA</i> Variant in Infantile-Onset Inflammatory Bowel Disease: A Case Series With Preliminary Genotype-Phenotype Correlation From Two Chinese Families. [PDF]

Case Rep Med
Guan C, Ma Y, Zhang X, Zhang R, Jiang Y, Liu S.   +5 more
europepmc   +1 more source

Paternal Caffeine Exposure Programs Offspring Stress Vulnerability via Sperm Dlk1‐Dio3 Imprinting‐Directed Remodeling of a Novel Neural Circuit

Advanced Science, EarlyView.
The study elucidates that paternal preconception stress can drive offspring hyperresponsivity of the stress system via hypomethylation of a specific DNA region in sperm. This key link is confirmed in a cohort of prospective fathers: the epigenetic alteration is associated with elevated stress hormone levels.
Mengxi Lu, Gaole Dai, Sen Zhu, Shuai Zhang, Tingting Wang, Yuan Meng, Fang Yang, Xiaoyi Han, Hui Wang, Hao Kou, Dan Xu   +10 more
wiley   +1 more source

<i>NUAK2</i> Pathogenic Variants Are Definitively Associated with Neural Tube Defects in Humans: New Genotype-Phenotype Correlation and Review of the Literature. [PDF]

Diagnostics (Basel)
Mastromoro G, Dello Russo C, Mariani S, Bucossi S, Riccardi R, Pal A, Squitti R, Dangi M, Pizzuti A, Rongioletti MCA.   +9 more
europepmc   +1 more source

Metabolism‐Based Biomarkers for Rapid Phenotypic Antibiotic Susceptibility Testing

Advanced Science, EarlyView.
Metabolic differences emerging after antibiotic exposure provide rapid phenotypic signals of susceptibility and resistance. This review summarizes metabolic biomarkers for rapid phenotypic AST, associated with nutrient uptake, respiratory activity, metabolic reprogramming, and enzymatic function. ABSTRACT The accelerating global crisis of antimicrobial
Sha Yu, Bayinqiaoge, Xi Lu, Xin Wang, Rongfeng Wang, Yi Li, Shi‐Yang Tang, Chengchen Zhang   +7 more
wiley   +1 more source

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation associated with KIF11 pathogenic variant: case report and genotype-phenotype correlation analysis. [PDF]

BMC Ophthalmol
Peng J, Xie Y, Wang H, Huang L, Yang Y, Li N.   +5 more
europepmc   +1 more source

The RNA‐Binding Protein PARN Remodeled 3′ UTR Structure Defines Poly(A)‐Loading Sites to Mediate Immunoglobulin Homeostasis

Advanced Science, EarlyView.
ABSTRACT Class Switch Recombination (CSR) is essential for generating high‐affinity antibody isotypes from IgM during adaptive humoral responses. Despite well‐established roles for various transcription factors, whether CSR is subject to dedicated post‐transcriptional control represents a significant gap in knowledge.
Siyuan Sun, Chen Yang, Xiaoyu Wang, Naijing Hu, Shengyao Zhang, Xinchun Li, Yu Chen, Jianan Zhai, Xiangfeng Tang, Wei Lu, Chenxu Lu, Changchang Cao, Weiru Yu, Wenhao Wu, Xiaonan Nie, Fengchao Wang, Bing Fang, Fazheng Ren, Yixuan Li, Juan Chen   +19 more
wiley   +1 more source

Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye. [PDF]

Mol Syndromol
Dinçsoy Bir F, Uyguner ZO, Karaman B, Baykal C, Büyükbabani N, Tüysüz B, Gedikbaşı A, Uyanık B, Toksoy G, Kara B, Kayserili H.   +10 more
europepmc   +1 more source

A Skull Bone Marrow‐to‐Brain Axis Links Osteoblastic Activity to Myeloid Cell Trafficking, Cerebral Blood Flow, and Cognition in Alzheimer's Progression

Advanced Science, EarlyView.
This study reveals that Alzheimer's disease–linked APP expression in bone‐forming cells drives skull bone marrow remodeling and alters its vascular connections to the brain. These changes disrupt immune cell trafficking, cerebral blood flow, and cognition. Targeting bone marrow macrophages restores brain function, highlighting a previously unrecognized
Lei Xiong, Dong Sun, Hao‐Han Guo, Daehoon Lee, Zhipeng Liu, Lin Mei, Wen‐Cheng Xiong   +6 more
wiley   +1 more source