Results 211 to 220 of about 305,564 (250)

Clinical Variability and Genotype-Phenotype Correlation in Spanish Patients with Type 1 Gaucher Disease: A Focus on Non-c.[1226A>G]; [1448T>C] Genotypes. [PDF]

Int J Mol Sci
Serrano-Gonzalo I, Bauza F, Lopez de Frutos L, Arevalo-Vargas I, Roca-Espiau M, Andrade-Campos M, Valero-Tena E, Roca-Esteve S, Iniguez D, Giraldo P.   +9 more
europepmc   +1 more source

Targeting Endogenous Lipophagy: A Novel Strategy to Enhance MSC Osteogenesis and Mineralization for Senile Osteoporosis Therapy

Advanced Science, EarlyView.
Schematic representation of the role of lipophagy in bone mesenchymal stem cells(MSCs). In healthy MSCs, functional lipophagy efficiently degrades lipid droplets to support oxidative phosphorylation and cellular energy production, thereby facilitating osteogenic differentiation and matrix mineralization.
Chaoqiang Chen, Zhidong Liu, Yanhang Sun, Xiaojun Xu, Zhexiao Lan, Junhao Zhao, Peitao Xu, Guiwen Ye, Jinteng Li   +8 more
wiley   +1 more source

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