Results 141 to 150 of about 217,992 (277)

P619: Three years of newborn screening for MPS1 in Ontario: Challenges of screening for the severe end of a disease continuum

Genetics in Medicine Open
Melanie Lacaria, Matthew Henderson, Ed Yeh, Sara Fernandez, Kelsey Kalbfleisch, Kristin Kernohan, Pranesh Chakraborty   +6 more
doaj   +1 more source

IGF‐1 Deficiency Serves as an Integrated Biomarker Pathogenic Driver and Predictor in Poor Ovarian Response

Advanced Science, EarlyView.
IGF‐1 deficiency underlies poor ovarian response (POR), as reduced levels in follicular fluid and granulosa cells impair antral follicle formation and compromise reproductive outcomes. Including IGF‐1 as a biomarker significantly enhances the accuracy of models predicting both PORrisk and pregnancy success.
Zhu Hu, Yuanyuan Yu, Guanyou Huang, Jinnan Li, Chao Yang, Aizhuan Long, Jia Tang, Tengxiang Chen, Shuyun Zhao, Tuo Zhang   +9 more
wiley   +1 more source

P506: Long-term results and challenges of newborn screening for classic homocystinuria in New York State

Genetics in Medicine Open
Jing Xiao, Sarah Bradley, Christopher Johnson, Carlos Saavedra-Matiz, Tara Whispell, Joseph Orsini, Michele Caggana   +6 more
doaj   +1 more source

Resolvin D5 Inhibits CXCL8 Expression in Colonic Epithelial Cells Through Activating GPR101 to Impede Neutrophil Recruitment and Consequently Alleviate Ulcerative Colitis

Advanced Science, EarlyView.
RvD5 effectively alleviates UC by inhibiting STAT1 signaling to reduce CXCL8 expression in colonic epithelial cells via activation of GPR101, which subsequently decreases the infiltration of neutrophils in the colonic mucosal epithelium. Epimedin A1, a natural allosteric inhibitor of 5‐LOX, demonstrates potential as a therapeutic agent for UC by ...
Pengxiang Guo, Yilei Guo, Yanrong Zhu, Ke Yan, Yulai Fang, Jiafeng Zhang, Yue He, Zhifeng Wei, Yufeng Xia, Yue Dai   +9 more
wiley   +1 more source

Atrophic Skeletal Muscle‐Derived Extracellular Vesicles Transfer miR‐125a‐5p to Inhibit Bone Formation in Osteoporosis during Aging

Advanced Science, EarlyView.
A muscle‐bone endocrine pathway in aging is revealed in which extracellular vesicles released from atrophic skeletal muscle (Aged‐SKM‐EVs) inhibit bone formation. These EVs deliver miR‐125a‐5p to osteoblasts, thereby suppressing the SIRT7‐Sp7 signaling axis and osteogenic differentiation.
Xiaoyan Shao, Pan Zhang, Zhidan Fan, Jiaquan Lin, Xiang Chen, Na Liu, Wang Gong, Yi He, Yining Zhou, Tianshu Shi, Yong Shi, Yuze Ma, Wentian Gao, Haosheng Wang, Depeng Fang, Chengzhi Wang, Wenshu Wu, Wenjin Yan, Jianghui Qin, Dongyang Chen, Haiguo Yu, Qing Jiang, Baosheng Guo   +22 more
wiley   +1 more source

Activated Platelet–Released Heat Shock Protein 90α Triggers Autophagy‐Dependent Neutrophil Extracellular Trap Formation and Amplifies Sepsis

Advanced Science, EarlyView.
HSP90α is significantly upregulated in platelets from sepsis patients, with its origin from megakaryocyte‐derived trafficking. Furthermore, activated platelets secrete HSP90α into the extracellular space in both free and exosome‐associated forms. Finally, extracellular HSP90α directly engages TLR4 on neutrophils to induce autophagy, leading to NET ...
Chengbo Wang, Maodong Leng, Chenchen Sun, Jingyu Cao, Linfei Li, Yangyang Jia, Yongshuai Han, Yuchun Liu, Yaodong Zhang, Chenglong Zhang, Yingli Men, Ningyuan Liu, Yibing Cheng, Yixia Zhang, Ya Li, Zhenlong Li, Lidan Cui, Xiangzhan Zhu   +17 more
wiley   +1 more source

P560: Implementing homocysteine into first-tier mass spectrometry tests in newborn screening for detection of homocystinurias in New York State

Genetics in Medicine Open
Jing Xiao, C. Austin Pickens, Konstantinos Petritis, Matthew Wojcik, Carlos Saavedra-Matiz, Joseph Orsini, Michele Caggana   +6 more
doaj   +1 more source

Connexin43 Deficiency Leads to Ventricular Arrhythmias by Reprogramming Proline Metabolism

Advanced Science, EarlyView.
The study demonstrated that connexin43 (Cx43) knockout caused arrhythmic phenotype and decreased proline content in vitro and in vivo. Mechanistically, Cx43 interacts with the amino acid transporter SNAT2 (sodium‐dependent neutral amino acid transporter), and its deficiency disrupts proline transport and metabolism.
Hangying Ying, Hangping Fan, Yunhe Wang, Ruhong Jiang, Dongsheng Cai, Hui Cheng, Hao Wang, Chenyang Jiang, Ping Liang   +8 more
wiley   +1 more source

Newborn Screening in Fabry Disease. [PDF]

Int J Mol Sci
Olszewska M, Schwermer K, Pawlaczyk K.
europepmc   +1 more source

Newborn Hearing Screening [PDF]

Journal of Midwifery & Women's Health, 2016
openaire   +2 more sources