Results 151 to 160 of about 217,992 (277)

Promotion of DFU Wound Healing via BRG1–COL16A1 Axis in Fibroblasts

Advanced Science, EarlyView.
In normal wound healing, transcription factor BRG1 is upregulated and binds the COL16A1 promoter to enhance its expression, promoting fibroblast proliferation, migration, contraction, extracellular matrix deposition, and granulation tissue formation, thus accelerating wound closure.
Penghui Wang, Jiaming Sun, Ying Wang, Bichen Ren, Yuxin Liu, Yunhan Liu, Liang Chen, Lu Yu, Tao Dai, Li Yu, Zhihui Dong   +10 more
wiley   +1 more source

Newborn Screening-A Worldwide Endeavour to Protect. [PDF]

Int J Neonatal Screen
Bonham JR, Webster D, Gaviglio A, Khan AH, Howell RR, Schielen PCJI.   +5 more
europepmc   +1 more source

F‐Box and Leucine‐Rich Repeat Protein 4 (FBXL4) Maintains Sarcomere Integrity and Cardiac Function by Enhancing K48‐Linked Ubiquitinated Degradation of Profilin‐1 (PFN1)

Advanced Science, EarlyView.
Schematic diagram depicting the proposed signaling mechanisms underlying the effects of FBXL4 in the setting of cardiac hypertrophy. Under hypertrophic stimulation, cardiomyocytes‐specific overexpression FBXL4 maintains sarcomere integrity and cardiac function by enhancing K48‐linked ubiquitinated degradation of PFN1 at the K70 site.
Xingda Li, Xueqi He, Xinyuan Hao, Yu Zhang, Xin Zhao, Shuang Wang, Zhenru Wang, Haonan Du, Hongda Li, Lian Yi, Zhimin Du, Weijie Du   +11 more
wiley   +1 more source

The relationship between mothers' health literacy and their knowledge and attitudes towards newborn screening. [PDF]

J Community Genet
Sert S, Unsal A, Arslantas D, Arslangiray O, Dinleyici M.   +4 more
europepmc   +1 more source

Tobacco Smoke Exposure From Prenatal To Adolescent Periods Drives IBD Pathogenesis: Dynamic DNA Methylation Signatures Across Lifespan Stages

Advanced Science, EarlyView.
This study illustrates that maternal smoking during pregnancy (MSDP) is an independent risk factor for IBD in offspring, and DNA methylation serves as a key mechanistic pathway connecting early‐life smoking exposure with IBD risk in offspring. That highlights the urgent need for preventive interventions targeting prospective parents and minors to ...
Han Zhang, Jianhui Zhao, Jie Chen, Xinyi Ma, Siyun Zhou, Alexandra Noble, Rahul Kalla, Judith Wellens, Kun Liu, Evropi Theodoratou, Jack Satsangi, Xue Li   +11 more
wiley   +1 more source

Integrated Newborn Screening in Nigeria: The Way Forward, A Workshop Report. [PDF]

Int J Neonatal Screen
Folayan OS, Orimadegun BE, Ayede AI, Inusa BP, Kase MK, Anetor JI.   +5 more
europepmc   +1 more source

Depletion of the RNA‐Editing Enzyme ADAR1 Invigorates the Antitumor Immunity of NK Cells

Advanced Science, EarlyView.
ADAR1 is upregulated in NK cells from melanoma patients, impairing their function. Its loss enhances NK cell tumor infiltration and cytotoxicity in vitro and in vivo. Mechanistically, ADAR1 deficiency destabilizes CD38 mRNA to reduce its expression, thereby increasing NK cell mobility and killing, which nominates it as a therapeutic target for NK cell ...
Shuhan Chen, Di Lu, Rukang Liang, Weikeng Tan, Erming Zhao, Sihuang Wu, Xintong Li, Yulong Song, Miaojian Wan, Xiaoyuan Xie, Qi Zhang, Qiuli Liu   +11 more
wiley   +1 more source

Semi-automated genomic newborn screening highlights complexities in reporting. [PDF]

NPJ Genom Med
Chowdhury A, Marri S, Anastasi L, Ashenden A, Rozek T, Feng J, DeJong L, Kenyon R, Kaczorowski D, Nguyen H, Lam K, Stallard K, Merlin T, Ranieri E, De Sousa S, Smith N, Kulkarni A, Saxon B, Bratkovic D, Barnett C, Siu CW, Scott HS, King J, Kassahn KS.   +23 more
europepmc   +1 more source

Genetic Diagnosis and Discovery Enabled by Large Language Models

Advanced Science, EarlyView.
We demonstrate that large language models (LLMs) can facilitate genetic diagnosis and discovery. LLMs were used to solve four types of genetic problems of sequentially increased complexity. An LLM‐based pipeline could analyze genetic variants in the genomic sequences of human hearing loss or rare genetic disease patients and assist in identifying ...
Tao Tu, Khaled Saab, Weida Liu, Zhouqing Fang, Zhuanfen Cheng, Svetolik Spasic, Maja Djurisic, Hiroaki Mohri, Wenlong Ren, Anil Palepu, Juraj Gottweis, Alan Karthikesalingam, Kavita Kulkarni, Annalisa Pawlosky, Devon Bonner, Elijah Kravets, Shruti Marwaha, Hector R. Mendez, Matthew T. Wheeler, Jonathan A. Bernstein, Undiagnosed Diseases Network, Cheng‐Yu Tsai, Chen‐Chi Wu, Konstantina M. Stankovic, Vivek Natarajan, Gary Peltz   +25 more
wiley   +1 more source

Advances and Gaps in Global Newborn Screening for Sickle Cell Disease. [PDF]

Int J Neonatal Screen
Shook LM, Ware RE.
europepmc   +1 more source