Results 101 to 110 of about 534,986 (305)

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

Severe forms of hereditary spherocytosis in children with congenital active cytomegalovirus infection

Детские инфекции (Москва)
Congenital cytomegalovirus (CMV) infection is the cause of fetal malformations, fetal death, severe generalized disease up to death, and changes in hematopoiesis.
A. A. Komarova, H. A. Sarkisyan H. A., A. P. Khokhlova, E. A. Polyak, V. A. Vershinnikova, K. R. Baltaeva, D. R. Kantserova, V. A. Mironova, L. M. Makarova, A. L. Belaya, A. E. Atapina, I. G. Lyubeznova   +11 more
doaj   +1 more source

Bone changes in congenital syphilis

Kazan medical journal, 1926
Having examined 240 children with congenital syphilis with x-rays, M. M. Reitz could find specific bone diseases in 80% of them. In this case in infants Wegener's osteochondritis luetica, also periostitis and osteosclerosis, rarely hummosis processes in the periosteum and spongy substance were observed most often.
openaire   +1 more source

Cellular Identity Crisis: RD3 Loss Fuels Plasticity and Immune Silence in Progressive Neuroblastoma

Advanced Science, EarlyView.
Researchers discovered that therapy‐induced loss of RD3 protein in neuroblastoma triggers a dangerous shift: cancer cells become more stem‐like, invasive, and resistant to treatment while evading immune detection. RD3 loss suppresses antigen presentation and boosts immune checkpoints, creating an immune‐silent environment.
Poorvi Subramanian, Sreenidhi Mohanvelu, Sheeja Aravindan, Afsana Parveen Jahir Hussain, Sivasubramani Narayanan, Sabir Salim, Loganayaki Periyasamy, Natarajan Aravindan   +7 more
wiley   +1 more source

Evaluation of behavior in transgenic mouse models to understand human congenital pain conditions [PDF]

, 2018
BACKGROUND: Containing a brain for signal processing and decision making, and a peripheral component for sensation and response, the nervous system provides higher organisms a powerful method of interacting with their environment.
Bullock, Daniel
core  

Endothelial PDGF Signaling Dysregulation Impairs Testicular Interstitial Homeostasis in Diabetes

Advanced Science, EarlyView.
Testicular endothelial cells (TECs) function as central signaling hubs that coordinate interstitial homeostasis. Diabetes disrupts TEC‐derived PDGF signaling, silences the JUND‐MCL1 survival program in Leydig cells, and impairs peritubular function, leading to fibrosis and testosterone insufficiency.
Wenxiu Zhang, Kai Hong, Yanling Tang, Lina Cui, Xiaojian Lu, Jianxing Cheng, Yangyi Fang, Qiaoling Jiang, Ziyan Zhuang, Songzhan Gao, Hui Jiang, Qiang Liu, Jingtao Guo, Zhe Zhang, Xiaoyan Wang   +14 more
wiley   +1 more source

Single-cell analysis of cardiogenesis reveals basis for organ-level developmental defects. [PDF]

, 2019
Organogenesis involves integration of diverse cell types; dysregulation of cell-type-specific gene networks results in birth defects, which affect 5% of live births.
de Soysa, T Yvanka, Del Sol, Antonio, Gifford, Casey A, Huang, Yu, Okawa, Satoshi, Ranade, Sanjeev S, Ravichandran, Srikanth, Salunga, Hazel T, Schricker, Amelia, Srivastava, Deepak   +9 more
core  

IGFBP5 Restores Endometrial Receptivity and Rescues Implantation Failure in Polycystic Ovary Syndrome

Advanced Science, EarlyView.
Impaired endometrial receptivity contributes to the poor pregnancy outcomes in women with PCOS. The authors found that decreased endometrial IL‐22 levels and disrupted STAT3‐IGFBP5 signaling pathway contributed to impaired endometrial receptivity. Supplementation with IL‐22 or IGFBP5 exerts a protective effect on implantation failure in PCOS‐like mice,
Baoying Liao, Chuyu Yun, Hongying Shan, Yuqian Wang, Xiunan Chen, Weisi Lian, Tianliu Peng, Min Zhao, Xunsi Qin, Kailun Hu, Ping Zhou, Yue Wang, Yanli Pang, Rong Li   +13 more
wiley   +1 more source

Thalamocortical Connectivity and Microstructural Changes in Congenital and Late Blindness

Neural Plasticity, 2017
There is ample evidence that the occipital cortex of congenitally blind individuals processes nonvisual information. It remains a debate whether the cross-modal activation of the occipital cortex is mediated through the modulation of preexisting ...
N. H. Reislev, T. B. Dyrby, H. R. Siebner, H. Lundell, M. Ptito, R. Kupers   +5 more
doaj   +1 more source

A Novel Plastic Surgical Technique for Treating Congenital Entropion in Asians

Plastic and Reconstructive Surgery, Global Open, 2019
Summary:. Congenital entropion is an ocular condition involving malpositioning of the eyelid, which can result in ocular pain, conjunctival epiphora, or photophobia.
Takanori Iwayama, MD, Kazunobu Hashikawa, MD, PhD, Takeshi Fukumoto, MD, PhD   +2 more
doaj   +1 more source