Results 251 to 260 of about 1,116,097 (338)

Exome Sequencing Reveals the Genetic Architecture of Non‐syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene

Advanced Science, EarlyView.
Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial defects. Exome sequencing of 214 sporadic cases sheds new light on its genetic architecture and identifies many candidate pathogenic variants. Furthermore, functional studies establish BOC as a novel causal gene and reveal an unusual two‐locus model of inheritance via the epistatic
Qing He, Min Yu, Yuhua Jiao, Yizhu Xu, Xuqin Liang, Wenbin Huang, Linping Xu, Yuxia Hou, Zhanping Ren, Beile Lyu, Zhenwei Qian, Pengpeng Liu, Jing Zhou, Huimei Huang, Chunyan Yin, Huaxiang Zhao, Yi Ding   +16 more
wiley   +1 more source

Mechanical performance dataset for alloy with applications at low temperatures. [PDF]

Sci Data
Tang H, Chen Z, Yao X, Xu Z.
europepmc   +1 more source

Development of calculation parametric model labor and cost of software products based on high-level language programming

, 2012
Viktoriia Bortnikova
openalex   +2 more sources

Genetic Deconvolution of Embryonic and Maternal Cell‐Free DNA in Spent Culture Medium of Human Preimplantation Embryo Through Deep Learning

Advanced Science, EarlyView.
DECENT is a deep learning method that enhances noninvasive preimplantation genetic testing by accurately reconstructing embryonic copy number variations (CNVs) from cell‐free DNA in spent embryo culture media. By mitigating maternal contamination, DECENT improves diagnostic accuracy, even with high contamination levels, offering a reliable, noninvasive
Zhenyi Zhang, Jie Qiao, Yidong Chen, Peijie Zhou   +3 more
wiley   +1 more source

From Mutation to Prognosis: AI-HOPE-PI3K Enables Artificial Intelligence Agent-Driven Integration of PI3K Pathway Data in Colorectal Cancer Precision Medicine. [PDF]

Int J Mol Sci
Yang EW, Waldrup B, Velazquez-Villarreal E.   +2 more
europepmc   +1 more source

Designing Tunable DNA Condensates to Control Membrane Budding Transformation in Synthetic Cells

Advanced Science, EarlyView.
In giant unilamellar vesicles (GUVs), membrane wetting of encapsulated liquid‐liquid phase‐separated DNA condensates can be precisely triggered post‐fabrication using photoactivatable DNA‐lipid linkers. On free‐standing membranes, interactions between DNA condensates and the membrane lead to outward budding, resembling exocytosis.
Nastasja Kaletta, Sophia Burick, Yusuf Qudbuddin, Petra Schwille   +3 more
wiley   +1 more source

Implementing Large Language Models in Health Care: Clinician-Focused Review With Interactive Guideline.

J Med Internet Res
Li H, Fu JF, Python A.
europepmc   +1 more source

Estimation of key indicators for bibliometric analysis in the applications of artificial intelligence in rheumatology. [PDF]

Rheumatol Adv Pract
Polyzou M, Baraliakos X.
europepmc   +1 more source

Post‐Translational Modifications in Cilia and Ciliopathies

Advanced Science, EarlyView.
This review synthesizes current understanding of post‐translational modifications (PTMs) in ciliary proteins and emphasizes their roles in ciliary formation, homeostasis, and signaling. This review also discusses the implication of PTM dysregulation in ciliopathies and explores therapeutic strategies targeting PTM‐modifying enzymes.
Jie Ran, Jun Zhou
wiley   +1 more source

Galaxy QCxMS for straightforward semi-empirical quantum mechanical EI-MS prediction. [PDF]

GigaByte
Rojas WY, Ahmad Z, Jakiela J, Hecht H, Klánová J, Price EJ.   +5 more
europepmc   +1 more source