Results 131 to 140 of about 328,264 (242)

Deciphering the Impact of RAC1‐SPTAN1 in ARPKD Cystogenesis Using Multifaceted Models

Advanced Science, EarlyView.
Distal/connecting tubules expressing SLC8A1 have been suggested as a potential origin of ARPKD cysts. SPTAN1 has been identified as a key molecule in ARPKD cyst formation. Restoring SPTAN1 in PKHD1−/− organoids reduced cyst formation, normalized calcium levels, and decreased RAC1/c‐FOS expression, highlighting SPTAN1's role in ARPKD and the potential ...
Shohei Kuraoka, Yuhei Higashi, Suguru Saito, Solmaz Pourgonabadi, Honami Honjoh, Sho Ishigaki, Peter C. Harris, Lisa M. Satlin, Michifumi Yamashita, Ryuji Morizane   +9 more
wiley   +1 more source

Integration of chromosomal microarray analysis and whole-exome sequencing for prenatal diagnosis of fetuses with cardiac ultrasound anomalies. [PDF]

Front Genet
Wu Y, Chen G, Yang F, Liu X, Qiang Y, Wu R, Liu F, Cheng W, Yuan J.   +8 more
europepmc   +1 more source

Ultrahigh‐Linear Bio‐Inspired Janus Elastomeric Strain Sensor with High Sensitivity and Stretchability via Surface Wrinkle Engineering

Advanced Science, EarlyView.
A bio‐inspired Micro‐wrinkled Janus elastomeric flexible strain sensor mimicking wrinkled‐leaf viburnum is developed. Endowed with a synergistic sensing mechanism including wrinkle‐guided microcracks, modulus‐gradient‐driven strain division, and a parallel conductive circuit, it achieves ultra‐high linearity, sensitivity, wide strain range, and ...
Jing Lin, Ye Li, Simi Yu, Xing Cheng, Longxin Qian, Yufei Chen, Womin Li, Zhipeng Yang, Yinlei Lin, Dechao Hu, Jianyi Luo, Lan Liu   +11 more
wiley   +1 more source

A Solution for Exosome‐Based Analysis: Surface‐Enhanced Raman Spectroscopy and Artificial Intelligence

Advanced Intelligent Discovery, EarlyView.
Exosomes are emerging as powerful biomarkers for disease diagnosis and monitoring. This review highlights the integration of surface‐enhanced Raman spectroscopy with artificial intelligence to enhance molecular fingerprinting of exosomes. Machine learning and deep learning techniques improve spectral interpretation, enabling accurate classification of ...
Munevver Akdeniz, Zakarya Al‐Shaebi, Omer Aydin   +2 more
wiley   +1 more source

An exploratory microarray analysis of estrogen-mediated gene expression in central pathways that control energy balance in female rats (Rattus norvegicus). [PDF]

BMC Res Notes
Lang H, Burch K, Sloan D.
europepmc   +1 more source

gnSPADE: Incorporating Gene Network Structures Enhances Reference‐Free Deconvolution in Spatial Transcriptomics

Advanced Intelligent Systems, EarlyView.
gnSPADE integrates gene‐network structures into a probabilistic topic modeling framework to achieve reference‐free cell‐type deconvolution in spatial transcriptomics. By embedding gene connectivity within the generative process, gnSPADE enhances biological interpretability and accuracy across simulated and real datasets, revealing spatial organization ...
Aoqi Xie, Yuehua Cui
wiley   +1 more source

Application of chromosome microarray analysis and karyotyping in fetal cardiac abnormalities. [PDF]

Front Genet
Guo Y, Xin X, Zhou L, Huang J.
europepmc   +1 more source

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang, Shuangzhong Chen, Guanping Dong, Suhong Yang, Ping Wang, Qiong Zhou, Pingping Wang   +6 more
wiley   +1 more source

Application of chromosomal microarray analysis and trio whole-exome sequencing in first-trimester prenatal diagnosis for high-risk pregnancies. [PDF]

BMC Pregnancy Childbirth
Zhang Q, Cheng Y, Tang J, Li J, Cao Y, Huang D, Wang S, Zhu J.   +7 more
europepmc   +1 more source

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe, Abbey A. Scott, Lukas Kruidenier, Jessie Conta, Darci L. Sternen, Sarah V. Clowes Candadai, Shannon M. Stasi, Julia Parish‐Morris, Megan Sikes, Margaret P. Adam, Anita E. Beck, Jennifer C. Hayek, Ian Glass, James T. Bennett, Ghayda Mirzaa, Paul Kruszka, Britt Johnson, Kirsty McWalter, Deborah Copenheaver, Bethany Friedman, Michael Bamshad, Katrina M. Dipple, Tara L. Wenger   +22 more
wiley   +1 more source