Results 131 to 140 of about 55,944 (272)

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

”Sijoittajan päässä taistelevat ahneus ja pelko”: Diskurssianalyyttinen lähestymistapa tunnekielen merkitysten tulkintaan

VAKKI Publications
This study introduces a methodological approach for analysing emotion language, combining corpus-assisted discourse analysis, using semantic annotation, with qualitative analysis of discursive meanings.
Ella Lillqvist, Merja Porttikivi
doaj   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

Animal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu, Zhiyang Zeng, Xinyu Ming, Shuming Yin, Yuting Guan, Liangcai Gao, Dali Li   +6 more
wiley   +1 more source

Characterization of inflammatory pseudotumors in a large animal model of liver cancer

Animal Models and Experimental Medicine, EarlyView.
CT images in arterial and portal venous phases of liver lesions in Oncopig. Abstract Background The development of relevant and robust large animal models of hepatocellular carcinoma is needed to test new therapeutic strategies for this disease. Transgenic approaches hold promise in addressing this complex problem. One such model, the Oncopig, has been
Erik N. K. Cressman, Samantha Hicks, Natalie W. Fowlkes, Danielle L. Stolley, Maria Sophia Stenkamp   +4 more
wiley   +1 more source

Bioinformatics‐based discovery of the involvement of PSAT1 in mediating the anti‐lung adenocarcinoma activity of triptolide

Animal Models and Experimental Medicine, EarlyView.
Transcriptome sequencing was performed on tumor tissues from triptolide‐treated tumor‐bearing mice. The sequencing results were integrated with data from public databases for comprehensive analysis, and potential regulatory targets of triptolide were identified.
Zhiwen Cao, Lulu Zhang, Wenqiang Zhang, Rong Wan, Xiaogang Peng, Jinyan Xie, Ruru Bai, Jiejing Jin, Changqi Shi, Lan Yan, Xiangyu Guo, Yang Shen, Cheng Lu   +12 more
wiley   +1 more source

Corpus-Assisted Discourse Analysis of Russian University 3.0 Identity [PDF]

Vestnik Tomskogo gosudarstvennogo universiteta. Filologiya, 2019
openaire   +1 more source

A Corpus-Assisted Analysis of Silent Spring from the Discourse-Historical Perspective

International Journal of Linguistics, Literature and Translation
Silent Spring, an ecological work written by Rachel Carson, symbolizes the inception of the modern environmentalist movement since it reveals the astonishing and catastrophic consequences brought by the abuse of insecticides without beautification. The work struck the whole world and brought environmental protection to attention through its powerful ...
openaire   +1 more source

Persisting Transglutaminase 6 Antibodies in Neurological Gluten‐Related Disorders

Annals of Neurology, EarlyView.
Objective Gluten‐related autoimmunity can cause neurological disease, although the best way to diagnose and monitor such patients is unclear. Serological testing for antibodies against transglutaminase 6 (TG6) has been proposed; however, this is not widely available in clinical practice.
Iain D. Croall, Marios Hadjivassiliou, David S. Sanders, Kevin Teh, Alberto M. Biancardi, Nick Trott, Nigel Hoggard   +6 more
wiley   +1 more source

Critical Discourse Analysis of Media Discourse Related to the Impact of AI on Jobs: Corpus-Assisted

Studies in Media and Communication
This study employs Fairclough's three-dimensional model through corpus methods to analyze media discourse on the impact of AI on jobs, by uncovering themes and modality that affect the audience’s perception. A corpus of BBC YouTube channel interviews discussing AI and jobs was compiled, with a size of 16486 words.
Wajed Al Ahmad, Raeda Ammari, Murad Al Kayed, Juhaina Al- Issawi   +3 more
openaire   +1 more source