Results 281 to 290 of about 325,490 (342)

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses, Morgan Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon‐Lipkin, Maria T. Acosta, Deena Zeltser, Nadjalisse Reynolds‐Lallement, Latha Soorya, Mustafa Sahin, Tess Levy, Alexander Kolevzon, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Craig M. Powell, Jonathan A. Bernstein, Mari Tokita, Bryce A. Seifert, Rajarshi Ghosh, Magdalena A. Walkiewicz, Audrey Thurm   +21 more
wiley   +1 more source

The Central Role of Ribosomal Proteins in p53 Regulation. [PDF]

Cancers (Basel)
Lindström MS.
europepmc   +1 more source

Comprehensive mapping of Arabidopsis alternative splicing landscape reveals key insights into plant development and immunity. [PDF]

Plant Genome
Barff T, Sanchez Carrillo IB, Parra Gutiérrez VP, B Plourde M, Joly DL, Germain H.   +5 more
europepmc   +1 more source

Alterations in gut microbiota and metabolites contribute to postoperative sleep disturbances

Animal Models and Experimental Medicine, EarlyView.
In this study, we classified postoperative patients into poor sleepers (PS) and good sleepers (GS) based on the bispectral index (BIS), and transplanted their fecal microbiota to pseudo‐germ‐free rats to analyze the sleep changes in rats and the potential mechanism.
Hui Zhong, Meiru Jiang, Kun Yuan, Fang Sheng, Xiuyun Xu, Yong Cui, Xijia Sun, Wenfei Tan   +7 more
wiley   +1 more source

<i>In situ</i> intein-mediated multiprotein assembly via engineered cross-species consortia. [PDF]

Front Bioeng Biotechnol
Wang H, Kang J, Gao H.
europepmc   +1 more source

circNR3C2 promotes chondrogenic differentiation and cartilage repair of human adipose‐derived stem cells via the hsa‐miR‐647/SOX9 pathway

Animal Models and Experimental Medicine, EarlyView.
The hypothesis diagram illustrates the function and mechanism of circNR3C2: circNR3C2 overexpression can up‐regulate COL2, Aggrecan and SOX9 expression, and regulate chondrogenic differentiation of hADSCs by targeting hsa‐miR‐647. Abstract Background Human adipose‐derived stem cells (hADSCs) are seed cells with application prospects in cartilage repair.
Dabiao Hou, Huajun Wang, Hao Guo, Dongbin Luo, Xiaofei Zheng, Simin Luo   +5 more
wiley   +1 more source

Epigenetic Modifications in Alternative Splicing of LDLR pre-mRNA on Hypercholesterolemia Following Aerobic Exercise Training. [PDF]

Int J Mol Sci
Zhao J, Yan P, Pang Y, Dong Y, Shi X.
europepmc   +1 more source

Research advancements and evaluation of multifactor‐induced murine models for gastric cancer

Animal Models and Experimental Medicine, EarlyView.
Murine models for gastric cancer. Abstract As one of the most prevalent gastrointestinal malignancies in humans, gastric cancer (GC) is often detected at an advanced stage, resulting in a poor prognosis and ranking it the fifth leading cause of cancer‐related deaths.
Yiqing Wang, Liang Zhang, Weixu Feng, Wanfeng Liu, Xiangyang Xue, Shiyu Feng   +5 more
wiley   +1 more source

P-Type Pentatricopeptide Repeat Proteins YS1 and YS2 Function in Splicing of <i>petB</i> Intron to Maintain Chloroplast Homeostasis During Rice Seedling Development. [PDF]

Int J Mol Sci
Sun H, Nie Y, Yu L, Yue X, Hou X, Zhao J.   +5 more
europepmc   +1 more source

Mapping Molecular Pathways of Multiple Sclerosis: A Gene Prioritization and Network Analysis of White Matter Pathology Transcriptomics

Annals of Neurology, Volume 98, Issue 1, Page 67-79, July 2025.
Objectives Rapid advances in transcriptomics have driven efforts to identify deregulated pathways in multiple sclerosis (MS) tissues, though many detected differentially expressed genes are likely false positives, with only a small fraction reflecting actual pathological events. Robust, integrative methods are essential for accurately understanding the
Gianmarco Abbadessa, Ai Nagano, Simon Hametner, Owain Howell, David Owen, Artemis Papadaki, Prashant Srivastava, Simona Bonavita, Roberta Magliozzi, Richard Reynolds, Mie Rizig, Richard Nicholas   +11 more
wiley   +1 more source