Results 281 to 290 of about 645,043 (338)

EFTUD2 Regulates Cortical Morphogenesis via Modulation of Caspase‐3 and Aifm1 Splicing Pathways

Advanced Science, EarlyView.
EFTUD2, a spliceosomal GTPase linked to MFDM, regulates cortical development through apoptotic control. Conditional Eftud2 knockout in murine neural stem cells induces microcephaly and cortical disorganization, while pathogenic variants drive neuronal loss.
Liping Chen, Ying Li, Yan Yu, Mingze Cai, Hao Li, Minghe Huang, Guochao Yang, Jiageng Guo, Huailin Wang, Zhihong Song, Wei Shen, Huihui Jiang, Haitao Wu   +12 more
wiley   +1 more source

Gene Editing for Duchenne Muscular Dystrophy: From Experimental Models to Emerging Therapies. [PDF]

Degener Neurol Neuromuscul Dis
Haque US, Yokota T.
europepmc   +1 more source

Impact of Virus‐Mediated Modifications in Bacterial Communities on the Accumulation of Soil Organic Carbon

Advanced Science, EarlyView.
This study illustrates the impact of viruses on carbon cycling in soils with different availabilities of carbon. In conditions of low carbon availability, viruses adopt a lysogenic lifestyle, integrate into the host genomes and facilitate the degradation of carbon.
Mingfeng Liu, Guixiang Zhou, Congzhi Zhang, Lin Chen, Donghao Ma, Lijun Zhang, Chunhua Jia, Ling Ma, Jiabao Zhang   +8 more
wiley   +1 more source

Complete omission of exon 21 from Slc12a2 transcripts in mice results in hearing loss. [PDF]

Sci Rep
Mutai H, Kuroda Y, Noji S, Ichikawa S, Matsuo K, Tanaka S, Kataoka N, Fujioka M, Matsunaga T.   +8 more
europepmc   +1 more source

m6A Modulates RAN Translation From CAG Repeat Expansion RNA

Aggregate, EarlyView.
We described a novel role of N6‐methyladenosine in promoting non‐canonical repeat‐associated non‐AUG translation from CAG repeat expansion RNA. ABSTRACT Nucleotide repeat expansions contribute to the development of a number of neurodegenerative diseases.
Yuxiang Sun, Zhouxian Li, Hui Dai, Yinsheng Wang   +3 more
wiley   +1 more source

Identification of an elusive <i>SERPING1</i> deletion in a family with hereditary angioedema type I utilizing soft clipping. [PDF]

Front Allergy
Wetherby K, Chiao J, Faulkner E, Guo Y, Hou S, Yu JJ, Chen J, Wan L, Henry Li H.   +8 more
europepmc   +1 more source

Phylogenetic relationships and the identification of allopolyploidy in circumpolar Silene sect. Physolychnis

American Journal of Botany, EarlyView.
Abstract Premise Species complexes are groups of closely related species with ambiguous delimitation, often composed of recently diverged lineages. Polyploidization and uniparental reproduction (i.e., selfing and apomixis) can play important roles in the origin of species complexes. These complexes pose challenges for species‐based scientific questions,
Anne‐Sophie Quatela, Patrik Cangren, Paola de Lima Ferreira, Yannick Woudstra, Andreas Zsoldos‐Skahjem, Christine D. Bacon, Hugo J. de Boer, Bengt Oxelman   +7 more
wiley   +1 more source

Advancing Epidermal Growth Factor Receptor (EGFR) Exon 20 Insertion-Mutated Non-small Cell Lung Cancer (NSCLC) Management Through Molecular Diagnostics and Targeted Therapies. [PDF]

Cureus
Giridharan S, Ansari J, Hussain I.
europepmc   +1 more source

Negative regulatory elements upstream of a novel exon of the neuronal nicotinic acetylcholine receptor α2 subunit gene

, 1993
Alain Bessis, Nathalie Savatier, Anne Devillers‐Thiéry, Stéphane Bejanin, Jean‐Pierre Changeux   +4 more
openalex   +2 more sources

Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev, Paula Fernandez Alvarez, Marika Frank, Lucy Hanington, Trevor L. Hoffman, Mira B. Irons, Jenny Kim, Akash Kumar, Amaia Lasa‐Aranzasti, Diana Le Duc, Helen Livesey, Oliver Murch, Deborah Shears, Brandon K. Walther, Tamar Harel   +14 more
wiley   +1 more source