Results 81 to 90 of about 144,700 (293)

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source

Recent mobility of plastid encoded group II introns and twintrons in five strains of the unicellular red alga Porphyridium [PDF]

PeerJ, 2015
Group II introns are closely linked to eukaryote evolution because nuclear spliceosomal introns and the small RNAs associated with the spliceosome are thought to trace their ancient origins to these mobile elements.
Marie-Mathilde Perrineau, Dana C. Price, Georg Mohr, Debashish Bhattacharya   +3 more
doaj   +2 more sources

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Phase distribution of spliceosomal introns: implications for intron origin

BMC Evolutionary Biology, 2006
Background The origin of spliceosomal introns is the central subject of the introns-early versus introns-late debate. The distribution of intron phases is non-uniform, with an excess of phase-0 introns.
Yoshihama Maki, Nguyen Hung D, Kenmochi Naoya   +2 more
doaj   +1 more source

The peculiarities of large intron splicing in animals. [PDF]

PLoS ONE, 2009
In mammals a considerable 92% of genes contain introns, with hundreds and hundreds of these introns reaching the incredible size of over 50,000 nucleotides.
Samuel Shepard, Mark McCreary, Alexei Fedorov   +2 more
doaj   +1 more source

Infusible Extracellular Matrix Biomaterial Enhances Cell‐Specific Pro‐Repair Responses Following Acute Myocardial Infarction

Advanced Healthcare Materials, EarlyView.
We measure the cell‐specific responses of administering infusible ECM (iECM) in acute myocardial infarction (MI) across multiple timepoints. Using single‐nucleus RNA sequencing and spatial transcriptomics, we measure macrophage activation, fibroblast remodeling, increased vascular development, lymphangiogenesis, cardioprotection, and neurogenesis ...
Joshua M. Mesfin, Alexander Chen, Quincy P. Lyons, Michael B. Nguyen, Maria L. Karkanitsa, Justin Yu, Van K. Ninh, Emily Gardner, Elyse G. Wong, Sriya N. Paleti, Julian Cheng, Benjamin D. Bridgelal, Kate E. Reimold, Selena Cao, Connor Uhre, Colin G. Luo, Zhenxing Fu, Kevin R. King, Karen L. Christman   +18 more
wiley   +1 more source

Both size and GC-content of minimal introns are selected in human populations. [PDF]

PLoS ONE, 2011
BACKGROUND: We previously have studied the insertion and deletion polymorphism by sequencing no more than one hundred introns in a mixed human population and found that the minimal introns tended to maintain length at an optimal size. Here we analyzed re-
Dapeng Wang, Jun Yu
doaj   +1 more source

Temporal and Cell‐Specific Regulation of Synaptic Homeostasis by the Chromatin Remodeler Chd1

Advanced Science, EarlyView.
Chd1, the Drosophila homologue of mammalian CHD2 ‐ a gene linked to autism, epilepsy, and intellectual disability, is required for synaptic homeostatic plasticity. Chd1 in glia is necessary for the rapid induction of synaptic homeostasis, whereas Chd1 in motoneurons, muscle, and glia is critical for long‐term maintenance.
Danielle T. Morency, Tao Cui, Yimei Cai, Chloe Lok, Rachel E. Nokku, Ruoxian Huang, Grace L. Chu, Yumeng Xie, Saleem W. Abu‐Tayeh, Kaikai He, Chengjie Qiu, Junyi Wang, Paxton M. Paganelli, Ting Wang, Gabrielle Williams, Sreejith Nair, Huadong Pei, Dion K. Dickman, Stefano Vicini, Tingting Wang   +19 more
wiley   +1 more source

Intron‐dependent evolution: Preferred types of exons and introns [PDF]

FEBS Letters, 1987
Exon insertions and exon duplications, two major mechanisms of exon shuffling, are shown to involve modules that have introns of the same phase class at both their 5′‐ and 3′‐ends. At the sites of intronic recombinations exon insertions and duplications create new introns which belong to the same phase class as the recipient introns.
openaire   +2 more sources

TRMT6‐Mediated m1A Modification of CDK9 mRNA Is a Dual‐Pronged Pathogenic Driver for HBV‐Related Hepatocellular Carcinoma

Advanced Science, EarlyView.
TRMT6‐mediated m1A modification in CDK9 mRNA enhances its mRNA stability and translation efficiency, thereby increasing the protein levels of CDK9. Upregulated CDK9 promotes the progression of HCC by elevating the levels of oncogenic factors including p‐STAT3, MCL1, and BCL‐2. On the other hand, CDK9 phosphorylates TARDBP at Ser254 to activate HBV core
Rui Zhang, Dandan Zong, Rui Liu, Yubo Wang, Qingqing Gu, Yao Yao, Wenfang Zheng, Mengmeng Yuan, Simeng Wang, Rongrong Cui, Daxu Li, Siwen Dang, Peng Hou   +12 more
wiley   +1 more source