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3241
Characterization of the Plastid Genome of the Vulnerable Endemic <i>Indosasa lipoensis</i> and Phylogenetic Analysis
Published 2023-02-01“…The plastomes were highly conservative, compared to other bamboo species, and exhibited similar patterns of codon usage, number of repeat sequences, and expansion and contraction of the IR boundary. …”
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3242
A homozygous EVC mutation in a prenatal fetus with Ellis–van Creveld syndrome
Published 2023-08-01“….‐164_174del, which ultimately leads to a 337 bp deletion at the 3′ end of exon 1 and loss of the start codon. Conclusion This is the first reported case of EvC syndrome based on a splicing variant and detailed delineation of the aberrant splicing effect in the fetus. …”
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3243
Chromophobe Renal Cell Carcinoma with Sarcomatoid Differentiation
Published 2023-07-01Get full text
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3244
Duchenne muscular dystrophy caused by a deletion (c.5021del) in exon 35 of the DMD gene: A case report and review of the literature
Published 2024-04-01“…A deletion (c.5021del) in exon 35 of the dystrophin gene was identified, which was predicted to generate a frameshift mutation and create an early termination codon (p.Leu1674CysfsTer47). It has a pathogenic effect against dystrophin in the muscle cell membrane of the patient. …”
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3245
Upregulation of the PatAB Transporter Confers Fluoroquinolone Resistance to Streptococcus pseudopneumoniae
Published 2017-10-01“…Complete genome sequencing indicated that the sequence located between the promoter of the patAB operon and the initiation codon of patA, which putatively forms an RNA stem-loop structure, may be responsible for the efflux phenotype. …”
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3246
Amh Polymorphisms and their association with traits indicative of sexual precocity in nelore heifers
Published 2019-06-01“…A total of three SNPs were identified in this study, all of them located in exon 5 (rs527023314, rs722016629, and rs134387246), the latter one positioned in the stop codon. All three SNPs identified in exon 5 characterized synonymous mutations. …”
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3247
Introgression of regulatory alleles and a missense coding mutation drive plumage pattern diversity in the rock pigeon
Published 2018-07-01“…In contrast, barless rock pigeons have an increased incidence of vision defects and, like human families with hereditary blindness, carry start-codon mutations in NDP. In summary, we find that both coding and regulatory variation in the same gene drives wing pattern diversity, and post-domestication introgression supplied potentially advantageous melanistic alleles to feral populations of this ubiquitous urban bird.…”
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3248
Structure Prediction of a Thermostable SR74 α-Amylase from <i>Geobacillus stearothermophilus</i> Expressed in CTG-Clade Yeast <i>Meyerozyma guilliermondii</i> Strain SO
Published 2020-09-01“…However, the CUG ambiguity present in the strain SO has possibly altered the amino acid residues in SR74 amylase wild type (WT) encoded by CUG the codon from the leucine to serine. From the multiple sequence alignment, six mutations were found in recombinant SR74 α-amylase (rc). …”
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3249
Multidisciplinary Challenges in Mastocytosis and How to Address with Personalized Medicine Approaches
Published 2019-06-01“…In >80% of patients with systemic mastocytosis (SM), a somatic point mutation in <i>KIT</i> at codon 816 is found. Whereas patients with indolent forms of the disease have a normal or near-normal life expectancy, patients with advanced mast cell neoplasms, including aggressive SM and mast cell leukemia, have a poor prognosis with short survival times. …”
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3250
Toward reconstructing the evolution of advanced moths and butterflies (Lepidoptera: Ditrysia): an initial molecular study
Published 2009-12-01“…</p> <p>Separate analyses of mostly synonymous versus non-synonymous character sets revealed notable differences (though not strong conflict), including a marked influence of compositional heterogeneity on apparent signal in the third codon position (nt3). As available model partitioning methods cannot correct for this variation, we assessed overall phylogeny resolution through separate examination of trees from each character set. …”
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3251
Assembly and comparative analysis of the complete mitochondrial genome of Ilex metabaptista (Aquifoliaceae), a Chinese endemic species with a narrow distribution
Published 2023-08-01“…Repeat sequence analysis and prediction of RNA editing sites revealed a total of 286 dispersed repeats, 140 simple repeats, 18 tandem repeats, and 543 RNA editing sites. Analysis of codon usage showed that codons ending in A/T were preferred. …”
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3252
AAV-Mediated Targeting of the Activin A-ACVR1<sup>R206H</sup> Signaling in Fibrodysplasia Ossificans Progressiva
Published 2023-09-01“…AAV gene therapy carrying the combination of codon-optimized human ACVR1 (ACVR1<sup>opt</sup>) and artificial miRNAs targeting Activin A and its receptor ACVR1<sup>R206H</sup> ablated the aberrant activation of BMP-Smad1/5 signaling and the osteogenic differentiation of <i>Acvr1<sup>R206H/+</sup></i> skeletal progenitors. …”
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3253
TrichoGate: An Improved Vector System for a Large Scale of Functional Analysis of Trichoderma Genes
Published 2019-12-01“…Here, we present the creation of diverse vectors containing (i) promoter-specific vectors for Trichoderma, (ii) gene deletions (using hygromycin phosphotransferase as selection marker), (iii) protein localization (mCherry and eGFP, which were codon-optimized for Trichoderma), (iv) gene complementation (neomycin phosphotransferase) and (v) overexpression of encoding gene proteins fused to fluorescent markers, by using the Golden Gate cloning technology. …”
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3254
Comparative Mitogenomics of True Frogs (Ranidae, Anura), and Its Implications for the Phylogeny and Evolutionary History of <i>Rana</i>
Published 2022-05-01“…In this study, we sequenced and annotated the complete mitochondrial genome of <i>R. longicrus</i> and <i>R. zhenhaiensis</i>, containing 22 tRNAs, 13 protein-coding genes, two ribosomal RNAs, and a non-coding region, with 17,502 bp and 18,006 bp in length, respectively. In 13 protein codon genes, the COI was the most conserved, and ATP8 had a fast rate of evolution. …”
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3255
A novel nonsense variant in NSD1 gene in a female child with Sotos syndrome: A case report and literature review
Published 2023-12-01“…Early appearance of the termination codon leads to protein truncation. Haploinsufficiency of the NSD1 gene causes the overgrowth disorders.…”
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3256
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3257
Implications of Programmed Death Ligand-1 Positivity in Non-Clear Cell Renal Cell Carcinoma
Published 2018-10-01Get full text
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3258
Distinct Morphological and Behavioural Alterations in ENU-Induced Heterozygous <i>Trpc7<sup>K810Stop</sup></i> Mutant Mice
Published 2021-10-01“…The causative mutation was detected in the gene <i>Trpc7</i> which leads to the production of a truncated protein due to the novel stop codon at amino acid position 810 thereby affecting the highly conserved cytoplasmic C terminus of the protein. …”
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3259
Complete mitochondrial genome sequences for Crown-of-thorns starfish <it>Acanthaster planci </it>and <it>Acanthaster brevispinus</it>
Published 2006-01-01“…</p> <p>Conclusion</p> <p>The gene arrangement, base composition, codon usage and tRNA structure of <it>A. planci </it>are similar to those of <it>A. brevispinus</it>. …”
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3260
Oligo-dT anchored cDNA-SRAP and cDNA-SCoT aided identification of transcripts differentially expressed during the early stages of recovery of resurrection plant Haberlea rhodopensi...
Published 2023-12-01“…In this study we performed a differential screening using a new approach, based on oligo-dT anchored cDNA-SRAP (copy DNA sequence-related amplified polymorphism) and a modified oligo-dT anchored cDNA-SCoT (copy DNA start codon targeted) assays to provide new information on genes involved in the tolerance to low temperature stress and the recovery of H. rhodopensis. …”
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