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Genes, Volume 13, Issue 11

November 2022 - 257 articles

Cover Story: The maturation of microRNAs begins by the “Microprocessor” complex, containing the Drosha endonuclease and its partner protein, DGCR8. To investigate the roles of DGCR8 in this and other cellular pathways, we established a human embryonic stem-cell line carrying a monoallelic DGCR8 mutation by the CRISPR-Cas9 system. This mutation results in only a modest effect on the DGCR8 mRNA level but a significant decrease at the protein level. The self-renewal and trilineage differentiation capacity of stem cells are not affected but partial disturbance of the Microprocessor function could be revealed in pri-miRNA processing along the chromosome 19 miRNA cluster. The study demonstrates that such a mutant stem-cell line is a good model to investigate not only miRNA-related but also other “noncanonical” functions of the DGCR8 protein. View this paper
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Articles (257)

  • Case Report
  • Open Access
8 Citations
3,305 Views
8 Pages

AKAP9-Related Channelopathy: Novel Pathogenic Variant and Review of the Literature

  • Minh-Tuan Huynh,
  • Alexis Proust,
  • Jérôme Bouligand and
  • Elena Popescu

20 November 2022

Disease-associated pathogenic variants in the A-Kinase Anchor Protein 9 (AKAP9) (MIM *604001) have been recently identified in patients with autosomal dominant long QT syndrome 11 (MIM #611820), lethal arrhythmia (ventricular fibrillation, polymorphi...

  • Review
  • Open Access
11 Citations
4,671 Views
20 Pages

Regulation of DNA Methylation by Cannabidiol and Its Implications for Psychiatry: New Insights from In Vivo and In Silico Models

  • Luana B. Domingos,
  • Nicole R. Silva,
  • Adriano J. M. Chaves Filho,
  • Amanda J. Sales,
  • Anna Starnawska and
  • Sâmia Joca

20 November 2022

Cannabidiol (CBD) is a non-psychotomimetic compound present in cannabis sativa. Many recent studies have indicated that CBD has a promising therapeutic profile for stress-related psychiatric disorders, such as anxiety, schizophrenia and depression. S...

  • Article
  • Open Access
3 Citations
3,837 Views
16 Pages

Microsatellite Characterization and Panel Selection for Brown Bear (Ursus arctos) Population Assessment

  • Vincenzo Buono,
  • Salvatore Burgio,
  • Nicole Macrì,
  • Giovanni Catania,
  • Heidi C. Hauffe,
  • Nadia Mucci and
  • Francesca Davoli

19 November 2022

An assessment of the genetic diversity and structure of a population is essential for designing recovery plans for threatened species. Italy hosts two brown bear populations, Ursus arctos marsicanus (Uam), endemic to the Apennines of central Italy, a...

  • Article
  • Open Access
11 Citations
3,471 Views
17 Pages

Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants

  • Marco Ferilli,
  • Andrea Ciolfi,
  • Lucia Pedace,
  • Marcello Niceta,
  • Francesca Clementina Radio,
  • Simone Pizzi,
  • Evelina Miele,
  • Camilla Cappelletti,
  • Cecilia Mancini and
  • Tiziana Galluccio
  • + 20 authors

19 November 2022

Background: Inactivating NSD1 mutations causing Sotos syndrome have been previously associated with a specific genome-wide DNA methylation (DNAm) pattern. Sotos syndrome is characterized by phenotypic overlap with other overgrowth syndromes, and a de...

  • Article
  • Open Access
7 Citations
2,968 Views
15 Pages

Variations in Growth and Photosynthetic Traits of Polyploid Poplar Hybrids and Clones in Northeast China

  • Luping Jiang,
  • Xiangzhu Xu,
  • Qun Cai,
  • Rui Han,
  • Mulualem Tigabu,
  • Tingbo Jiang and
  • Xiyang Zhao

19 November 2022

To evaluate differences among 19 different ploidy hybrid poplar clones grown in northeast China, 21 traits related to growth traits and photosynthetic characteristics were detected and analyzed. Abundant phenotypic variations exist among and within p...

  • Article
  • Open Access
14 Citations
2,455 Views
15 Pages

19 November 2022

Oil-tea camellia trees, the collective term for a class of economically valuable woody oil crops in China, have attracted extensive attention because of their rich nutritional and pharmaceutical value. This study aimed to analyze the genetic relation...

  • Article
  • Open Access
3 Citations
3,810 Views
17 Pages

Comparative Pan-Genomic Analysis Revealed an Improved Multi-Locus Sequence Typing Scheme for Staphylococcus aureus

  • Maira Jalil,
  • Fatima Quddos,
  • Farha Anwer,
  • Samavi Nasir,
  • Abdur Rahman,
  • Metab Alharbi,
  • Abdulrahman Alshammari,
  • Huda Kamel Alshammari and
  • Amjad Ali

19 November 2022

The growing prevalence of antibiotic-resistant Staphylococcus aureus strains mandates selective susceptibility testing and epidemiological investigations. It also draws attention to an efficient typing strategy. Whole genome sequencing helps in genet...

  • Article
  • Open Access
10 Citations
4,375 Views
19 Pages

Novel Homozygous ADAMTS2 Variants and Associated Disease Phenotypes in Dogs with Dermatosparactic Ehlers–Danlos Syndrome

  • Jared A. Jaffey,
  • Garrett Bullock,
  • Juyuan Guo,
  • Tendai Mhlanga-Mutangadura,
  • Dennis P. O’Brien,
  • Joan R. Coates,
  • Rochelle Morrissey,
  • Robert Hutchison,
  • Kevin S. Donnelly and
  • Leah A. Cohn
  • + 2 authors

19 November 2022

Tissue fragility, skin hyperextensibility and joint hypermobility are defining characteristics of Ehlers–Danlos syndrome (EDS). Human EDS is subclassified into fourteen types including dermatosparactic EDS, characterized by extreme skin fragili...

  • Communication
  • Open Access
12 Citations
3,413 Views
11 Pages

Extracellular Vesicle MicroRNA in Malignant Pleural Effusion

  • Samira Shojaee,
  • Giulia Romano,
  • Trinidad M. Sanchez,
  • Gulmira Yermakhanova,
  • Michela Saviana,
  • Patricia Le,
  • Giovanni Nigita,
  • Federica Calore,
  • Rachel Guthrie and
  • Kathryn Hess
  • + 6 authors

19 November 2022

Lung and breast cancer are the two most common causes of malignant pleural effusion (MPE). MPE diagnosis plays a crucial role in determining staging and therapeutic interventions in these cancers. However, our understanding of the pathogenesis and pr...

  • Article
  • Open Access
4 Citations
2,828 Views
19 Pages

Full Mitochondrial Genomes Reveal Species Differences between the Venerid Clams Ruditapes philippinarum and R. variegatus

  • Yumei Tang,
  • Zhongming Huo,
  • Yang Liu,
  • Yuhang Wang,
  • Luya Zuo,
  • Lei Fang,
  • Wen Zhao,
  • Yue Tan and
  • Xiwu Yan

19 November 2022

In natural sea areas along the coast of China, venerid clams Ruditapes philippinarum and R. variegatus exhibit similar adult shell forms and are especially difficult to distinguish as spat and juveniles. This study used comparative mitochondrial geno...

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Genes - ISSN 2073-4425