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Genes, Volume 16, Issue 2

February 2025 - 128 articles

Cover Story: The variants rs10517086 and rs1534422 are predictive of type 1 diabetes mellitus (T1DM) development and poor residual β cell function within the first year of diagnosis. However, the mechanism by which risk is conferred is unknown. Using CRISPR/Cas9, we show that both variants significantly reduce glucose-stimulated insulin secretion, increase the production of pro-inflammatory cytokines, and reduce the expression of several β cell markers and transcription factors. However, much of this appeared to be under the control of HNF1A. Analysis of human data revealed an association of rs10517086_A genotype with C-peptide in 153 individuals with T1DM, but not in 417 people with T2DM. Our data suggest that rs1534422 and rs10517086 exert multiple insults on the β cell through excessive upregulation of HNF1A and the induction of pro-inflammatory cytokines. View this paper
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Articles (128)

  • Review
  • Open Access
4 Citations
2,835 Views
19 Pages

Mosaicism in Short Tandem Repeat Disorders: A Clinical Perspective

  • Rose M. Doss,
  • Susana Lopez-Ignacio,
  • Anna Dischler,
  • Laurel Hiatt,
  • Harriet Dashnow,
  • Martin W. Breuss and
  • Caroline M. Dias

13 February 2025

Fragile X, Huntington disease, and myotonic dystrophy type 1 are prototypical examples of human disorders caused by short tandem repeat variation, repetitive nucleotide stretches that are highly mutable both in the germline and somatic tissue. As sho...

  • Article
  • Open Access
1,463 Views
14 Pages

Utilizing Target Sequences with Multiple Flanking Protospacer Adjacent Motif (PAM) Sites Reduces Off-Target Effects of the Cas9 Enzyme in Pineapple

  • Haiyan Shu,
  • Aiping Luan,
  • Hidayat Ullah,
  • Junhu He,
  • You Wang,
  • Chengjie Chen,
  • Qing Wei,
  • Rulin Zhan and
  • Shenghe Chang

13 February 2025

Background/Objectives: CRISPR-Cas9 (Clustered Regularly Interspaced Short Palindromic Repeats)-associated protein 9 is now widely used in agriculture and medicine. Off-target effects can lead to unexpected results that may be harmful, and these effec...

  • Review
  • Open Access
5,535 Views
31 Pages

Interspecies Blastocyst Complementation and the Genesis of Chimeric Solid Human Organs

  • Elena Bigliardi,
  • Anala V. Shetty,
  • Walter C. Low and
  • Clifford J. Steer

12 February 2025

Solid organ transplantation remains a life-saving treatment for patients worldwide. Unfortunately, the supply of donor organs cannot meet the current need, making the search for alternative sources even more essential. Xenotransplantation using sophi...

  • Article
  • Open Access
1,806 Views
16 Pages

Comprehensive Genomic Analysis of Meyerozyma guilliermondii CECT13190: An Outstanding Biocontrol Agent

  • Javier Vicente,
  • José María Alonso de Robador,
  • Beatriz Pintos and
  • Arancha Gomez-Garay

12 February 2025

Background/Objectives: Biocontrol agents (BCAs) are gaining attention as sustainable alternatives to chemical pesticides. Understanding their molecular mechanisms is crucial for improving plant protection. This study investigates the genomic features...

  • Article
  • Open Access
3 Citations
1,427 Views
11 Pages

11 February 2025

CYP2C9 metabolizes approximately 20% of clinically administered drugs. Several single-nucleotide polymorphisms (SNPs) of CYP2C9 (e.g., *2, *3, *8, and rs12777823) are used as biomarkers to predict CYP2C9 activity. However, a large proportion of varia...

  • Case Report
  • Open Access
1 Citations
2,251 Views
11 Pages

Clinical and Genetic Heterogeneity of HCM: The Possible Role of a Deletion Involving MYH6 and MYH7

  • Giancarlo Mancuso,
  • Marina Marsan,
  • Paola Neroni,
  • Consolata Soddu,
  • Francesco Lai,
  • Laura Serventi,
  • Milena Cau,
  • Alessandra Coiana,
  • Federica Incani and
  • Stefania Murru
  • + 1 author

10 February 2025

Background/Objectives: Pediatric hypertrophic cardiomyopathy (HCM) is the most common genetic myocardial disorder in children and a leading cause of sudden cardiac death (SCD) among the young. Its phenotypic variability, driven by incomplete penetran...

  • Article
  • Open Access
1 Citations
2,345 Views
21 Pages

9 February 2025

Background: The fimbria-fornix is a nerve fiber bundle that connects various structures of the limbic system in the brain and plays a key role in cognition. It has become a major target of deep brain stimulation (DBS) to treat memory impairment in bo...

  • Article
  • Open Access
2 Citations
2,096 Views
15 Pages

9 February 2025

Background/Objectives: Oral squamous cell carcinoma (OSCC) is the most common form of head and neck cancer and accounts for over 50,000 new cancer cases annually in the United States. The survival rates are markedly different for localized OSCC versu...

  • Review
  • Open Access
4 Citations
3,108 Views
22 Pages

8 February 2025

It is widely known that the dysregulation of non-coding RNAs (ncRNAs) and dysbiosis of the gut microbiome play significant roles in host development and the progression of various diseases. Emerging evidence has highlighted the bidirectional interpla...

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Genes - ISSN 2073-4425