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Genes, Volume 14, Issue 2

February 2023 - 296 articles

Cover Story: RYR1-related myopathy (RYR1-RM) is now known to manifest itself in vastly heterogeneous forms, whose clinical interpretation is, therefore, highly challenging. We set out to develop a novel unsupervised cluster analysis method in a large patient population. The objective was to analyze the main RYR1-related characteristics to identify distinctive features of RYR1-RM and, thus, offer more precise genotype–phenotype correlations in a group of potentially life-threatening disorders. We studied 600 patients presenting with a suspicion of inherited myopathy, who were investigated using next-generation sequencing. In addressing the need for more specific genotype–phenotype correlations, we found clustering to overcome the limits of the “single-dimension” paradigm traditionally used to describe genotype–phenotype relationships. View this paper
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Articles (296)

  • Article
  • Open Access
9 Citations
3,066 Views
16 Pages

Understanding Drug Resistance of Wild-Type and L38HL Insertion Mutant of HIV-1 C Protease to Saquinavir

  • Sankaran Venkatachalam,
  • Nisha Murlidharan,
  • Sowmya R. Krishnan,
  • C. Ramakrishnan,
  • Mpho Setshedi,
  • Ramesh Pandian,
  • Debmalya Barh,
  • Sandeep Tiwari,
  • Vasco Azevedo and
  • Yasien Sayed
  • + 1 author

20 February 2023

Acquired immunodeficiency syndrome (AIDS) is one of the most challenging infectious diseases to treat on a global scale. Understanding the mechanisms underlying the development of drug resistance is necessary for novel therapeutics. HIV subtype C is...

  • Article
  • Open Access
1 Citations
2,328 Views
11 Pages

Genetic Lesions in Russian CLL Patients with the Most Common Stereotyped Antigen Receptors

  • Bella V. Biderman,
  • Ekaterina B. Likold,
  • Nataliya A. Severina,
  • Tatiana N. Obukhova and
  • Andrey B. Sudarikov

20 February 2023

Chronic lymphocytic leukemia (CLL) is one of the most common B-cell malignancies in Western countries. IGHV mutational status is the most important prognostic factor for this disease. CLL is characterized by an extreme narrowing of the IGHV genes rep...

  • Article
  • Open Access
1 Citations
2,831 Views
11 Pages

Characterization of phi112, a Molecular Marker Tightly Linked to the o2 Gene of Maize, and Its Utilization in Multiplex PCR for Differentiating Normal Maize from QPM

  • Alla Singh,
  • Chikkappa Karjagi,
  • Sehgeet Kaur,
  • Gagan Jeet,
  • Deepak Bhamare,
  • Sonu Gupta,
  • Sunil Kumar,
  • Abhijit Das,
  • Mamta Gupta and
  • D. P. Chaudhary
  • + 5 authors

20 February 2023

Quality Protein Maize (QPM) contains higher amounts of essential amino acids lysine and tryptophan. The QPM phenotype is based on regulating zein protein synthesis by opaque2 transcription factor. Many gene modifiers act to optimize the amino acid co...

  • Article
  • Open Access
5 Citations
2,754 Views
19 Pages

Genomic Insights of Alnus-Infective Frankia Strains Reveal Unique Genetic Features and New Evidence on Their Host-Restricted Lifestyle

  • Sandra Kim Tiam,
  • Hasna Boubakri,
  • Lorine Bethencourt,
  • Danis Abrouk,
  • Pascale Fournier and
  • Aude Herrera-Belaroussi

20 February 2023

The present study aimed to use comparative genomics to explore the relationships between Frankia and actinorhizal plants using a data set made of 33 Frankia genomes. The determinants of host specificity were first explored for “Alnus-infective...

  • Article
  • Open Access
13 Citations
2,975 Views
12 Pages

miR-33a Inhibits the Differentiation of Bovine Preadipocytes through the IRS2–Akt Pathway

  • Wenzhen Zhang,
  • Sayed Haidar Abbas Raza,
  • Bingzhi Li,
  • Bing Sun,
  • Sihu Wang,
  • Sameer D. Pant,
  • Nouf S. Al-Abbas,
  • Nehad A. Shaer and
  • Linsen Zan

20 February 2023

Several microRNAs (miRNAs) are known to participate in adipogenesis. However, their role in this process, especially in the differentiation of bovine preadipocytes, remains to be elucidated. This study was intended to clarify the effect of microRNA-3...

  • Article
  • Open Access
6 Citations
3,226 Views
16 Pages

Root Metabolism and Effects of Root Exudates on the Growth of Ralstonia solanacearum and Fusarium moniliforme Were Significantly Different between the Two Genotypes of Peanuts

  • Zhong Li,
  • Wenfeng Guo,
  • Changming Mo,
  • Ronghua Tang,
  • Liangqiong He,
  • Lin Du,
  • Ming Li,
  • Haining Wu,
  • Xiumei Tang and
  • Zhipeng Huang
  • + 1 author

20 February 2023

Wild peanut species Arachis correntina (A. correntina) had a higher continuous cropping tolerance than peanut cultivars, closely correlating with the regulatory effects of its root exudates on soil microorganisms. To reveal the resistance mechan...

  • Review
  • Open Access
8 Citations
3,628 Views
15 Pages

19 February 2023

Recently, several studies have highlighted a skewed prevalence of infectious diseases within the African continent. Furthermore, a growing number of studies have demonstrated unique genetic variants found within the African genome are one of the cont...

  • Article
  • Open Access
8 Citations
3,931 Views
12 Pages

The Circulating Level of Klotho Is Not Dependent upon Physical Fitness and Age-Associated Methylation Increases at the Promoter Region of the Klotho Gene

  • Dora Aczel,
  • Ferenc Torma,
  • Matyas Jokai,
  • Kristen McGreevy,
  • Anita Boros,
  • Yasuhiro Seki,
  • Istvan Boldogh,
  • Steve Horvath and
  • Zsolt Radak

19 February 2023

(1) Background: Higher levels of physical fitness are believed to increase the physiological quality of life and impact the aging process with a wide range of adaptive mechanisms, including the regulation of the expression of the age-associated kloth...

  • Article
  • Open Access
10 Citations
3,153 Views
16 Pages

19 February 2023

As a valuable Chinese traditional medicinal species, Chaenomeles speciosa (Sweet) Nakai (C. speciosa) is a natural resource with significant economic and ornamental value. However, its genetic information is not well understood. In this study, the co...

  • Article
  • Open Access
4 Citations
2,748 Views
11 Pages

Influence of the Osteogenomic Profile in Response to Alendronate Therapy in Postmenopausal Women with Osteoporosis: A Retrospective Cohort Study

  • Alejandra Villagómez Vega,
  • Jorge Iván Gámez Nava,
  • Francisco Ruiz González,
  • Misael Pérez Romero,
  • Walter Ángel Trujillo Rangel and
  • Ismael Nuño Arana

19 February 2023

Background: Postmenopausal osteoporosis is a multifactorial disease. Genetic factors play an essential role in contributing to bone mineral density (BMD) variability, which ranges from 60 to 85%. Alendronate is used as the first line of pharmacologic...

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Genes - ISSN 2073-4425