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Genes, Volume 15, Issue 3

March 2024 - 131 articles

Cover Story: Infantile epileptic spasms syndrome (IESS) is a devastating developmental epileptic encephalopathy (DEE) consisting of epileptic spasms, developmental regression/stagnation, and hypsarrhythmia on EEG. A myriad of aetiologies are associated with IESS; approximately 40% of cases are genetic. Over 28 copy number variants and 70 single-gene pathogenic variants related to IESS have been discovered. Understanding the genetic mechanisms of IESS may provide the opportunity to discern IESS pathophysiology better and improve treatments. This review presents an overview of our current understanding of IESS genetics, emphasizing animal models of IESS pathogenesis, the spectrum of genetic aetiologies of IESS, and available genetic testing methods and their diagnostic yields. Future opportunities for precision medicine and epilepsy genetics in IESS treatment are explored. View this paper
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Articles (131)

  • Article
  • Open Access
4 Citations
2,080 Views
10 Pages

Fitting of Growth Curves and Estimation of Genetic Relationship between Growth Parameters of Qianhua Mutton Merino

  • Jiarong Li,
  • Xuesong Shan,
  • Yang Chen,
  • Chongshun Xu,
  • Lin Tang and
  • Huaizhi Jiang

21 March 2024

Qianhua Mutton Merino is a dual-purpose (meat and wool) breed of sheep that has been newly developed in China. In this study, we assessed the growth and development of the Qianhua Mutton Merino sheep breed under house feeding conditions by measuring...

  • Article
  • Open Access
5 Citations
2,481 Views
17 Pages

Cyto-Histological Profile of MicroRNAs as Diagnostic Biomarkers in Differentiated Thyroid Carcinomas

  • Maria de Lurdes Matos,
  • Mafalda Pinto,
  • Marta Alves,
  • Sule Canberk,
  • Ana Gonçalves,
  • Maria João Bugalho,
  • Ana Luísa Papoila and
  • Paula Soares

21 March 2024

Introduction: The repertoire of microRNAs (miRNAs) in thyroid carcinomas starts to be elucidated. Among differentiated thyroid carcinomas (DTCs), papillary thyroid carcinoma (PTC) is the most frequent. The assessment of miRNAs expression may contribu...

  • Article
  • Open Access
1 Citations
2,086 Views
13 Pages

Wounding-Related Signaling Is Integrated within the Auxin-Response Framework to Induce Adventitious Rooting in Chestnut

  • Ricardo Castro-Camba,
  • Jesús Mª Vielba,
  • Saleta Rico,
  • Purificación Covelo,
  • Mª José Cernadas,
  • Nieves Vidal and
  • Conchi Sánchez

21 March 2024

Wounding and exogenous auxin are needed to induce adventitious roots in chestnut microshoots. However, the specific inductive role of wounding has not been characterized in this species. In the present work, two main goals were established: First, we...

  • Article
  • Open Access
2 Citations
2,122 Views
16 Pages

In Vitro Low-Bortezomib Doses Induce Apoptosis and Independently Decrease the Activities of Glutathione S-Transferase and Glutathione Peroxidase in Multiple Myeloma, Taking into Account the GSTT1 and GSTM1 Gene Variants

  • Szymon Zmorzynski,
  • Sylwia Popek-Marciniec,
  • Beata Biernacka,
  • Aneta Szudy-Szczyrek,
  • Sylwia Chocholska,
  • Wojciech Styk,
  • Joanna Czerwik-Marcinkowska and
  • Grazyna Swiderska-Kolacz

21 March 2024

Background: Multiple myeloma (MM) is a malignancy derived from plasma cells. Bortezomib affects the concentration of reduced glutathione (GSH) and the activity of glutathione enzymes. The aim of our study was to analyze deletion (null/present) varian...

  • Article
  • Open Access
7 Citations
7,742 Views
14 Pages

ACTN3 XX Genotype Negatively Affects Running Performance and Increases Muscle Injury Incidence in LaLiga Football Players

  • Juan Del Coso,
  • Gil Rodas,
  • Aitor Soler-Aguinaga,
  • Roberto López-Del Campo,
  • Ricardo Resta,
  • Joaquín González-Rodenas,
  • Jordi Ferrandis and
  • Víctor Moreno-Pérez

21 March 2024

The aim of this study was to investigate the association of the ACTN3 rs1815739 polymorphism with match running performance and injury incidence in top-level professional football players. A total of 315 top-level professional football players from t...

  • Brief Report
  • Open Access
2 Citations
3,160 Views
11 Pages

Olfactory Receptor OR2K2 Expression in Human Choroid Plexus as a Potential Marker in Early Sporadic Alzheimer’s Disease

  • Victoria Cunha Alves,
  • Joana Figueiro-Silva,
  • Ramon Trullas,
  • Isidre Ferrer and
  • Eva Carro

21 March 2024

Epithelial cells comprising the choroid plexus (CP) form a crucial barrier between the blood and the cerebrospinal fluid, thereby assuming a central position in brain homeostasis and signaling. Mounting evidence suggests that the impairment of CP fun...

  • Article
  • Open Access
2 Citations
2,814 Views
10 Pages

The Health History of First-Degree Relatives’ Dyslipidemia Can Affect Preferences and Intentions following the Return of Genomic Results for Monogenic Familial Hypercholesterolemia

  • Tomoharu Tokutomi,
  • Akiko Yoshida,
  • Akimune Fukushima,
  • Kayono Yamamoto,
  • Yasushi Ishigaki,
  • Hiroshi Kawame,
  • Nobuo Fuse,
  • Fuji Nagami,
  • Yoichi Suzuki and
  • Mika Sakurai-Yageta
  • + 7 authors

21 March 2024

Genetic testing is key in modern healthcare, particularly for monogenic disorders such as familial hypercholesterolemia. This Tohoku Medical Megabank Project study explored the impact of first-degree relatives’ dyslipidemia history on individua...

  • Article
  • Open Access
6 Citations
2,360 Views
17 Pages

Mining Heat-Resistant Key Genes of Peony Based on Weighted Gene Co-Expression Network Analysis

  • Xingyu Yang,
  • Yu Huang,
  • Yiping Yao,
  • Wenxuan Bu,
  • Minhuan Zhang,
  • Tangchun Zheng,
  • Xiaoning Luo,
  • Zheng Wang,
  • Weiqun Lei and
  • Jianing Tian
  • + 2 authors

21 March 2024

The RNA-Seq and gene expression data of mature leaves under high temperature stress of Paeonia suffruticosa ‘Hu Hong’ were used to explore the key genes of heat tolerance of peony. The weighted gene co-expression network analysis (WGCNA)...

  • Article
  • Open Access
8 Citations
3,532 Views
12 Pages

Genome-Wide Association Analysis of Semen Characteristics in Piétrain Boars

  • Henry Reyer,
  • Ibrahim Abou-Soliman,
  • Martin Schulze,
  • Hubert Henne,
  • Norbert Reinsch,
  • Jennifer Schoen and
  • Klaus Wimmers

20 March 2024

Since artificial insemination is common practice in pig breeding, the quality and persistence of the semen are decisive for the usability of individual boars. In the current study, genome-wide association analyses were performed to investigate the ge...

  • Case Report
  • Open Access
1 Citations
2,354 Views
9 Pages

Novel MYH7 Variant in the Neonate of a Mother with Gestational Diabetes Mellitus Showing Left Ventricular Hypertrophy and Noncompaction

  • Sayaka W Ozawa,
  • Satomi Inomata,
  • Yukiko Hata,
  • Shinya Takarada,
  • Mako Okabe,
  • Hideyuki Nakaoka,
  • Keijiro Ibuki,
  • Naoki Nishida,
  • Fukiko Ichida and
  • Keiichi Hirono

20 March 2024

Background: Left ventricular hypertrophy (LVH) is a well-recognized cardiac dysfunction in infants of mothers with gestational diabetes mellitus (GDM). Left ventricular noncompaction (LVNC) is a cardiomyopathy that is morphologically characterized by...

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Genes - ISSN 2073-4425