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Genes, Volume 15, Issue 1

January 2024 - 139 articles

Cover Story: In the relentless pursuit of unraveling the our genetic code, the fusion of machine learning and human genetic data is starting a new era in genetic association studies, promising unprecedented insights. As we acknowledge the multitude of genetic factors influencing human traits, machine learning steps in to unravel the complexities in polygenic architectures. This breakthrough not only enhances our comprehension of genetic landscapes but also promise more accurate diagnostics and targeted interventions, in personalized medicine. As we embark on this journey, ethical considerations, limitations and trustworthiness loom large. Balancing the transformative potential of machine learning with biases demands a meticulous approach. In the article that follow, we delve into the use of machine learning in a particular area of genetics, the genome-wide association studies. View this paper
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Articles (139)

  • Article
  • Open Access
2,466 Views
9 Pages

Leptin and Leptin Receptor Polymorphisms in Infants and Their Parents: Correlation with Preterm Birth

  • Francesco Savino,
  • Allegra Sardo,
  • Stefano Gambarino,
  • Maddalena Dini,
  • Anna Clemente,
  • Anna Pau,
  • Ilaria Galliano and
  • Massimiliano Bergallo

22 January 2024

It has been proven that single-nucleotide polymorphisms (SNPs) in LEP and LEPR genes could predispose individuals to an increased risk of pregnancy adverse outcomes (PAOs) such as recurrent pregnancy loss (RPL) and pre-eclampsia. Preterm birth (PTB)...

  • Article
  • Open Access
4 Citations
2,669 Views
14 Pages

Comparative Metabolome and Transcriptome Analyses Reveal the Regulatory Mechanism of Purple Leafstalk Production in Taro (Colocasia esculenta L. Schott)

  • Shizheng Jiang,
  • Juxian Guo,
  • Imran Khan,
  • Mohammad Shah Jahan,
  • Kang Tang,
  • Guihua Li,
  • Xian Yang and
  • Mei Fu

22 January 2024

Taro is a plant in the Araceae family, and its leafstalk possesses significant botanical and culinary value owing to its noteworthy medicinal and nutritional attributes. Leafstalk colour is an essential attribute that significantly influences its des...

  • Review
  • Open Access
9 Citations
7,465 Views
32 Pages

Genetic Changes in Mastocytes and Their Significance in Mast Cell Tumor Prognosis and Treatment

  • Szymon Zmorzynski,
  • Aleksandra Kimicka-Szajwaj,
  • Angelika Szajwaj,
  • Joanna Czerwik-Marcinkowska and
  • Jacek Wojcierowski

22 January 2024

Mast cell tumors are a large group of diseases occurring in dogs, cats, mice, as well as in humans. Systemic mastocytosis (SM) is a disease involving the accumulation of mast cells in organs. KIT gene mutations are very often seen in abnormal mast ce...

  • Article
  • Open Access
5 Citations
2,671 Views
13 Pages

Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline

  • Joohyun Park,
  • Marc Sturm,
  • Olga Seibel-Kelemen,
  • Stephan Ossowski and
  • Tobias B. Haack

22 January 2024

The potential of genome sequencing (GS), which allows detection of almost all types of genetic variation across nearly the entire genome of an individual, greatly expands the possibility for diagnosing genetic disorders. The opportunities provided wi...

  • Review
  • Open Access
3 Citations
5,512 Views
17 Pages

22 January 2024

Approximately 6% of adults worldwide suffer from peripheral artery disease (PAD), primarily caused by atherosclerosis of lower limb arteries. Despite optimal medical care and revascularization, many PAD patients remain symptomatic and progress to cri...

  • Article
  • Open Access
2 Citations
3,833 Views
10 Pages

Aromatic L-Amino Acid Decarboxylase Deficiency: A Genetic Screening in Sicilian Patients with Neurological Disorders

  • Sandro Santa Paola,
  • Francesco Domenico Di Blasi,
  • Eugenia Borgione,
  • Mariangela Lo Giudice,
  • Marika Giuliano,
  • Rosa Pettinato,
  • Vincenzo Di Stefano,
  • Filippo Brighina,
  • Antonino Lupica and
  • Carmela Scuderi

21 January 2024

Aromatic L-amino acid decarboxylase deficiency (AADCd) is a rare autosomal recessive neurometabolic disorder caused by AADC deficiency, an enzyme encoded by the DDC gene. Since the enzyme is involved in the biosynthesis of serotonin and dopamine, its...

  • Communication
  • Open Access
2 Citations
2,456 Views
8 Pages

Molecular Characteristics of Bean Common Mosaic Virus Occurring in Inner Mongolia, China

  • Jingru Li,
  • Zhengnan Li,
  • Zhanmin Wu,
  • Yu Sun,
  • Suqing Niu,
  • Mengze Guo and
  • Lei Zhang

21 January 2024

Bean common mosaic virus (BCMV) was detected on common bean (Phaseolus vulgaris) plants showing wrinkled and/or narrow leaves, curling, shrinking and chlorosis of leaves, dwarfing of plants, and mottled pods in Inner Mongolia and named BCMV-22Huhe. I...

  • Article
  • Open Access
12 Citations
5,915 Views
12 Pages

21 January 2024

Objective: This study explores the potential causal association between proprotein convertase subtilisin/kexin 9 (PCSK9) inhibitors and tumor development using Mendelian randomization (MR) based on drug targets. Methods: Instrumental variables within...

  • Article
  • Open Access
4 Citations
2,670 Views
14 Pages

21 January 2024

Euonymus japonicus is one of the most low-temperature-tolerant evergreen broad-leaved tree species in the world and is widely used in urban greening. However, there are very few molecular biology studies on its low-temperature tolerance mechanism. So...

  • Article
  • Open Access
2,952 Views
11 Pages

First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review

  • Elia Marco Paolo Minale,
  • Alessandro De Falco,
  • Emanuele Agolini,
  • Antonio Novelli,
  • Roberta Russo,
  • Immacolata Andolfo,
  • Achille Iolascon and
  • Carmelo Piscopo

20 January 2024

Cranio-lenticulo-sutural dysplasia (CLSD, OMIM #607812) is a rare genetic condition characterized by late-closing fontanels, skeletal defects, dysmorphisms, and congenital cataracts that are caused by bi-allelic or monoallelic variants in the SEC23A...

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Genes - ISSN 2073-4425