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Genes, Volume 15, Issue 10

2024 October - 112 articles

Cover Story: Spinal muscular atrophy (SMA) is an inherited disorder characterized by motor neuron loss in the spinal cord and lower brainstem. The term “SMA” usually refers to the most common form of SMA, 5q-SMA, which is caused by a biallelic mutation in SMN1 (located on chromosome 5q13). However, long before SMN1 was discovered, other SMA forms were also known to exist. Thus, SMA is now divided into two groups: 5q-SMA and non-5q-SMA. This is a simple and practical classification because curative treatments have been developed for 5q-SMA. To develop treatments for non-5q-SMA diseases, precise diagnosis and an in-depth understanding of the pathogenesis of each disease are required. Here, we present an overview of 5q-SMA and representative non-5q-SMA diseases for pediatric healthcare providers. View this paper
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Articles (112)

  • Article
  • Open Access
4 Citations
1,973 Views
13 Pages

A Study of JUN’s Promoter Region and Its Regulators in Chickens

  • Ruihong Kong,
  • Jieyao Shi,
  • Ke Xie,
  • Han Wu and ,
  • Xu Wang,
  • Yani Zhang and
  • Yingjie Wang
  • + 2 authors+ 0 author

21 October 2024

Background: The Jun proto-oncogene (JUN), also referred to as C-JUN, is an integral component of the JNK signaling pathway, which is crucial for the formation and differentiation of spermatogonial stem cells (SSCs). Investigations into the transcript...

(This article belongs to the Special Issue Genetic Breeding of Poultry)
  • Article
  • Open Access
4 Citations
2,290 Views
14 Pages

ILMCNet: A Deep Neural Network Model That Uses PLM to Process Features and Employs CRF to Predict Protein Secondary Structure

  • Benzhi Dong,
  • Hui Su,
  • Dali Xu,
  • Chang Hou and ,
  • Zheng Liu,
  • Na Niu and
  • Guohua Wang
  • + 2 authors+ 0 author

21 October 2024

Background: Protein secondary structure prediction (PSSP) is a critical task in computational biology, pivotal for understanding protein function and advancing medical diagnostics. Recently, approaches that integrate multiple amino acid sequence feat...

(This article belongs to the Section Technologies and Resources for Genetics)
  • Communication
  • Open Access
4 Citations
4,460 Views
7 Pages

21 October 2024

Background: Arising in the late 1990s, when a promising role in prenatal diagnostics was first delineated for circulating fetal DNA, non-invasive prenatal tests (NIPTs) have been increasingly used with more frequency and popularity. These exams have...

(This article belongs to the Special Issue Advance in Non-invasive Prenatal Testing: Ten Years of cfDNA-Based Screening and Diagnosis)
  • Article
  • Open Access
3 Citations
2,542 Views
14 Pages

GWAS for Drought Resilience Traits in Red Clover (Trifolium pratense L.)

  • Tim Vleugels,
  • Tom Ruttink,
  • Daniel Ariza-Suarez,
  • Reena Dubey and ,
  • Aamir Saleem,
  • Isabel Roldán-Ruiz and
  • Hilde Muylle
  • + 2 authors+ 0 author

21 October 2024

Red clover (Trifolium pratense L.) is a well-appreciated grassland crop in temperate climates but suffers from increasingly frequent and severe drought periods. Molecular markers for drought resilience (DR) would benefit breeding initiatives for red...

(This article belongs to the Special Issue Genomic Studies of Plant Breeding)
  • Article
  • Open Access
3 Citations
2,043 Views
15 Pages

Transcriptome Analysis Deciphers the Underlying Molecular Mechanism of Peanut Lateral Branch Angle Formation Using Erect Branching Mutant

  • Liangqiong He,
  • Conghui Yu,
  • Guanghao Wang,
  • Lei Su and ,
  • Xin Xing,
  • Tiantian Liu,
  • Zhipeng Huang,
  • Han Xia,
  • Shuzhen Zhao and
  • Jiaowen Pan
  • + 9 authors+ 4 authors

21 October 2024

Background The growth habit (GH), also named the branching habit, is an important agronomic trait of peanut and mainly determined by the lateral branch angle (LBA). The branching habit is closely related to peanut mechanized farming, pegging, yield,...

(This article belongs to the Section Plant Genetics and Genomics)
  • Review
  • Open Access
8 Citations
7,769 Views
22 Pages

Update on Inherited Pediatric Motor Neuron Diseases: Clinical Features and Outcome

  • Antonio Trabacca,
  • Camilla Ferrante,
  • Maria Carmela Oliva,
  • Isabella Fanizza and ,
  • Ivana Gallo and
  • Marta De Rinaldis
  • + 1 author+ 0 author

21 October 2024

Background: Inherited pediatric motor neuron diseases (MNDs) are a group of neurodegenerative disorders characterized by the degeneration of motor neurons in the brain and the spinal cord. These diseases can manifest as early as infancy and originate...

(This article belongs to the Special Issue Advances in Genetics of Motor Neuron Diseases)
  • Article
  • Open Access
2 Citations
2,230 Views
16 Pages

Transcriptomic Analysis of Hippocampus abdominalis Larvae Under High Temperature Stress

  • Wenjie Xiao,
  • Baoying Guo,
  • Jie Tan,
  • Changlin Liu and ,
  • Da Jiang,
  • Hao Yu and
  • Zhen Geng
  • + 2 authors+ 0 author

21 October 2024

Objectives: Acute temperature stress was explored in Hippocampus abdominalis through a comprehensive RNA-seq analysis. Methods: RNA-seq was conducted on 20-day-old H. abdominalis after 24 h of temperature stress. Four experimental conditions were est...

(This article belongs to the Special Issue Functional Genomics and Breeding of Animals)
  • Review
  • Open Access
7 Citations
3,560 Views
11 Pages

FIG4-Related Parkinsonism and the Particularities of the I41T Mutation: A Review of the Literature

  • Iro Boura,
  • Irene Areti Giannopoulou,
  • Vasiliki Pavlaki,
  • Georgia Xiromerisiou and ,
  • Panayiotis Mitsias and
  • Cleanthe Spanaki
  • + 1 author+ 0 author

21 October 2024

Background/Objectives: The genetic underpinnings of Parkinson’s disease (PD) and parkinsonism have drawn increasing attention in recent years. Mutations in the Factor-Induced Gene 4 (FIG4) have been implicated in various neurological disorders,...

(This article belongs to the Section Neurogenomics)
  • Article
  • Open Access
1 Citations
2,148 Views
11 Pages

Polymorphic Loci of Adaptively Significant Genes Selection for Determining Nucleotide Polymorphism of Pinus sylvestris L. Populations in the Urals

  • Nikita Chertov,
  • Yana Sboeva,
  • Yulia Nechaeva,
  • Svetlana Boronnikova and ,
  • Andrei Zhulanov,
  • Victoria Pechenkina and
  • Ruslan Kalendar
  • + 2 authors+ 0 author

21 October 2024

Background: Scots Pine is one of the main forest-forming species in boreal forests; it has great economic and ecological significance. This study aimed to develop and test primers for detecting nucleotide polymorphisms in genes that are promising for...

(This article belongs to the Section Population and Evolutionary Genetics and Genomics)
  • Review
  • Open Access
19 Citations
11,471 Views
14 Pages

20 October 2024

Amyotrophic lateral sclerosis (ALS) is a refractory neurodegenerative disease characterized by the degeneration and loss of motor neurons, typically resulting in death within five years of onset. There have been few effective treatments, making the d...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Review
  • Open Access
6 Citations
3,590 Views
17 Pages

Research Progress on Genomic Regions and Candidate Genes Related to Milk Composition Traits of Dairy Goats Based on Functional Genomics: A Narrative Review

  • Xu Yang,
  • Qing Li,
  • Yanyan Wang,
  • Jianmin Wang and ,
  • Jiaqing Hu,
  • Zhibin Ji and
  • Tianle Chao
  • + 2 authors+ 0 author

19 October 2024

Background: Goat milk has gained global attention for its unique nutritional properties and potential health benefits. Advancements in functional genomic technologies have significantly progressed genetic research on milk composition traits in dairy...

(This article belongs to the Special Issue Genetics and Genomics of Sheep and Goat)
  • Article
  • Open Access
3 Citations
1,886 Views
14 Pages

Chromosomal Localization and Diversity Analysis of 5S and 18S Ribosomal DNA in 13 Species from the Genus Ipomoea

  • Jingyu Wu,
  • Tao Lang,
  • Cong Zhang,
  • Fan Yang and ,
  • Feiyang Yang,
  • Huijuan Qu,
  • Zhigang Pu and
  • Junyan Feng
  • + 3 authors+ 0 author

19 October 2024

Background: Sweet potato (Ipomoea batatas (L.) Lam.), a key global root crop, faces challenges due to its narrow genetic background. This issue can be addressed by utilizing the diverse genetic resources of sweet potato’s wild relatives, which...

(This article belongs to the Section Plant Genetics and Genomics)
  • Review
  • Open Access
6 Citations
2,891 Views
7 Pages

Genetic Variation, Polyploidy, Hybridization Influencing the Aroma Profiles of Rosaceae Family

  • Xi Chen,
  • Yu Zhang,
  • Weihua Tang,
  • Geng Zhang and ,
  • Yuanhua Wang and
  • Zhiming Yan
  • + 1 author+ 0 author

18 October 2024

Background: The fragrance and aroma of Rosaceae plants are complex traits influenced by a multitude of factors, with genetic variation standing out as a key determinant which is largely impacted by polyploidy. Polyploidy serves as a crucial evolution...

(This article belongs to the Section Plant Genetics and Genomics)
  • Article
  • Open Access
2 Citations
4,030 Views
12 Pages

Sleep Abnormalities in SLC13A5 Citrate Transporter Disorder

  • Raegan M. Adams,
  • Can Ozlu,
  • Lauren E. Bailey,
  • Rayann M. Solidum and ,
  • Sydney Cooper,
  • Carrie R. Best,
  • Jennifer Elacio,
  • Brian C. Kavanaugh,
  • Tanya L. Brown and
  • Rachel M. Bailey
  • + 9 authors+ 4 authors

18 October 2024

Background: SLC13A5 Citrate Transporter Disorder is a rare pediatric neurodevelopmental disorder. Patients have epilepsy, developmental disability, and impaired mobility. While sleep disorders are common in children with neurodevelopmental disorders,...

(This article belongs to the Special Issue Feature Papers in Human Genomics and Genetic Diseases 2024)
  • Review
  • Open Access
8 Citations
3,583 Views
12 Pages

Exploring Fish Parvalbumins through Allergen Names and Gene Identities

  • Johannes M. Dijkstra,
  • Annette Kuehn,
  • Eiji Sugihara and
  • Yasuto Kondo

18 October 2024

Parvalbumins are the main source of food allergies in fish meat, with each fish possessing multiple different parvalbumins. The naming convention of these allergens in terms of allergen codes (numbers) is species-specific. Allergen codes for parvalbu...

(This article belongs to the Section Animal Genetics and Genomics)
  • Article
  • Open Access
4 Citations
2,049 Views
12 Pages

17 October 2024

Three mitochondrial genomes of Chrysochroinae (Buprestidae) were sequenced and analyzed. The mitogenomes of the genera Catoxantha and Nipponobuprestis are first reportedand Chrysochroa opulenta is a first record for China. The complete mitogenomes of...

(This article belongs to the Special Issue Molecular Evolution, Mitochondrial Genomics and Mitochondrial Genome Expression in Animals: 2024–2025)
  • Article
  • Open Access
5 Citations
5,400 Views
17 Pages

Population Characteristics of the Spectrum and Frequencies of CFTR Gene Mutations in Patients with Cystic Fibrosis from the Republic of Bashkortostan (Russia)

  • Guzel Ayupova,
  • Sergey Litvinov,
  • Vita Akhmetova,
  • Ildar Minniakhmetov and ,
  • Natalia Mokrysheva and
  • Rita Khusainova
  • + 1 author+ 0 author

17 October 2024

Background/Objectives: Cystic fibrosis (CF) is one of the most common autosomal-recessive disorders worldwide. The incidence of CF depends on the prevalence of cystic fibrosis transmembrane conductance regulator gene (CFTR) mutations in the populatio...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Review
  • Open Access
3 Citations
4,268 Views
19 Pages

Genetic Variants of Obesity in Malaysia: A Scoping Review

  • Siti Sarah Hamzah,
  • Liyana Ahmad Zamri,
  • Norhashimah Abu Seman and
  • Nur Azlin Zainal Abidin

17 October 2024

Background: Obesity is a pressing public health issue in Malaysia, involving not only excess weight but also complex metabolic and physiological changes. Addressing these complexities requires comprehensive strategies, including understanding the pop...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Article
  • Open Access
2 Citations
2,241 Views
17 Pages

Combinatorial Anti-Cancer Effect of Polypurine Reverse Hoogsteen Hairpins against KRAS and MYC Targeting in Prostate and Pancreatic Cancer Cell Lines

  • Simonas Valiuska,
  • Kayla K. Elder,
  • Steven J. McKay,
  • Carlos J. Ciudad and ,
  • Véronique Noé and
  • Tracy A. Brooks
  • + 1 author+ 0 author

16 October 2024

Introduction: KRAS and MYC are proto-oncogenes that are strictly regulated in healthy cells that have key roles in several processes such as cell growth, proliferation, differentiation, or apoptosis. These genes are tightly interconnected, and their...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Article
  • Open Access
1 Citations
2,069 Views
22 Pages

Micro RNA-175 Targets Claudin-1 to Inhibit Madin–Darby Canine Kidney Cell Adhesion

  • Xiaoyun Li,
  • Fangfang Ma,
  • Siya Wang,
  • Tian Tang and ,
  • Liyuan Ma,
  • Zilin Qiao,
  • Zhongren Ma,
  • Jiamin Wang and
  • Zhenbin Liu
  • + 4 authors+ 0 author

16 October 2024

Background: The Madin–Darby canine kidney (MDCK) cell line constitutes a key component of influenza vaccine production, but its dependence on adherent growth limits cell culture density and hinders vaccine yield. There is evidence that the use...

(This article belongs to the Special Issue RNAs in Biology)
  • Article
  • Open Access
5 Citations
3,767 Views
13 Pages

Insecticide Resistance and Target-Site Mutations kdr, N1575Y, and Ace-1 in Anopheles gambiae s.l. Populations in a Low-Malaria-Transmission Zone in the Sudanian Region of Senegal

  • Assiyatou Gueye,
  • El Hadji Malick Ngom,
  • Baye Bado Ndoye,
  • Mamadou Lamine Dione and ,
  • Babacar Diouf,
  • El Hadji Ndiaye,
  • Faty Amadou Sy,
  • Marième Guèye,
  • Makhtar Niang and
  • Ibrahima Dia
  • + 7 authors+ 2 authors

16 October 2024

Background/Objectives: Significant progress in malaria control has been achieved through long-lasting insecticidal nets (LLINs) and indoor residual spraying (IRS), raising hopes for malaria elimination. However, emerging insecticide resistance threat...

(This article belongs to the Section Genes & Environments)
  • Article
  • Open Access
10 Citations
8,919 Views
19 Pages

Exploring Eye, Hair, and Skin Pigmentation in a Spanish Population: Insights from Hirisplex-S Predictions

  • Belén Navarro-López,
  • Miriam Baeta,
  • Victoria Suárez-Ulloa,
  • Rubén Martos-Fernández and ,
  • Olatz Moreno-López,
  • Begoña Martínez-Jarreta,
  • Susana Jiménez,
  • Iñigo Olalde and
  • Marian M. de Pancorbo
  • + 4 authors+ 0 author

16 October 2024

Background/Objectives: Understanding and predicting human pigmentation traits is crucial for individual identification. Genome-wide association studies have revealed numerous pigmentation-associated SNPs, indicating genetic overlap among pigmentation...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Article
  • Open Access
7 Citations
3,742 Views
17 Pages

Evaluation of Four Forensic Investigative Genetic Genealogy Analysis Approaches with Decreased Numbers of SNPs and Increased Genotyping Errors

  • Yu Zang,
  • Enlin Wu,
  • Tingjun Li,
  • Jiajun Liu and ,
  • Riga Wu,
  • Ran Li and
  • Hongyu Sun
  • + 2 authors+ 0 author

15 October 2024

Background: Forensic investigative genetic genealogy (FIGG) has developed rapidly in recent years and is considered a novel tool for crime investigation. However, crime scene samples are often of low quality and quantity and are challenging to analyz...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Article
  • Open Access
15 Citations
3,905 Views
24 Pages

Genome-Wide Identification of the Maize Chitinase Gene Family and Analysis of Its Response to Biotic and Abiotic Stresses

  • Tonghan Wang,
  • Changjin Wang,
  • Yang Liu,
  • Kunliang Zou and ,
  • Minghui Guan,
  • Yutong Wu,
  • Shutong Yue,
  • Ying Hu,
  • Haibing Yu and
  • Junli Du
  • + 7 authors+ 2 authors

15 October 2024

Background/Objectives: Chitinases, enzymes belonging to the glycoside hydrolase family, play a crucial role in plant growth and stress response by hydrolyzing chitin, a natural polymer found in fungal cell walls. This study aimed to identify and anal...

(This article belongs to the Special Issue Maize Molecular Genetics and Functional Genomics in 2024)
  • Article
  • Open Access
2 Citations
2,665 Views
10 Pages

Validating Disease Associations of Drug-Metabolizing Enzymes through Genome-Wide Association Study Data Analysis

  • Evan Leskiw,
  • Adeline Whaley,
  • Peter Hopwood,
  • Tailyn Houston and ,
  • Nehal Murib,
  • Donna Al-Falih and
  • Ryoichi Fujiwara
  • + 2 authors+ 0 author

15 October 2024

Background and Objectives: Phase I and phase II drug-metabolizing enzymes are crucial for the metabolism and elimination of various endogenous and exogenous compounds, such as small-molecule hormones, drugs, and xenobiotic carcinogens. While in vitro...

(This article belongs to the Special Issue Molecular Mechanisms Responsible for Radiation-Induced Toxicity of Normal Tissue)
  • Article
  • Open Access
3 Citations
2,087 Views
16 Pages

Exploring Distribution and Evolution of Pi-ta Haplotypes in Rice Landraces across Different Rice Cultivation Regions in Yunnan

  • Hengming Luo,
  • Lin Lu,
  • Qun Wang,
  • Zhixiang Guo and ,
  • Lina Liu,
  • Chi He,
  • Junyi Shi,
  • Chao Dong,
  • Qiaoping Ma and
  • Jinbin Li
  • + 5 authors+ 0 author

15 October 2024

Background: Rice blast, caused by Magnaporthe oryzae, seriously damages the yield and quality of rice worldwide. Pi-ta is a durable resistance gene that combats M. oryzae carrying AVR-Pita1. However, the distribution of the Pi-ta gene in rice germpla...

(This article belongs to the Section Genes & Environments)
  • Article
  • Open Access
2 Citations
3,055 Views
11 Pages

APOBR Is Downregulated in EBV+ Tonsils of Children with Obstructive Sleep-Disordered Breathing

  • Regie Lyn P. Santos-Cortez,
  • Helen Z. Gomez,
  • Christina L. Elling,
  • Landen Mayher and ,
  • Obinna R. Diala,
  • Colin Gardner,
  • Kiera Willford,
  • Valerie C. Zamora,
  • Ashley Agyepong and
  • Brian W. Herrmann
  • + 15 authors+ 10 authors

14 October 2024

Background: Obstructive sleep-disordered breathing (oSDB) is a heterogeneous phenotype that is increasing in prevalence worldwide and has many potential comorbidities that could severely affect quality of life. There is a need to identify biomarkers...

(This article belongs to the Special Issue Feature Papers in Human Genomics and Genetic Diseases 2024)
  • Article
  • Open Access
1 Citations
2,419 Views
17 Pages

Cross-Species Susceptibility of Emerging Variants of SARS-CoV-2 Spike

  • Meng Li,
  • Fei Lv,
  • Zihao Li,
  • Chenyu Zhao and ,
  • Xiao Wang,
  • Pingfen Zhu and
  • Xuming Zhou
  • + 2 authors+ 0 author

14 October 2024

Background: The continuous evolution of SARS-CoV-2 and the emergence of novel variants with numerous mutations have heightened concerns surrounding the possibility of cross-species transmission and the establishment of natural animal reservoirs for t...

(This article belongs to the Section Animal Genetics and Genomics)
  • Comment
  • Open Access
1 Citations
1,163 Views
2 Pages

14 October 2024

In their article, “Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline”, Haack et al [...]

(This article belongs to the Special Issue Molecular and Genetic Diagnosis of Rare Diseases)
  • Review
  • Open Access
21 Citations
6,297 Views
11 Pages

Advancements in the Impact of Insect Gut Microbiota on Host Feeding Behaviors

  • Yikang Wang,
  • Liang Wang,
  • Di Li,
  • Zhenfu Chen and ,
  • Yang Luo,
  • Juan Zhou,
  • Bo Luo,
  • Rong Yan,
  • Hui Liu and
  • Lingjun Wang
  • + 5 authors+ 0 author

14 October 2024

With the application and development of high-throughput sequencing technology, the structure and function of insect gut microbiota have been analysed, which lays a foundation for further exploring the intricate relationships between gut microbiota an...

(This article belongs to the Section Animal Genetics and Genomics)
  • Article
  • Open Access
11 Citations
3,100 Views
22 Pages

Integrated Transcriptional and Metabolomic Analysis of Factors Influencing Root Tuber Enlargement during Early Sweet Potato Development

  • Yaqin Wu,
  • Xiaojie Jin,
  • Lianjun Wang,
  • Jian Lei and ,
  • Shasha Chai,
  • Chong Wang,
  • Wenying Zhang and
  • Xinsun Yang
  • + 3 authors+ 0 author

14 October 2024

Background: Sweet potato (Ipomoea batatas (L.) Lam.) is widely cultivated as an important food crop. However, the molecular regulatory mechanisms affecting root tuber development are not well understood. Methods: The aim of this study was to systemat...

(This article belongs to the Special Issue Plant Genetic Diversity and Omics Research)
  • Article
  • Open Access
3 Citations
2,671 Views
12 Pages

Characterization of Nuclear Mitochondrial Insertions in Canine Genome Assemblies

  • Peter Z. Schall,
  • Jennifer R. S. Meadows,
  • Fabian Ramos-Almodovar and
  • Jeffrey M. Kidd

14 October 2024

Background: The presence of mitochondrial sequences in the nuclear genome (Numts) confounds analyses of mitochondrial sequence variation, and is a potential source of false positives in disease studies. To improve the analysis of mitochondrial variat...

(This article belongs to the Special Issue Advances in Canine Genetics)
  • Article
  • Open Access
8 Citations
2,125 Views
10 Pages

Simple Sequence Repeat Marker-Based Genetic Diversity and Chemical Composition Analysis of Ancient Camellia sinensis in Jiulong County, Sichuan Province, China

  • Haitao Huang,
  • Shuwen He,
  • Xuxia Zheng,
  • Daliang Shi and ,
  • Peixian Bai,
  • Yun Zhao,
  • Jizhong Yu and
  • Xiaojun Niu
  • + 3 authors+ 0 author

14 October 2024

Background/Objectives: The ancient tea plant germplasm resources are rich in genetic diversity and provide an important basis for the genetic diversity in tea germplasm resources. To explore the genetic diversity of ancient tea plant germplasm resour...

(This article belongs to the Section Plant Genetics and Genomics)
  • Article
  • Open Access
3 Citations
3,311 Views
13 Pages

PRODH Regulates Tamoxifen Resistance through Ferroptosis in Breast Cancer Cells

  • Ping Zhang,
  • Na Qian,
  • Haigen Lai,
  • Shu Chen and ,
  • Kuaiying Wu,
  • Xiaofeng Luo,
  • Bo Lei,
  • Mengqi Liu and
  • Jiajun Cui
  • + 4 authors+ 0 author

14 October 2024

Background: Estrogen receptor-positive breast cancer accounts for around 70% of all cases. Tamoxifen, an anti-estrogenic inhibitor, is the primary drug used for this type of breast cancer treatment. However, tamoxifen resistance is a major challenge...

(This article belongs to the Special Issue Signaling Pathway of Cancer)
  • Review
  • Open Access
23 Citations
7,392 Views
25 Pages

13 October 2024

Multiple morphological abnormalities of the sperm flagella (MMAF) is a specific form of severe flagellar or ciliary deficiency syndrome. MMAF is characterized by primary infertility with abnormal morphology in the flagella of spermatozoa, presenting...

(This article belongs to the Special Issue Molecular Basis of Rare Genetic Diseases)
  • Article
  • Open Access
8 Citations
1,769 Views
12 Pages

Metagenomic Sequencing Elucidated the Microbial Diversity of Rearing Water Environments for Sichuan Taimen (Hucho bleekeri)

  • Qinyao Wei,
  • Zhaobin Song,
  • Yeyu Chen,
  • Huanchao Yang and ,
  • Yanling Chen,
  • Zhao Liu,
  • Yi Yu,
  • Quanyu Tu,
  • Jun Du and
  • Hua Li
  • + 5 authors+ 0 author

12 October 2024

Background: Sichuan taimen (Hucho bleekeri) is a fish species endemic to China’s upper Yangtze River drainage and has significant value as an aquatic resource. It was listed as a first-class state-protected wild animal by the Chinese government...

(This article belongs to the Section Microbial Genetics and Genomics)
  • Review
  • Open Access
42 Citations
7,777 Views
19 Pages

Role of Circulating microRNAs in Liver Disease and HCC: Focus on miR-122

  • Francesco Colaianni,
  • Veronica Zelli,
  • Chiara Compagnoni,
  • Martina Sara Miscione and ,
  • Mario Rossi,
  • Davide Vecchiotti,
  • Monica Di Padova,
  • Edoardo Alesse,
  • Francesca Zazzeroni and
  • Alessandra Tessitore
  • + 5 authors+ 0 author

12 October 2024

miR-122 is the most abundant microRNA (miRNA) in the liver; it regulates several genes mainly involved in cell metabolism and inflammation. Host factors, diet, metabolic disorders and viral infection promote the development of liver diseases, includi...

(This article belongs to the Section RNA)
  • Article
  • Open Access
1 Citations
3,204 Views
8 Pages

Triplication of the PCDH19 Gene as a Novel Disease Mechanism Leading to Epileptic Encephalopathy Resembling Loss-of-Function Pathogenic Variants

  • Alba Gabaldón-Albero,
  • Patricia Smeyers,
  • Sara Hernández-Muela,
  • Mónica Roselló and ,
  • Carmen Orellana,
  • Sandra Monfort,
  • Silvestre Oltra and
  • Francisco Martínez
  • + 3 authors+ 0 author

12 October 2024

Background/Objectives: Developmental and epileptic encephalopathy 9 (DEE9) (MIM #300088) affects heterozygous females and males with somatic pathogenic variants, while male carriers with hemizygous PCDH19 pathogenic variants are clinically unaffected...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Article
  • Open Access
2 Citations
2,978 Views
14 Pages

Genome-Wide Identification and Expression Analysis of SNAP Gene Family in Wheat

  • Xiaohan Zhang,
  • Yanan Yu,
  • Yumeng Sun,
  • Yan Bai and ,
  • Yongjun Shu and
  • Changhong Guo
  • + 1 author+ 0 author

11 October 2024

Background/Objectives: The SNAP gene family is a class of proteins containing a SNAP domain, which plays a crucial role in the growth and development of plants. Methods: Bioinformatics methods were used to systematically analyze the gene structure, p...

(This article belongs to the Section Plant Genetics and Genomics)
  • Article
  • Open Access
14 Citations
5,147 Views
13 Pages

Whole Exome Sequencing and Panel-Based Analysis in 176 Spanish Children with Neurodevelopmental Disorders: Focus on Autism Spectrum Disorder and/or Intellectual Disability/Global Developmental Delay

  • Ariadna Sánchez Suárez,
  • Beatriz Martínez Menéndez,
  • Eduardo Escolar Escamilla,
  • Francisco J. Martínez Sarries and ,
  • Miren Iranzu Esparza Garrido,
  • Belén Gil-Fournier,
  • Soraya Ramiro León,
  • Bárbara Rubio Gribble,
  • Juan F. Quesada Espinosa and
  • Andrés J. Alcaraz Romero
  • + 5 authors+ 0 author

11 October 2024

Background: Neurodevelopmental disorders (NDDs) represent a significant challenge in pediatric genetics, often requiring advanced diagnostic tools for the accurate identification of genetic variants. Objectives: To determine the diagnostic yield of w...

(This article belongs to the Topic Advances in Genetics and Precision Medicine in Human Diseases)
  • Systematic Review
  • Open Access
5 Citations
5,386 Views
20 Pages

Genetics of Calcific Aortic Stenosis: A Systematic Review

  • Vassilios S. Vassiliou,
  • Nicholas Johnson,
  • Kenneth Langlands and
  • Vasiliki Tsampasian

10 October 2024

Background: Calcific aortic stenosis is the most prevalent valvular abnormality in the Western world. Factors commonly associated with calcific aortic stenosis include advanced age, male sex, hypertension, diabetes and impaired renal function. This r...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Article
  • Open Access
4 Citations
2,695 Views
16 Pages

A Comparative Overview of the Role of Human Ribonucleases in Nonsense-Mediated mRNA Decay

  • Paulo J. da Costa,
  • Juliane Menezes,
  • Raquel Guedes,
  • Filipa P. Reis and ,
  • Alexandre Teixeira,
  • Margarida Saramago,
  • Sandra C. Viegas,
  • Cecília M. Arraiano and
  • Luísa Romão
  • + 4 authors+ 0 author

10 October 2024

Eukaryotic cells possess surveillance mechanisms that detect and degrade defective transcripts. Aberrant transcripts include mRNAs with a premature termination codon (PTC), targeted by the nonsense-mediated decay (NMD) pathway, and mRNAs lacking a te...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Article
  • Open Access
11 Citations
2,729 Views
11 Pages

Germplasm Resources Evaluation of Cultured Largemouth Bass (Micropterus salmoides) in China Based on Whole Genome Resequencing

  • Wenzhi Guan,
  • Jieliang Jian,
  • Baolong Niu,
  • Xinhui Zhang and ,
  • Jiongying Yu and
  • Xiaojun Xu
  • + 1 author+ 0 author

10 October 2024

Background: Largemouth bass (Micropterus salmoides), a valuable freshwater fish species, has experienced significant genetic decline in China due to prolonged domestic breeding and limited introduction of new genetic material. It is necessary to have...

(This article belongs to the Section Animal Genetics and Genomics)
  • Article
  • Open Access
5 Citations
2,679 Views
18 Pages

9 October 2024

Background/Objectives: The phytosulfokine receptor (PSKR) gene family plays a crucial role in regulating plant growth, development, and stress response. Here, the PSKR gene family was characterized in Triticum aestivum L. The study aimed to bridge kn...

(This article belongs to the Special Issue Quality Gene Mining and Breeding of Wheat)
  • Review
  • Open Access
4 Citations
3,517 Views
17 Pages

PERM1—An Emerging Transcriptional Regulator of Mitochondrial Biogenesis: A Systematic Review

  • Eveline Soares Menezes,
  • Zeyu Wu,
  • John R. M. Renwick,
  • Andres Moran-MacDonald and
  • Brendon J. Gurd

9 October 2024

Background/Objectives: This systematic review aims to explore the role of PERM1 across different organisms, tissues, and cellular functions, with a particular focus on its involvement in regulating skeletal muscle mitochondrial biogenesis. Methods: T...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Article
  • Open Access
21 Citations
9,640 Views
9 Pages

Chromosome 15q11-q13 Duplication Syndrome: A Review of the Literature and 14 New Cases

  • Maria Bisba,
  • Christina Malamaki,
  • Pantelis Constantoulakis and
  • Spiros Vittas

8 October 2024

The 15q11.2q13 chromosomal region is particularly susceptible to chromosomal rearrangements due to low-copy repeats (LCRs) located inside this area. Specific breakpoints (BP1-BP5) that lead to deletions and duplications of variable size have been ide...

(This article belongs to the Special Issue Molecular Genetics of Neurodevelopmental Disorders)
  • Article
  • Open Access
4 Citations
2,705 Views
16 Pages

Genetic Insights into the Giant Keyhole Limpet (Megathura crenulata), an Eastern Pacific Coastal Endemic: Complete Mitogenome, Phylogenetics, Phylogeography, and Historical Demography

  • Brenda Bonett-Calzada,
  • Fausto Valenzuela-Quiñonez,
  • Miguel A. Del Río-Portilla,
  • Natalia J. Bayona-Vásquez and ,
  • Carmen E. Vargas-Peralta,
  • John R. Hyde and
  • Fabiola Lafarga-De la Cruz
  • + 2 authors+ 0 author

8 October 2024

Background: The giant keyhole limpet Megathura crenulata is a gastropod mollusk (Fissurella superfamily) that is endemic to the eastern Pacific coast from southern California, USA, to Baja California Sur, Mexico. M. crenulata is socioeconomically imp...

(This article belongs to the Special Issue Molecular Evolution, Mitochondrial Genomics and Mitochondrial Genome Expression in Animals: 2024–2025)
  • Article
  • Open Access
5 Citations
4,110 Views
13 Pages

Prognostic Role of Specific KRAS Mutations Detected in Aspiration and Liquid Biopsies from Patients with Pancreatic Cancer

  • Tereza Hálková,
  • Bohuš Bunganič,
  • Eva Traboulsi,
  • Marek Minárik and ,
  • Miroslav Zavoral and
  • Lucie Benešová
  • + 1 author+ 0 author

7 October 2024

Background/Objectives: Although the overall survival prognosis of patients in advanced stages of pancreatic ductal adenocarcinoma (PDAC) is poor, typically ranging from days to months from diagnosis, there are rare cases of patients remaining in ther...

(This article belongs to the Section Human Genomics and Genetic Diseases)

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Genes - ISSN 2073-4425