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Genes, Volume 15, Issue 10

October 2024 - 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
1,423 Views
13 Pages

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

  • Ruihong Kong,
  • Jieyao Shi,
  • Ke Xie,
  • Han Wu,
  • Xu Wang,
  • Yani Zhang and
  • Yingjie Wang

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...

  • Article
  • Open Access
2 Citations
1,693 Views
14 Pages

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...

  • Communication
  • Open Access
3,140 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...

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

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

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

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...

  • Article
  • Open Access
1,437 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,
  • Xin Xing,
  • Tiantian Liu,
  • Zhipeng Huang,
  • Han Xia,
  • Shuzhen Zhao and
  • Zhongkui Gao
  • + 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,...

  • Review
  • Open Access
2 Citations
4,234 Views
22 Pages

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

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

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...

  • Article
  • Open Access
1,636 Views
16 Pages

Transcriptomic Analysis of Hippocampus abdominalis Larvae Under High Temperature Stress

  • Wenjie Xiao,
  • Baoying Guo,
  • Jie Tan,
  • Changlin Liu,
  • Da Jiang,
  • Hao Yu and
  • Zhen Geng

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...

  • Review
  • Open Access
4 Citations
2,390 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,
  • Panayiotis Mitsias and
  • Cleanthe Spanaki

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,...

  • Article
  • Open Access
1,527 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,
  • Andrei Zhulanov,
  • Victoria Pechenkina and
  • Ruslan Kalendar

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...

  • Review
  • Open Access
6 Citations
7,878 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...

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Genes - ISSN 2073-4425Creative Common CC BY license