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Genes, Volume 12, Issue 9

September 2021 - 168 articles

Cover Story: In this article, we report the identification and characterisation of novel biallelic SYNE2 (Nesprin-2 giant; (SR5 domain)) missense mutations in a patient with autism spectrum disorder (ASD) and intellectual disability. Nesprins are typically positioned on the nuclear membrane and constitute the LINC complex (LInker of the Nucleoskeleton and Cytoskeleton), a macromolecular assembly, which mechanically tethers the cytoskeleton with the nuclear interior. This association is essential for basic cellular processes, including polarisation, migration, signalling, gene regulation and repair. Many of these functions are implicated in brain development (e.g., neurogenesis and neuronal cell migration), explaining why nesprin-2 mutations may lead to ASD. View this paper.
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Articles (168)

  • Article
  • Open Access
3 Citations
3,026 Views
19 Pages

Novel Approach Combining Transcriptional and Evolutionary Signatures to Identify New Multiciliation Genes

  • Audrey Defosset,
  • Dorine Merlat,
  • Laetitia Poidevin,
  • Yannis Nevers,
  • Arnaud Kress,
  • Olivier Poch and
  • Odile Lecompte

21 September 2021

Multiciliogenesis is a complex process that allows the generation of hundreds of motile cilia on the surface of specialized cells, to create fluid flow across epithelial surfaces. Dysfunction of human multiciliated cells is associated with diseases o...

  • Article
  • Open Access
12 Citations
14,372 Views
14 Pages

The Mitochondrial DNA Landscape of Modern Mexico

  • Martin Bodner,
  • Ugo A. Perego,
  • J. Edgar Gomez,
  • Ricardo M. Cerda-Flores,
  • Nicola Rambaldi Migliore,
  • Scott R. Woodward,
  • Walther Parson and
  • Alessandro Achilli

21 September 2021

Mexico is a rich source for anthropological and population genetic studies with high diversity in ethnic and linguistic groups. The country witnessed the rise and fall of major civilizations, including the Maya and Aztec, but resulting from European...

  • Review
  • Open Access
10 Citations
5,277 Views
18 Pages

21 September 2021

What is the actual impact of music on the human being and the scope for scientific research in this realm? Compared to other areas, the study of the relationship between music and human biology has received limited attention. At the same time, eviden...

  • Article
  • Open Access
34 Citations
3,791 Views
15 Pages

CpBBX19, a B-Box Transcription Factor Gene of Chimonanthus praecox, Improves Salt and Drought Tolerance in Arabidopsis

  • Huafeng Wu,
  • Xia Wang,
  • Yinzhu Cao,
  • Haiyuan Zhang,
  • Run Hua,
  • Huamin Liu and
  • Shunzhao Sui

21 September 2021

Zinc-finger proteins are important transcription factors in plants, responding to adversity and regulating the growth and development of plants. However, the roles of the BBX gene family of zinc-finger proteins in wintersweet (Chimonanthus praecox) h...

  • Article
  • Open Access
1 Citations
3,668 Views
12 Pages

Improved Large-Scale Homology Search by Two-Step Seed Search Using Multiple Reduced Amino Acid Alphabets

  • Kazuki Takabatake,
  • Kazuki Izawa,
  • Motohiro Akikawa,
  • Keisuke Yanagisawa,
  • Masahito Ohue and
  • Yutaka Akiyama

21 September 2021

Metagenomic analysis, a technique used to comprehensively analyze microorganisms present in the environment, requires performing high-precision homology searches on large amounts of sequencing data, the size of which has increased dramatically with t...

  • Review
  • Open Access
33 Citations
5,267 Views
14 Pages

Alternative Splicing in Cardiovascular Disease—A Survey of Recent Findings

  • Ena Hasimbegovic,
  • Victor Schweiger,
  • Nina Kastner,
  • Andreas Spannbauer,
  • Denise Traxler,
  • Dominika Lukovic,
  • Mariann Gyöngyösi and
  • Julia Mester-Tonczar

21 September 2021

Alternative splicing, a driver of posttranscriptional variance, differs from canonical splicing by arranging the introns and exons of an immature pre-mRNA transcript in a multitude of different ways. Although alternative splicing was discovered almos...

  • Article
  • Open Access
23 Citations
4,833 Views
12 Pages

Metatranscriptomic Analysis of Human Lung Metagenomes from Patients with Lung Cancer

  • Ya-Sian Chang,
  • Ming-Hung Hsu,
  • Siang-Jyun Tu,
  • Ju-Chen Yen,
  • Ya-Ting Lee,
  • Hsin-Yuan Fang and
  • Jan-Gowth Chang

21 September 2021

This study was designed to characterize the microbiomes of the lung tissues of lung cancer patients. RNA-sequencing was performed on lung tumor samples from 49 patients with lung cancer. Metatranscriptomics data were analyzed using SAMSA2 and Kraken2...

  • Review
  • Open Access
34 Citations
8,887 Views
26 Pages

Genetic Regulation of Avian Testis Development

  • Martin Andres Estermann,
  • Andrew Thomas Major and
  • Craig Allen Smith

21 September 2021

As in other vertebrates, avian testes are the site of spermatogenesis and androgen production. The paired testes of birds differentiate during embryogenesis, first marked by the development of pre-Sertoli cells in the gonadal primordium and their con...

  • Article
  • Open Access
13 Citations
4,456 Views
14 Pages

21 September 2021

The modulation of dynamic histone acetylation states is key for organizing chromatin structure and modulating gene expression and is regulated by histone acetyltransferase (HAT) and histone deacetylase (HDAC) enzymes. The mammalian SIRT6 protein, a m...

  • Review
  • Open Access
17 Citations
10,008 Views
16 Pages

p53 mRNA Metabolism Links with the DNA Damage Response

  • Sivakumar Vadivel Gnanasundram,
  • Ondrej Bonczek,
  • Lixiao Wang,
  • Sa Chen and
  • Robin Fahraeus

20 September 2021

Human cells are subjected to continuous challenges by different genotoxic stress attacks. DNA damage leads to erroneous mutations, which can alter the function of oncogenes or tumor suppressors, resulting in cancer development. To circumvent this, ce...

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Genes - ISSN 2073-4425Creative Common CC BY license