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Genes, Volume 14, Issue 12

December 2023 - 129 articles

Cover Story: Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder characterized by progressive heterotopic ossification, wherein soft connective tissues undergo pathological transformation into bone structures. This write-up offers a comprehensive overview of the contemporary understanding of FOP’s complex pathobiology, underscored by advances in molecular genetics and proteomic studies. We delve into targeted therapy, spanning genetic therapeutics, enzymatic and transcriptional modulation, stem cell therapies, and innovative immunotherapies. We also highlight the intricate complexities surrounding clinical trial design for ultra-rare disorders like FOP, addressing fundamental statistical limitations, ethical conundrums, and methodological advancements essential for the success of interventional studies. View this paper
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Articles (129)

  • Article
  • Open Access
4 Citations
2,565 Views
16 Pages

10 December 2023

Niclosamide (NIC, 2′,5-dichloro-4′-nitrosalicylanilide) is a salicylanilide molluscicide, and the extensive utilization and environmental pollution associated with NIC engender a potential hazard to both human health and the wellbeing of...

  • Case Report
  • Open Access
1 Citations
2,266 Views
10 Pages

A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features

  • Francesco Nicola Riviello,
  • Alessia Daponte,
  • Emanuela Ponzi,
  • Romina Ficarella,
  • Paola Orsini,
  • Roberta Bucci,
  • Mario Ventura,
  • Francesca Antonacci,
  • Claudia Rita Catacchio and
  • Mattia Gentile

10 December 2023

Large-scale genomic structural variations can have significant clinical implications, depending on the specific altered genomic region. Briefly, 2q37 microdeletion syndrome is a prevalent subtelomeric deletion disorder characterized by variable-sized...

  • Article
  • Open Access
3 Citations
2,500 Views
17 Pages

Polymer Modeling Reveals Interplay between Physical Properties of Chromosomal DNA and the Size and Distribution of Condensin-Based Chromatin Loops

  • Daniel Kolbin,
  • Benjamin L. Walker,
  • Caitlin Hult,
  • John Donoghue Stanton,
  • David Adalsteinsson,
  • M. Gregory Forest and
  • Kerry Bloom

9 December 2023

Transient DNA loops occur throughout the genome due to thermal fluctuations of DNA and the function of SMC complex proteins such as condensin and cohesin. Transient crosslinking within and between chromosomes and loop extrusion by SMCs have profound...

  • Review
  • Open Access
9 Citations
3,881 Views
14 Pages

Uncovering the Genetics and Physiology behind Optic Neuritis

  • Ilaria Del Negro,
  • Giada Pauletto,
  • Lorenzo Verriello,
  • Leopoldo Spadea,
  • Carlo Salati,
  • Tamara Ius and
  • Marco Zeppieri

9 December 2023

Optic neuritis (ON) is an inflammatory condition affecting the optic nerve, leading to vision impairment and potential vision loss. This manuscript aims to provide a comprehensive review of the current understanding of ON, including its definition, e...

  • Article
  • Open Access
4 Citations
3,469 Views
14 Pages

Potential Causal Association between Depression and Oral Diseases: A Mendelian Randomization Study

  • Xiaobin Zhang,
  • Hehe Jiang,
  • Linlin Zhang,
  • Chunjing Li,
  • Chen Chen,
  • Mengzhen Xing,
  • Yuning Ma and
  • Yuxia Ma

8 December 2023

Background: Globally, oral diseases are common, pose an economic burden, and significantly decline the quality of life of affected individuals. Recently, researchers have substantially highlighted the effect of depression on oral disease incidence an...

  • Article
  • Open Access
7 Citations
2,171 Views
17 Pages

Cloning, Identification, and Functional Analysis of the Foxl2 Gene in Procambarus clarkii

  • Jin Huang,
  • Weilin Zhu,
  • Min Peng,
  • Chunling Yang,
  • Xiaohan Chen,
  • Tiejun Wu,
  • Digang Zeng,
  • Yongzhen Zhao and
  • Xiuli Chen

8 December 2023

Procambarus clarkii is the most widely distributed freshwater shrimp in China, with important economic value and great potential for development. The forkheadboxL2 (Foxl2) gene has been found to be involved in the reproductive development of many cru...

  • Article
  • Open Access
1 Citations
3,495 Views
14 Pages

8 December 2023

Background: Traumatic spinal cord injury (SCI) is a disabling condition that affects millions of people around the world. Currently, no clinical treatment can restore spinal cord function. Comparison of molecular responses in regenerating to non-rege...

  • Case Report
  • Open Access
2 Citations
3,018 Views
10 Pages

Optical Genome Mapping Helps to Identify BCR::JAK2 Rearrangement Arising from Cryptic Complex Chromosomal Aberrations: A Case Report and Literature Review

  • Neelam Vanjari,
  • Guilin Tang,
  • Gokce A. Toruner,
  • Wei Wang,
  • Beenu Thakral,
  • Ming Zhao,
  • Bhavana J. Dave,
  • Joseph D. Khoury,
  • L. Jeffrey Medeiros and
  • Zhenya Tang

8 December 2023

We report a case of myeloproliferative neoplasm, not otherwise specified (MPN-NOS)-transformed AML with BCR::JAK2 rearrangement. Chromosomal analysis indicated a simple abnormal karyotype 46,XY,t(7;17)(q21;q24),t(9;22)(p24;q11.2). Fluorescence in sit...

  • Article
  • Open Access
1 Citations
2,401 Views
13 Pages

Evaluation of Cell-Specific Alterations in Alzheimer’s Disease and Relevance of In Vitro Models

  • Giorgio Guido,
  • Katia Mangano,
  • Lyubka Tancheva,
  • Reni Kalfin,
  • Gian Marco Leone,
  • Andrea Saraceno,
  • Paolo Fagone,
  • Ferdinando Nicoletti and
  • Maria Cristina Petralia

7 December 2023

Alzheimer’s disease (AD) is a neurodegenerative disorder classically characterized by two neuropathological hallmarks: β-amyloid plaques and tau tangles in the brain. However, the cellular and molecular mechanisms involved in AD are still...

  • Article
  • Open Access
6 Citations
2,299 Views
12 Pages

Genome-Wide Association Study of Arsenic Accumulation in Polished Rice

  • Zheng Dong,
  • Liang Guo,
  • Xiaoxiang Li,
  • Yongchao Li,
  • Wenqiang Liu,
  • Zuwu Chen,
  • Licheng Liu,
  • Zhixi Liu,
  • Yujing Guo and
  • Xiaowu Pan

7 December 2023

The accumulation of arsenic (As) in rice poses a significant threat to food safety and human health. Breeding rice varieties with low As accumulation is an effective strategy for mitigating the health risks associated with arsenic-contaminated rice....

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Genes - ISSN 2073-4425