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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
2,388 Views
14 Pages

CFHTF2 Is Needed for Vegetative Growth, Conidial Morphogenesis and the Osmotic Stress Response in the Tea Plant Anthracnose (Colletotrichum fructicola)

  • Chengkang Zhang,
  • Ziwen Zhou,
  • Tianlong Guo,
  • Xin Huang,
  • Chengbin Peng,
  • Zhideng Lin,
  • Meixia Chen and
  • Wei Liu

18 December 2023

Tea is an important cash crop worldwide, and its nutritional value has led to its high economic benefits. Tea anthracnose is a common disease of tea plants that seriously affects food safety and yield and has a far-reaching impact on the sustainable...

  • Article
  • Open Access
6 Citations
2,561 Views
23 Pages

Genome-Wide Association Study to Identify Possible Candidate Genes of Snap Bean Leaf and Pod Color

  • Burcu Celebioglu,
  • John P. Hart,
  • Timothy Porch,
  • Phillip Griffiths and
  • James R. Myers

18 December 2023

Color can be an indicator of plant health, quality, and productivity, and is useful to researchers to understand plant nutritional content in their studies. Color may be related to chlorophyll content and photosynthetic activity and provides informat...

  • Brief Report
  • Open Access
5 Citations
3,236 Views
10 Pages

Effects of Platelet Count on Blood Pressure: Evidence from Observational and Genetic Investigations

  • Zhen He,
  • Zekai Chen,
  • Martin H. de Borst,
  • Qingying Zhang,
  • Harold Snieder,
  • Chris H. L. Thio and
  • on behalf of the International Consortium of Blood Pressure

18 December 2023

Platelet count has been associated with blood pressure, but whether this association reflects causality remains unclear. To strengthen the evidence, we conducted a traditional observational analysis in the Lifelines Cohort Study (n = 167,785), and pe...

  • Article
  • Open Access
13 Citations
3,048 Views
15 Pages

18 December 2023

Coptis chinensis is a perennial herb of the Ranunculaceae family. The isoquinoline alkaloid is the main active component of C. chinensis, mainly exists in its rhizomes and has high clinical application potential. The in vitro synthesis of isoquinolin...

  • Article
  • Open Access
4 Citations
2,490 Views
15 Pages

18 December 2023

MICAL2 is an actin-regulatory protein that functions through redox modification of actin. Nuclear localized MICAL2 triggers the disassembly of nuclear actin, which subsequently leads to nuclear retention of the actin-binding transcriptional coregulat...

  • Article
  • Open Access
4 Citations
2,639 Views
16 Pages

18 December 2023

Puerarin, a class of isoflavonoid compounds concentrated in the roots of Puerarias, has antipyretic, sedative, and coronary blood-flow-increasing properties. Although the biosynthetic pathways of puerarin have been investigated by previous researcher...

  • Review
  • Open Access
1 Citations
3,262 Views
16 Pages

Soft Tissue and Bone Tumor Diagnostics: Harnessing the Power of Molecular Techniques

  • Fleur Cordier,
  • Liesbeth Ferdinande,
  • Anne Hoorens,
  • Koen Van de Vijver,
  • Jo Van Dorpe and
  • David Creytens

17 December 2023

Since the introduction of new molecular techniques, the diagnostic landscape of soft tissue and bone tumors has expanded greatly over the past few years. The use of new molecular techniques has led to the identification of new genetic alterations and...

  • Article
  • Open Access
3 Citations
2,788 Views
10 Pages

Influence of Model Structures on Predictors of Protein Stability Changes from Single-Point Mutations

  • Cesare Rollo,
  • Corrado Pancotti,
  • Giovanni Birolo,
  • Ivan Rossi,
  • Tiziana Sanavia and
  • Piero Fariselli

17 December 2023

Missense variation in genomes can affect protein structure stability and, in turn, the cell physiology behavior. Predicting the impact of those variations is relevant, and the best-performing computational tools exploit the protein structure informat...

  • Brief Report
  • Open Access
2 Citations
3,194 Views
16 Pages

Dual Targeting of DNA Damage Response Proteins Implicated in Cancer Radioresistance

  • Spyridon N. Vasilopoulos,
  • Hüseyin Güner,
  • Merve Uça Apaydın,
  • Athanasia Pavlopoulou and
  • Alexandros G. Georgakilas

17 December 2023

Ionizing radiation can induce different types of DNA lesions, leading to genomic instability and ultimately cell death. Radiation therapy or radiotherapy, a major modality in cancer treatment, harnesses the genotoxic potential of radiation to target...

  • Article
  • Open Access
5 Citations
4,299 Views
20 Pages

Comparison of Single Cell Transcriptome Sequencing Methods: Of Mice and Men

  • Bastian V. H. Hornung,
  • Zakia Azmani,
  • Alexander T. den Dekker,
  • Edwin Oole,
  • Zeliha Ozgur,
  • Rutger W. W. Brouwer,
  • Mirjam C. G. N. van den Hout and
  • Wilfred F. J. van IJcken

16 December 2023

Single cell RNAseq has been a big leap in many areas of biology. Rather than investigating gene expression on a whole organism level, this technology enables scientists to get a detailed look at rare single cells or within their cell population of in...

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Genes - ISSN 2073-4425