You are currently viewing a new version of our website. To view the old version click .

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
  • Issues are regarded as officially published after their release is announced to the table of contents alert mailing list .
  • You may sign up for email alerts to receive table of contents of newly released issues.
  • PDF is the official format for papers published in both, html and pdf forms. To view the papers in pdf format, click on the "PDF Full-text" link, and use the free Adobe Reader to open them.

Articles (129)

  • Review
  • Open Access
14 Citations
4,279 Views
26 Pages

16 December 2023

Colon cancer (CRC) is a prevalent malignancy that exhibits distinct differences in incidence, prognosis, and treatment responses between males and females. These disparities have long been attributed to hormonal differences, particularly the influenc...

  • Article
  • Open Access
3 Citations
2,029 Views
17 Pages

Integrative Physiological and Transcriptome Analysis Reveals the Mechanism of Cd Tolerance in Sinapis alba

  • Mengxian Cai,
  • Tinghai Yang,
  • Shiting Fang,
  • Lvlan Ye,
  • Lei Gu,
  • Hongcheng Wang,
  • Xuye Du,
  • Bin Zhu,
  • Tuo Zeng and
  • Tao Peng

16 December 2023

Recently, pollution caused by the heavy metal Cd has seriously affected the environment and agricultural crops. While Sinapis alba is known for its edible and medicinal value, its tolerance to Cd and molecular response mechanism remain unknown. This...

  • Article
  • Open Access
1 Citations
2,391 Views
14 Pages

Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome

  • Alessandra Ferrario,
  • Nijas Aliu,
  • Claudine Rieubland,
  • Sébastian Vuilleumier,
  • Hilary M. Grabe and
  • Pascal Escher

16 December 2023

Chromosomal abnormalities on the short arm of chromosome 2 in the region p11.2 have been associated with developmental delay, intellectual disability, facial anomalies, abnormal ears, skeletal and genital malformations. Here we describe a patient wit...

  • Article
  • Open Access
2 Citations
3,299 Views
20 Pages

16 December 2023

Fungal pathogens can have devastating effects on global crop production, leading to annual economic losses ranging from 10% to 23%. In light of climate change-related challenges, researchers anticipate an increase in fungal infections as a result of...

  • Article
  • Open Access
2 Citations
2,898 Views
12 Pages

15 December 2023

Bacteriophage λ’s CI repressor protein controls a genetic switch between the virus’s lysogenic and lytic lifecycles, in part, by selectively binding to six different DNA sequences within the phage genome—collectively referred...

  • Article
  • Open Access
4 Citations
1,801 Views
13 Pages

Comprehensive Analysis of miRNA and mRNA Expression Profiles during Muscle Development of the Longissimus Dorsi Muscle in Gannan Yaks and Jeryaks

  • Dashan Guo,
  • Yali Wei,
  • Xupeng Li,
  • Yanbin Bai,
  • Zhanxin Liu,
  • Jingsheng Li,
  • Zongchang Chen,
  • Bingang Shi,
  • Xiaolan Zhang and
  • Zhidong Zhao
  • + 6 authors

15 December 2023

A hybrid offspring of Gannan yak and Jersey cattle, the Jeryak exhibits apparent hybrid advantages over the Gannan yak in terms of production performance and other factors. The small non-coding RNAs known as miRNAs post-transcriptionally exert a sign...

  • Article
  • Open Access
2 Citations
2,532 Views
10 Pages

Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing

  • Rafael de Marchi,
  • Tatiele Nalin,
  • Fernanda Sperb-Ludwig,
  • Franciele Cabral Pinheiro,
  • Ida Vanessa Doederlein Schwartz and
  • Carlos Eduardo Steiner

15 December 2023

This study sought to analyze whether an accurate diagnosis of the type and subtype of hepatic Glycogen Storage Diseases (GSDs) could be performed based on general clinical and biochemical aspects via comparing the proposed diagnostic hypotheses with...

  • Article
  • Open Access
1 Citations
3,958 Views
17 Pages

Compilation of Genotype and Phenotype Data in GCDH-LOVD for Variant Classification and Further Application

  • Alexandra Tibelius,
  • Christina Evers,
  • Sabrina Oeser,
  • Isabelle Rinke,
  • Anna Jauch and
  • Katrin Hinderhofer

14 December 2023

Glutaric aciduria type 1 (GA-1) is a rare but treatable autosomal-recessive neurometabolic disorder of lysin metabolism caused by biallelic pathogenic variants in glutaryl-CoA dehydrogenase gene (GCDH) that lead to deficiency of GCDH protein. Without...

  • Review
  • Open Access
8 Citations
2,679 Views
20 Pages

The Euphrates Poplar Responses to Abiotic Stress and Its Unique Traits in Dry Regions of China (Xinjiang and Inner Mongolia): What Should We Know?

  • Boniface Ndayambaza,
  • Jianhua Si,
  • Yanfang Deng,
  • Bing Jia,
  • Xiaohui He,
  • Dongmeng Zhou,
  • Chunlin Wang,
  • Xinglin Zhu,
  • Zijin Liu and
  • Jie Qin
  • + 2 authors

14 December 2023

At the moment, drought, salinity, and low-temperature stress are ubiquitous environmental issues. In arid regions including Xinjiang and Inner Mongolia and other areas worldwide, the area of tree plantations appears to be rising, triggering tree grow...

  • Review
  • Open Access
16 Citations
5,937 Views
24 Pages

Microbiota-Induced Epigenetic Alterations in Depressive Disorders Are Targets for Nutritional and Probiotic Therapies

  • Shabnam Nohesara,
  • Hamid Mostafavi Abdolmaleky,
  • Jin-Rong Zhou and
  • Sam Thiagalingam

14 December 2023

Major depressive disorder (MDD) is a complex disorder and a leading cause of disability in 280 million people worldwide. Many environmental factors, such as microbes, drugs, and diet, are involved in the pathogenesis of depressive disorders. However,...

of 13

Get Alerted

Add your email address to receive forthcoming issues of this journal.

XFacebookLinkedIn
Genes - ISSN 2073-4425