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Molecular Mechanisms Underlying the Pathogenesis of Genetic Diseases
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Molecular Mechanisms Underlying the Pathogenesis of Genetic Diseases

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 20 March 2026 | Viewed by 2743

Special Issue Editor

Dr. Debora Baroni

E-Mail Website
Guest Editor
Istituto di Biofisica (IBF), Consiglio Nazionale delle Ricerche (CNR), Via De Marini 6, 16149 Genova, Italy
Interests: protein processing; protein post-translational modifications; CFTR modulators; CFTR expression and functional assays; epithelial tissue models
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

It is my great pleasure to invite you to contribute to this Special Issue, entitled “Molecular Mechanisms Underlying the Pathogenesis of Genetic Diseases”, which I have the honor of Guest Editing.

Understanding the molecular mechanisms responsible for genetic diseases is crucial to elucidating their pathogenesis and developing targeted therapeutic strategies. This Special Issue invites the submission of high-quality contributions that investigate the molecular basis of genetic disorders, analyze genotype–phenotype correlations, and explore emerging approaches to diagnosis and therapy. Particular attention will be paid to omics-based approaches, the role of modifier genes, and the development of personalized treatments.

Additionally, we encourage submissions focused on the study of the mechanism of action of investigational molecules and drugs currently in clinical trials. Manuscripts addressing clinical trial outcomes, biomarkers for treatment response, and translational research efforts aimed at bridging the gap between basic science and clinical application are also welcome.

We invite original research articles, reviews, and perspective papers on topics including, but not limited to, the following:

  • Molecular mechanisms driving genetic diseases and their functional consequences;
  • Genotype–phenotype correlation and disease variability;
  • Multi-omics approaches (genomics, transcriptomics, proteomics, metabolomics) for studying genetic disorders;
  • The role of modifier genes in disease progression and therapeutic response;
  • Personalized medicine and innovative therapeutic strategies, including gene therapy and targeted pharmacological interventions;
  • Mechanisms of action of investigational molecules and drugs in clinical development;
  • Biomarkers and outcome measures in clinical trials for genetic diseases;
  • Translational research connecting molecular findings to clinical applications.

I look forward to receiving your valuable contributions to advance our understanding of genetic disease mechanisms and therapeutic strategies. Please feel free to contact me if you require any further information.

Dr. Debora Baroni
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • genetic diseases
  • genotype–phenotype correlations
  • multi-omics approaches
  • current and investigational therapeutical approaches
  • personalized medicine

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Published Papers (3 papers)

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Research

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11 pages, 2016 KB  
Article
L467F;F508del Complex Allele in a Heterozygous State with CFTRdele2,3: What to Expect from CFTR Modulators?
by Elena Kondratyeva, Anna Efremova, Yuliya Melyanovskaya, Maria Krasnova, Michael Milovanov, Olga Shchagina, Anna Stepanova, Anna Voronkova, Victoria Sherman, Sergey Kutsev and Dmitry Goldshtein
Int. J. Mol. Sci. 2025, 26(23), 11742; https://doi.org/10.3390/ijms262311742 - 4 Dec 2025
Viewed by 154
Abstract
CFTR modulators have significantly affected the prognosis for cystic fibrosis, improving the clinical course in most patients with the F508del variant and several other CFTR gene variants. The presence of complex alleles, including more than one variant in the cis position, can change [...] Read more.
CFTR modulators have significantly affected the prognosis for cystic fibrosis, improving the clinical course in most patients with the F508del variant and several other CFTR gene variants. The presence of complex alleles, including more than one variant in the cis position, can change the properties of the protein and the efficacy of modulators. Objective: We aimed to describe the efficacy of CFTR modulators in the treatment of two siblings with the c.[1521_1523delCTT;1399C>T];[54-5940_273+10250del21kb] (L467F;F508del/CFTRdele2,3) genotype in clinical practice and in vitro. This article presents the clinical presentation and results of CFTR channel function assessment and personalized selection of CFTR modulators in monochorionic diamniotic twins with cystic fibrosis and the L467F;F508del/CFTRdele2,3 genotype. This is the first demonstration of the efficacy of a new CFTR modulator in patients with a complex allele and a class I variant in the genotype. The obtained results may be useful for choosing treatment strategies for patients with a complex allele and a class I variant in the genotype. Full article
(This article belongs to the Special Issue Molecular Mechanisms Underlying the Pathogenesis of Genetic Diseases)
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11 pages, 1020 KB  
Article
Heterogeneity of Primary Ciliary Dyskinesia Gene Variants: A Genetic Database Analysis in Russia
by Elena I. Kondratyeva, Sergey N. Avdeev, Tatiana A. Kyian, Oksana P. Ryzhkova, Yuliya L. Melyanovskaya, Victoria V. Zabnenkova, Maria V. Bulakh, Zamira M. Merzhoeva, Artem V. Bukhonin, Natalia V. Trushenko, Baina B. Lavginova, Daria O. Zhukova and Sergey I. Kutsev
Int. J. Mol. Sci. 2025, 26(23), 11674; https://doi.org/10.3390/ijms262311674 - 2 Dec 2025
Viewed by 212
Abstract
Primary ciliary dyskinesia (PCD) is a rare hereditary disorder belonging to the group of ciliopathies, with autosomal recessive, autosomal dominant, and, less frequently, X-linked inheritance patterns. The aim of this study was to investigate the genetic heterogeneity of the Russian population of PCD [...] Read more.
Primary ciliary dyskinesia (PCD) is a rare hereditary disorder belonging to the group of ciliopathies, with autosomal recessive, autosomal dominant, and, less frequently, X-linked inheritance patterns. The aim of this study was to investigate the genetic heterogeneity of the Russian population of PCD patients based on national registry data. The study included patients with PCD confirmed by molecular genetic testing. Quantitative data were analyzed using non-parametric statistical methods. Differences were considered statistically significant at p < 0.05. The study included 109 patients with PCD. Molecular genetic testing identified pathogenic variants in 29 autosomal recessive genes. The analysis of pathogenic variant distribution in the Russian PCD cohort revealed the highest number of changes in the DNAH5 and DNAH11 genes. 26 genetic variants in 13 genes were identified for the first time in the Russian population. Variants in the DNAH5 gene were significantly more frequent in Kartagener’s syndrome (KS) patients (32/55%) compared to those without KS (11/21.5%) (χ2 = 12.8; p = 0.0004; OR = 4.48). Preliminary data indicate that the frequency spectrum of DNAH5 and DNAH11 genes in Russian patients is similar to international trends. Additionally, there is an accumulation of pathogenic variants in the DNAH5, DNAH11, CCDC39, and CFAP300 genes. Full article
(This article belongs to the Special Issue Molecular Mechanisms Underlying the Pathogenesis of Genetic Diseases)
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Review

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22 pages, 2003 KB  
Review
Fabry Disease Beyond Storage: The Role of Inflammation in Disease Progression
by Giuseppa Biddeci, Gaetano Spinelli, Paolo Colomba, Giovanni Duro, Irene Giacalone and Francesco Di Blasi
Int. J. Mol. Sci. 2025, 26(15), 7054; https://doi.org/10.3390/ijms26157054 - 22 Jul 2025
Cited by 1 | Viewed by 1953
Abstract
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, resulting in a deficient activity of the enzyme α-galactosidase A (α-Gal A). This deficiency leads to the progressive accumulation of globotriaosylceramide (Gb3) and its deacylated form, [...] Read more.
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, resulting in a deficient activity of the enzyme α-galactosidase A (α-Gal A). This deficiency leads to the progressive accumulation of globotriaosylceramide (Gb3) and its deacylated form, globotriaosylsphingosine (Lyso-Gb3), in various tissues, contributing to a broad spectrum of clinical manifestations. Recent evidence highlights the crucial role of inflammation in the pathophysiology of FD, influencing disease progression and clinical outcomes. This review provides a comprehensive overview of the relationship between inflammation and FD, with a particular focus on the impact of inflammatory processes on disease progression and complications. Full article
(This article belongs to the Special Issue Molecular Mechanisms Underlying the Pathogenesis of Genetic Diseases)
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