Submit to IJMS Review for IJMS Propose a Special Issue

Journal Menu

Journal Browser

Rare Diseases - Molecular Mechanisms and Therapeutic Strategies (III)

Print Special Issue Flyer
Special Issue Editors
Special Issue Information
Keywords
Published Papers

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: closed (31 December 2020) | Viewed by 10376

Share This Special Issue

Special Issue Editors

Prof. Dr. Lidia Larizza

E-Mail Website
Guest Editor

Experimental Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Via Ariosto 13, 20145 Milan, Italy
Interests: rare disorders of chromatin regulators; Rubinstein-Taybi and related syndromes of the epigenetic machinery; chromosomal/genomic instability syndromes with cancer predisposition; imprinting disorders affecting growth; neurodevelopmental imprinting disorders; genomic disorders; MARK4 gene; c-kit gene
Special Issues, Collections and Topics in MDPI journals

Prof. Dr. Maria Vittoria Cubellis

E-Mail Website
Guest Editor

Dipartimento di Biologia, Università Federico II, 80126 Napoli, Italy
Interests: protein stability; bioinformatics; PMM2-CDG; Fabry disease; pharmacological chaperones
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

A rare disease is any disease that affects a small percentage of the population. The quantification of “small” is variable, and represents an artificial border that will necessarily change with the diffusion of genetic screening. More than 5000 rare diseases have been described. Nonsense mutations, deletions, and insertions abolish the function of the affected proteins, but missense mutations have variable effects that go from complete inactivation to a mild reduction in activity. At present, more than 70,000 missense mutations have been reported. Taken together, these findings imply that there are different genotypes and phenotypes for any given disease. Bare figures give a flavor of the great challenge represented by rare diseases in terms of both diagnosis and therapy.

We seek papers that look into rare diseases with a genetic, biochemical, or bioinformatic approach. Papers addressing specific pharmacological therapies for rare diseases are especially welcome.

Prof. Lidia Larizza
Prof. Dr. Maria Vittoria Cubellis
Guest Editors

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 100 words) can be sent to the Editorial Office for announcement on this website.

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

rare diseases
genetic diseases, inborn
diagnosis
mutations
epigenetics
drugs
molecular chaperones
drug repositioning
bioinformatics
integrated omics approaches
precision medicine

Published Papers (3 papers)

Download All Papers

Research

Jump to: Review

14 pages, 2895 KiB

Open AccessArticle

Development of a Specific Monoclonal Antibody to Detect Male Cells Expressing the RPS4Y1 Protein

by Silvia Spena, Chiara Cordiglieri, Isabella Garagiola and Flora Peyvandi

Int. J. Mol. Sci. 2021, 22(4), 2001; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22042001 - 18 Feb 2021

Cited by 2 | Viewed by 2018

Abstract

Hemophilia is an X-linked recessive bleeding disorder. In pregnant women carrier of hemophilia, the fetal sex can be determined by non-invasive analysis of fetal DNA circulating in the maternal blood. However, in case of a male fetus, conventional invasive procedures are required for the diagnosis of hemophilia. Fetal cells, circulating in the maternal bloodstream, are an ideal target for a safe non-invasive prenatal diagnosis. Nevertheless, the small number of cells and the lack of specific fetal markers have been the most limiting factors for their isolation. We aimed to develop monoclonal antibodies (mAbs) against the ribosomal protein RPS4Y1 expressed in male cells. By Western blotting, immunoprecipitation and immunofluorescence analyses performed on cell lysates from male human hepatoma (HepG2) and female human embryonic kidney (HEK293) we developed and characterized a specific monoclonal antibody against the native form of the male RPS4Y1 protein that can distinguish male from female cells. The availability of the RPS4Y1-targeting monoclonal antibody should facilitate the development of novel methods for the reliable isolation of male fetal cells from the maternal blood and their future use for non-invasive prenatal diagnosis of X-linked inherited disease such as hemophilia. Full article

(This article belongs to the Special Issue Rare Diseases - Molecular Mechanisms and Therapeutic Strategies (III))

► Show Figures

Figure 1

19 pages, 2945 KiB

Open AccessArticle

An Integrative Transcriptomic Analysis of Systemic Juvenile Idiopathic Arthritis for Identifying Potential Genetic Markers and Drug Candidates

by Daeun Kim, Jaeseung Song, Sora Lee, Junghyun Jung and Wonhee Jang

Int. J. Mol. Sci. 2021, 22(2), 712; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22020712 - 12 Jan 2021

Cited by 5 | Viewed by 2434

Abstract

Systemic juvenile idiopathic arthritis (sJIA) is a rare subtype of juvenile idiopathic arthritis, whose clinical features are systemic fever and rash accompanied by painful joints and inflammation. Even though sJIA has been reported to be an autoinflammatory disorder, its exact pathogenesis remains unclear. In this study, we integrated a meta-analysis with a weighted gene co-expression network analysis (WGCNA) using 5 microarray datasets and an RNA sequencing dataset to understand the interconnection of susceptibility genes for sJIA. Using the integrative analysis, we identified a robust sJIA signature that consisted of 2 co-expressed gene sets comprising 103 up-regulated genes and 25 down-regulated genes in sJIA patients compared with healthy controls. Among the 128 sJIA signature genes, we identified an up-regulated cluster of 11 genes and a down-regulated cluster of 4 genes, which may play key roles in the pathogenesis of sJIA. We then detected 10 bioactive molecules targeting the significant gene clusters as potential novel drug candidates for sJIA using an in silico drug repositioning analysis. These findings suggest that the gene clusters may be potential genetic markers of sJIA and 10 drug candidates can contribute to the development of new therapeutic options for sJIA. Full article

(This article belongs to the Special Issue Rare Diseases - Molecular Mechanisms and Therapeutic Strategies (III))

► Show Figures

Figure 1

Review

Jump to: Research

14 pages, 739 KiB

Open AccessReview

Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome

by Gabriela Gajek, Anna S. Świerzko and Maciej Cedzyński

Int. J. Mol. Sci. 2020, 21(15), 5483; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms21155483 - 31 Jul 2020

Cited by 17 | Viewed by 5316

Abstract

The Malpuech, Michels, Mingarelli, Carnevale (3MC) syndrome is a rare, autosomal recessive genetic- disorder associated with mutations in the MASP1/3, COLEC1,1 or COLEC10 genes. The number of 3MC patients with known mutations in these three genes reported so far remains very small. To date, 16 mutations in MASP-1/3, 12 mutations in COLEC11 and three in COLEC10 associated with 3MC syndrome have been identified. Their products play an essential role as factors involved in the activation of complement via the lectin or alternative (MASP-3) pathways. Recent data indicate that mannose-binding lectin-associated serine protease-1 (MASP-1), MASP-3, collectin kidney-1 (collectin-11) (CL-K1), and collectin liver-1 (collectin-10) (CL-L1) also participate in the correct migration of neural crest cells (NCC) during embryogenesis. This is supported by relationships between MASP1/3, COLEC10, and COLEC11 gene mutations and the incidence of 3MC syndrome, associated with craniofacial abnormalities such as radioulnar synostosis high-arched eyebrows, cleft lip/palate, hearing loss, and ptosis. Full article

(This article belongs to the Special Issue Rare Diseases - Molecular Mechanisms and Therapeutic Strategies (III))

► Show Figures