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Research Advances in Immunogenetics
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Research Advances in Immunogenetics

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

Deadline for manuscript submissions: 20 June 2024 | Viewed by 2970

Special Issue Editor

Prof. Dr. Olga Martinez Ibañez

E-Mail Website
Guest Editor
Laboratory of Immunogenetics, Instituto Butantan, São Paulo, SP, Brazil
Interests: immunogenetics; cellular biology; inflammation; cancer; autoimmune diseases

Special Issue Information

Dear Colleagues,

This Special Issue of the International Journal of Molecular Sciences is dedicated to immunogenetics. The volume aims to collect studies on variations in genetic factors that affect the immune system in the regulation of health and disease. The discovery of genetic factors involved in the regulation of the normal functioning of the immune system and immune defects has resulted in the identification of new therapeutic targets, as well as risk factors for various diseases. The use of modern technology has allowed an increasingly deeper understanding of the molecular bases of genetic diversity, as well as its implications on the mechanisms of natural resistance, and has produced valuable information for the identification of new therapeutic targets for immune diseases. Submissions are welcome in a wide range of studies in experimental and human models that address the genetic control of complex traits such as autoimmune, inflammatory, and degenerative diseases, as well as cancer and infections. The same applies to studies on functional genomics, gene transcription, and post-translational modifications in genes that regulate innate and adaptive immune responses. Original research articles and reviews will be received for publication. In this special volume, we intend to address the following aspects of immunogenetics:

  • Genetics of inflammatory disorders, immune surveillance (autoimmunity and tolerance), and tumor immunity;
  • Primary immune deficiency disorders;
  • Prognostic indicators for diagnosis and therapies;
  • Genetics and vaccine efficacy;
  • Immune system Bioinformatics;
  • Genome-wide association studies (GWASs) and next-generation sequencing (NGS);
  • Genetic variants associated with disease susceptibility and approaches for personalized medicine.

Prof. Dr. Olga Martinez Ibañez
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 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

  • immunogenetics
  • major histocompatibility complex
  • complex traits
  • whole-genome screening
  • SNP
  • genome editing
  • epigenetics
  • genetic risk factors
  • transplantation
  • autoimmune diseases
  • cancer
  • infections
  • neurodegenerative diseases

Published Papers (2 papers)

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Research

17 pages, 356 KiB  
Article
HLA-G Gene Variability Is Associated with Papillary Thyroid Carcinoma Morbidity and the HLA-G Protein Profile
by Bruna C. Bertol, Guilherme Debortoli, Fabrício C. Dias, Jéssica N. G. de Araújo, Luana S. M. Maia, Bibiana S. de Almeida, Nathalie L. de Figueiredo-Feitosa, Luiz Carlos C. de Freitas, Erick C. Castelli, Celso T. Mendes-Junior, Vivian N. Silbiger, Léa M. Z. Maciel and Eduardo A. Donadi
Int. J. Mol. Sci. 2023, 24(16), 12858; https://doi.org/10.3390/ijms241612858 - 16 Aug 2023
Cited by 1 | Viewed by 994
Abstract
Human leukocyte antigen (HLA)-G is an immune checkpoint molecule that is highly expressed in papillary thyroid carcinoma (PTC). The HLA-G gene presents several functional polymorphisms distributed across the coding and regulatory regions (5′URR: 5′ upstream regulatory region and 3′UTR: 3′ untranslated region) and [...] Read more.
Human leukocyte antigen (HLA)-G is an immune checkpoint molecule that is highly expressed in papillary thyroid carcinoma (PTC). The HLA-G gene presents several functional polymorphisms distributed across the coding and regulatory regions (5′URR: 5′ upstream regulatory region and 3′UTR: 3′ untranslated region) and some of them may impact HLA-G expression and human malignancy. To understand the contribution of the HLA-G genetic background in PTC, we studied the HLA-G gene variability in PTC patients in association with tumor morbidity, HLA-G tissue expression, and plasma soluble (sHLA-G) levels. We evaluated 185 PTC patients and 154 healthy controls. Polymorphic sites defining coding, regulatory and extended haplotypes were characterized by sequencing analyses. HLA-G tissue expression and plasma soluble HLA-G levels were evaluated by immunohistochemistry and ELISA, respectively. Compared to the controls, the G0104a(5′URR)G*01:04:04(coding)UTR-03(3’UTR) extended haplotype was underrepresented in the PTC patients, while G0104a(5′URR)G*01:04:01(coding)UTR-03(3′UTR) was less frequent in patients with metastatic and multifocal tumors. Decreased HLA-G tissue expression and undetectable plasma sHLA-G were associated with the G010102a(5′URR)G*01:01:02:01(coding)UTR-02(3′UTR) extended haplotype. We concluded that the HLA-G variability was associated with PTC development and morbidity, as well as the magnitude of the encoded protein expression at local and systemic levels. Full article
(This article belongs to the Special Issue Research Advances in Immunogenetics)
18 pages, 4724 KiB  
Article
BRAF, TERT and HLA-G Status in the Papillary Thyroid Carcinoma: A Clinicopathological Association Study
by Bruna C. Bertol, Juliana D. Massaro, Guilherme Debortoli, André L. P. Santos, Jéssica N. G. de Araújo, Tatiana M. V. Giorgenon, Matheus Costa e Silva, Nathalie L. de Figueiredo-Feitosa, Cristhianna V. A. Collares, Luiz Carlos C. de Freitas, Edson G. Soares, Luciano Neder, Vivian N. Silbiger, Rodrigo T. Calado, Léa M. Z. Maciel and Eduardo A. Donadi
Int. J. Mol. Sci. 2023, 24(15), 12459; https://doi.org/10.3390/ijms241512459 - 05 Aug 2023
Cited by 2 | Viewed by 1582
Abstract
As BRAF, TERT, HLA-G, and microRNAs have been individually associated with papillary thyroid carcinoma (PTC), we aimed to evaluate the individual and collaborative role of these markers in PTC in the same patient cohort. HLA-G and BRAF tumor expression was evaluated by immunohistochemistry. [...] Read more.
As BRAF, TERT, HLA-G, and microRNAs have been individually associated with papillary thyroid carcinoma (PTC), we aimed to evaluate the individual and collaborative role of these markers in PTC in the same patient cohort. HLA-G and BRAF tumor expression was evaluated by immunohistochemistry. Using molecular methods, BRAFV600E and TERT promoter mutations were evaluated in thyroid fine needle aspirates. MicroRNA tumor profiling was investigated using massively parallel sequencing. We observed strong HLA-G (67.96%) while BRAF (62.43%) staining was observed in PTC specimens. BRAF overexpression was associated with poor response to therapy. The BRAFV600E (52.9%) and TERTC228T (13%) mutations were associated with extrathyroidal extension, advanced-age, and advanced-stage cancer. The TERT rs2853669 CC+TC genotypes (38%) were overrepresented in metastatic tumors. Nine modulated microRNAs targeting the BRAF, TERT, and/or HLA-G genes were observed in PTC and involved with cancer-related signaling pathways. The markers were individually associated with PTC features, emphasizing the synergistic effect of BRAFV600E and TERTC228T; however, their collaborative role on PTC outcome was not fully demonstrated. The differentially expressed miRNAs targeting the BRAF and/or HLA-G genes may explain their increased expression in the tumor milieu. Full article
(This article belongs to the Special Issue Research Advances in Immunogenetics)
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