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Gene Regulation in Endocrine Disease

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

Deadline for manuscript submissions: 30 June 2024 | Viewed by 1014

Special Issue Editor

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Guest Editor
Unit of Endocrinology, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy
Interests: osteoporosis; metabolic bone diseases; parathyroid diseases; multiple endocrine neoplasia; genetic diseases of bone
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Special Issue Information

Dear Colleagues,

Gene regulation, a finely tuned process, governs the activation or repression of genes, ensuring a dynamic response to internal and external cues. Within the context of endocrine physiology, this regulation is particularly crucial, dictating the synthesis and secretion of hormones that exert systemic effects on diverse tissues and organs. The dysregulation of gene expression in the endocrine system can lead to a spectrum of diseases, ranging from subtle imbalances to overt pathological states.

Endocrine diseases, sporadic and inherited or heritable, encompass a broad spectrum of conditions, including diabetes mellitus, thyroid disorders, adrenal dysfunction, neuroendocrine tumors, and disorders of the reproductive system. In each case, the perturbation of gene regulation emerges as a critical player, influencing the synthesis, release, and responsiveness of hormones. The advent of advanced genomic technologies has empowered researchers to dissect the genetic basis of these diseases, paving the way for targeted therapeutic approaches and precision medicine.

The integration of molecular genetics and endocrinology has unveiled a rich tapestry of mechanisms through which gene regulation contributes to the development and progression of endocrine disorders. From mutations in transcription factors that modulate hormone synthesis to alterations in the regulatory regions of hormone-encoding genes, the genetic landscape of endocrine diseases is becoming increasingly better understood at a molecular level. This Special Issue seeks to unravel the intricate interplay between gene regulation and endocrine diseases, offering insights into the molecular underpinnings that shape the pathophysiology of disorders within the endocrine system.

Dr. Alberto Falchetti
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.

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  • gene regulation
  • endocrine disease
  • endocrinology
  • diabetes mellitus
  • thyroid disorders

Published Papers (1 paper)

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17 pages, 2540 KiB  
Genomic Regions and Candidate Genes Affecting Response to Heat Stress with Newcastle Virus Infection in Commercial Layer Chicks Using Chicken 600K Single Nucleotide Polymorphism Array
by Ying Wang, Perot Saelao, Ganrea Chanthavixay, Rodrigo A. Gallardo, Anna Wolc, Janet E. Fulton, Jack M. Dekkers, Susan J. Lamont, Terra R. Kelly and Huaijun Zhou
Int. J. Mol. Sci. 2024, 25(5), 2640; https://doi.org/10.3390/ijms25052640 - 24 Feb 2024
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Heat stress results in significant economic losses to the poultry industry. Genetics plays an important role in chickens adapting to the warm environment. Physiological parameters such as hematochemical parameters change in response to heat stress in chickens. To explore the genetics of heat [...] Read more.
Heat stress results in significant economic losses to the poultry industry. Genetics plays an important role in chickens adapting to the warm environment. Physiological parameters such as hematochemical parameters change in response to heat stress in chickens. To explore the genetics of heat stress resilience in chickens, a genome-wide association study (GWAS) was conducted using Hy-Line Brown layer chicks subjected to either high ambient temperature or combined high temperature and Newcastle disease virus infection. Hematochemical parameters were measured during three treatment phases: acute heat stress, chronic heat stress, and chronic heat stress combined with NDV infection. Significant changes in blood parameters were recorded for 11 parameters (sodium (Na+, potassium (K+), ionized calcium (iCa2+), glucose (Glu), pH, carbon dioxide partial pressure (PCO2), oxygen partial pressure (PO2), total carbon dioxide (TCO2), bicarbonate (HCO3), base excess (BE), and oxygen saturation (sO2)) across the three treatments. The GWAS revealed 39 significant SNPs (p < 0.05) for seven parameters, located on Gallus gallus chromosomes (GGA) 1, 3, 4, 6, 11, and 12. The significant genomic regions were further investigated to examine if the genes within the regions were associated with the corresponding traits under heat stress. A candidate gene list including genes in the identified genomic regions that were also differentially expressed in chicken tissues under heat stress was generated. Understanding the correlation between genetic variants and resilience to heat stress is an important step towards improving heat tolerance in poultry. Full article
(This article belongs to the Special Issue Gene Regulation in Endocrine Disease)
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