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Molecular Genetics and Biological Mechanism of Upper Gastrointestinal Diseases 2.0

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

Deadline for manuscript submissions: closed (30 April 2022) | Viewed by 11085

Special Issue Editors


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Guest Editor
Department of Visceral, Transplant, Thoracic and Vascular Surgery, University Hospital of Leipzig, Leipzig, Germany
Interests: moleculargenetic analyses of upper gastrointestinal diseases;esophageal and gastric cancer; intraoperative imaging (hyperspectral imaging and ICG); robotics;minimally invasive visceral surgery
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Guest Editor
Institute of Human Genetics, University Hospital of Marburg, Marburg, Germany
Interests: schizophrenia; bipolar disorder; genome-wide association study
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Moleculargenetic decryptions of upper gastrointestinal disorders have evolved into an emerging field with increasing attention. This holds for benign and malignant diseases and extends far beyond prediction and prevention. Extensive and holistic analyses of the moleculargenetic background in multifactorial upper gastrointestinal diseases—including genetic germline risk variants and somatic mutations, as well as corresponding functional consequences—although still developing and in progress, have already led to a relevant rise in our current understanding. This new knowledge has the ability of early prediction and the possibility of developing targeted therapies, as well as the identification of genetic profiles to predict drug resistance.

In this Special Issue of IJMS, we are presenting the state-of-the-art of the moleculargenetic and biological aspects of upper gastrointestinal diseases by internationally prominent and renowned authors.

Prof. Dr. Ines Gockel
Dr. Johannes Schumacher
Guest Editors

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Keywords

  • molecular genetic analyses of upper gastrointestinal diseases
  • esophageal cancer
  • squamous cell carcinoma of the esophagus
  • Barrett’s adenocarcinoma
  • achalasia
  • GERD (gastroesophageal reflux disease)
  • gastric cancer
  • molecular subtypes of esophageal and gastric cancer
  • multifactorial upper gastrointestinal diseases
  • somatic mutations

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Published Papers (2 papers)

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Review

14 pages, 564 KiB  
Review
Hereditary Diffuse Gastric Cancer: Molecular Genetics, Biological Mechanisms and Current Therapeutic Approaches
by Lidia-Sabina Cosma, Sophie Schlosser, Hauke C. Tews, Martina Müller and Arne Kandulski
Int. J. Mol. Sci. 2022, 23(14), 7821; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms23147821 - 15 Jul 2022
Cited by 9 | Viewed by 2802
Abstract
Hereditary diffuse gastric cancer is an autosomal dominant syndrome characterized by a high prevalence of diffuse gastric cancer and lobular breast cancer. It is caused by inactivating mutations in the tumor suppressor gene CDH1. Genetic testing technologies have become more efficient over [...] Read more.
Hereditary diffuse gastric cancer is an autosomal dominant syndrome characterized by a high prevalence of diffuse gastric cancer and lobular breast cancer. It is caused by inactivating mutations in the tumor suppressor gene CDH1. Genetic testing technologies have become more efficient over the years, also enabling the discovery of other susceptibility genes for gastric cancer, such as CTNNA1 among the most important genes. The diagnosis of pathogenic variant carriers with an increased risk of developing gastric cancer is a selection process involving a multidisciplinary team. To achieve optimal long-term results, it requires shared decision-making in risk management. In this review, we present a synopsis of the molecular changes and current therapeutic approaches in HDGC based on the current literature. Full article
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22 pages, 66436 KiB  
Review
A Focus on Enterochromaffin Cells among the Enteroendocrine Cells: Localization, Morphology, and Role
by Rita Rezzani, Caterina Franco, Lorenzo Franceschetti, Marzia Gianò and Gaia Favero
Int. J. Mol. Sci. 2022, 23(7), 3758; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms23073758 - 29 Mar 2022
Cited by 12 | Viewed by 7756
Abstract
The intestinal epithelium plays a key role in managing the relationship with the environment, the internal and external inputs, and their changes. One percent of the gut epithelium is represented by the enteroendocrine cells. Among the enteroendocrine cells, a group of specific cells [...] Read more.
The intestinal epithelium plays a key role in managing the relationship with the environment, the internal and external inputs, and their changes. One percent of the gut epithelium is represented by the enteroendocrine cells. Among the enteroendocrine cells, a group of specific cells characterized by the presence of yellow granules, the enterochromaffin cells, has been identified. These granules contain many secretion products. Studies showed that these cells are involved in gastrointestinal inflammatory conditions and hyperalgesia; their number increases in these conditions both in affected and not-affected zones of the gut. Moreover, they are involved in the preservation and modulation of the intestinal function and motility, and they sense metabolic–nutritional alterations. Sometimes, they are confused or mixed with other enteroendocrine cells, and it is difficult to define their activity. However, it is known that they change their functions during diseases; they increased in number, but their involvement is related mainly to some secretion products (serotonin, melatonin, substance P). The mechanisms linked to these alterations are not well investigated. Herein, we provide an up-to-date highlight of the main findings about these cells, from their discovery to today. We emphasized their origin, morphology, and their link with diet to better evaluate their role for preventing or treating metabolic disorders considering that these diseases are currently a public health burden. Full article
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