Global Medical Genetics最新文献_第3页

Mesenchymal Stem Cells Applications in Alzheimer's Disease 间充质干细胞在阿尔茨海默病中的应用

IF 1.7

Global Medical Genetics Pub Date : 2023-12-01 DOI: 10.1055/s-0043-1777087

Oluwatosin Debola Oyebode, P. Tulay

引用次数: 0

Spleen-Derived CCL9 Recruits MDSC to Facilitate Tumor Growth in Orthotopic Hepatoma Mice. 脾源CCL9募集MDSC促进原位肝癌小鼠肿瘤生长

IF 1.7

Global Medical Genetics Pub Date : 2023-12-01 DOI: 10.1055/s-0043-1777327

Baohua Li, Wenjuan Li, Yingxue Liang, Chen Zhang, Guangyao Kong, Zongfang Li

{"title":"Spleen-Derived CCL9 Recruits MDSC to Facilitate Tumor Growth in Orthotopic Hepatoma Mice.","authors":"Baohua Li, Wenjuan Li, Yingxue Liang, Chen Zhang, Guangyao Kong, Zongfang Li","doi":"10.1055/s-0043-1777327","DOIUrl":"10.1055/s-0043-1777327","url":null,"abstract":"Objectives Spleen is involved in multiple diseases, the role of the spleen and spleen-derived factors in hepatocellular carcinoma (HCC) is still not clarified. Methods In the current study, a murine H22 orthotopic hepatoma model was established. Three groups were divided: normal mice, tumor-bearing mice with spleen-preserving, and tumor-bearing mice with splenectomy. Spleen and tumor weights were recorded by weeks 1 and 2. The proportion of myeloid-derived suppressor cell (MDSC) in peripheral blood and tumor tissue was detected using flow cytometry. Protein chip assay was used to compare the differential cytokines between normal liver supernatant and tumor supernatant. The common upregulated cytokines both in spleen and tumor were focused and analyzed using gene expression profiling interactive analysis (GEPIA) database. Enzyme-linked immunosorbent assay was performed to verify the chip result, and to examine CCL9 expression before and after splenectomy. Spleen MDSC was sorted using flow cytometry, and chemotaxis assay was performed to demonstrate whether CCL9 attracted spleen MDSC. Results The spleen enlarged during tumor progression, and compared with splenectomy group, there were faster tumor growth, shorter survival time, and higher proportions of MDSC in spleen-preserving group. Protein chip assay and GEPIA database revealed CCL9 was the most promising chemokine involved in HCC upregulated both in spleen and tumor tissue. CCL9 attracted MDSC in vitro, the level of CCL9 in tumor tissue was downregulated, and the percentage of MDSC was decreased after splenectomy. Conclusion The results demonstrate that CCL9 may be derived from spleen; it facilitated HCC growth via the chemotaxis of MDSC, targeting CCL9 may be a promising strategy in HCC treatment.","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"10 4","pages":"348-356"},"PeriodicalIF":1.7,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10691915/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138478849","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Screening for Mutations in Hereditary Cancer Susceptibility Genes in a Region with High Endogamy in Brazil 在巴西一个内婚率较高的地区筛查遗传性癌症易感基因突变

IF 1.7

Global Medical Genetics Pub Date : 2023-12-01 DOI: 10.1055/s-0043-1777449

Polyanna C Oliveira, Paula Correa, A. Acosta, J. Freitas, T. Machado-Lopes, T. Bomfim-Palma, Ândrea Ribeiro-Dos-Santos, Sidney Santos, Roberto Nascimento, I. Nascimento, K. Abé-Sandes

{"title":"Screening for Mutations in Hereditary Cancer Susceptibility Genes in a Region with High Endogamy in Brazil","authors":"Polyanna C Oliveira, Paula Correa, A. Acosta, J. Freitas, T. Machado-Lopes, T. Bomfim-Palma, Ândrea Ribeiro-Dos-Santos, Sidney Santos, Roberto Nascimento, I. Nascimento, K. Abé-Sandes","doi":"10.1055/s-0043-1777449","DOIUrl":"https://doi.org/10.1055/s-0043-1777449","url":null,"abstract":"Abstract Introduction Cancer is a multifactorial disease dependent on the influence of genetic and environmental factors. About 10% of cancers are associated with germline mutations, which predispose to a higher risk of developing cancer. Currently, the use of panels that identify susceptibility and/or association genes cancer has been increasingly used, both in clinical practice and in scientific research. Objective To investigate genetic mutations in patients with a profile for hereditary cancer in individuals from a region of northeast Brazil, where there is a high frequency of endogenous and consanguineous marriages. Methods A set of 17 genes ( BRCA1 , BRCA2 , APC , TP53 , PTEN , RET , VHL , RB1 , CDKN2 , CDH1 , CHEK2 , MLH1 , MSH2 , MSH6 , MUTYH , XPA , and XPC ) associated with cancer and hereditary syndromes were analyzed. Fifteen patients with a hereditary cancer profile were evaluated. Results The pathogenic variant found was c.1187G > A (p.Gly396Asp), rs36053993 in the MUTYH gene in a male patient diagnosed with melanoma at the age of 43 years and a family history for this tumor. This gene encodes an important enzyme related to DNA repair and has been associated with other types of cancer, this is the first report of an association with melanoma, the biological plausibility of this association is given once the MUTYH protein is expressed in the skin tissue and is responsible for repairing damage caused, for example, by sun exposure. Conclusion The results of this study suggest that this mutation may be important for the hereditary predisposition to melanoma, but a broader investigation of this mutation is needed.","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"34 S129","pages":"376 - 381"},"PeriodicalIF":1.7,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138622698","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Early is Better: Report of a Cowden Syndrome. 越早越好:一例考登综合征。

IF 1.7

Global Medical Genetics Pub Date : 2023-11-27 eCollection Date: 2023-12-01 DOI: 10.1055/s-0043-1777275

A Di Nora, G Pellino, A Di Mari, F Scarlata, F Greco, P Pavone

引用次数: 0

Genetics and Genomics of Chronic Pancreatitis with a Focus on Disease Biology and Molecular Pathogenesis. 慢性胰腺炎的遗传学和基因组学与疾病生物学和分子发病机制。

IF 1.7

Global Medical Genetics Pub Date : 2023-11-22 eCollection Date: 2023-12-01 DOI: 10.1055/s-0043-1776981

Erum Khan, Soura Chakrabarty, Sanobar Shariff, Mainak Bardhan

{"title":"Genetics and Genomics of Chronic Pancreatitis with a Focus on Disease Biology and Molecular Pathogenesis.","authors":"Erum Khan, Soura Chakrabarty, Sanobar Shariff, Mainak Bardhan","doi":"10.1055/s-0043-1776981","DOIUrl":"https://doi.org/10.1055/s-0043-1776981","url":null,"abstract":"Chronic pancreatitis is a long-term fibroinflammatory condition of the pancreas with varying incidences across countries. The recent increase in its occurrence implies the involvement of genetic, hereditary, and unconventional risk factors. However, there is a lack of updated literature on recent advances in genetic polymorphisms of chronic pancreatitis. Therefore, this review aims to present recent findings on the genetic implications of chronic pancreatitis based on individual gene mechanisms and to discuss epigenetics and epistasis involved in the disease. Four mechanisms have been implicated in the pathogenesis of chronic pancreatitis, including premature activation of proteases, endoplasmic reticulum stress, ductal pathway dysfunction, and inflammatory pathway dysfunction. These mechanisms involve genes such as PRSS1, PRSS2, SPINK, CEL, PNLIP, PNLIPRP2, CFTR, CaSR, CLDN2, Alpha 1 antitrypsin, and GGT1 . Studying genetic polymorphisms on the basis of altered genes and their products may aid clinicians in identifying predispositions in patients with and without common risk factors. Further research may also identify associations between genetic predispositions and disease staging or prognosis, leading to personalized treatment protocols and precision medicine.","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"10 4","pages":"324-334"},"PeriodicalIF":1.7,"publicationDate":"2023-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10665123/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138463282","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Severe Hypernatremia as Presentation of Netherton Syndrome. 严重高钠血症是内瑟顿综合征的表现。

IF 1.7

Global Medical Genetics Pub Date : 2023-11-22 eCollection Date: 2023-12-01 DOI: 10.1055/s-0043-1776983

A Di Nora, M C Consentino, G Messina, T Timpanaro, P Smilari, P Pavone

引用次数: 0

The Epigenetic Regulation of Quiescent in Stem Cells. 干细胞静息的表观遗传调控。

IF 1.7

Global Medical Genetics Pub Date : 2023-11-22 eCollection Date: 2023-12-01 DOI: 10.1055/s-0043-1777072

Mehran Radak, Hossein Fallahi

{"title":"The Epigenetic Regulation of Quiescent in Stem Cells.","authors":"Mehran Radak, Hossein Fallahi","doi":"10.1055/s-0043-1777072","DOIUrl":"https://doi.org/10.1055/s-0043-1777072","url":null,"abstract":"This review article discusses the epigenetic regulation of quiescent stem cells. Quiescent stem cells are a rare population of stem cells that remain in a state of cell cycle arrest until activated to proliferate and differentiate. The molecular signature of quiescent stem cells is characterized by unique epigenetic modifications, including histone modifications and deoxyribonucleic acid (DNA) methylation. These modifications play critical roles in regulating stem cell behavior, including maintenance of quiescence, proliferation, and differentiation. The article specifically focuses on the role of histone modifications and DNA methylation in quiescent stem cells, and how these modifications can be dynamically regulated by environmental cues. The future perspectives of quiescent stem cell research are also discussed, including their potential for tissue repair and regeneration, their role in aging and age-related diseases, and their implications for cancer research. Overall, this review provides a comprehensive overview of the epigenetic regulation of quiescent stem cells and highlights the potential of this research for the development of new therapies in regenerative medicine, aging research, and cancer biology.","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"10 4","pages":"339-344"},"PeriodicalIF":1.7,"publicationDate":"2023-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10665124/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138463286","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Clinical Significance of MicroRNAs in Colorectal Cancer Signaling Pathways: A Review. microrna在结直肠癌信号通路中的临床意义综述

IF 1.7

Global Medical Genetics Pub Date : 2023-11-22 eCollection Date: 2023-12-01 DOI: 10.1055/s-0043-1777094

Athanasios Michas, Vasileios Michas, Evangelos Anagnostou, Michail Galanopoulos, Maria Tolia, Nikolaos Tsoukalas

{"title":"The Clinical Significance of MicroRNAs in Colorectal Cancer Signaling Pathways: A Review.","authors":"Athanasios Michas, Vasileios Michas, Evangelos Anagnostou, Michail Galanopoulos, Maria Tolia, Nikolaos Tsoukalas","doi":"10.1055/s-0043-1777094","DOIUrl":"https://doi.org/10.1055/s-0043-1777094","url":null,"abstract":"Colorectal carcinoma (colon and rectum) is currently considered among the most prevalent malignancies of Western societies. The pathogenesis and etiological mechanisms underlying colorectal cancer (CRC) development remain complex and heterogeneous. The homeostasis and function of normal human intestinal cells is highly regulated by microRNAs. Therefore, it is not surprising that mutations and inactivation of these molecules appear to be linked with progression of colorectal tumors. Recent studies have reported significant alterations of microRNA expression in adenomas and CRCs compared with adjacent normal tissues. This observed deviation has been proposed to correlate with the progression and survival of disease as well as with choice of optimal treatment and drug resistance. MicroRNAs can adopt either oncogenic or tumor-suppressive roles during regulation of pathways that drive carcinogenesis. Typically, oncogenic microRNAs termed oncomirs, target and silence endogenous tumor-suppressor genes. On the other hand, tumor-suppressive microRNAs are critical in downregulating genes associated with cell growth and malignant capabilities. By extensively evaluating robust studies, we have emphasized and distinguished a discrete set of microRNAs that can modulate tumor progression by silencing specific driver genes crucial in signaling pathways including Wnt/b-catenin, epidermal growth factor receptor, P53, mismatch repair DNA repair, and transforming-growth factor beta.","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"10 4","pages":"315-323"},"PeriodicalIF":1.7,"publicationDate":"2023-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10665125/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138463285","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Molecular Mimicry between Meningococcal B Factor H-Binding Protein and Human Proteins. 脑膜炎球菌B因子h结合蛋白与人蛋白的分子模拟。

IF 1.7

Global Medical Genetics Pub Date : 2023-11-16 eCollection Date: 2023-12-01 DOI: 10.1055/s-0043-1776985

Darja Kanduc

引用次数: 0

Unraveling FOXO3a and USP18 Functions in Idiopathic Pulmonary Fibrosis through Single-Cell RNA Sequencing of Mouse and Human Lungs. 通过小鼠和人肺单细胞RNA测序揭示FOXO3a和USP18在特发性肺纤维化中的功能

IF 1.7

Global Medical Genetics Pub Date : 2023-11-15 eCollection Date: 2023-12-01 DOI: 10.1055/s-0043-1776697

Ban Wang, Jichun Pan, Zhonghui Liu

{"title":"Unraveling FOXO3a and USP18 Functions in Idiopathic Pulmonary Fibrosis through Single-Cell RNA Sequencing of Mouse and Human Lungs.","authors":"Ban Wang, Jichun Pan, Zhonghui Liu","doi":"10.1055/s-0043-1776697","DOIUrl":"https://doi.org/10.1055/s-0043-1776697","url":null,"abstract":"Background Idiopathic pulmonary fibrosis (IPF) is identified as a chronic, progressive lung disease, predominantly marked by enhanced fibroblast proliferation and excessive deposition of extracellular matrix. The intricate interactions between diverse molecular pathways in fibroblasts play a crucial role in driving the pathogenesis of IPF. Methods This research is focused on elucidating the roles of FOXO3a, a transcription factor, and USP18, a ubiquitin-specific protease, in modulating fibroblast functionality in the context of IPF. FOXO3a is well-known for its regulatory effects on cellular responses, including apoptosis and oxidative stress, while USP18 is generally associated with protein deubiquitination. Results Our findings highlight that FOXO3a acts as a critical regulator in controlling fibroblast activation and differentiation, illustrating its vital role in the pathology of IPF. Conversely, USP18 seems to promote fibroblast proliferation and imparts resistance to apoptosis, thereby contributing to the exacerbation of fibrotic processes. The synergistic dysregulation of both FOXO3a and USP18 in fibroblasts was found to significantly contribute to the fibrotic alterations characteristic of IPF. Conclusion Deciphering the complex molecular interactions between FOXO3a and USP18 in fibroblasts provides a deeper understanding of IPF pathogenesis and unveils novel therapeutic avenues, offering a promising potential for not just halting but potentially reversing the progression of this debilitating disease.","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"10 4","pages":"301-310"},"PeriodicalIF":1.7,"publicationDate":"2023-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10651367/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138463287","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0