Key m6A regulators mediated methylation modification pattern and immune infiltration characterization in hepatic ischemia-reperfusion injury
N6-methyladenosine (m6A) mRNA modification plays a critical role in various human biological processes. However, there has been no study reported to elucidate its role in hepatic ischemia-reperfusion injury (IRI)... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - December 4, 2023 Category: Genetics & Stem Cells Authors: Yixi Zhang, Can Qi, Yiwen Guo, Xuefeng Li and Zebin Zhu Tags: Research Source Type: research
A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review
Distal chromosome 16 duplication syndrome (also known as 16q partial trisomy) is a very rare genetic disorder recently described in few clinical reports. 16q trisomy is generally associated with a multisystemi... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - December 4, 2023 Category: Genetics & Stem Cells Authors: Antonino Moschella, Anna Paola Capra, Domenico Corica, Giorgia Pepe, Silvia Di Tommaso, Ester Sallicandro, Malgorzata G. Wasniewska, Silvana Briuglia and Tommaso Aversa Tags: Case Report Source Type: research
Integrated analysis of microRNA and mRNA expression profiles in Preeclampsia
This study was conducted to identify ke... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - December 1, 2023 Category: Genetics & Stem Cells Authors: Zepeng Ping, Ying Feng, Ying Lu, Ling Ai and Huling Jiang Tags: Research Source Type: research
Prenatal diagnosis of 1408 foetuses at risk of DMD/BMD by MLPA and Sanger sequencing combined with STR linkage analysis
This study is a retrospective analysis of the prenatal genetic diagnosis results of 1408 foetuses at high risk of DMD/BMD to provide information for clinical genetic counselling. (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - December 1, 2023 Category: Genetics & Stem Cells Authors: Chunxiao Hua, Lina Liu and Xiangdong Kong Tags: Research Source Type: research
Identification of differentially expressed genes associated with the pathogenesis of gastric cancer by bioinformatics analysis
Gastric cancer (GC) is one of the most diagnosed cancers worldwide. GC is a heterogeneous disease whose pathogenesis has not been entirely understood. Besides, the GC prognosis for patients remains poor. Hence... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - December 1, 2023 Category: Genetics & Stem Cells Authors: Fatemeh Abdolahi, Ali Shahraki, Roghayeh Sheervalilou and Sedigheh Sadat Mortazavi Tags: Research Source Type: research
Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?
Friedreich ataxia is the most common inherited ataxia in Europe and is mainly caused by biallelic pathogenic expansions of the GAA trinucleotide repeat in intron 1 of the FXN gene that lead to a decrease in frata... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - December 1, 2023 Category: Genetics & Stem Cells Authors: Cinthia Aguilera, Anna Esteve-Garcia, Carlos Casasnovas, Valentina V élez-Santamaria, Laura Rausell, Pablo Gargallo, Javier Garcia-Planells, Pedro Alía, Núria Llecha and Ariadna Padró-Miquel Tags: Case Report Source Type: research
Identifying potential pathogenesis and immune infiltration in diabetic foot ulcers using bioinformatics and in vitro analyses
Diabetic foot ulcers (DFU) are among the fastest-growing diseases worldwide. Recent evidence has emphasized the critical role of microRNA (miRNA)-mRNA networks in various chronic wounds, including DFU. In this... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - December 1, 2023 Category: Genetics & Stem Cells Authors: Yuanyuan Xu, Jianchang Xu, Sirong Chen, Anbang Zhou, Guangjing Huang, Shidao Huang, Dianbo Yu and Biaoliang Wu Tags: Research Source Type: research
An association between ATP7B expression and human cancer prognosis and immunotherapy: a pan-cancer perspective
ATP7B is a copper-transporting protein that contributes to the chemo-resistance of human cancer cells. It remains unclear what the molecular mechanisms behind ATP7B are in cancer, as well as its role in human ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - November 30, 2023 Category: Genetics & Stem Cells Authors: Zhanzhan Zhang, Aobo Zhang, Yunpeng Shi, Zijun Zhao and Zongmao Zhao Tags: Research Source Type: research
Specific expression profile of follicular fluid-derived exosomal microRNAs in patients with diminished ovarian reserve
Diminished ovarian reserve (DOR) is defined as a reduction in ovarian reserve and oocyte quality. The pathophysiology of DOR has not been completely explained as of yet. Scholars have uncovered a large number ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - November 30, 2023 Category: Genetics & Stem Cells Authors: Kai-Yuan Shen, Xiao-Li Dai, Shun Li, Fen Huang, Li-Qun Chen, Ping Luo and Xiao-Li Qu Tags: Research Source Type: research
Evaluation of causal associations between interleukin-18 levels and immune-mediated inflammatory diseases: a Mendelian randomization study
This study aimed to examine the causal associat... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - November 29, 2023 Category: Genetics & Stem Cells Authors: Jialing Wu, Xi Zhang, Dongze Wu, Ou Jin and Jieruo Gu Tags: Research Source Type: research
Screening of key genes in the pathogenesis of muscle atrophy in CKD-PEW children based on RNA sequencing
In children with CKD, Protein Energy Wasting (PEW) is common, which affects the outcome of children and is an important cause of poor prognosis. We are aiming to explore the pathogenesis of muscle wasting in C... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - November 28, 2023 Category: Genetics & Stem Cells Authors: Liang Ying, Jiang Yeping, Wang Hui, Zhou Nan, FuQian and Shen Ying Tags: Research Source Type: research
A novel necroptosis signature for predicting survival in lung adenocarcinoma
To explore the necroptosis-related genes (NRGs) signature and its predictive values in lung adenocarcinoma (LUAD). (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - November 28, 2023 Category: Genetics & Stem Cells Authors: Kui Zang, Min Wang, Xingxing Zhu, Bin Yao and Ying Huang Tags: Research Source Type: research
Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure
In 2018, our center started a program to offer genetic diagnosis to patients with kidney and liver monogenic rare conditions, potentially eligible for organ transplantation. We exploited a clinical exome seque... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - November 27, 2023 Category: Genetics & Stem Cells Authors: Claudia Saglia, Valeria Bracciam à, Luca Trotta, Fiorenza Mioli, Angelo Corso Faini, Giulia Margherita Brach Del Prever, Silvia Kalantari, Maria Luca, Carmelo Maria Romeo, Caterina Scolari, Licia Peruzzi, Pier Luigi Calvo, Alessandro Mussa, Roberta Fenog Tags: Research Source Type: research
Integrated single-cell and bulk RNA sequencing analysis identifies a neoadjuvant chemotherapy-related gene signature for predicting survival and therapy in breast cancer
Neoadjuvant chemotherapy (NAC) is a well-established treatment modality for locally advanced breast cancer (BC). However, it can also result in severe toxicities while controlling tumors... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - November 23, 2023 Category: Genetics & Stem Cells Authors: Xiaojun Zhang, Ran Feng, Junbin Guo, Lihui Pan, Yarong Yao and Jinnan Gao Tags: Research Source Type: research
Retinal nerve fibre layer thinning and corneal nerve loss in patients with Bardet-Biedl syndrome
Bardet-Biedl syndrome (BBS) is an autosomal recessive, genetically heterogeneous, pleiotropic disorder caused by variants in genes involved in the function of the primary cilium. We have harnessed genomics to ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - November 23, 2023 Category: Genetics & Stem Cells Authors: Aziz Belkadi, Gaurav Thareja, Adnan Khan, Nisha Stephan, Shaza Zaghlool, Anna Halama, Ayeda Abdulsalam Ahmed, Yasmin A. Mohamoud, Joel Malek, Karsten Suhre and Rayaz A. Malik Tags: Research Source Type: research
