Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders
Multilocus pathogenic variants (MPVs) are genetic changes that affect multiple gene loci or regions of the genome, collectively leading to multiple molecular diagnoses. MPVs may also contribute to intrafamilia... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 16, 2024 Category: Genetics & Stem Cells Authors: Tugce Bozkurt-Yozgatli, Davut Pehlivan, Richard A. Gibbs, Ugur Sezerman, Jennifer E. Posey, James R. Lupski and Zeynep Coban-Akdemir Tags: Research Source Type: research
An exosome mRNA-related gene risk model to evaluate the tumor microenvironment and predict prognosis in hepatocellular carcinoma
The interplay between exosomes and the tumor microenvironment (TME) remains unclear. We investigated the influence of exosomes on the TME in hepatocellular carcinoma (HCC), focusing on their mRNA expression pr... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 16, 2024 Category: Genetics & Stem Cells Authors: Zhonghai Du, Xiuchen Han, Liping Zhu, Li Li, Leandro Castellano, Justin Stebbing, Ling Peng and Zhiqiang Wang Tags: Research Source Type: research
Identification and analysis of MSC-Exo-derived LncRNAs related to the regulation of EMT in hypospadias
This study aims to screen the differentially expressed long non-coding RNAs (DELncRNAs) related to the regulation of epithelial-mesenchymal transition (EMT) in hypospadias in mesenchymal stem cell-derived exos... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 16, 2024 Category: Genetics & Stem Cells Authors: Mengmeng Chang, Hongjie Gao, Yingying Li, Chen Ding, Zhiyi Lu, Ding Li, Fan Huang, Jiawei Chen and Fengyin Sun Tags: Research Source Type: research
A hypoxia –glycolysis–lactate-related gene signature for prognosis prediction in hepatocellular carcinoma
Liver cancer ranks sixth in incidence and third in mortality globally and hepatocellular carcinoma (HCC) accounts for 90% of it. Hypoxia, glycolysis, and lactate metabolism have been found to regulate the prog... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 16, 2024 Category: Genetics & Stem Cells Authors: Xiaodan Qin, Huiling Sun, Shangshang Hu, Yuqin Pan and Shukui Wang Tags: Research Source Type: research
Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms
Branchio-oto-renal syndrome (BOR, OMIM#113,650) is a rare autosomal dominant disorder that presents with a variety of symptoms, including hearing loss (sensorineural, conductive, or mixed), structural abnormal... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 16, 2024 Category: Genetics & Stem Cells Authors: Hui Zhang, Jian Gao, Hanjun Wang, Mengli Liu, Shuangshuang Lu, Hongen Xu, Wenxue Tang and Guoxi Zheng Tags: Research Source Type: research
Mutation landscape in Chinese nodal diffuse large B-cell lymphoma by targeted next generation sequencing and their relationship with clinicopathological characteristics
Diffuse large B-cell lymphoma (DLBCL), an aggressive and heterogenic malignant entity, is still a challenging clinical problem, since around one-third of patients are not cured with primary treatment. Next-gen... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 13, 2024 Category: Genetics & Stem Cells Authors: Bing Cao, Chenbo Sun, Rui Bi, Zebing Liu, Yijun Jia, Wenli Cui, Menghong Sun, Baohua Yu, Xiaoqiu Li and Xiaoyan Zhou Tags: Research Source Type: research
Long noncoding RNA UNC5B-AS1 suppresses cell proliferation by sponging miR-24-3p in glioblastoma multiforme
Glioblastoma multiforme (GBM) is the most common primary CNS tumor, characterized by high mortality and heterogeneity. However, the related lncRNA signatures and their target microRNA (miRNA) for GBM are still... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 9, 2024 Category: Genetics & Stem Cells Authors: Ying Song, Baodong Chen, Huili Jiao and Li Yi Tags: Research Source Type: research
GGT5 facilitates migration and invasion through the induction of epithelial –mesenchymal transformation in gastric cancer
Gamma-glutamyltransferase 5 (GGT5), one of the two members in the GGT family (GGT1 and GGT5), plays a crucial role in oxidative regulation, inflammation promotion, and drug metabolism. Particularly in the tumo... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 5, 2024 Category: Genetics & Stem Cells Authors: Zhuang Luo, Yong Chen, Bangquan Chen, Ziming Zhao, Rongfan Wu and Jun Ren Tags: Research Source Type: research
Comparative analysis of gene expression between mice and humans in acetaminophen-induced liver injury by integrating bioinformatics analysis
This study aimed to compare gene expres... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - March 28, 2024 Category: Genetics & Stem Cells Authors: Shanmin Zhao, Yan Feng, Jingyuan Zhang, Qianqian Zhang, Junyang Wang and Shufang Cui Tags: Research Source Type: research
Peripheral blood indicators and COVID-19: an observational and bidirectional Mendelian randomization study
Blood is critical for health, supporting key functions like immunity and oxygen transport. While studies have found links between common blood clinical indicators and COVID-19, they cannot provide causal infer... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - March 28, 2024 Category: Genetics & Stem Cells Authors: Zhenglin Chang, Suilin Wang, Kemin Liu, Runpei Lin, Changlian Liu, Jiale Zhang, Daqiang Wei, Yuxi Nie, Yuerong Chen, Jiawei He, Haiyang Li, Zhangkai J. Cheng and Baoqing Sun Tags: Research Source Type: research
Association of pharmacogenomic, clinical and behavioural factors with oral levothyroxine (LT-4) dose of hypothyroid patients in Sri Lanka: a matched case control study
Hypothyroidism is a common endocrine disorder that exerts a substantial influence on people all over the world. Levothyroxine (LT-4) is the drug of choice for the treatment of hypothyroidism and the starting o... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - March 27, 2024 Category: Genetics & Stem Cells Authors: S. S. Dalugodage, Gayan Bowatte, Charles Antonypillai, S. Rajapakse and T. M. I. U. K. Tennakoon Tags: Study Protocol Source Type: research
A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report
Dihydropyrimidine dehydrogenase (DPD), is the initial and rate-limiting enzyme in the catabolic pathway of pyrimidines. Deleterious variants in the DPYD gene cause DPD deficiency, a rare autosomal recessive disor... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - March 25, 2024 Category: Genetics & Stem Cells Authors: Anna Malekkou, Marios Tomazou, Gavriella Mavrikiou, Maria Dionysiou, Theodoros Georgiou, Ioannis Papaevripidou, Angelos Alexandrou, Carolina Sismani, Anthi Drousiotou, Olga Grafakou and Petros P. Petrou Tags: Research Source Type: research
First successful outcomes of pegvaliase (PALYNZIQ) in children
PKU is an autosomal recessive hereditary inborn error of metabolism caused by a lack of phenylalanine hydroxylase enzyme activity. Pegvaliase (PALYNZIQ ®) treatment has been approved to reduce blood Phe concent... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - March 21, 2024 Category: Genetics & Stem Cells Authors: Majid Alfadhel and Rayyan Albarakati Tags: Case Report Source Type: research
GPX8+ cancer-associated fibroblast, as a cancer-promoting factor in lung adenocarcinoma, is related to the immunosuppressive microenvironment
This study aimed to screen for CAF-s... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - March 21, 2024 Category: Genetics & Stem Cells Authors: Ying Bai, Tao Han, Yunjia Dong, Chao Liang, Lu Gao, Yafeng Liu, Jiawei Zhou, Jianqiang Guo, Deyong Ge, Jing Wu and Dong Hu Tags: Research Source Type: research
A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome
Treacher Collins syndrome (TCS; OMIM 154500) is a craniofacial developmental disorder. (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - March 18, 2024 Category: Genetics & Stem Cells Authors: Haojie Sun, Xinda Xu, Binjun Chen, Yanmei Wang, Jihan Lyu, Luo Guo, Yasheng Yuan and Dongdong Ren Tags: Research Source Type: research
