Comprehensive analysis of the immunogenic cell death-related signature for predicting prognosis and immunotherapy efficiency in patients with lung adenocarcinoma
Although immunotherapy has been considered as a potent strategy for lung adenocarcinoma (LUAD), only a small part of patients was served as potentially clinical benefiters. Immunogenic cell death (ICD), a type... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 8, 2023 Category: Genetics & Stem Cells Authors: Yingshu Cui, Yi Li, Shan Long, Yuanyuan Xu, Xinxin Liu, Zhijia Sun, Yuanyuan Sun, Jia Hu and Xiaosong Li Tags: Research Source Type: research
Causal association between major depressive disorder and coronary heart disease: a two-sample bidirectional mendelian randomization study
Major depressive disorder (MDD) is a highly heterogeneous mental illness and a major public health problem worldwide. A large number of observational studies have demonstrated a clear association between MDD a... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 8, 2023 Category: Genetics & Stem Cells Authors: Qianjie Xu, Chen Chen, Ruijia You, Linghao Ni, Siyu Chen and Bin Peng Tags: Research Source Type: research
A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD
The genotype characteristics and their associated clinical phenotypes in patients with aniridia were analyzed to explore pathogenic variants using whole-exome sequencing. (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 4, 2023 Category: Genetics & Stem Cells Authors: Qian Wang, Wen Bin Wei, Xiang Yu Shi and Wei Ning Rong Tags: Research Source Type: research
Integration of single-cell sequencing and bulk expression data reveals chemokine signaling pathway in proliferating cells is associated with the survival outcome of osteosarcoma
Osteosarcoma, as the most common primary bone malignancy, is urgent to be well-studied on the biomarkers and therapeutic targets to improve the five-year survival rate. Transcriptomic analysis using single-cel... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 3, 2023 Category: Genetics & Stem Cells Authors: Lin Yu, Sun Hongyu and Chen Yuxi Tags: Research Source Type: research
An insertion mutation of the MECP2 gene in severe neonatal encephalopathy and ocular and oropharyngeal dyskinesia: a case report
Pathogenic variation of the MECP2 gene presents mostly as Rett syndrome in females and is extremely rare in males. Most male patients with MECP2 gene mutation show MECP2 duplication syndrome. (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 3, 2023 Category: Genetics & Stem Cells Authors: Jianmin Liang, Cuijuan Xin, Meiying Xin, Guangliang Wang and Xuemei Wu Tags: Case Report Source Type: research
M7G methylated core genes (METTL1 and WDR4) and associated RNA risk signatures are associated with prognosis and immune escape in HCC
This study aimed to investigate the impact of the m7G methylation core genes (METTL1 and WDR4) and associated RNA ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 1, 2023 Category: Genetics & Stem Cells Authors: Rui Li, Xincheng Liu, Kaiyuan Deng and Xin Wang Tags: Research Source Type: research
Functional polymorphism in miR-208 is associated with increased risk for ischemic stroke
The miR-208 gene is one of the microRNAs now under active studies, and has been found to play significant roles in an array of cardiovascular diseases. Nevertheless, until now, no studies have examined the rel... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 31, 2023 Category: Genetics & Stem Cells Authors: Chao Liu, Yan-Ping Luo, Jie Chen, Yin-Hua Weng, Yan Lan and Hong-Bo Liu Tags: Research Source Type: research
Development and validation of a novel prognostic signature based on m6A/m5C/m1A-related genes in hepatocellular carcinoma
This study sought to examine the association between m6A/m5C/m1A-related genes and hepatocellular carcinoma (HCC). (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 31, 2023 Category: Genetics & Stem Cells Authors: Yu Xiao, Jinluan Li and Junxin Wu Tags: Research Source Type: research
ADNP is associated with immune infiltration and radiosensitivity in hepatocellular carcinoma for predicting the prognosis
Hepatocellular carcinoma (HCC) is one of the most lethal diseases due to its high faculty of invasiveness and metastasis. Activity-dependent neuroprotective protein (ADNP) has been regarded as an oncogene in b... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 31, 2023 Category: Genetics & Stem Cells Authors: Xuan Wang, Honghua Peng, Ganghua Zhang, Zeyuan Li, Zhangyan Du, Bin Peng and Peiguo Cao Tags: Research Source Type: research
Changes in expression levels of erythrocyte and immune-related genes are associated with high altitude polycythemia
As a chronic mountain sickness(CMS) with the highest incidence and the greatest harm, the pathogenesis of high altitude polycythemia (HAPC) is still not fully understood. (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 28, 2023 Category: Genetics & Stem Cells Authors: Siwei Feng, Gang Wei, Xuelin Yang, Zhiying Zhang, Jingfeng Qu, Donglan Wang, Tian Zhou, Ting Ni, Lijun Liu and Longli Kang Tags: Research Source Type: research
Generalisation of genomic findings and applications of polygenic risk scores
Polygenic Risk Scores (PRS) (also known as polygenic scores, genetic risk scores or polygenic indexes) capture genetic contributions of a multitude of markers that characterise complex traits. Although their l... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 28, 2023 Category: Genetics & Stem Cells Authors: Manuel Corpas and Segun Fatumo Tags: Editorial Source Type: research
Association of A1AT genetic polymorphism and NSCLC: a case- control study in Egyptian population
Lung cancer mortality is higher than other forms of cancer. Genetic tendencies in cancer patients have long been known. Given the link between A1ATD and numerous lung disorders, it is worth investigating if th... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 27, 2023 Category: Genetics & Stem Cells Authors: Aliaa N. El-Dawa, Afaf M. ElSaid, Sherif Refaat and Omali Y. El-khawaga Tags: Research Source Type: research
FISH-negative BCR::ABL1-positive e19a2 chronic myeloid leukaemia: the most cryptic of insertions
Chronic myeloid leukaemia (CML) is one of the most well characterised human malignancies. Most patients have a cytogenetically visible translocation between chromosomes 9 and 22 which generates the pathognomonic (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 26, 2023 Category: Genetics & Stem Cells Authors: Philippa C. May, Alistair G. Reid, Mark E. Robinson, Jamshid S. Khorashad, Dragana Milojkovic, Simone Claudiani, Fenella Willis, Jane F. Apperley and Andrew J. Innes Tags: Case report Source Type: research
A female of progressive familial intrahepatic cholestasis type 3 caused by heterozygous mutations of ABCB4 gene and her cirrhosis improved after treatment of ursodeoxycholic acid: a case report
Progressive familial intrahepatic cholestasis (PFIC) is a group of rapidly progressive autosomal recessive disorders characterized by intrahepatic cholestasis. PFIC-3 is caused by mutations in the ATP-binding ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 25, 2023 Category: Genetics & Stem Cells Authors: Fei Qiao, Feng Ren, Weiting Lu, Haoran Yang, Guiling Mo, Shuangshuang Wang, Lina Liu and Xiangtao Xu Tags: Case report Source Type: research
On the challenges of predicting treatment response in Hodgkin ’s Lymphoma using transcriptomic data
Despite the advancements in multiagent chemotherapy in the past years, up to 10% of Hodgkin ’s Lymphoma (HL) cases are refractory to treatment and, after remission, patients experience an elevated risk of death... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 20, 2023 Category: Genetics & Stem Cells Authors: Andr é Patrício, Rafael S. Costa and Rui Henriques Tags: Research Source Type: research
