CC chemokine receptors are prognostic indicators of gastric cancer and are associated with immune infiltration
CC chemokine receptors are responsible for regulating the tumor microenvironment (TME) and participating in carcinogenesis and tumor advancement. However, no functional study has investigated CC chemokine rece... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - January 2, 2024 Category: Genetics & Stem Cells Authors: Xinghe Liao, Yong Yang, Lihuan Wang, Zhiyuan Kong and Weiping Li Tags: Research Source Type: research

Identification of a novel lymphangiogenesis signature associated with immune cell infiltration in colorectal cancer based on bioinformatics analysis
Lymphangiogenesis plays an important role in tumor progression and is significantly associated with tumor immune infiltration. However, the role and mechanisms of lymphangiogenesis in colorectal cancer (CRC) a... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - January 2, 2024 Category: Genetics & Stem Cells Authors: Hong Liu, Huiwen Shi and Yinggang Sun Tags: Research Source Type: research

A brief comparison of polygenic risk scores and Mendelian randomisation
Mendelian randomisation and polygenic risk score analysis have become increasingly popular in the last decade due to the advent of large-scale genome-wide association studies. Each approach has valuable applic... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - January 2, 2024 Category: Genetics & Stem Cells Authors: Victoria Garfield and Emma L. Anderson Tags: Comment Source Type: research

Association of MBL2 gene polymorphisms and MBL levels with dilated cardiomyopathy in a Chinese Han population
This study aimed to investigate the potential association between MB... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - January 2, 2024 Category: Genetics & Stem Cells Authors: Yujie Mao, Hong Wei, Yugang Gong, Lei Peng and Yu Chen Tags: Research Source Type: research

Mutations in PGRN gene associated with the risk of psoriasis in Pakistan: a case control study
Psoriasis is a chronic, autoimmune, papulosquamous skin disorder, characterized by the formation of drop-like papules and silvery-white plaques surrounded by reddened or inflamed skin, existing predominantly o... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - December 21, 2023 Category: Genetics & Stem Cells Authors: Saima Saleem, Zunaira Imran, Azam Samdani, Bahram Khoso, Sitwat Zehra and Abid Azhar Tags: Research Source Type: research

Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy
Dilated cardiomyopathy (DCM) is a major cause of sudden cardiac death and heart failure. Up to 50% of all DCM cases have a genetic background, with variants in over 250 genes reported in association with DCM. ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - December 21, 2023 Category: Genetics & Stem Cells Authors: Serwa Ghasemi, Mohammad Mahdavi, Majid Maleki, Iman Salahshourifar and Samira Kalayinia Tags: Research Source Type: research

Comparing variants related to chronic diseases from genome-wide association study (GWAS) and the cancer genome atlas (TCGA)
Several genome-wide association studies (GWAS) have been performed to identify variants related to chronic diseases. Somatic variants in cancer tissues are associated with cancer development and prognosis. Exp... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - December 19, 2023 Category: Genetics & Stem Cells Authors: Soohyun Jeon, Chaewon Park, Jineui Kim, Jung Hoon Lee, Sung-yune Joe, Young Kyung Ko and Jeong-An Gim Tags: Research Source Type: research

Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria
Cystinuria is an autosomal recessive disorder characterized by a cystine transport deficiency in the renal tubules due to mutations in two genes: SLC3A1 and SLC7A9. Cystinuria can be classified into three forms b... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - December 19, 2023 Category: Genetics & Stem Cells Authors: Danhua Liu, Yongli Zhao, Xia Xue, Xinyue Hou, Hongen Xu, Xinghua Zhao, Yongan Tian, Wenxue Tang, Jiancheng Guo and Changbao Xu Tags: Research Source Type: research

A novel de novo CLTC variant altering RNA splicing causes fetal developmental abnormalities
About 31 individuals with CLTC variants have been reported worldwide, and all reported individuals have motor and mental retardation. CLTC is known to lead to intellectual developmental disorder, autosomal domina... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - December 18, 2023 Category: Genetics & Stem Cells Authors: Chen Cheng, Fan Yang, Sheng Zhao and Xinlin Chen Tags: Research Source Type: research

Construction of 11 metabolic-related lncRNAs to predict the prognosis in lung adenocarcinoma
To explore the metabolism-related lncRNAs in the tumorigenesis of lung adenocarcinoma. (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - December 18, 2023 Category: Genetics & Stem Cells Authors: Wei Jiang, Zhanyu Xu, Liuliu Huang, Fanglu Qin, Liqiang Yuan, Yu Sun, Junqi Qin, Kun Deng, Tiaozhan Zheng, Xiaomao Long and Shikang Li Tags: Research Source Type: research

An FGFR2 mutation as the potential cause of a new phenotype including early-onset osteoporosis and bone fractures: a case report
Osteoporosis is a systemic, multifactorial disorder of bone mineralization. Many factors contributing to the development of osteoporosis have been identified so far, including gender, age, nutrition, lifestyle... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - December 14, 2023 Category: Genetics & Stem Cells Authors: Ilya S Dantsev, Mariia A Parfenenko, Gulnara M Radzhabova and Ekaterina A Nikolaeva Tags: Case Report Source Type: research

Genetic study of the causal effect of lipid profiles on insomnia risk: a Mendelian randomization trial
In response to the controversy surrounding observational studies of the association between lipid profiles and the risk of insomnia, the aim of this study was to analyze lipid profiles, including triglycerides... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - December 12, 2023 Category: Genetics & Stem Cells Authors: Quancai Gong and Canshou Guo Tags: Research Source Type: research

Association of lncRNA THRIL, HOTAIR genes variations and expression levels with pulmonary tuberculosis
This study aims to investigate the involvement of lncRNA THRIL and HOTAIR gene single nucleotide polymorphisms... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - December 12, 2023 Category: Genetics & Stem Cells Authors: Li-Jun Wang, Rui Li, Tian-Ping Zhang and Hong-Miao Li Tags: Research Source Type: research

Unveiling the role of miR-137-3p/miR-296-5p/SERPINA3 signaling in colorectal cancer progression: integrative analysis of gene expression profiles and in vitro studies
Colorectal cancer (CRC) is a prevalent malignancy worldwide, with increasing incidence and mortality rates. Although treatment options have improved, CRC remains a leading cause of death due to metastasis. Ear... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - December 12, 2023 Category: Genetics & Stem Cells Authors: Huimin Liu, Xingxing Wu, Dandan Wang, Quanxi Li, Xin Zhang and Liang Xu Tags: Research Source Type: research

BMC3PM: bioinformatics multidrug combination protocol for personalized precision medicine and its application in cancer treatment
In recent years, drug screening has been one of the most significant challenges in the field of personalized medicine, particularly in cancer treatment. However, several new platforms have been introduced to a... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - December 12, 2023 Category: Genetics & Stem Cells Authors: Majid Mokhtari, Samane Khoshbakht, Mohammad Esmaeil Akbari and Sayyed Sajjad Moravveji Tags: Research Source Type: research