Genetic association between interleukin-17 and susceptibility to rheumatoid arthritis
The pathogenesis of rheumatoid arthritis (RA) is an immune imbalance, in which various inflammatory immune cells and pro-inflammatory factors are involved. Interleukin-17 (IL-17), a potent pro-inflammatory cyt... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - November 6, 2023 Category: Genetics & Stem Cells Authors: Rong Zhao, Yi-wen Zhang, Jia-yuan Yao, Jun Qiao, Shan Song, Sheng-xiao Zhang, Cai-hong Wang and Xiao-feng Li Tags: Research Source Type: research
Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report
Perrault Syndrome (PRLTS) is a rare, autosomal recessive disorder that presents with bilateral sensorineural hearing loss in all patients and gonadal dysfunction in females. It has been linked to variants in CLPP (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - November 6, 2023 Category: Genetics & Stem Cells Authors: Hannah E. Munson, Lenika De Simone, Abigail Schwaede, Avanti Bhatia, Divakar S. Mithal, Nancy Young, Nancy Kuntz and Vamshi K. Rao Tags: Case report Source Type: research
RB1 screening of retinoblastoma patients in Sri Lanka using targeted next generation sequencing (NGS) and gene ratio analysis copy enumeration PCR (GRACE-PCR)
Retinoblastoma (RB) a tumour affecting those under 5 years, has a prevalence of 1 in 20,000, with around twenty new diagnoses per year in Sri Lanka. Unilateral and bilateral RB presents around 24 and 15 months... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - November 6, 2023 Category: Genetics & Stem Cells Authors: Nirosha Kugalingam, Deepthi De Silva, Hiranya Abeysekera, Sriyani Nanayakkara, Shamala Tirimanne, Dinali Ranaweera, Prashanth Suravajhala and Vishvanath Chandrasekharan Tags: Research Source Type: research
A randomized trial evaluating the association between related gene polymorphism and nausea and vomiting induced by cisplatin multi-day chemotherapy
We aim to investigate the correlation between gene polymorphisms and cisplatin chemotherapy-induced nausea and vomiting (CINV), which was prevented by olanzapine or aprepitant triple antiemetic regimen. (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - November 3, 2023 Category: Genetics & Stem Cells Authors: Yilan Jin, Feng Chen, Juan Zhao, Ying Jiang, Gaowa Jin, Zewei Zhang and Quanfu Li Tags: Research Source Type: research
Causal association of epigenetic aging and osteoporosis: a bidirectional Mendelian randomization study
The relationship between aging and osteoporosis is well established. However, the relationship between the body's physiological age, i.e. epigenetic age, and osteoporosis is not known. Our goal is to analyze t... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - November 2, 2023 Category: Genetics & Stem Cells Authors: Xinyu Liang, Wei Shi, Xinglong Zhang, Ran Pang, Kai Zhang, Qian Xu, Chunlei Xu, Xin Wan, Wenhao Cui, Dong Li, Zhaohui Jiang, Zhengxuan Liu, Hui Li, Huafeng Zhang and Zhijun Li Tags: Research Source Type: research
Effects of chromosomal translocation characteristics on fertilization and blastocyst development — a retrospective cohort study
To determine the effect of different translocation characteristics on fertilization rate and blastocyst development in chromosomal translocation patients. (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - November 1, 2023 Category: Genetics & Stem Cells Authors: Shanshan Wu, Jianrui Zhang, Yichun Guan, Bingnan Ren, Yuchao Zhang, Xinmi Liu, Kexin Wang, Mingmei Zhang and Zhen Li Tags: Research Source Type: research
Machine learning algorithm predicts fibrosis-related blood diagnosis markers of intervertebral disc degeneration
This study aimed to identify fibrosis-related diagnostic genes for patients with IDD. (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - November 1, 2023 Category: Genetics & Stem Cells Authors: Wei Zhao, Jinzheng Wei, Xinghua Ji, Erlong Jia, Jinhu Li and Jianzhong Huo Tags: Research Source Type: research
HArmonized single-cell RNA-seq Cell type Assisted Deconvolution (HASCAD)
Cell composition deconvolution (CCD) is a type of bioinformatic task to estimate the cell fractions from bulk gene expression profiles, such as RNA-seq. Many CCD models were developed to perform linear regress... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 31, 2023 Category: Genetics & Stem Cells Authors: Yen-Jung Chiu, Chung-En Ni and Yen-Hua Huang Tags: Research Source Type: research
Genome-wide neonatal epigenetic changes associated with maternal exposure to the COVID-19 pandemic
During gestation, stressors to the fetus, including viral exposure or maternal psychological distress, can fundamentally alter the neonatal epigenome, and may be associated with long-term impaired developmenta... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 30, 2023 Category: Genetics & Stem Cells Authors: Kristen Kocher, Surajit Bhattacharya, Nickie Niforatos-Andescavage, Miguel Almalvez, Diedtra Henderson, Eric Vilain, Catherine Limperopoulos and Emmanu èle C. Délot Tags: Research Source Type: research
A novel proteomic-based model for predicting colorectal cancer with Schistosoma japonicum co ‐infection by integrated bioinformatics analysis and machine learning
Schistosoma japonicum infection is an important public health problem and the S. japonicum infection is associated with a variety of diseases, including colorectal cancer. We collected the paraffin samples of CRC... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 30, 2023 Category: Genetics & Stem Cells Authors: Shan Li, Xuguang Sun, Ting Li, Yanqing Shi, Binjie Xu, Yuyong Deng and Sifan Wang Tags: Research Source Type: research
Genetic heterogeneity of cardiomyopathy and its correlation with patient care
Cardiomyopathy, which is a genetically and phenotypically heterogeneous pathological condition, is associated with increased morbidity and mortality. Genetic diagnosis of cardiomyopathy enables accurate phenot... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 30, 2023 Category: Genetics & Stem Cells Authors: Mi Jin Kim, Seulgi Cha, Jae Suk Baek, Jeong Jin Yu, Go Hun Seo, Minji Kang, Hyo-Sang Do, Sang Eun Lee and Beom Hee Lee Tags: Research Source Type: research
Phenotypic variability in two female siblings with oocyte maturation arrest due to a TUBB8 variant
Tubulin beta-8 (TUBB8) is expressed exclusively in the oocyte and early embryo, encoding a beta-tubulin polypeptide that participates in the assembly of microtubules. TUBB8 was first attributed to being responsib... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 30, 2023 Category: Genetics & Stem Cells Authors: Qian Dou, HongEn Xu, LiYing Ma, Li Tan and WenXue Tang Tags: Research Source Type: research
Genetic polymorphisms of GGT1 gene (rs8135987, rs5751901 and rs2017869) are associated with neoadjuvant chemotherapy efficacy and toxicities in breast cancer patients
In this study we aim to determine whet... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 27, 2023 Category: Genetics & Stem Cells Authors: Lu Sun, Ziping Wu, Yanping Lin, Shuguang Xu, Yumei Ye, Wenjin Yin, Liheng Zhou and Jingsong Lu Tags: Research Source Type: research
Construction and validation of a metabolism-associated gene signature for predicting the prognosis, immune landscape, and drug sensitivity in bladder cancer
Tumor Metabolism is strongly correlated with prognosis. Nevertheless, the prognostic and therapeutic value of metabolic-associated genes in BCa patients has not been fully elucidated. First, in this study, met... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 26, 2023 Category: Genetics & Stem Cells Authors: Chong Shen, Yuxin Bi, Wang Chai, Zhe Zhang, Shaobo Yang, Yuejiao Liu, Zhouliang Wu, Fei Peng, Zhenqian Fan and Hailong Hu Tags: Research Source Type: research
Inflammatory response-based prognostication and personalized therapy decisions in clear cell renal cell cancer to aid precision oncology
The impact of inflammatory response on tumor development and therapeutic response is of significant importance in clear cell renal cell carcinoma (ccRCC). The customization of specialized prognostication appro... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 26, 2023 Category: Genetics & Stem Cells Authors: Weimin Zhong, Huijing Chen, Jiayi Yang, Chaoqun Huang, Yao Lin and Jiyi Huang Tags: Research Source Type: research
