A de novo heterozygous variant in ACOX1 gene cause Mitchell syndrome: the first case in China and literature review
Mitchell syndrome (MITCH) is a rare autosomal dominant hereditary disorder, characterized by episodic demyelination, sensorimotor polyneuropathy and hearing loss. MITCH is caused by heterozygous mutation in th... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 3, 2023 Category: Genetics & Stem Cells Authors: Mengxiao Shen, Qian Chen, Yanyan Gao, Hongyu Yan, Shuo Feng, Xinna Ji and Xue Zhang Tags: Case report Source Type: research
Identification of a novel compound heterozygous mutation and a homozygous mutation of SLURP1 in Chinese families with Mal de Meleda
Mal de Meleda is an autosomal recessive palmoplantar keratoderma, with SLURP1 identified as the pathogenic gene responsible. Although over 20 mutations in SLURP1 have been reported, only the mutation c.256G > A (... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 1, 2023 Category: Genetics & Stem Cells Authors: Tian Wang, Zhuangli Tang, Tong Xiao, Junru Ren, Shuyao He, Yan Liu, Shengxiang Xiao and Xiaopeng Wang Tags: Research Source Type: research
Genomic and transcriptional characterization of early esophageal squamous cell carcinoma
Esophageal squamous cell carcinoma (ESCC) is a highly heterogeneous cancer that lacks comprehensive understanding and effective treatment. Although multi-omics study has revealed features and underlying driver... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 1, 2023 Category: Genetics & Stem Cells Authors: Jingjing Zhao, Xiya Jia, Qiaojuan Li, Hena Zhang, Jianjun Wang, Shenglin Huang, Zhixiang Hu and Caiping Li Tags: Research Source Type: research
Associations between polygenic risk score and covid-19 susceptibility and severity across ethnic groups: UK Biobank analysis
COVID-19 manifests with huge heterogeneity in susceptibility and severity outcomes. UK Black Asian and Minority Ethnic (BAME) groups have demonstrated disproportionate burdens. Some variability remains unexpla... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - June 30, 2023 Category: Genetics & Stem Cells Authors: Raabia Farooqi, Jaspal S. Kooner and Weihua Zhang Tags: Research Source Type: research
Exploring an immune cells-related molecule in STEMI by bioinformatics analysis
ST-elevated myocardial infarction (STEMI) is the leading cause of mortality worldwide. The mortality rate of heart attacks has decreased due to various preventive factors and the development of early diagnosti... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - June 30, 2023 Category: Genetics & Stem Cells Authors: Min Zhang, Jiaxing Li, Cuncun Hua, Jiayin Niu, Pengfei Liu and Guangzhen Zhong Tags: Research Source Type: research
Promoter hypermethylation and comprehensive regulation of ncRNA lead to the down-regulation of ZNF880, providing a new insight for the therapeutics and research of colorectal cancer
The human genome encodes more than 350 kinds of Kr üppel-associated box (KRAB) domain-containing zinc-finger proteins (KZFPs), KRAB-type ZNF transcription factor family (KZNF) plays a vital role in gene regulat... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - June 27, 2023 Category: Genetics & Stem Cells Authors: Xiangqian Dong, Yinghui Zhang, Yang Sun, Qiong Nan, Maojuan Li, Lanqing Ma, Lei Zhang, Juan Luo, Yating Qi and Yinglei Miao Tags: Research Source Type: research
Identification of molecular subgroups in osteomyelitis induced by staphylococcus aureus infection through gene expression profiles
Staphylococcus aureus (S. aureus) infection-induced osteomyelitis (OM) is an inflammatory bone disease accompanied by persistent bone destruction, and the treatment is challenging because of its tendency to recur... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - June 27, 2023 Category: Genetics & Stem Cells Authors: Xiangwen Shi, Haonan Ni, Linmeng Tang, Mingjun Li, Yipeng Wu and Yongqing Xu Tags: Research Source Type: research
A novel variant of the SOX10 gene associated with Waardenburg syndrome type IV
Waardenburg syndrome (WS) is a rare genetic disorder characterized by varying degrees of sensorineural hearing loss and accumulated pigmentation in the skin, hair and iris. The syndrome is classified into four... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - June 26, 2023 Category: Genetics & Stem Cells Authors: Yanan Wang, Yuqiong Chai, Pai Zhang and Weiwei Zang Tags: Case Report Source Type: research
Clinical and genetic analysis of a case of late onset carbamoyl phosphate synthase I deficiency caused by CPS1 mutation and literature review
Carbamoyl phosphate synthetase I defect (CPS1D) is a rare disease with clinical case reports mainly in early neonates or adults, with few reports of first onset in late neonatal to childhood. We studied the cl... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - June 26, 2023 Category: Genetics & Stem Cells Authors: Shangyu Wang, Jinglin Chen, Xiaoqi Zhu, Tingting Huang, Haifeng Xu, Guohuan Ying, Hao Qian, Wenxin Lin, Yiehen Tung, Kaleem Ullah Khan, Hu Guo, Guo Zheng, Haiying Lu and Gang Zhang Tags: Case report Source Type: research
Intronic position +9 and −9 are potentially splicing sites boundary from intronic variants analysis of whole exome sequencing data
Whole exome sequencing (WES) can also detect some intronic variants, which may affect splicing and gene expression, but how to use these intronic variants, and the characteristics about them has not been repor... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - June 26, 2023 Category: Genetics & Stem Cells Authors: Li Zhang, Minna Shen, Xianhong Shu, Jingmin Zhou, Jing Ding, Chunjiu Zhong, Baishen Pan, Beili Wang, Chunyan Zhang and Wei Guo Tags: Research Source Type: research
Major depression disorder may causally associate with the increased atrial fibrillation risk: evidence from two-sample mendelian randomization analyses
Observational studies have revealed a link between major depressive disorder (MDD) and a higher chance of developing atrial fibrillation (AF). It is still uncertain whether or not this correlation indicates a ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - June 23, 2023 Category: Genetics & Stem Cells Authors: Lei Wang and Chunhua Ding Tags: Research Source Type: research
A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia
Bi-allelic variants in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene have been involved in early-onset encephalopathies classified as pontocerebellar hypoplasia (PCH) type 6 and in epileptic ence... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - June 21, 2023 Category: Genetics & Stem Cells Authors: Romain Nicolle, Nami Altin, Karine Siquier-Pernet, Sherlina Salignac, Pierre Blanc, Arnold Munnich, Christine Bole-Feysot, Val érie Malan, Barthélémy Caron, Patrick Nitschké, Isabelle Desguerre, Nathalie Boddaert, Marlène Rio, Antonio Rausell and Vin Tags: Research Source Type: research
Proteomic analysis to identification of hypoxia related markers in spinal tuberculosis: a study based on weighted gene co-expression network analysis and machine learning
This article aims at exploring the role of hypoxia-related genes and immune cells in spinal tuberculosis and tuberculosis involving other organs. (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - June 20, 2023 Category: Genetics & Stem Cells Authors: Shaofeng Wu, Tuo Liang, Jie Jiang, Jichong Zhu, Tianyou Chen, Chenxing Zhou, Shengsheng Huang, Yuanlin Yao, Hao Guo, Zhen Ye, Liyi Chen, Wuhua Chen, Binguang Fan, Jiahui Qin, Lu Liu, Siling Wu & hellip; Tags: Research Source Type: research
A novel extrachromosomal circular DNA related genes signature for overall survival prediction in patients with ovarian cancer
Ovarian cancer (OV) has a high mortality rate all over the world, and extrachromosomal circular DNA (eccDNA) plays a key role in carcinogenesis. We wish to study more about the molecular structure of eccDNA in... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - June 19, 2023 Category: Genetics & Stem Cells Authors: Ying Zhang, Kexian Dong, Xueyuan Jia, Shuomeng Du, Dong Wang, Liqiang Wang, Han Qu, Shihao Zhu, Yang Wang, Zhao Wang, Shuopeng Zhang, Wenjing Sun and Songbin Fu Tags: Research Source Type: research
Evidence for causal effects of polycystic ovary syndrome on oxidative stress: a two-sample mendelian randomisation study
Polycystic ovary syndrome (PCOS) is often accompanied by increased oxidative stress levels; however, it is still unclear whether PCOS itself is causally related to oxidative stress (OS), whether OS can increas... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - June 19, 2023 Category: Genetics & Stem Cells Authors: Pu Yifu Tags: Research Source Type: research
