Obesity and head and neck cancer risk: a mendelian randomization study
This study aimed to perform a two-sample Mendelian randomization (MR) analysis to ass... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 24, 2023 Category: Genetics & Stem Cells Authors: Lin Gui, Xiaohui He, Le Tang, Jiarui Yao and Jinping Pi Tags: Research Source Type: research
A link between mitochondrial damage and the immune microenvironment of delayed onset muscle soreness
Delayed onset muscle soreness (DOMS) is a self-healing muscle pain disorder. Inflammatory pain is the main feature of DOMS. More and more researchers have realized that changes in mitochondrial morphology are ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 23, 2023 Category: Genetics & Stem Cells Authors: Zheng Li, Lina Peng, Lili Sun and Juncheng Si Tags: Research Source Type: research
Genetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study
1q21.1q21.2 microdeletions/microduplications are rare and incompletely penetrant genetic mutations, and only a few reports regarding their prenatal diagnosis are currently available. Here, we analyzed the ultr... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 23, 2023 Category: Genetics & Stem Cells Authors: Nan Guo, Huili Xue, Bin Liang, Hailong Huang, Meiying Cai and Liangpu Xu Tags: Research Source Type: research
Identification of basement membrane-related biomarkers associated with the diagnosis of osteoarthritis based on machine learning
Osteoarthritis is a very common clinical disease in middle-aged and elderly individuals, and with the advent of ageing, the incidence of this disease is gradually increasing. There are few studies on the role ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 23, 2023 Category: Genetics & Stem Cells Authors: Xiaojing Huang, Hongming Meng, Zeyu Shou, Jiahuan Yu, Kai Hu, Liangyan Chen, Han Zhou, Zhibiao Bai and Chun Chen Tags: Research Source Type: research
miRDM-rfGA: Genetic algorithm-based identification of a miRNA set for detecting type 2 diabetes
In this study, we identified the optimal combination of marker candidates for detecting T2DM using miRNA-Seq data from 95 samp... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 22, 2023 Category: Genetics & Stem Cells Authors: Aron Park and Seungyoon Nam Tags: Research Source Type: research
Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders
Genodermatoses are a broad group of disorders with specific or non-specific skin-based phenotypes, most of which are monogenic disorders. However, it ’s a great challenge to make a precise molecular diagnosis b... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 21, 2023 Category: Genetics & Stem Cells Authors: Zhu Xintong, Zhang Kexin, Wang Junwen, Wang Ziyi, Luo Na and Guo Hong Tags: Research Source Type: research
Clinical and genetic evaluation of children with short stature of unknown origin
Short stature is a common human trait. More severe and/or associated short stature is usually part of the presentation of a syndrome and may be a monogenic disease. The present study aimed to identify the gene... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 21, 2023 Category: Genetics & Stem Cells Authors: Qianqian Zhao, Yanying Li, Qian Shao, Chuanpeng Zhang, Shuang Kou, Wanling Yang, Mei Zhang and Bo Ban Tags: Research article Source Type: research
m6A genotypes and prognostic signature for assessing the prognosis of patients with acute myeloid leukemia
N6-methyladenosine (m6A) has been confirmed to function critically in acute myeloid leukemia (AML) progression. Hitherto, the subtyping and prognostic predictive significance of m6A-correlated genes in AML is ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 18, 2023 Category: Genetics & Stem Cells Authors: Caizhu Fu, Ruirui Kou, Jie Meng, Duanfeng Jiang, Ruilan Zhong and Min Dong Tags: Research Source Type: research
Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome
Alport syndrome (AS; OMIM#308,940) is a hereditary kidney disease that progresses over time and is distinguished by hearing loss and ocular irregularities. The syndrome has three subtypes, namely X-linked (XL;... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 18, 2023 Category: Genetics & Stem Cells Authors: Lei Liang, Haotian Wu, Zeyu Cai and Jianrong Zhao Tags: Research Source Type: research
CCNB1 is a novel prognostic biomarker and promotes proliferation, migration and invasion in Wilms tumor
Wilms tumour (WT) is a mixed type of embryonal tumour that usually occurs in early childhood. However, our knowledge of the pathogenesis or progression mechanism of WT is inadequate, and there is a scarcity of... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 17, 2023 Category: Genetics & Stem Cells Authors: Bin Xiang, Mei-Lin Chen, Zhi-Qiang Gao, Tao Mi, Qin-Lin Shi, Jun-Jun Dong, Xiao-Mao Tian, Feng Liu and Guang-Hui Wei Tags: Research Source Type: research
Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China
Rhizomelic limb shortening with dysmorphic features (RLSDF) has already been a disorder of the rare autosomal recessive skeletal dysplasia, just having a few reported cases. RLSDF is caused by protein kinase d... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 17, 2023 Category: Genetics & Stem Cells Authors: Lulu Yan, Juan Cao, Yuxin Zhang, Yingwen Liu, Jinghui Zou, Biying Lou, Danyan Zhuang and Haibo Li Tags: Research Source Type: research
ATP6V1F is a novel prognostic biomarker and potential immunotherapy target for hepatocellular carcinoma
Hepatocellular carcinoma (HCC) is one of the deadliest malignancies worldwide, with late detection, ineffective treatment and poor overall survival. Immunotherapy, including immune checkpoint inhibitor (ICI) t... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 16, 2023 Category: Genetics & Stem Cells Authors: Xinyao Hu, Dan Li, Hua Zhu, Tao Yu, Xiaoxing Xiong and Ximing Xu Tags: Research Source Type: research
Causal effects between atrial fibrillation and heart failure: evidence from a bidirectional Mendelian randomization study
In this study, we employed a bidirectional Mendelian r... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 14, 2023 Category: Genetics & Stem Cells Authors: Zhuxin Zhang, Le Li, Zhao Hu, Likun Zhou, Zhenhao Zhang, Yulong Xiong and Yan Yao Tags: Research Source Type: research
Brazilian XP-E siblings carrying a novel DDB2 variant developed early-onset melanoma: a case report
Xeroderma pigmentosum group E (XP-E) is one of the least common forms of XP, a rare syndrome where patients are prone to develop skin cancer in exposed sunlight areas. XP-E patients are generally not diagnosed... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 12, 2023 Category: Genetics & Stem Cells Authors: Ana Rafaela de Souza Timoteo, Isabel Cristina Pinheiro de Almeida, Andrey A Yurchenko, Sheila Ramos de Miranda Henriques, Paulo de Souza Segundo, Fatemeh Rajabi, Sergey Nikolaev and Tirzah Braz Petta Tags: Case report Source Type: research
Prenatal genetic diagnosis of disseminated infantile myofibromatosis: a case report and literature review
Infantile myofibromatosis (IM) is a rare disorder characterized by the formation of nodules in the skin, muscle, bone, and, more rarely, visceral organs. Very few cases are detected prenatally, and the final d... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 11, 2023 Category: Genetics & Stem Cells Authors: Yan L ü, Yulin Jiang, Huanwen Wu, Qingwei Qi, Xiya Zhou, Qi Guo, Na Hao, Juntao Liu and Hua Meng Tags: Case report Source Type: research
