An alpha-helix variant p.Arg156Pro in LMNA as a cause of hereditary dilated cardiomyopathy: genetics and bioinfomatics exploration
LMNA gene encodes lamin A/C protein which participates in the construction of nuclear lamina, the mutations of LMNA result in a wide variety of diseases known as laminopathies. LMNA-related dilated cardiomyopathy... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 2, 2023 Category: Genetics & Stem Cells Authors: Lei Chang, Rong Huang, Jianzhou Chen, Guannan Li, Guangfei Shi, Biao Xu and Lian Wang Tags: Research Source Type: research
A macrophage related signature for predicting prognosis and drug sensitivity in ovarian cancer based on integrative machine learning
Ovarian cancer ranks the leading cause of gynecologic cancer-related death in the United States and the fifth most common cause of cancer-related mortality among American women. Increasing evidences have highl... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 2, 2023 Category: Genetics & Stem Cells Authors: Bo Zhao and Lipeng Pei Tags: Research Source Type: research
Establishment and validation of an immune infiltration predictive model for ovarian cancer
The most prevalent mutation in ovarian cancer is the TP53 mutation, which impacts the development and prognosis of the disease. We looked at how the TP53 mutation associates the immunophenotype of ovarian canc... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - September 28, 2023 Category: Genetics & Stem Cells Authors: Zhenxia Song, Jingwen Zhang, Yue Sun, Zhongmin Jiang and Xiaoning Liu Tags: Research Source Type: research
Serum metabolite profiling reveals metabolic characteristics of sepsis patients using LC/MS-based metabolic profiles: a cross-sectional study
The objective of this study is to identify potentia... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - September 26, 2023 Category: Genetics & Stem Cells Authors: Jinliang Peng, Chongrong Qiu, Jun Zhang and Xiaoliu Xiao Tags: Research Source Type: research
Does inflammatory bowel disease promote kidney diseases: a mendelian randomization study with populations of European ancestry
This study aimed to investigate a causal relationship between IBD and multiple kidney diseases using two-sample Mendelian randomization (MR) analyses. (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - September 26, 2023 Category: Genetics & Stem Cells Authors: Xingji Lian, Yiqin Wang, Shuyi Wang, Xiaohui Peng, Yanhui Wang, Yuyu Huang and Wei Chen Tags: Research Source Type: research
Novel homozygous frameshift variant in the ATCAY gene in an Iranian patient with Cayman cerebellar ataxia; expanding the neuroimaging and clinical features: a case report
Pathogenic variants in the ATCAY gene are associated with a rare autosomal recessive disorder called Cayman cerebellar ataxia. Affected individuals display psychomotor retardation, cerebellar dysfunction, nystagm... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - September 26, 2023 Category: Genetics & Stem Cells Authors: Elham Salehi Siavashani, Mahmoud Reza Ashrafi, Homa Ghabeli, Morteza Heidari and Masoud Garshasbi Tags: Case report Source Type: research
Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families
To report novel pathogenic variants of X-linked genes in five Chinese families with early-onset high myopia (eoHM) by using whole-exome sequencing and analyzing the phenotypic features. (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - September 25, 2023 Category: Genetics & Stem Cells Authors: Feiyin Zi, Zhen Li, Wanyu Cheng, Xiaoyu Huang, Xunlun Sheng and Weining Rong Tags: Research Source Type: research
Novel variants identified in five Chinese families with Joubert Syndrome: a case report
Joubert syndrome (JS) is a group of rare ciliopathies, mainly characterized by cerebellar dysplasia representing the “molar tooth sign (MTS)” on neuroimaging, hypotonia, and developmental delay. Having a compl... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - September 21, 2023 Category: Genetics & Stem Cells Authors: Liwei Fang, Lulu Wang, Li Yang, Xiaoyan Xu, Shanai Pei and De Wu Tags: Case Report Source Type: research
Identification of the expression patterns and potential prognostic role of m6A-RNA methylation regulators in Wilms Tumor
To explore the potential role of m6A methylation modification in Wilms Tumor (WT) by m6A-RNA Methylation (m6A) regulators. (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - September 21, 2023 Category: Genetics & Stem Cells Authors: Changlin Jia, Hongjie Gao, Wenyue Ma, Xiaoya Liu, Mengmeng Chang and Fengyin Sun Tags: Research Source Type: research
COL5A2 is a prognostic-related biomarker and correlated with immune infiltrates in gastric cancer based on transcriptomics and single-cell RNA sequencing
There is still a therapeutic challenge in treating gastric cancer (GC) due to its high incidence and poor prognosis. Collagen type V alpha 2 (COL5A2) is increased in various cancers, yet it remains unclear how... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - September 18, 2023 Category: Genetics & Stem Cells Authors: Meiru Chen, Xinying Zhu, Lixian Zhang and Dongqiang Zhao Tags: Research Source Type: research
Meta-analysis of integrated ChIP-seq and transcriptome data revealed genomic regions affected by estrogen receptor alpha in breast cancer
The largest group of patients with breast cancer are estrogen receptor-positive (ER+) type. The estrogen receptor acts as a transcription factor and triggers cell proliferation and differentiation. Hence, investi... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - September 15, 2023 Category: Genetics & Stem Cells Authors: Zeynab Piryaei, Zahra Salehi, Esmaeil Ebrahimie, Mansour Ebrahimi and Kaveh Kavousi Tags: Research Source Type: research
Association of FTO gene variant rs9939609 with polycystic ovary syndrome from Gujarat, India
Polycystic ovary syndrome is a multifactorial endocrine disorder impacting women of reproductive age. Variations within the FTO gene have been linked to both obesity and type 2 diabetes mellitus. Given that PCOS ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - September 14, 2023 Category: Genetics & Stem Cells Authors: Hiral Chaudhary, Jalpa Patel, Nayan K. Jain, Sonal Panchal, Naresh Laddha and Rushikesh Joshi Tags: Research Source Type: research
High-throughput sequencing reveals Jatrorrhizine inhibits colorectal cancer growth by ferroptosis-related genes
Colorectal cancer is a malignant tumor that poses a serious threat to human health. The main objective of this study is to investigate the mechanism by which Jatrorrhizine (JAT), a root extract from Stephania Epi... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - September 14, 2023 Category: Genetics & Stem Cells Authors: Lingyu Huang, Yu Sha, Wenken Liang, Chune Mo, Chunhong Li, Yecheng Deng, Weiwei Gong, Xianliang Hou and Minglin Ou Tags: Research Source Type: research
Uncovering the ceRNA network and DNA methylation associated with gene expression in nasopharyngeal carcinoma
This study aimed to uncover abnormally expressed genes regulated by competitive endogenous RNA (ceRNA) and DNA methylation nasopharyngeal carcinoma and to validate the role of lncRNAs in the ceRNA network on n... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - September 14, 2023 Category: Genetics & Stem Cells Authors: Ting Zhang, Lu Pei, Wen-Li Qiu, Yu-xia Wei, Bi-yun Liao and Feng-lian Yang Tags: Research Source Type: research
Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia
Hereditary hemolytic anemia (HHA) refers to a heterogeneous group of genetic disorders that share one common feature: destruction of circulating red blood cells (RBCs). The destruction of RBCs may be due to me... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - September 11, 2023 Category: Genetics & Stem Cells Authors: Yu Jeong Choi, Hongkyung Kim, Won Kee Ahn, Seung-Tae Lee, Jung Woo Han, Jong Rak Choi, Chuhl Joo Lyu, Seungmin Hahn and Saeam Shin Tags: Research Source Type: research
