BMC Medical Genomics
Papers 1,597
1 page of 160 pages (1,597 results)
#1Ching-Yuan Wang (NCKU: National Cheng Kung University)
#2Yen An Tang (NCKU: National Cheng Kung University)H-Index: 16
Last. H. Sunny Sun (NCKU: National Cheng Kung University)H-Index: 29
view all 7 authors...
BACKGROUND Skeletal dysplasia (SD) is one of the most common inherited neonatal disorders worldwide, where the recurrent pathogenic mutations in the FGFR2, FGFR3, COL1A1, COL1A2 and COL2A1 genes are frequently reported in both non-lethal and lethal SD. The traditional prenatal diagnosis of SD using ultrasonography suffers from lower accuracy and performed at latter gestational stage. Therefore, it remains in desperate need of precise and accurate prenatal diagnosis of SD in early pregnancy. With...
#1Van Tinh Nguyen (HaUI: Hanoi University of Industry)H-Index: 1
#2Thi Tu Kien Le (HNUE: Hanoi National University of Education)H-Index: 1
Last. Dang Hung Tran (HNUE: Hanoi National University of Education)H-Index: 8
view all 4 authors...
Background null Developing efficient and successful computational methods to infer potential miRNA-disease associations is urgently needed and is attracting many computer scientists in recent years. The reason is that miRNAs are involved in many important biological processes and it is tremendously expensive and time-consuming to do biological experiments to verify miRNA-disease associations. null Methods null In this paper, we proposed a new method to infer miRNA-disease associations using coll...
#1Kumuda Irgam (OU: Osmania University)H-Index: 1
Last. Battini Mohan Reddy (ISI: Indian Statistical Institute)H-Index: 2
view all 5 authors...
Background null The genetic association studies of type 2 diabetes mellitus (T2DM) hitherto undertaken among the Indian populations are grossly inadequate representation of the ethnic and geographic heterogeneity of the country. In view of this and due to the inconsistent nature of the results of genetic association studies, it would be prudent to undertake large scale studies in different regions of India considering wide spectrum of variants from the relevant pathophysiological pathways. Given...
#1Qiang Qu (NMU: Nanjing Medical University)H-Index: 3
#2Jin-Yu Sun (NMU: Nanjing Medical University)H-Index: 2
Last. Ru-Xing Wang (NMU: Nanjing Medical University)H-Index: 5
view all 7 authors...
Co-expression network may contribute to better understanding molecular interaction patterns underlying cellular processes. To explore microRNAs (miRNAs) expression patterns correlated with AF, we performed weighted gene co-expression network analysis (WGCNA) based on the dataset GSE28954. Thereafter, we predicted target genes using experimentally verified databases (ENOCRI, miRTarBase, and Tarbase), and overlapped genes with differentially expressed genes (DEGs) from GSE79768 were identified as ...
#2Qiongling Peng (Boston Children's Hospital)
Last. Liya Ma (Boston Children's Hospital)
view all 5 authors...
Background null Coffin-Siris syndrome (CSS) is a multiple malformation syndrome characterized by intellectual disability associated with coarse facial features, hirsutism, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. CSS represents a small group of intellectual disability, and could be caused by at least twelve genes. The genetic background is quite heterogenous, making it difficult for clinicians and genetic consultors to pinpoint the exact disease types. null Met...
#1Masahiro Yoshikawa (Nihon University)H-Index: 9
#2Kensuke Asaba (UT: University of Tokyo)H-Index: 8
Last. Tomohiro Nakayama (Nihon University)H-Index: 37
view all 3 authors...
BACKGROUND As the number of COVID-19 deaths continues to rise worldwide, the identification of risk factors for the disease is an urgent issue, and it remains controversial whether atherogenic lipid-related traits including serum apolipoprotein B, low-density lipoprotein (LDL)-cholesterol, and triglyceride levels, are risk factors. The aim of this study was to estimate causal effects of lipid-related traits on COVID-19 risk in the European population using a two-sample Mendelian randomization (M...
#1Luyue Wang (Shihezi University)H-Index: 1
#2Fang Wang (Shihezi University)H-Index: 1
Last. Zemin Pan (Shihezi University)H-Index: 7
view all 9 authors...
BACKGROUND Xinjiang is one of the regions with a high incidence of cervical cancer, and the genetic variation of human papillomavirus may increase its ability to infect the human body and enhance virus-mediated immune escape ability. METHODS Sanger sequencing of the HPV16 genome from 165 samples positive for HPV16 infection and phylogenetic analysis of the E1 and E2 genes revealed the gene polymorphism of HPV16 in Xinjiang. RESULTS The results showed that there were 109 samples with variations i...
#1Tao Wang (Xuzhou Medical College)H-Index: 5
#2Jin-Fang Song (Xuzhou Medical College)
Last. Qian Lu (Xuzhou Medical College)H-Index: 19
view all 6 authors...
BACKGROUND Genetic polymorphisms in the PPARD and NOS1AP is associated with type 2 diabetes mellitus (T2DM); however, there is no evidence about its impact on the therapeutic efficacy of nateglinide. This study was designed to investigate a potential association of PPARD rs2016520 (T/C) and NOS1AP rs12742393 (A/C) polymorphisms with efficacy of nateglinide in newly diagnosed Chinese patients with type 2 diabetes mellitus (T2DM). METHODS Sixty patients with newly diagnosed T2DM were enrolled to i...
#1Ihsan Ullah (UVAS: University of Veterinary and Animal Sciences)H-Index: 2
#1Ihsan Ullah (UVAS: University of Veterinary and Animal Sciences)H-Index: 1
Last. Friedhelm Hildebrandt (Boston Children's Hospital)H-Index: 102
view all 12 authors...
Background null Nephrolithiasis (NL) affects 1 in 11 individuals worldwide and causes significant morbidity and cost. Common variants in the calcium sensing receptor gene (CaSR) have been associated with NL. Rare inactivating CaSR variants classically cause hyperparathyroidism, hypercalcemia and hypocalciuria. However, NL and familial hypercalciuria have been paradoxically associated with select inactivating CaSR variants in three kindreds from Europe and Australia. null Methods null To discover...
#1Yasaman Aali (TUMS: Tehran University of Medical Sciences)
#2Farideh Shiraseb (TUMS: Tehran University of Medical Sciences)H-Index: 4
Last. Khadijeh Mirzaei (TUMS: Tehran University of Medical Sciences)H-Index: 16
view all 5 authors...
BACKGROUND It has been reported that dietary fats and genetic factors in individuals are associated with the pattern of fat distribution. This study aimed to evaluate the interaction between dietary fats intake and Caveolin1 (CAV-1) rs 3807s992 polymorphism with fat distribution in overweight and obese women. METHODS A total of 221 participants were included in the current cross-sectional study. Body composition, biochemical parameters were evaluated by body composition analyzer and Pars Azmoon ...
Top fields of study
This website uses cookies.
We use cookies to improve your online experience. By continuing to use our website we assume you agree to the placement of these cookies.
To learn more, you can find in our Privacy Policy.