Published in BMC Medical Genomics
Background Sickle cell disease (SCD) is a hemoglobin disorders that concern 300,000 newborns each year around the world. There are hemoglobin haplotypes that affect SCD clinic expression. Methods Our goal was to identify the hemoglobin’s haplotypes among individuals with mild malaria independently of SCD status in Côte d’Ivoire. To determine these ...
Published in BMC medical genomics
Acute lymphoblastic leukemia (ALL) is a type of heterogeneous hematopoietic malignancy that accounts for approximately 20% of adult ALL. Although ALL complete remission (CR) rate has increased to 85-90% after induction chemotherapy, 40-50% of patients eventually relapsed. Therefore, it is necessary to improve the outcomes of ALL via accurate diagno...
Published in BMC medical genomics
Gastric carcinoma is the most common malignant tumour of the human digestive system worldwide. CD44 serves as a marker for several tumour stem cells, including gastric cancer. However, the prognostic value of CD44 and its correlation with immune infiltration in gastric cancer remain unclear. The relative expression level of CD44 RNA in gastric canc...
Published in BMC medical genomics
To date, only twenty-one cases diagnosed postnatally with mosaic trisomy 12 have been reported. The most frequent phenotypic manifestations are developmental delay, dysmorphic facial features, congenital heart defects, digital alterations, and pigmentary disorders. In the present report, detailed clinical and genetic profiles of three unrelated new...
Published in BMC medical genomics
Increasing evidence has suggested an association between carotid atherosclerosis (CAS) and periodontitis (PD); however, the mechanisms have not been fully understood. This study aims to investigate the shared genes and molecular mechanisms underlying the co-pathogenesis of CAS and PD. Gene Expression Omnibus (GEO) datasets GSE100927 and GSE10334 we...
Published in BMC Medical Genomics
Background: In China, gastric cancer (GC) is one of the most common malignant tumors. This study aimed to explore the relationship of rs2297810, rs4646491 and rs2297809 polymorphisms of CYP4B1 with susceptibility to GC in the Chinese Han population. Methods: A case-control study including 707 GC cases and 707 normal controls was conducted. Three si...
Published in BMC medical genomics
hepatocellular carcinoma (HCC) is the major form of liver cancer with a poor prognosis. Amino acid metabolism has been found to alter in cancers and contributes to malignant progression. However, the asparagine metabolism status and relevant mechanism in HCC were barely understood. By conducting consensus clustering and the least absolute shrinkage...
Published in BMC Medical Genomics
Background Energy metabolism disorder, especially lipid metabolism disorder, is an important biological characteristic of colon cancer. This research sought to examine the association between lipid metabolism-related long non-coding RNAs (lncRNAs) and prognoses among colon cancer patients. Methods The transcriptome profile and clinical data of pati...
Published in BMC Medical Genomics
Background Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL; OMIM# 615381) is a rare autosomal dominant disorder, with only a few reported cases worldwide. Herein, we describe the clinical features and underlying molecular etiology of MDPL syndrome in an 8-year-old Chinese patient. Methods We performed otologica...
Published in BMC Medical Genomics
Various studies showed that the effect of immune activation is pro-atherogenic and coronary heart disease (CHD) should therefore be considered an autoimmune disease. This study aimed to identify potential immune-related biomarkers, pathways, and the potential regulatory networks underlying CHD. Differentially expressed genes (DEGs) between CHD and ...
