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Congenital biliary dilatation (CBD) is a prevalent congenital biliary disease in children, particularly in Asian populations, yet its etiology remains poorly understood. This study aimed to investigate the gen...
The purpose of this study was to explore the role of immune modulation and iron metabolism disorder in the pathogenesis of osteoarthritis.
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessive disorder. Riboflavin-responsive MADD (RR-MADD) represents a treatable subtype, though its molecular mechanisms are incompletely c...
CARS1 loss of function compound heterozygous or homozygous variants have been reported in five individuals to cause a neurodevelopmental phenotype that includes microcephaly and brittle hair and nails. Additional...
Ataxia-telangiectasia (A-T) is an infrequent autosomal recessive multisystemic disorder caused by ATM variants. It is characterized by progressive cerebellar ataxia, telangiectasia, susceptibility to malignancies...
As the building blocks of proteins and precursors of many other important compounds, amino acids play a vital role in the biochemical processes needed to sustain life. The branched-chain amino acids (BCAAs) ar...
The growing knowledge of long non-coding RNA (LncRNA) has suggested the role and predictive potential of LncRNA in cancer, but has not been translated into effective practical tools. The morbidity of colorecta...
Intrauterine growth restriction (IUGR) with rapid postnatal catch-up growth has been associated with adipose tissue inflammation and metabolic dysfunction. The long-term persistence of these abnormalities and ...
Stomach adenocarcinoma (STAD) poses a major public health challenge across various populations, necessitating the construction of robust models for prognostic prediction and effective clinical therapies. Dysre...
Necroptosis, a regulated form of programmed cell death, exacerbates inflammatory responses by releasing damage-associated molecular patterns and inflammatory factors. However, the specific mechanisms underlyin...
The Dent disease 1 is a rarely inherited renal tubular disease caused by variants in the CLCN5 gene. Increasing evidence suggests that many intronic variants can affect the normal splicing of pre-mRNA by altering...
The Slit guidance Ligand 2 (SLIT2) glycoprotein is of particular interest because of its role in modulating inflammation and the progression of diseases such as atherosclerosis. This study aimed to determine whet...
Humans are exposed to ionizing radiation (IR), which causes direct and indirect DNA damage. Biodosimetry is a critical component of clinical care following radiation exposure, enabling accurate assessment and ...
The incidence of abdominal aortic aneurysm (AAA) has been reported to be associated with rheumatoid arthritis (RA). This research aimed to analyze the co-pathogenesis of AAA and RA through bioinformatics and c...
Alzheimer’s disease (AD) is the most common neurodegenerative disorder, affecting over 32 million people globally. The variability in treatment response to AD medications is influenced by genetic factors, sex,...
This study aimed to explore the role of long non-coding RNA cancer Susceptibility 15 (CASC15) and microRNA (miR)-940 in atherosclerosis (AS) and to elucidate their potential mechanisms of action using an in vi...
Hypothalamic dysfunction occurs in alcohol use disorder (AUD). Here, we investigated the effects of alcohol exposure on hypothalamic gene expression in mice, and examined the role of the hypothalamus in AUD pa...
The intrapatient variability (IPV) of tacrolimus (Tac) has gradually become a new index for the prognosis of organ transplantation. The gene polymorphism is involved in the pharmacokinetic process of Tac. The ...
Glioblastoma (GBM), the most malignant central nervous system cancer, has a median survival rate of 14–16 months. GBM patients have a poor prognosis despite rigorous multi-modal treatments like surgical resect...
Wiedemann-Steiner syndrome (WSS) is a genetic malformation syndrome caused by abnormalities in KMT2A. It is characterized by developmental delays, facial dysmorphism, hypertrichosis, failure to thrive, and muscul...
Liver fibrosis is a common pathological process in chronic liver diseases and effective treatments are lacking. The activation of hepatic stellate cells (HSCs) is a critical step in the development of liver fi...
Due to its predictable pharmacodynamics and pharmacokinetics, stable blood concentration, and relatively short half-life, rivaroxaban is widely used in the prevention and treatment of thrombosis. It neverthele...
Breast cancer (BC) is the most prevalent cancer globally. Carriers of pathogenic variants in high- or moderate-penetrance genes, have an increased risk of developing hereditary BC (HBC). While, MUTYH is known ...
Lung adenocarcinoma (LUAD) is a leading cause of cancer-related mortality globally, necessitating finding novel therapeutic targets. Mitochondrial autophagy (mitophagy) and ferroptosis have emerged as promisin...
In recent years, interleukin-21 (IL-21) has been found to be a key player in RA pathogenesis and progression, despite accumulating evidence on rheumatoid arthritis (RA) etiology, the precise contribution of IL-21
The development of coronary artery disease (CAD) is the result of complex interactions between environmental and genetic factors. While the former is well known, the genetic factors that predispose individuals...
Ischemic stroke (IS), a leading cause of global disability and premature mortality, results from cerebral artery occlusion and subsequent ischemic necrosis. Fatty acid metabolism (FAM) plays a crucial role in ...
Alzheimer’s disease (AD) and Parkinson’s disease (PD) share neuroinflammatory features, yet their common immune-related mechanisms remain unclear.
Osteoporosis is an age-related skeletal disorder with an increasing burden of osteoporotic fractures worldwide, it is urgent the identification of reliable molecular characteristics to prevent the progression ...
Inherited retinal diseases (IRDs) are a group of heterogeneous conditions leading to visual impairment and blindness with over 280 associated genes identified so far. This study aims to provide an initial char...
Hemophilia A (HA) is an X-linked recessive bleeding disorder caused by pathogenic variants in the F8 gene, resulting in deficient coagulation factor VIII activity. Although intron 22 and intron 1 inversions (Inv2...
Antimicrobial resistance (AMR) threatens effective antibiotic treatment. Multidrug-resistant (MDR) bacterial clones pose a particular challenge because they facilitate rapid resistance dissemination. Tracking ...
Inflammatory cytokines are pivotal in the pathophysiology of acute coronary syndrome (ACS) and have been associated with major adverse cardiovascular events. In this study, we aimed to assess the association o...
Cutaneous Leishmaniasis (CL) is a vector-borne disease caused by a protozoan parasite and considered a public health challenge in many countries, including Iran. Recent research has focused on the role of Leishma...
Intellectual disability (ID) significantly impacts individual development and imposes a societal burden. Although mild ID accounts for approximately 85% of total cases, research into its genetic etiology remai...
Neurodevelopmental disorders (NDDs) are a heterogeneous group of conditions characterized by impairments in motor, cognitive, and behavioral functions. Despite advances in genomic sequencing, the genetic basis...
High-dose chemotherapy for neuroblastoma is often intolerable for children, and its effectiveness is difficult to determine. Immunotherapy has become a popular research focus as a potential treatment. Therefor...
Despite having heritability estimates of 80%, ~ 50% cases of autism spectrum disorders (ASD) remain without a genetic diagnosis. Structural variants (SVs) detected using long-read whole genome sequencing (lrWG...
The original article was published in BMC Medical Genomics 2025 18:78
Diabetic cardiomyopathy (DCM) is a complex clinical syndrome characterized by cardiac systolic and diastolic dysfunction. Research on the underlying mechanism of mitochondrial dysfunction and the involved gene...
Liver cancer is the leading cause of cancer deaths worldwide and is the only cancer type among the five deadliest cancers with an increasing incidence each year. The prognosis of liver cancer is poor and no ef...
Asthma is a complex and heterogeneous disease presenting with a wide range of phenotypes. While prior studies have highlighted the importance of gut microbiota in asthma development, the extent of their influe...
The original article was published in BMC Medical Genomics 2024 17:173
Discoveries of driver mutations in myeloproliferative neoplasms (MPNs) have filled the diagnostic gap however there are non-driver genes which play an important role in the phenotype of the disease. This study...
Heat stroke, caused by excessive heat production or impaired dissipation, often results from prolonged heat exposure or strenuous activity. Ferroptosis, a novel form of programmed cell death, has been implicat...
Although the clinical outcome of ER + breast cancer patients receiving tamoxifen after surgery is favorable, a proportion of patients experience recurrence or death due to disease progression.
DNA methylation plays a critical role in the dynamics of gene expression regulation and the development of various disorders. Whole-genome bisulfite sequencing can provide single-base resolution of CpG methyla...
Congenital heart disease (CHD) lesions are the most common birth defects and despite advances in care, are associated with short- and long-term co-morbidities. The exact mechanisms that may influence outcomes ...
Congenital heart disease (CHD) is an important cause of childhood mortality as well as morbidity in children and adults. While genetic risk contributes to the majority of CHD, most individuals with CHD do not ...
Many early-stage lung adenocarcinoma patients experience recurrence or metastasis after surgery, and the efficacy of targeted therapies remains suboptimal, significantly impacting the prognosis of these patien...
Citation Impact
Journal Impact Factor: 2.0 (2024)
5-year Journal Impact Factor: 2.4 (2024)
Source Normalized Impact per Paper (SNIP): 0.627 (2024)
SCImago Journal Rank (SJR): 0.701 (2024)
Speed
Submission to first editorial decision (median days): 7
Submission to acceptance (median days): 152
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