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BackgroundThe research on human microbiota-associated (HMA) animal models is an important tool for studying the human microbiome and holds great potential for elucidating disease mechanisms and microbe-based therapeutic ...

The coevolution of the human diet and gut microbiome has played a pivotal role in shaping metabolic, immune, and epigenetic functions across human history. Dietary transitions from high-fiber ancestral patterns to modern...

Deficiency of adenosine deaminase 2 (DADA2) was identified in 2014 as a novel inborn error of immunity caused by biallelic pathogenic variants in ADA2. DADA2 patients express two predominant clinical phenotypes: (1) auto...

BackgroundT cell receptor excision circle (TREC)-based newborn screening (NBS) for severe combined immunodeficiency (SCID) has improved early diagnosis, treatment, and survival of SCID infants and identified additional c...

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a monogenic disorder caused by loss-of-function mutations in the FOXP3 gene, which is critical for the development of functional regulato...

IntroductionRelA deficiency is a recently recognized inborn error of immunity (IEI) caused by mutations in the RELA gene. RelA is a transcriptional factor in the NF-kB pathway. Deficiency of RelA leads to impaired downre...

Background22q11.2 deletion syndrome (DS) is the most common chromosomal microdeletion syndrome and a leading cause of developmental delay, congenital heart disease, and varying degrees of T cell immunodeficiency. While m...

Abstract Objective Breast cancer remains a major cause of morbidity and mortality among Ugandan women, who often present at younger age with advanced disease. Doxorubicin is central to treatment regimens, but current dos...

Nonsyndromic orofacial clefts (NSOC) are common congenital craniofacial developmental defects. Current evidence suggests that genetic factors, environmental exposures, and their interactions jointly contribute to the dev...

BackgroundType 2 diabetes (T2D) is a heterogeneous disease for which (1) disease-causing pathways are incompletely understood and (2) subclassification may improve patient management. Unlike other biomarkers, germline ge...

Abstract Background Hereditary breast and ovarian cancer (HBOC) confers a markedly increased lifetime risk of breast and ovarian cancers. As no effective surveillance method for early detection of ovarian cancer has been...

Abstract Objective To explore the utility of microarray technology in prenatal diagnosis of nasal bone agenesis or hypoplasia. Methods Between July 2018 to October 2023, several cases of abnormal nasal bone development w...

The escalating global prevalence of antibiotic-resistant Helicobacter pylori strains has undermined conventional eradication therapies, heightening the burden of associated conditions such as gastritis, peptic ulcers and...

Abstract Background The genetic basis of autism spectrum disorder (ASD) is complicated by high heritability and substantial heterogeneity, in which de novo variants and polygenic burden from common variants have not been...

Abstract Background Dilated cardiomyopathy (DCM) is a leading cause of heart failure, often resulting in reduced ejection fraction and progressive cardiac dysfunction. Although up to half of idiopathic DCM can be linked ...

Abstract Background Hepatocellular carcinoma (HCC) outcomes remain suboptimal. Myeloid-derived suppressor cells (MDSCs) exhibit notable immunosuppressive and pro-tumorigenic properties. However, the relationship with HCC...

Evidence from both GWAS and clinical observation has suggested that certain psychiatric, metabolic, and autoimmune diseases are heterogeneous, comprising multiple subtypes with distinct genomic etiologies and Polygenic R...

Background A new approach to estimating gene carrier rates was introduced in 2019, relying on the frequency of pathogenic/likely pathogenic (P/LP) variants from ClinVar in a large, population sequencing database (Genome ...

Abstract Background Accurate risk stratification of colorectal cancer (CRC) is essential for precise screening. Polygenic risk scores (PRS) hold promise for improving predictive efficacy in CRC. However, the real-world a...

Abstract Background Isodicentric Y chromosomes [idic(Y)] are frequently detected in patients with disorders of sex development (DSDs). However, prenatal cases are rarely reported. We performed comprehensive prenatal diag...

Abstract Background Proteins represent the dynamic downstream products of genes, and have the potential to substantially increase understanding of the complexities of cancer biology. Undifferentiated pleomorphic sarcoma ...

Abstract Background The complex relationship between the gut microbiome and immune system development during infancy is considered a key factor in the rising rates of pediatric allergic diseases. Food protein-induced all...

Abstract Mortality rates from breast cancer in young women have fallen considerably in high-income countries but continue to rise in low-income countries such as Morocco. Young women with breast cancer face unique challe...

Abstract Prostate cancer (PCa) is a heterogeneous and prevalent neoplasm, traditionally stratified by PSA and Gleason Score. However, these biomarkers have prognostic limitations, driving the search for new molecular mar...