Karyogram in neonatology: Necessity or past?
September 2025
This research was conducted at the Clinic for Children's Diseases of the University Clinical Hospital (SKB) Mostar. The aim of this study is to assess the frequency and reasons for performing karyotyping...
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A novel CD40LG mutation causing X‑linked hyper-IgM syndrome
September 2025
X-linked hyper-IgM (X-HIGM), which results from mutations of the CD40 ligand gene (CD40LG) located on chromosome Xq26.3, is characterized by a defective T-B lymphocyte cross talk and class switch recombination...
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A review of the immunogenetics of Stevens-Johnson syndrome and toxic epidermal necrolysis
September 2025
Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are very rare dermatologic disorders characterized by extensive detachment of the epidermis. Although some drugs, infectious agents,...
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Clinical medication guidance for hypertension personalization through pharmacogenomic research and analysis
September 2025
We investigated the distribution of polymorphisms in five hypertension-related drug-target genes including cytochrome P450 2C9*3 (CYP2C9 *3), angiotensin II receptor type 1(AGTR1) (1166 A>C), cytochrome...
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Gene frequency and distribution of human platelet antigen-1 to −6, −10, −15, and −21 of platelets donors in Wuhan, China
September 2025
In this study, the frequency of human platelet antigen (HPA) alleles and genotypes of platelet donors in Wuhan was evaluated and differences in HPA distribution between Wuhan and other regions in China...
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The role of small extracellular vesicles in post-traumatic stress disorder
September 2025
Post-Traumatic Stress Disorder (PTSD) represents a significant mental health challenge closely associated with the consequences of traumatic experiences. Recently, small extracellular vesicles (sEVs)...
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Acute myeloneuropathy due to Glutaric aciduria-1: Expanding the phenotypic spectrum
June 2025
Glutaric aciduria type-1 (GA-1) is a rare metabolic disorder due to mutation in GCDH gene resulting in varied clinical manifestations. Here we report a case of late-onset GA-1 with acute myelo-neuropathy...
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PROKR2 mutations and SPRY4 variants with uncertain significance in a Kallmann syndrome family: Incomplete penetrance
June 2025
Kallmann syndrome is a rare genetic disease characterized by the idiopathic hypogonadotropic hypogonadism with hyposmia or anosmia, which exhibits considerable heterogeneity in genotype and phenotype....
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Role of agonistic autoantibodies to the angiotensin II type 1 receptor (AT1-AA) in pathogenesis of preeclampsia
June 2025
Preeclampsia(PE) is the most prevalent complication during pregnancy and constitutes a significant cause of morbidity and mortality among pregnant women and their fetuses. Recent studies have demonstrated...
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Unlocking the genetic blueprint of duchenne muscular dystrophy: A personalized approach with MLPA and WES
June 2025
Duchenne muscular dystrophy (DMD) is a progressive X-linked disorder causing muscle degeneration and multisystem involvement, requiring precise genetic diagnosis for timely intervention and treatme...
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Significant PK variability of plasma-derived FIX concentrates in chinese children with Haemophilia B: A fixed single-dose study of factor IX-CTBB
June 2025
The pharmacokinetics (PK) characters of plasma-derived Factor IX (pdFIX) concentrate in Chinese children with Haemophilia B(HB) have not yet been reported....
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Mayer-Rokitansky-Küster-Hauser syndrome associated with 7q11.23 microduplication: A case report
June 2025
Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is characterized by the congenital absence of the uterus and vagina in females with 46, XX karyotype. The genetic etiology remains poorly understood....
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Exploring molecular mechanisms of drug resistance in bacteria and progressions in CRISPR/Cas9-based genome expurgation solutions
June 2025
Antibiotic resistance in bacteria is a critical global health challenge, driven by molecular mechanisms such as genetic mutations, efflux pumps, enzymatic degradation of antibiotics, target site modifications,...
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Genetic contributions to the stability and satisfaction in Sexual Relationships
June 2025
The stability and satisfaction of sexual relationships are critical determinants of individual well-being and societal cohesion. While much is known about the psychological and social factors influencing...
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Real-world prognostic factors for first-line EGFR-TKI efficacy in advanced NSCLC patients harboring EGFR 21 L858R mutation
June 2025
This study aimed to investigate the prognostic factors for the treatment efficacy of epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKIs) in non-small cell lung cancer (NSCLC) patients...
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Noncoding RNAs evolutionarily extend animal lifespan
June 2025
The mechanisms underlying the evolution of lifespan across organisms remain mysterious. This study computes multiple large datasets and reveals that noncoding RNAs (ncRNAs), rather than proteins, drive...
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Polydactyly and syndactyly linked to GLI3 and TBX5 mutations: A pediatric case report
March 2025
Polydactyly and syndactyly, which are commonly encountered congenital limb deformities, rarely occur together and are linked with significant genetic mutations. This report sheds light on a unique co-presentation...
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Limb-Girdle Muscular Dystrophies (LGMD): Clinical features, diagnosis and genetic variability through next generation sequencing
March 2025
Limb-Girdle Muscular Dystrophy (LGMD) is a rare heterogeneous group of neuromuscular disorders distinguished by progressive weakness of limb-girdle muscles. Diagnosis of LGMD is a challenging task and...
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A scarce case: Co-occurrence of neurofibromatosis type 1 and Klinefelter syndrome
March 2025
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with a heterogeneous group of symptoms, including characteristic cafe-au-lait macules, axillary or inguinal freckling, Lisch nodules,...
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Genetic impact of copy number variations on congenital heart defects: Current insights and future directions
March 2025
Congenital heart defects (CHDs) are the most prevalent congenital abnormalities, and they are commonly associated with genetic alterations, namely copy number variants. CNVs, which are duplications...
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The pathogenesis of B-cell non-hodgkin lymphoma associated with HBV (hepatitis B virus) infection is regulated by c-Myc/PD-L1 signaling pathway
March 2025
HBV is closely associated with the incidence of B-NHL (B-cell non-hodgkin lymphoma). This project intends to establish HBV infection-induced B-NHL cells and animal models to clarify the mutual mechanism...
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Circadian rhythm, epigenetics and disease interaction
March 2025
Identifying the circadian clock first provided the genetic basis for behaviour, and our understanding of circadian rhythms has since expanded to provide molecular insight into disease and physiology....
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Research progress of circular RNA FOXO3 in diseases (review)
March 2025
Circular RNAs (circRNAs) are a newly discovered class of endogenous non-coding RNAs with a closed-loop structures, and they exert crucial regulatory functions in diverse biological processes and disease...
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Phenotypic variability in two siblings with Poretti-Boltshauser syndrome
March 2025
Poretti-Boltshauser Syndrome (PBS) is a rare neuro-ophthalmological disorder with autosomal recessive inheritance. It is characterized by non-progressive cerebellar ataxia, delay in neuropsychomotor...
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Cytochrome P450 3A gene family and medication in childhood nephrotic syndrome: An update
March 2025
Nephrotic syndrome (NS) is a renal disease characterized by excessive proteinuria (greater than 3.5 g/dl per 24 h), which results in hypoalbuminemia and leads to hyperlipidemia, edema, and various complications....
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