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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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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The genetic susceptibility of SOD2 gene polymorphism in sudden sensorineural hearing loss (SSNHL)
March 2025
The genic etiology of sudden sensorineural hearing loss (SSNHL) is associated with gene polymorphism which is related to oxygen metabolism of cochlear hair cells....
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RNA binding proteins (RBPs) on genetic stability and diseases
March 2025
RNA-binding proteins (RBPs) are integral components of cellular machinery, playing crucial roles in the regulation of gene expression and maintaining genetic stability. Their interactions with RNA molecules...
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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
Available online 6 February 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
Available online 4 February 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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Patterns of Cytogenomic Findings from a Case Series of Recurrent Pregnancy Loss Provide Insight into the Extent of Genetic Defects Causing Miscarriages
2024
A retrospective study was performed to evaluate the patterns of cytogenomic findings detected from a case series of products of conception (POC) in recurrent pregnancy loss (RPL) over a 16-year period...
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Identification of Novel Risk Variants of Inflammatory Factors Related to Myeloproliferative Neoplasm: A Bidirectional Mendelian Randomization Study
2024
Epidemiological and experimental evidence has linked chronic inflammation to the etiology of myeloproliferative neoplasm (MPN). However, it remains unclear whether genetic associations with specificinflammatory...
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The Relationship between VDR Gene Polymorphisms Bsm1 and Apa1 with Breast Cancer Risk
2024
In addition to its multifaceted physiological functions, vitamin D is recognized for its protective role against cancer. To manifest its effects, vitamin D engages with the vitamin D receptor (VDR)...
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Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142: A Case Report and Review of the UPD2 Literature
2024
We report a 4-year-old girl with neurodevelopmental abnormalities who has maternal uniparental isodisomy of chromosome 2 leading to homozygosity for a likely pathogenic variant in SPR, and a variant...
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The Multifaceted Role of Oxytocinergic System and OXTR Gene
2024
The article explores the multifaceted role of the neuropeptide oxytocin in human behavior and its connection to the oxytocin receptor (OXTR) gene. Oxytocin, produced in specific brain nuclei, is implicated...
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Analyzing Cell-free Genomic DNA in Spent Culture Media: Noninvasive Insight into the Blastocysts
2024
A commonly accepted standard protocol for noninvasive techniques for the genetic evaluation of an embryo remains elusive due to inconclusiveness regarding the volume of spent media to be acquired and...
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Clinical and Molecular Characteristics of Megakaryocytes in Myelodysplastic Syndrome
2024
Myelodysplastic syndrome (MDS) is a malignant clonal disorder of hematopoietic stem cells which is characterized by morphologic dysplasia. However, the pathological characteristics of megakaryocytes...
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