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Analysis of human papillomavirus type 16 E4, E5 and L2 gene variations among women with cervical infection in **njiang, China
BackgroundThere is a high incidence of cervical cancer in **njiang. Genetic variation in human papillomavirus may increase its ability to invade,...
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A novel start-loss mutation of the SLC29A3 gene in a consanguineous family with H syndrome: clinical characteristics, in silico analysis and literature review
BackgroundThe SLC29A3 gene, which encodes a nucleoside transporter protein, is primarily located in intracellular membranes. The mutations in this...
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A healthy live birth after mosaic blastocyst transfer in preimplantation genetic testing for GATA1-related cytopenia combined with HLA matching
BackgroundGATA1-related cytopenia (GRC) is characterized by thrombocytopaenia and/or anaemia ranging from mild to severe. Haematopoietic stem cell...
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Effect of the OPHN1 novel variant c.1025+1 G>A on RNA splicing: insights from a minigene assay
This research analyzes the clinical data, whole-exome sequencing results, and in vitro minigene functional experiments of a child with developmental...
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Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families
BackgroundIntellectual disability (ID) is a neurodevelopmental condition affecting around 2% of children and young adults worldwide, characterized by...
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Analysis of molecular epidemiological characteristics and antimicrobial susceptibility of vancomycin-resistant and linezolid-resistant Enterococcus in China
BackgroundThis study investigates the distribution and characteristics of linezolid and vancomycin susceptibilities among Enterococcus faecalis ( E....
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Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia
BackgroundAutosomal recessive non-syndromic hearing loss (NSHL) and cone dystrophies (CODs) are highly genetically and phenotypically heterogeneous...
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RNA-seq reveals differentially expressed lncRNAs and circRNAs and their associated functional network in HTR-8/Svneo cells under hypoxic conditions
Placental hypoxia is hazardous to maternal health as well as fetal growth and development. Preeclampsia and intrauterine growth restriction are...
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Exploring the potential of genetic analysis in historical blood spots for patients with iodine-deficient goiter and thyroid carcinomas in Switzerland and Germany (1929–1989)
Iodine deficiency-induced goiter continues to be a global public health concern, with varying manifestations based on geography, patient’s age, and...
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Identification of four TTN variants in three families with fetal akinesia deformation sequence
BackgroundTTN is a complex gene with large genomic size and highly repetitive structure. Pathogenic variants in TTN have been reported to cause a...
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A novel mutation in SORD gene associated with distal hereditary motor neuropathies
BackgroundDistal hereditary motor neuropathy (dHMN) is a heterogeneous group of hereditary diseases caused by the gradual degeneration of the lower...
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Comprehensive analysis of the expression, prognostic, and immune infiltration for COL4s in stomach adenocarcinoma
BackgroundCollagen (COL) genes, play a key role in tumor invasion and metastasis, are involved in tumor extracellular matrix (ECM)-receptor...
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Molecular genomic and epigenomic characteristics related to aspirin and clopidogrel resistance
BackgroundMediators, genomic and epigenomic characteristics involving in metabolism of arachidonic acid by cyclooxygenase (COX) and lipoxygenase...
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Expression profile of long noncoding RNAs and comprehensive analysis of lncRNA-cisTF-DGE regulation in condyloma acuminatum
ObjectiveTo identify differentially expressed long noncoding RNAs (lncRNAs) in condyloma acuminatum (CA) and to explore their probable regulatory...
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The prognostic significance of ubiquitination-related genes in multiple myeloma by bioinformatics analysis
BackgroundImmunoregulatory drugs regulate the ubiquitin-proteasome system, which is the main treatment for multiple myeloma (MM) at present. In this...
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Association of disease severity and genetic variation during primary Respiratory Syncytial Virus infections
BackgroundRespiratory Syncytial Virus (RSV) disease in young children ranges from mild cold symptoms to severe symptoms that require hospitalization...
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Evidence for a relationship between genetic polymorphisms of the L-DOPA transporter LAT2/4F2hc and risk of hypertension in the context of chronic kidney disease
BackgroundChronic kidney disease (CKD) and hypertension are chronic diseases affecting a large portion of the population frequently coexistent and...
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Identification of miRNA expression profile in middle ear cholesteatoma using small RNA-sequencing
BackgroundThe present study aims to identify the differential miRNA expression profile in middle ear cholesteatoma and explore their potential roles...
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SLC40A1-related hemochromatosis associated with a p.Y333H mutation in mainland China: a pedigree report and literature review
BackgroundHaemochromatosis is a genetic disease characterized by the excessive deposition of iron in various tissues and organs, eventually results...
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Congenital hallux valgus occurs in Fibrodysplasia Ossificans Progressiva and BMPR1B-associated dysplasia: an important distinction
BackgroundFibrodysplasia Ossificans Progressiva (FOP; OMIM #135100) is an ultrarare genetic disorder characterised by congenital bilateral hallux...
