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Clinical and genetic analysis of cytochrome P450 oxidoreductase (POR) deficiency in a female and the analysis of a novel POR intron mutation causing alternative mRNA splicing
ObjectiveTo characterize the clinical features of a female with P450 oxidoreductase (POR) deficiency and to investigate the underlying mechanisms of...
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Alcohol use disorder causes global changes in splicing in the human brain
Alcohol use disorder (AUD) is a widespread disease leading to the deterioration of cognitive and other functions. Mechanisms by which alcohol affects...
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Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism
Congenital hyperinsulinism (CHI), a major cause of persistent and recurrent hypoglycemia in infancy and childhood. Numerous pathogenic genes have...
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Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect
BackgroundLimb-girdle muscular dystrophies are a group of genetically heterogeneous diseases that are inherited in both autosomal dominant (LGMDD)...
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A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes
Specific classes of DNA damage repair (DDR) defect can drive sensitivity to emerging therapies for metastatic prostate cancer. However, biomarker...
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Risk of cancer in individuals with Lynch-like syndrome and their families: a systematic review
BackgroundLynch-like syndrome (LLS) tumors have similar clinicopathological features to Lynch syndrome (LS) tumors but have no identifiable...
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Potential pathogenetic link between angiomyofibroblastoma and superficial myofibroblastoma in the female lower genital tract based on a novel MTG1-CYP2E1 fusion
Angiomyofibroblastoma and superficial myofibroblastoma are distinctive benign mesenchymal tumors occurring in the female lower genital tract. Despite...
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Hereditary pheochromocytoma/paraganglioma syndrome with a novel mutation in the succinate dehydrogenase subunit B gene in a Japanese family: two case reports
BackgroundPheochromocytoma and paraganglioma caused by succinate dehydrogenase gene mutations is called hereditary pheochromocytoma/paraganglioma...
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Utility of RNA Sequencing Analysis in the Context of Genetic Testing
Purpose of ReviewRNA analysis is beginning to be integrated into clinical laboratory genomics, and a review of its current uses and limitations is...
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Predictive values of mutational variant allele frequency in overall survival and leukemic progression of myelodysplastic syndromes
BackgroundThe implication of mutational variant allelic frequency (VAF) has been increasingly considered in the prognostic interpretation of...
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Lipoblastomas presenting in older children and adults: analysis of 22 cases with identification of novel PLAG1 fusion partners
Lipoblastomas are benign neoplasms of embryonal white fat that typically present in the first 3 years of life and show a lobular arrangement of...
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Genetic spectrum and predictors of mutations in four known genes in Asian Indian patients with growth hormone deficiency and orthotopic posterior pituitary: an emphasis on regional genetic diversity
ContextRegional variation in prevalence of genetic mutations in growth hormone deficiency (GHD) is known.
AimStudy phenotype and prevalence of...
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Association of Epidermal Growth Factor 61A>G, Survivin -31G>C, and EFNA1 -1732G>A Polymorphisms with Susceptibility to Colorectal Cancer
BackgroundGenetic polymorphisms play an important role in the development of colorectal cancer (CRC). Functional variants in the epidermal growth...
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Neurexins in autism and schizophrenia—a review of patient mutations, mouse models and potential future directions
Mutations in the family of neurexins ( NRXN1 , NRXN2 and NRXN3 ) have been repeatedly identified in patients with autism spectrum disorder (ASD) and...
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Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes
Germline variants in tumor suppressor genes (TSGs) can result in RNA mis-splicing and predisposition to cancer. However, identification of variants...
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Chronic lymphocytic leukaemia/small lymphocytic lymphoma and mantle cell lymphoma: from early lesions to transformation
The International Clinical Advisory Committee reviewed advances in our understanding of the clinicopathologic and biologic features of chronic...
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Genome-wide analysis identified novel susceptible genes of restless legs syndrome in migraineurs
BackgroundRestless legs syndrome is a highly prevalent comorbidity of migraine; however, its genetic contributions remain unclear.
Objectives ...
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Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology
Cerebral palsy is a clinical descriptor covering a diverse group of permanent, non-degenerative disorders of motor function. Around one-third of...
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Knockdown of SF3B1 inhibits cell proliferation, invasion and migration triggering apoptosis in breast cancer via aberrant splicing
BackgroundSplicing factor 3b subunit 1 (SF3B1) was frequently reported to be significantly mutated in breast cancer. However, the status of SF3B1...
