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Asymmetric presentation with a novel RP2 gene mutation in X-Linked retinitis pigmentosa: a case report
BackgroundWe present the detailed multimodal imaging analysis in a case of X-linked retinitis pigmentosa (XLRP) exhibiting a markedly asymmetric...
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Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients
Xeroderma pigmentosum (XP) is a genetic disorder caused by mutations in genes of the Nucleotide Excision Repair (NER) pathway (groups A-G) or in...
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Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation
BackgroundBeyond the observed alterations in cellular structure and mitochondria, the mechanisms linking rare genetic mutations to the development of...
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Targeting pyruvate dehydrogenase kinase 1 overcomes EGFR C797S mutation-driven osimertinib resistance in non-small cell lung cancer
Osimertinib, a selective third-generation epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor (TKI), effectively targets the EGFR T790M...
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Loss-of-function mutation in PRMT9 causes abnormal synapse development by dysregulation of RNA alternative splicing
Protein arginine methyltransferase 9 (PRMT9) is a recently identified member of the PRMT family, yet its biological function remains largely unknown....
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Clinical and radiological features associated with EGFR mutation in non-small-cell lung cancer: a study of 149 cases
BackgroundLung cancer is the leading cause of cancer death in the world. Non-small-cell lung cancer (NSCLC) accounts for 85% of primary lung tumors....
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A generalizable deep learning framework for inferring fine-scale germline mutation rate maps
Germline mutation rates are essential for genetic and evolutionary analyses. Yet, estimating accurate fine-scale mutation rates across the genome is...
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Computational Study on Effect of KCNQ1 P535T Mutation in a Cardiac Ventricular Tissue
Heart diseases such as arrhythmia are the main causes of sudden death. Arrhythmias are typically caused by mutations in specific genes, damage in the...
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A de novo missense mutation in synaptotagmin-1 associated with neurodevelopmental disorder desynchronizes neurotransmitter release
Synaptotagmin-1 (Syt1) is a presynaptic calcium sensor with two calcium binding domains, C2A and C2B, that triggers action potential-induced...
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KCNJ5 mutation is a predictor for recovery of endothelial function after adrenalectomy in patients with aldosterone-producing adenoma
The relationship of KCNJ5 mutation with vascular function and vascular structure in aldosterone-producing adenoma (APA) patients before and after...
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Cell-free circulating RAS mutation concentrations significantly impact the survival of metastatic colorectal cancer patients
PurposeRAS mutations are predictors of an adverse outcome in EGFR-targeted therapies and have been proposed as prognostic biomarkers of survival in...
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Desmoplastic fibroma of the pediatric cranium with CTNNB1 mutation: case report and literature review
PurposeDesmoplastic fibroma (DF) is an uncommon intermediate bone tumor rarely involving the skull with unidentified pathogenesis. We report the...
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Mutation ∆K281 in MAPT causes Pick’s disease
Two siblings with deletion mutation ∆K281 in MAPT developed frontotemporal dementia. At autopsy, numerous inclusions of hyperphosphorylated 3R Tau...
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Mutation in glutamate transporter homologue GltTk provides insights into pathologic mechanism of episodic ataxia 6
Episodic ataxias (EAs) are rare neurological conditions affecting the nervous system and typically leading to motor impairment. EA6 is linked to the...
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Effects of a novel ANLN E841K mutation associated with SRNS on podocytes and its mechanism
BackgroundSteroid-resistant nephrotic syndrome (SRNS) is characterized by unrelieved proteinuria after an initial 4–8 weeks of glucocorticoid...
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A destabilizing Y891D mutation in activated EGFR impairs sensitivity to kinase inhibition
EGFR tyrosine kinase inhibitors (TKIs) have transformed the treatment of EGFR-mutated non-small cell lung carcinoma (NSCLC); however, therapeutic...
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Experimental study on the seepage mutation of natural karst collapse pillar (KCP) fillings over mass outflow
Conduction between the unique geological formation karst collapse pillar (KCP) and the fractures caused by mining in the coal seam floor can lead to...
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Deoxyguanosine kinase mutation F180S is associated with a lean phenotype in mice
BackgroundDeoxyguanosine kinase (DGUOK) deficiency is one of the genetic causes of mitochondrial DNA depletion syndrome (MDDS) in humans, leading to...
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Mitigating GNSS multipath in landslide areas: A novel approach considering mutation points at different stages
Global navigation satellite system (GNSS) positioning technology is widely used in landslide monitoring due to its unique real-time and...
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The identification of a novel mutation (p.I223fs) in WRN associated with Werner syndrome
PurposeWerner syndrome (WS) is a rare autosomal recessive genetic disease caused by mutations in the WRN gene, and it is characterized by multiple...
