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PARP inhibitor and immune checkpoint inhibitor have synergism efficacy in gallbladder cancer
Gallbladder cancer (GBC) is an aggressive cancer with poor prognosis. PARP inhibitors (PARPi) target PARP enzymes and have shown efficacy in patients...
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Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population
Acid sphingomyelinase deficiency (ASMD) and Gaucher disease (GD) are lysosomal storage disorders associated with hepatosplenomegaly and...
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Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia
BackgroundIntronic GAA repeat expansion ([GAA] ≥250) in FGF14 is associated with the late-onset neurodegenerative disorder, spinocerebellar ataxia...
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No causal relationship between glucose and inflammatory bowel disease: a bidirectional two-sample mendelian randomization study
BackgroundAssociation between glucose and inflammatory bowel disease (IBD) was found in previous observational studies and in cohort studies....
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Clinical features and ALDH5A1 gene findings in 13 Chinese cases with succinic semialdehyde dehydrogenase deficiency
Background and aimsTo investigate the clinical features, ALDH5A1 gene variations, treatment, and prognosis of patients with succinic semialdehyde...
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Network proximity analysis as a theoretical model for identifying potential novel therapies in primary sclerosing cholangitis
Primary Sclerosing Cholangitis (PSC) is a progressive cholestatic liver disease with no licensed therapies. Previous Genome Wide Association Studies...
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RhoJ: an emerging biomarker and target in cancer research and treatment
RhoJ is a Rho GTPase that belongs to the Cdc42 subfamily and has a molecular weight of approximately 21 kDa. It can activate the p21-activated kinase...
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Human adipose-derived stem cells genetically programmed to induce necroptosis for cancer immunotherapy
Herein, we present human adipose-derived stem cells (ADSCs) inserted with the receptor-interacting protein kinase-3 (RIP3) gene (RP@ADSCs), which...
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Proteomic profiling reveals ACSS2 facilitating metabolic support in acute myeloid leukemia
Acute myeloid leukemia (AML) is a heterogeneous disease characterized by genomic aberrations in oncogenes, cytogenetic abnormalities, and an aberrant...
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Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene
The PAX6 gene encodes a highly-conserved transcription factor involved in eye development. Heterozygous loss-of-function variants in PAX6 can cause a...
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Resolving haplotype variation and complex genetic architecture in the human immunoglobulin kappa chain locus in individuals of diverse ancestry
Immunoglobulins (IGs), critical components of the human immune system, are composed of heavy and light protein chains encoded at three genomic loci....
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Two novel TMEM67 variations in a Chinese family with recurrent pregnancy loss: a case report
BackgroundRecurrent pregnancy loss (RPL) is a common pregnancy complication that brings great pain to pregnant women and their families. Genetic...
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The recommendation of re-classification of variants of uncertain significance (VUS) in adult genetic disorders patients
Since variants of uncertain significance (VUS) reported in genetic testing cannot be acted upon clinically, this classification may delay or prohibit...
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Gene replacement therapy for spinal muscular atrophy: safety and preliminary efficacy in a Brazilian cohort
Spinal muscular atrophy (SMA) is a motor neuron disease associated with progressive muscle weakness, ventilatory failure, and reduced survival....
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Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network
In the past decade, next-generation sequencing (NGS) has revolutionised genetic diagnostics for rare neurological disorders (RND). However, the lack...
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Regulatory roles of N6-methyladenosine (m6A) methylation in RNA processing and non-communicable diseases
Post-transcriptional RNA modification is an emerging epigenetic control mechanism in cells that is important in many different cellular and...
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Increased risk of hearing loss associated with MT-RNR1 gene mutations: a real-world investigation among Han Taiwanese Population
BackgroundPrevious studies have implicated inherited mutations in mitochondrial DNA (mtDNA) in sensorineural hearing loss (SNHL). However, the...
