「Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19」の関連論文
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All reported non-canonical splice site variants in GLA cause aberrant splicing
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EYS is a major gene involved in retinitis pigmentosa in Japan: Genetic landscapes revealed by stepwise genetic screening.
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Branchpoints as potential targets of exon-skipping therapies for genetic disorders
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Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant
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Identification of novel mutations and reassignment of archival xeroderma pigmentosum group C cell strains from Japanese patients
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Sequencing of selected chromatin remodelling genes reveals increased burden of rare missense variants in ASD patients from the Japanese population
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Long-Read Sequence Confirmed a Large Deletion Including MYH6 and MYH7 in an Infant of Atrial Septal Defect and Atrial Arrhythmias.
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Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing
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Comprehensive analysis of full-length transcripts reveals novel splicing abnormalities and oncogenic transcripts in liver cancer
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The landscape of genetic aberrations in myxofibrosarcoma
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Genetic and Physiological Characterization of Tomato F-box Gene HAWAIIAN SKIRT Mutants
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Genetic screening for malignant hyperthermia and comparison of clinical symptoms in Japan
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Genetic screening for malignant hyperthermia and comparison of clinical symptoms in Japan
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Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease
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Lionheart LincRNA alleviates cardiac systolic dysfunction under pressure overload
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Reverse Genetic Studies on Mitochondrial tRNA-related Disorders
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A pipeline for complete characterization of complex germline rearrangements from long DNA reads
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Polo-like kinase 4 and stromal antigen 3 are not associated with recurrent pregnancy loss caused by embryonic aneuploidy
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Two effects of GATA2 enhancer repositioning by 3q chromosomal rearrangements.
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Identifying Potentially Beneficial Genetic Mutations Associated with Monophyletic Selective Sweep and a Proof-of-Concept Study with Viral Genetic Data
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Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency
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Pharmacogenomic study of anti-tuberculosis drugs-induced liver injury in Thais
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Genome-wide association studies on hepatocellular carcinoma after eradication of hepatitis C virus in Japanese and on chronic hepatitis B in Thai
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Molecular genetic study of the FMR1 CGG repeat configurations in the Japanese population and patients with Fragile X-Associated Tremor/Ataxia Syndrome
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Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis
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Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing
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Dual CRISPR-Cas3 system for inducing multi-exon skipping in DMD patient-derived iPSCs
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Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism
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Insights from a computational analysis of the SARS-CoV-2 Omicron variant: Host-pathogen interaction, pathogenicity, and possible drug therapeutics
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Molecular analysis of drug resistance associating gene mutations in Mycobacterium tuberculosis clinical isolates in Nepal [an abstract of entire text]
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Studies on multifunctional genome elements functioning in mouse spermatogenesis [an abstract of entire text]
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Large-scale discovery of male reproductive tract-specific genes through analysis of RNA-seq datasets
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Cryptic insertion of CBFB into MYH11 leading to a type D fusion in acute myeloid leukemia with normal karyotype
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FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients
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Wilson’s disease model establishment from human induced pluripotent stem cells
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Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency
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Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
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Two sporadic cases of childhood-onset Hailey-Hailey disease with superimposed mosaicism
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The association of thyroglobulin single nucleotide polymorphism with miniature dachshunds-specific inflammatory colorectal polyps and its involvement in interleukin-6 amplifier induced chronic inflammation
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Association of two variable number of tandem repeats in the monoamine oxidase A gene promoter with suicide completion: The present study and meta-analysis
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A proteome signature of umbilical cord serum associated with congenital diaphragmatic hernia
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Genetic basis of female-limited polymorphism of the damselfly Ischnura senegalensis
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Downregulation of lncRNA PVT1 inhibits proliferation and migration of mesothelioma cells by targeting FOXM1
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Downregulation of lncRNA PVT1 inhibits proliferation and migration of mesothelioma cells by targeting FOXM1
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HER2 G776S mutation promotes oncogenic potential in colorectal cancer cells when accompanied by loss of APC function
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Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes
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Analyses of genetic and retinal lesions in Ccdc85c knockout rats: a rat model of genetic hydrocephalus
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Genomic analysis of multiple myeloma using targeted capture sequencing in the Japanese cohort
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Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy
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An ancient retroviral RNA element hidden in mammalian genomes and its involvement in co-opted retroviral gene regulation