「Identification of novel mutations and reassignment of archival xeroderma pigmentosum group C cell strains from Japanese patients」の関連論文
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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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Incontinentia pigmenti in a female infant with somatic mosaicism due to the IKBKG variant
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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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Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
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A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease
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Severe neurodevelopmental disorder caused by an MEF2C nonsense mutation
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Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings
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Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings
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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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Pitfalls in establishing mouse model of female infertility by immunization with human centromere protein
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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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Unique reticular hyperkeratotic eruptions seen in a patient with Darier's disease and attention deficit hyperactivity disorder
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Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis
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Clinical and serological features of dermatomyositis and systemic lupus erythematosus patients with autoantibodies to ADAR1
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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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Autism-associated mutation in Hevin/Sparcl1 induces endoplasmic reticulum stress through structural instability
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Pathogenic mutation of TDP-43 impairs RNA processing in a cell type-specific manner : implications for the pathogenesis of ALS/FTLD (本文)
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Identification of a novel uterine leiomyoma GWAS locus in a Japanese population (本文)
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Homozygous variant p.Ser427Pro in PNPLA1 is a preventive factor from atopic dermatitis
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Prenatal diagnosis of severe mitochondrial disease caused by nuclear gene defects: a study in Japan
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Recurrent palmoplantar pustulosis at the site of insertion of therapeutic titanium
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A RUNX-targeted gene switch-off approach modulates the BIRC5/PIF1-p21 pathway and reduces glioblastoma growth in mice
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Identification of a multiresistant mosaic plasmid carrying a new segment of IS1216E-flanked optrA with integrated Tn551-ermB element in linezolid-resistant Enterococcus faecalis human isolate
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Long-read bitter gourd (Momordica charantia) genome and the genomic architecture of nonclassic domestication
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Spontaneous regression of hidroacanthoma simplex after skin biopsy
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Real-world application of next-generation sequencing-based test for surgically resectable colorectal cancer in clinical practice (本文)
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Patient-derived ovarian cancer organoids capture the genomic profiles of primary tumours applicable for drug sensitivity and resistance testing (本文)
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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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Paraneoplastic Pemphigus Mimicking Toxic Epidermal Necrolysis Associated with Follicular Lymphoma: Possible Pathological Role of CD8 T Cells.
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Pluripotent stem cell model of Shwachman-Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitors
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Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant
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Trp53 Mutation in Keratin 5 (Krt5)-Expressing Basal Cells Facilitates the Development of Basal Squamous-Like Invasive Bladder Cancer in the Chemical Carcinogenesis of Mouse Bladder
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Studies on multifunctional genome elements functioning in mouse spermatogenesis [an abstract of entire text]
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Prognostic stratification for IDH-wild-type lower-grade astrocytoma by Sanger sequencing and copy-number alteration analysis with MLPA
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Comparative Plastid Genomics of Green-Colored Dinoflagellates Unveils Parallel Genome Compaction and RNA Editing
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Single-cell transcriptomics of human cholesteatoma identifies an activin A-producing osteoclastogenic fibroblast subset inducing bone destruction
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Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers
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Reverse Genetic Studies on Mitochondrial tRNA-related Disorders
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Characterization of the traditional sake yeast Hiroshima no. 6 and its application to sake yeast cross-breeding.
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Lionheart LincRNA alleviates cardiac systolic dysfunction under pressure overload
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Generation of Footprint-Free Canine Induced Pluripotent Stem Cells from Peripheral Blood Mononuclear Cells Using Sendai Virus Vector
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Koebner phenomenon seen in a case of drug-induced granular C3 dermatosis
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Comprehensive genomics in androgen receptor-dependent castration-resistant prostate cancer identifies an adaptation pathway mediated by opioid receptor kappa 1
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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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Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency
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Genetic and chemical inhibition of IRF5 suppresses pre-existing mouse lupus-like disease
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Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19
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Malfunctioning CD106-positive, short-term hematopoietic stem cells trigger diabetic neuropathy in mice by cell fusion.
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Squamous Cell Carcinoma at the Site of Cutaneous Lymphoid Hyperplasia