「Increased CaV1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly」の関連論文
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T2-FLAIR mismatch sign in dysembryoplastic neuroepithelial tumor
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T2-FLAIR mismatch sign in dysembryoplastic neuroepithelial tumor
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Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo
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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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A case of Cockayne syndrome with unusually mild clinical manifestations
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BRCA1 haploinsufficiency promotes chromosomal amplification under Fenton reaction-based carcinogenesis through ferroptosis-resistance
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成獣ライディッヒ細胞における性染色体の機能解析
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Functional analysis of P53 negative regulators in Bombyx mori
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A possible link between ages of older fathers and the white matter aberrations found in autism spectrum disorder
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Serial Myocardial Native T1 Assessment for Prediction of LV Functional Recovery in Recent-Onset DCM: A Comparison with Histology
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Two sporadic cases of childhood-onset Hailey-Hailey disease with superimposed mosaicism
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Inhibition of microRNA-33b specifically ameliorates abdominal aortic aneurysm formation via suppression of inflammatory pathways
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A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism
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Enhanced osteoclastogenesis in patients with MSMD due to impaired response to IFN-γ
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Enhanced osteoclastogenesis in patients with MSMD due to impaired response to IFN-γ
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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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Combination of target site mutation and associated CYPs confers high-level resistance to pyridaben in Tetranychus urticae
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Identification of T cell receptors targeting a neoantigen derived from recurrently mutated FGFR3
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Human induced pluripotent stem cells generated from a patient with idiopathic basal ganglia calcification
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CD4/CD8 double-negative T-cell lymphoma successfully treated with a combination of bexarotene and total skin electron beam therapy
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Minor allele of GJA1 gene polymorphism is associated with higher heart rate during atrial fibrillation
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Minor allele of GJA1 gene polymorphism is associated with higher heart rate during atrial fibrillation
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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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Blood-cerebrospinal fluid barrier: another site disrupted during experimental cerebral malaria caused by Plasmodium berghei ANKA
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The transcription factor ZFP64 facilitates climbing-fiber synapse elimination along signaling pathway mediated by P/Q-type voltage-dependent Ca2+ channel in the developing cerebellum
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The crosstalk between aldosterone production and extracellular calcium metabolism in primary aldosteronism
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A case of systemic lupus erythematosus/systemic sclerosis overlap syndrome successfully treated with belimumab
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A Biomarker for Benign Adult Familial Myoclonus Epilepsy: High-Frequency Activities in Giant Somatosensory Evoked Potentials
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Homozygous variant p.Ser427Pro in PNPLA1 is a preventive factor from atopic dermatitis
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Identification of a novel uterine leiomyoma GWAS locus in a Japanese population (本文)
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Real-life progression of the use of a genetic panel in to diagnose neonatal cholestasis
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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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A systemic form chronic active Epstein-Barr virus infection diagnosed from erythema nodosum-like skin lesions
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Pluripotent stem cell model of Shwachman-Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitors
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Conserved Double Translation Initiation Site for Δ160p53 Protein Hints at Isoform’s Key Role in Mammalian Physiology
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Koebner phenomenon seen in a case of drug-induced granular C3 dermatosis
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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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Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease
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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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MafB is important for pancreatic β-cell maintenance under a MafA deficient condition
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FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients
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Influence of UGT1A1 Genetic Variants on Free Bilirubin Levels in Japanese Newborns: A Preliminary Study
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Postoperative supraventricular tachycardia and polymorphic ventricular tachycardia due to a novel SCN5A variant: a case report of a rare comorbidity that is difficult to diagnose.
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Aseptic meningitis as an initial presentation of Sjögren syndrome: a report of two cases and literature review
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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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Lack of association between seropositivity of vasculopathy-related viruses and moyamoya disease
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The relationship between DRD2 Taq1A polymorphism and white matter structure in healthy young adults.
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Wilson’s disease model establishment from human induced pluripotent stem cells
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Occurrence of cholangiocarcinoma, three years after negative seroconversion of anti-TIF1γ antibody, in a dermatomyositis patient
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Dibromopinocembrin and Dibromopinostrobin Are Potential Anti-Dengue Leads with Mild Animal Toxicity