「Zonisamide can ameliorate the voltage-dependence alteration of the T-type calcium channel Cav3.1 caused by a mutation responsible for spinocerebellar ataxia」の関連論文
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Zonisamide can ameliorate the voltage-dependence alteration of the T-type calcium channel Cav3.1 caused by a mutation responsible for spinocerebellar ataxia
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Optical measurement of gating pore currents in hypokalemic periodic paralysis model cells
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Detailed analysis of Japanese patients with adenosine deaminase 2 deficiency reveals characteristic elevation of type II interferon signature and STAT1 hyperactivation
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Updated allele frequencies of SERPINB7 founder mutations in Asian patients with Nagashima-type palmoplantar keratosis/keratoderma
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Toward the next century of the Nagoya Journal of Medical Science: message from the Editor-in-chief
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Severe neurodevelopmental disorder caused by an MEF2C nonsense mutation
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Histone deacetylase 1 and 2 drive differentiation and fusion of progenitor cells in human placental trophoblasts.
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Extensive multiple organ involvement in VEXAS syndrome
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Deficiency of 3-hydroxybutyrate dehydrogenase (BDH1) in mice causes low ketone body levels and fatty liver during fasting.
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Replicative capacity of SARS-CoV-2 omicron variants BA.5 and BQ.1.1 at elevated temperatures
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The MEK Inhibitor Trametinib Suppresses Major Histocompatibility Antigen-mismatched Rejection Following Pancreatic Islet Transplantation
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The 100th anniversary of the Nagoya Journal of Medical Science: a message from the Dean
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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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Successful dupilumab treatment for ichthyotic and atopic features of Netherton syndrome
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Response to correspondence concerning “Association between kidney function and intracerebral hematoma volume”
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Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers
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Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
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Flame-like Calcifications in Werner Syndrome
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Pneumonia Caused by Severe Acute Respiratory Syndrome Coronavirus 2 and Influenza Virus: A Multicenter Comparative Study
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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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Seropositivity for SARS-CoV-2 in a general population: how specific is the diagnostic?
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Incontinentia pigmenti in a female infant with somatic mosaicism due to the IKBKG variant
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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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Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing
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Recurrent palmoplantar pustulosis at the site of insertion of therapeutic titanium
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Congenital cholesteatoma assessment based on staging and classification criteria for middle ear cholesteatoma proposed by the Japan Otological Society
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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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Long Time Constant May Endorse Sharp Waves and Spikes Than Sharp Transients in Scalp Electroencephalography: A Comparison of Both After-Slow Among Different Time Constant and High-Frequency Activity Analysis
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A novel endoscopy training system by video-based asynchronous communication
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Chaperone-Mediated Autophagy Suppresses Apoptosis via Regulation of the Unfolded Protein Response during Chronic Obstructive Pulmonary Disease Pathogenesis
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Osborn Wave Is Related to Ventricular Fibrillation and Tachycardia in Hypothermic Patients
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Extreme genetic signatures of local adaptation during Lotus japonicus colonization of Japan.
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Oropharyngeal pleomorphic adenoma causing complete airway obstruction and cardiopulmonary arrest
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The Actions of Orphan Nuclear Receptor RORgamma on Hepatic Cholesterol Metabolism in Piglets
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A Biomarker for Benign Adult Familial Myoclonus Epilepsy: High-Frequency Activities in Giant Somatosensory Evoked Potentials
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Underestimation of Trisomy 18 and 13 Syndromes in Vital Statistics from Inadequate Death Certificates.
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Correction to: Anatomy of active volcanic edifice at the Kusatsu–Shirane volcano, Japan, by magnetotellurics: hydrothermal implications for volcanic unrests
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Letter to Editor about "A Case of Appendiceal Mucocele due to Low-grade Appendiceal Mucinous Neoplasm Correctly Differentiated from Acute Appendicitis Based on Diffusion-weighted Imaging and the Apparent Diffusion Coefficient Value (JJMRM 2020; 40: 14-19)".
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Upregulation of IGF2R evades lysosomal dysfunction-induced apoptosis of cervical cancer cells via transport of cathepsins (本文)
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Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42
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Successful treatment of tetanus with magnesium in a dialysis patient
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A Novel CD135⁺ Subset of Mouse Monocytes with a Distinct Differentiation Pathway and Antigen-Presenting Properties
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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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Long-term risk of cancer development among anti-Th/To antibody–positive systemic sclerosis patients: comment on the article by Mecoli et al
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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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Propofol elicits apoptosis and attenuates cell growth in esophageal cancer cell lines