「Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42」の関連論文
-
Network-guided analysis of hippocampal proteome identifies novel proteins that colocalize with Aβ in a mice model of early-stage Alzheimer’s disease
-
Increased CaV1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly
-
Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings
-
Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings
-
Autism-associated mutation in Hevin/Sparcl1 induces endoplasmic reticulum stress through structural instability
-
Pitfalls in establishing mouse model of female infertility by immunization with human centromere protein
-
Incontinentia pigmenti in a female infant with somatic mosaicism due to the IKBKG variant
-
Disrupted Cav1.2 Selectivity Causes Overlapping Long QT and Brugada Syndrome Phenotypes in CACNA1C-E1115K iPS Cell Model
-
Unique reticular hyperkeratotic eruptions seen in a patient with Darier's disease and attention deficit hyperactivity disorder
-
Novel Breast Cancer Brain Metastasis Patient-Derived Orthotopic Xenograft Model for Preclinical Studies
-
Tsga8 is required for spermatid morphogenesis and male fertility in mice
-
Generation of Footprint-Free Canine Induced Pluripotent Stem Cells from Peripheral Blood Mononuclear Cells Using Sendai Virus Vector
-
Squamous Cell Carcinoma at the Site of Cutaneous Lymphoid Hyperplasia
-
Perampanel Inhibits α-Synuclein Transmission in Parkinson’s Disease Models
-
Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing
-
Severe neurodevelopmental disorder caused by an MEF2C nonsense mutation
-
Inhibition of microRNA-33b specifically ameliorates abdominal aortic aneurysm formation via suppression of inflammatory pathways
-
CD4/CD8 double-negative T-cell lymphoma successfully treated with a combination of bexarotene and total skin electron beam therapy
-
Instability of non-REM sleep in older women evaluated by sleep-stage transition and envelope analyses
-
Pathogenic mutation of TDP-43 impairs RNA processing in a cell type-specific manner : implications for the pathogenesis of ALS/FTLD (本文)
-
Neuroinflammation in neurodegenerative disease
-
Identification of novel mutations and reassignment of archival xeroderma pigmentosum group C cell strains from Japanese patients
-
Clinical and serological features of dermatomyositis and systemic lupus erythematosus patients with autoantibodies to ADAR1
-
Evaluation of the Effectiveness of Xanthine Oxidoreductase Inhibitors on Haemodialysis Patients using a Marginal Structural Model
-
Systematic analysis on the seeding activity of familial mutant forms of α-synuclein
-
Exacerbation of epilepsy by astrocyte alkalization and gap junction uncoupling.
-
HER2 G776S mutation promotes oncogenic potential in colorectal cancer cells when accompanied by loss of APC function
-
Cellular senescence in white matter microglia is induced during ageing in mice and exacerbates the neuroinflammatory phenotype
-
Koebner phenomenon seen in a case of drug-induced granular C3 dermatosis
-
Muscarinic signaling regulates voltage-gated potassium channel KCNQ2 phosphorylation in the nucleus accumbens via protein kinase C for aversive learning
-
Prickle2 and Igsf9b coordinately regulate the cytoarchitecture of the axon initial segment
-
Characteristics of cortical spreading depression and c-Fos expression in transgenic mice having a mutation associated with familial hemiplegic migraine 2 (本文)
-
Spontaneous regression of hidroacanthoma simplex after skin biopsy
-
Serial Myocardial Native T1 Assessment for Prediction of LV Functional Recovery in Recent-Onset DCM: A Comparison with Histology
-
A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease
-
Calcium-Binding Protein S100A4 Is Upregulated in Carotid Atherosclerotic Plaques and Contributes to Expansive Remodeling
-
Dynamic changes in ultrastructure of the primary cilium in migrating neuroblasts in the postnatal brain
-
Blood-cerebrospinal fluid barrier: another site disrupted during experimental cerebral malaria caused by Plasmodium berghei ANKA
-
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
-
CDK5/p35-dependent microtubule reorganization contributes to homeostatic shortening of the axon initial segment
-
Pfkfb3とPdk4遺伝子による骨格筋のATP産生におけるオスが好む解糖系とメスが好む脂肪酸の利用
-
Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
-
Thiopurine Use During Pregnancy Has Deleterious Effects on Offspring in Nudt15 R138C Knock-In Mice.
-
Cardiovascular and renal outcomes with SGLT-2 inhibitors versus GLP-1 receptor agonists in patients with type 2 diabetes mellitus and chronic kidney disease: a systematic review and network meta-analysis
-
Ferroptosis resistance determines high susceptibility of murine A/J strain to iron-induced renal carcinogenesis
-
A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells
-
A Biomarker for Benign Adult Familial Myoclonus Epilepsy: High-Frequency Activities in Giant Somatosensory Evoked Potentials
-
Diagnostic ability of artificial intelligence using deep learning analysis of cyst fluid in differentiating malignant from benign pancreatic cystic lesions
-
Pluripotent stem cell model of Shwachman-Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitors
-
TDO2 Overexpression Is Associated with Cancer Stem Cells and Poor Prognosis in Esophageal Squamous Cell Carcinoma