「Disrupted Cav1.2 Selectivity Causes Overlapping Long QT and Brugada Syndrome Phenotypes in CACNA1C-E1115K iPS Cell Model」の関連論文
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Increased CaV1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly
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Pluripotent stem cell model of Shwachman-Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitors
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Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42
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ERRγ enhances cardiac maturation with T-tubule formation in human iPSC-derived cardiomyocytes
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Autism-associated mutation in Hevin/Sparcl1 induces endoplasmic reticulum stress through structural instability
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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
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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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Prickle2 and Igsf9b coordinately regulate the cytoarchitecture of the axon initial segment
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Down syndrome-related transient abnormal myelopoiesis is attributed to a specific erythro-megakaryocytic subpopulation with GATA1 mutation
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SARS-CoV-2 spike receptor-binding domain is internalized and promotes protein ISGylation in human induced pluripotent stem cell-derived cardiomyocytes
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Establishment of a heart‐on‐a‐chip microdevice based on human iPS cells for the evaluation of human heart tissue function
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Lionheart LincRNA alleviates cardiac systolic dysfunction under pressure overload
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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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ERRγ agonist under mechanical stretching manifests hypertrophic cardiomyopathy phenotypes of engineered cardiac tissue through maturation
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Gut contractile organoids: a novel model system to study the cellular synchronization in gastrointestinal motility
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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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Smooth muscle protein 22α‐Cre recombination in resting cardiac fibroblasts and hematopoietic precursors
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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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N-Acetylcysteine prevents amyloid-β secretion in neurons derived from human pluripotent stem cells with trisomy 21
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Inhibition of microRNA-33b specifically ameliorates abdominal aortic aneurysm formation via suppression of inflammatory pathways
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Characteristics of cortical spreading depression and c-Fos expression in transgenic mice having a mutation associated with familial hemiplegic migraine 2 (本文)
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Analyses of genetic and retinal lesions in Ccdc85c knockout rats: a rat model of genetic hydrocephalus
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Malfunctioning CD106-positive, short-term hematopoietic stem cells trigger diabetic neuropathy in mice by cell fusion.
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Recapitulation of pro-inflammatory signature of monocytes with ACVR1A mutation using FOP patient-derived iPSCs
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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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BRCA1 haploinsufficiency promotes chromosomal amplification under Fenton reaction-based carcinogenesis through ferroptosis-resistance
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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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Identification of novel mutations and reassignment of archival xeroderma pigmentosum group C cell strains from Japanese patients
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Differentiation of hypertrophic chondrocytes from human iPSCs for the in vitro modeling of chondrodysplasias
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Gene Editing in Murine Hematopoietic Stem Cells Using a Novel Ex Vivo Expansion System
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Myelin protein zero (P0)- and Wnt1-Cre marked muscle resident neural crest-derived mesenchymal progenitor cells give rise to heterotopic ossification in mouse models
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Re-generation of cytotoxic γδT cells with distinctive signatures from human γδT-derived iPSCs
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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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Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing
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Pitfalls in establishing mouse model of female infertility by immunization with human centromere protein
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Systematic analysis on the seeding activity of familial mutant forms of α-synuclein
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A Flp-dependent G-CaMP9a transgenic mouse for neuronal imaging in vivo
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Open channel block of Kv1.5 channels by HMQ1611
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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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Osteogenic cocktail induces calcifications in human breast cancer cell line via placental alkaline phosphatase expression.
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Orai1–STIM1 Regulates Increased Ca²⁺ Mobilization, Leading to Contractile Duchenne Muscular Dystrophy Phenotypes in Patient-Derived Induced Pluripotent Stem Cells
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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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Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemia
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Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo
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Bioengineering and Cell-derived Strategies for Salivary Gland Regeneration
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A Potent CD1d-binding Glycolipid for iNKT-Cell-based Therapy Against Human Breast Cancer.
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Cryptotanshinone is a candidate therapeutic agent for interstitial lung disease associated with a BRICHOS-domain mutation of SFTPC
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iPSC-derived type IV collagen α5-expressing kidney organoids model Alport syndrome