「Mutation spectrum and health status in skeletal muscle channelopathies in Japan」の関連論文
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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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Regional spread of three distinct genotypes of Mycoplasma pneumoniae and different timing of macrolide-resistant strain appearance among genotypes between 2011 and 2013 in Yamagata, Japan
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Evolutionary histories of breast cancer and related clones
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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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Hes1 is essential in proliferating ductal cell-mediated development of intrahepatic cholangiocarcinoma
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Active role of the central amygdala in widespread mechanical sensitization in rats with facial inflammatory pain
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Malfunctioning CD106-positive, short-term hematopoietic stem cells trigger diabetic neuropathy in mice by cell fusion.
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α-Synuclein BAC transgenic mice exhibit RBD-like behaviour and hyposmia: a prodromal Parkinson’s disease model
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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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Differentiation of hypertrophic chondrocytes from human iPSCs for the in vitro modeling of chondrodysplasias
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Impairment of DYRK2 by DNMT1-mediated transcription augments carcinogenesis in human colorectal cancer
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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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Studies on the role of leucine and mTOR signaling in skeletal muscle physiology
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MDGA1-deficiency attenuates prepulse inhibition with alterations of dopamine and serotonin metabolism : An ex vivo HPLC-ECD analysis
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Study on the Function of α-Defensin, Paneth cell-secreted Antimicrobial Peptide, as a Regulator of Intestinal Ecological System under Psychological Stress
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Temporal arteritis with focal pachymeningitis: a deceptive association
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Identifying Potentially Beneficial Genetic Mutations Associated with Monophyletic Selective Sweep and a Proof-of-Concept Study with Viral Genetic Data
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SMN promotes mitochondrial metabolic maturation during myogenesis by regulating the MYOD-miRNA axis
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Functional and genomic characterization of patient-derived xenograft model to study adaptation to mTORC1 inhibitor in clear cell renal cell carcinoma
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Clinical characteristics of Corynebacterium simulans
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Frequent PIK3CA mutations in eutopic endometrium of patients with ovarian clear cell carcinoma
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A case of Erdheim–Chester disease with the BRAF V600E mutation diagnosed via endoscopic sinus surgery
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Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction
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Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemia
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Pcgf1 gene disruption reveals primary involvement of epigenetic mechanism in neuronal subtype specification in the enteric nervous system
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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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Tumour-immune microenvironment in duodenal-type follicular lymphoma
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Site-directed mutagenesis study of host and viral proteins : single nucleotide variants of human TBK1 and functional sites of ebolavirus VP35
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Studies on the molecular pathogenesis and the novel disease-associated genes in dogs with inflammatory colorectal polyps [an abstract of entire text]
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Development of a molecular tool for the differentiation of Mycobacterium bovis and molecular characterization of Mycobacterium bovis isolates in Malawi
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Case report of a ventricular fibrillation storm with a cardiac conduction disorder and HCN4 variant 18 years after ablation of atrial flutter
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Transplantation of human iPS cell-derived airway cells on vitrigel membrane into rat nasal cavity
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A case of localized tracheobronchial relapsing polychondritis with positive matrilin-1 staining.
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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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Pathological mechanisms in Crohn’s disease via dysbiosis triggered by Paneth cell α-defensin misfolding
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Molecular characterization of Staphylococcus aureus isolated from skin infection
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Molecular characterization of Staphylococcus aureus isolated from skin infection
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Functional properties of iminosugar 1-deoxynojirimycin: main focus on its insulin-sensitizing effect for maintenance of healthy metabolic and brain functions
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Studies on the pathological mechanism of alopecia areata in C3H/HeJ mouse model
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Risk factors for cisplatin-induced acute kidney injury: A pilot study on the usefulness of genetic variants for predicting nephrotoxicity in clinical practice
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Novel Therapeutic Impact of Isorhamnetin for the Upstream Treatment of Atrial Fibrillation
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Usefulness of interleukin-18 as a diagnostic biomarker to differentiate adult-onset Still’s disease with/without macrophage activation syndrome from other secondary hemophagocytic lymphohistiocytosis in adults
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Molecular and pathologic characterization of avian adenovirus isolated from the oviducts of laying hens in eastern Japan
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Optical measurement of gating pore currents in hypokalemic periodic paralysis model cells
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Potential role of administration of menaquinone-4 and its chemically related compound for neuroinflammatory modulation
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Analysis of the clinical features of Japanese patients with primary ciliary dyskinesia
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Medial prefrontal area reductions, altered expressions of cholecystokinin, parvalbumin, and activating transcription factor 4 in the corticolimbic system, and altered emotional behavior in a progressive rat model of type 2 diabetes
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Medial prefrontal area reductions, altered expressions of cholecystokinin, parvalbumin, and activating transcription factor 4 in the corticolimbic system, and altered emotional behavior in a progressive rat model of type 2 diabetes