「Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemia」の関連論文
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Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemia
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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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Wilson’s disease model establishment from human induced pluripotent stem cells
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UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes
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Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitor
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A Case with Iron Deficiency Anemia Developed Aplastic Crisis
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An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome
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Lack of impact of the ALDH2 rs671 variant on breast cancer development in Japanese BRCA1/2‐mutation carriers
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Dilated cardiomyopathy-linked heat shock protein family D member 1 mutations cause up-regulation of reactive oxygen species and autophagy through mitochondrial dysfunction (本文)
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Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency
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Human induced pluripotent stem cells generated from a patient with idiopathic basal ganglia calcification
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FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients
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Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism
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Reverse Genetic Studies on Mitochondrial tRNA-related Disorders
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Case report: Late middle-aged features of FAM111A variant, Kenny–Caffey syndrome type 2-suggestive symptoms during a long follow-up
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Paraproteinemia and neuropathy
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A clinical and genetic study of SPG31 in Japan
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Myelodysplastic syndrome with trisomy 8 presenting periodic fever and multiple MEFV gene variants outside exon 10: a case report
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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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Two sporadic cases of childhood-onset Hailey-Hailey disease with superimposed mosaicism
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Generation of two human induced pluripotent stem cell lines derived from two X-linked adrenoleukodystrophy patients with ABCD1 mutations
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Congenital goitrous hypothyroidism is caused by dysfunction of the iodide transporter SLC26A7
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Eighteen-years follow-up of congenital hypothyroidism by TSHR gene p.Arg109Gln and p.Arg450His variants
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Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant
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Lusutrombopag effectively promotes the growth and differentiation of megakaryocytic cells from patients with myelodysplastic syndrome
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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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Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing
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Failure of internal fixation for ankle joint Charcot neuroarthropathy with beta(2)-microglobulin amyloidosis: a case report
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Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
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Case of osteopetrosis with multiple impacted primary and permanent teeth diagnosed at eight years old
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Lack of association between seropositivity of vasculopathy-related viruses and moyamoya disease
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BRCA1 haploinsufficiency promotes chromosomal amplification under Fenton reaction-based carcinogenesis through ferroptosis-resistance
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Congenital Dysfibrinogenemia Presented with Massive Hematomas Formed after Hysterectomy
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Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo
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Automated screening procedure for the phenotypes of congenital fibrinogen disorders using novel parameters, |min1|c and Ac/|min1|c, obtained from clot waveform analysis using the Clauss method
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Study of the Effects of Inhibition of Epigenetic Regulators on the Proliferation of Hematological Malignant Tumor Cells
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Prophylactic treatment of rapamycin ameliorates naturally developing and episode -induced heterotopic ossification in mice expressing human mutant ACVR1
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DNA methyltransferase 3B plays a protective role against hepatocarcinogenesis caused by chronic inflammation via maintaining mitochondrial homeostasis
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Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease
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Impairment of DYRK2 by DNMT1-mediated transcription augments carcinogenesis in human colorectal cancer
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Pluripotent stem cell model of Shwachman-Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitors
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Two effects of GATA2 enhancer repositioning by 3q chromosomal rearrangements.
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Hereditary Congenital Methemoglobinemia Diagnosed at the Age of 79 Years: A Case Report
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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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Novel SLC30A2 mutations in the pathogenesis of transient neonatal zinc deficiency
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Myh9 R702C is associated with erythroid abnormality with splenomegaly in mice
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4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay
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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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Disease modeling of pulmonary fibrosis using human pluripotent stem cell-derived alveolar organoids