「Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemia」の関連論文
-
Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes
-
Enhanced osteoclastogenesis in patients with MSMD due to impaired response to IFN-γ
-
Enhanced osteoclastogenesis in patients with MSMD due to impaired response to IFN-γ
-
Beneficial screening of Fabry disease in patients with hypohidrosis
-
A case of Cockayne syndrome with unusually mild clinical manifestations
-
Clinical and genetic features of cystic fibrosis in Japan
-
Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing
-
Inhibition of autophagy in theca cells induces CYP17A1 and PAI-1 expression via ROS/p38 and JNK signalling during the development of polycystic ovary syndrome
-
Activation of the pentose phosphate pathway in macrophages is crucial for granuloma formation in sarcoidosis
-
Study of Mitochonic Acid 5 to improve neuromuscular dysfunction associated with aging and diseases using C. elegans
-
Prenatal diagnosis of severe mitochondrial disease caused by nuclear gene defects: a study in Japan
-
Differentiation of hypertrophic chondrocytes from human iPSCs for the in vitro modeling of chondrodysplasias
-
Mutation spectrum and health status in skeletal muscle channelopathies in Japan
-
Reduced stratum corneum acylceramides in autosomal recessive congenital ichthyosis with a NIPAL4 mutation
-
Studies on DNA methylation changes in canine malignant melanoma [an abstract of entire text]
-
A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism
-
Paraneoplastic isolated adrenocorticotropic hormone deficiency revealed after immune checkpoint inhibitors therapy: new insights into anti-corticotroph antibody
-
Clinical efficacy of the combined treatment of anti-PD-L1 rat-bovine chimeric antibody with a COX-2 inhibitor in calves infected with Mycoplasma bovis
-
Analyses of genetic and retinal lesions in Ccdc85c knockout rats: a rat model of genetic hydrocephalus
-
Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease
-
Suppression of Systemic Lupus Erythematosus in NZBWF1 mice infected with Hymenolepis microstoma
-
Amplified EPOR/JAK2 Genes Define a Unique Subtype of Acute Erythroid Leukemia
-
Malfunctioning CD106-positive, short-term hematopoietic stem cells trigger diabetic neuropathy in mice by cell fusion.
-
Chemical biological studies for the development of drug seeds for Parkinson's disease (本文)
-
Tenascin C Aggravates Autoimmune Myocarditis via Dendritic Cell Activation and Th17 Cell Differentiation
-
Endogenous Fructose Metabolism Could Explain the Warburg Effect and the Protection of SGLT2 Inhibitors in Chronic Kidney Disease.
-
Acquired dysfibrinogenemia: monoclonal λ-type IgA binding to fibrinogen caused lower functional plasma fibrinogen level and abnormal clot formation
-
Hes1 is essential in proliferating ductal cell-mediated development of intrahepatic cholangiocarcinoma
-
Analysis of Anti-metabolic Syndrome Effect of Kaempferol in TSOD Mice
-
iPSC-derived type IV collagen α5-expressing kidney organoids model Alport syndrome
-
Downregulation of endothelial nitric oxide synthase (eNOS) and endothelin-1 (ET-1) in a co-culture system with human stimulated X-linked CGD neutrophils
-
Downregulation of endothelial nitric oxide synthase (eNOS) and endothelin-1 (ET-1) in a co-culture system with human stimulated X-linked CGD neutrophils
-
Identification of novel mutations and reassignment of archival xeroderma pigmentosum group C cell strains from Japanese patients
-
The association of thyroglobulin single nucleotide polymorphism with miniature dachshunds-specific inflammatory colorectal polyps and its involvement in interleukin-6 amplifier induced chronic inflammation
-
Genetic and Epigenetic Pathogenesis of Acromegaly
-
All reported non-canonical splice site variants in GLA cause aberrant splicing
-
Interactions of amyloid coaggregates with biomolecules and its relevance to neurodegeneration
-
Expansion of gastric intestinal metaplasia with copy number aberrations contributes to field cancerization
-
Studies on the acceleration of renal decline in rat models of diabetic kidney disease
-
A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease
-
Compromised anti-tumor–immune features of myeloid cell components in chronic myeloid leukemia patients
-
Improvement in semen parameters by switching steroids in a male congenital adrenal hyperplasia patient with severe oligozoospermia
-
難治性低カルシウム・低リン血症をきっかけにFGF23高値を指摘された前立腺癌多発骨転移の1例
-
Differentiation of Hypertrophic Chondrocytes from Human iPSCs for the In Vitro Modeling of Chondrodysplasias
-
De Novo T790M Mutation in an L858R Epidermal Growth Factor Receptor Mutant-Associated Lung Adenocarcinoma
-
Screening method for congenital dysfibrinogenemia using clot waveform analysis with the Clauss method
-
Biclonal Gammopathy as a Misleading Indicator to Diagnose POEMS Syndrome: An Autopsy Case Report and a Review of the Literature
-
Successful Management of Refractory Autoimmune Hemolytic Anemia with Cold Agglutinin Disease with Splenectomy: A Case Report with Review of Literature
-
Studies on the pathological mechanism of alopecia areata in C3H/HeJ mouse model
-
Optimized sonoreactor for accelerative amyloid-fibril assays through enhancement of primary nucleation and fragmentation