「An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome」の関連論文
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Improvement of mouse genome editing protocol and the application:investigation of the physiological roles of glycine receptor alpha 4 subunit.
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De Novo T790M Mutation in an L858R Epidermal Growth Factor Receptor Mutant-Associated Lung Adenocarcinoma
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Homozygous variant p.Ser427Pro in PNPLA1 is a preventive factor from atopic dermatitis
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An experience in prenatal diagnosis via QF-PCR of a female child with a 9.9 Mb pure deletion at 18p11.32–11.22
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BRCA1 haploinsufficiency promotes chromosomal amplification under Fenton reaction-based carcinogenesis through ferroptosis-resistance
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Oncogenic FGFR1 mutation and amplification in common cellular origin in a composite tumor with neuroblastoma and pheochromocytoma
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Genome-wide association study of serum prostate-specific antigen levels based on 1000 Genomes imputed data in Japanese : the Japan Multi-Institutional Collaborative Cohort Study
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Paraproteinemia and neuropathy
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Elderly patient with 5q spinal muscular atrophy type 4 markedly improved by Nusinersen
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Studies on Cytotoxic Effects of Tumor Necrosis Factor-Related Apoptosis Inducing Ligand (TRAIL) to Canine Cell Lines Derived from Hemangiosarcoma and Mammary Epithelial Tumor
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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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Genetic insights into the dissolution of dioecy in diploid persimmon Diospyros oleifera Cheng
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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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All reported non-canonical splice site variants in GLA cause aberrant splicing
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Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19
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Analysis of aging-related epigenetic modifications in murine male germline cells
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An old model with new insights: endogenous retroviruses drive the evolvement toward ASD susceptibility and hijack transcription machinery during development
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Clinical and serological features of dermatomyositis and systemic lupus erythematosus patients with autoantibodies to ADAR1
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Reduced stratum corneum acylceramides in autosomal recessive congenital ichthyosis with a NIPAL4 mutation
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The Natural History of Spontaneously Occurred Endometriosis in Cynomolgus Monkeys by Monthly Follow-Up Laparoscopy for Two Years.
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Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemia
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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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A case of eosinophilic polyangiitis with granulomatosis that evolved to cardiac arrest due to advanced atrioventricular block
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MicroRNA profiling in adults with high-functioning autism spectrum disorder
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Genomic analysis for the prediction of prognosis in small-bowel cancer
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Genomic analysis for the prediction of prognosis in small-bowel cancer
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Study on Accessory Gene Regulator(AGR)Variants in Staphylococcus aureus
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Chemosensitivity of Patient-Derived Cancer Stem Cells Identifies Colorectal Cancer Patients with Potential Benefit from FGFR Inhibitor Therapy
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Studies on Peripheral Blood mMDSC Based-Biomarker Exploration and a Novel Therapeutic Agent for Cancer Immunotherapy
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Collective fusion activity determines neurotropism of an en bloc transmitted enveloped virus
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Immunobiochemical, molecular biological, and reverse genetical studies on vitellogenin receptor candidates in medaka, Oryzias latipes [an abstract of entire text]
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Cooperative participation of epigenomic and genomic alterations in the clinicopathological diversity of gastric adenocarcinomas : significance of cell adhesion and epithelial–mesenchymal transition-related signaling pathways (本文)
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A cerebrospinal fluid microRNA analysis: Progressive supranuclear palsy
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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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Ovarian Leydig cell tumour diagnosis in a postmenopausal woman with uterine bleeding : a case report and literature review.
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Genome-wide association study of IgA nephropathy using 23 465 microsatellite markers in a Japanese population
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Downregulation of lncRNA PVT1 inhibits proliferation and migration of mesothelioma cells by targeting FOXM1
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Downregulation of lncRNA PVT1 inhibits proliferation and migration of mesothelioma cells by targeting FOXM1
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BMP and activin membrane-bound inhibitor (BAMBI) regulates mesothelioma cell proliferation and clinical outcome
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BMP and activin membrane-bound inhibitor (BAMBI) regulates mesothelioma cell proliferation and clinical outcome
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Sequencing of selected chromatin remodelling genes reveals increased burden of rare missense variants in ASD patients from the Japanese population
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Role of metabolic and endocrine factors in an alteration of the endometrial epidermal growth factor concentration in repeat breeder dairy cows
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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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Simple, Frequent Indicator for Personal Identification-Postmortem and Antemortem Abdominal Computed Tomography Findings of a Charred Body.
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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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Generation of two human induced pluripotent stem cell lines derived from two X-linked adrenoleukodystrophy patients with ABCD1 mutations
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PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan
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Bmal1 Regulates Prostate Growth via Cell-Cycle Modulation
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Evolutionary changes in gene expression profiles associated with coevolution of the male and female genitalia in a ground beetle group