「All reported non-canonical splice site variants in GLA cause aberrant splicing」の関連論文
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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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Identification of the ultrahigh-risk subgroup in neuroblastoma cases through DNA methylation analysis and its treatment exploiting cancer metabolism
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Clinical impact of detecting low-frequency variants in cell-free DNA on treatment of castration-resistant prostate cancer
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Conserved Double Translation Initiation Site for Δ160p53 Protein Hints at Isoform’s Key Role in Mammalian Physiology
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The ocular involvement did not accompany with the genital ulcer or the gastrointestinal symptoms at the early stage Behcet’s disease
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Analyses of genetic and retinal lesions in Ccdc85c knockout rats: a rat model of genetic hydrocephalus
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A clinical and genetic study of SPG31 in Japan
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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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Lack of association between seropositivity of vasculopathy-related viruses and moyamoya disease
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Identification and characterization of substrates crosslinked by transglutaminases in liver and kidney fibrosis
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Studies on Circadian Clock RNA Methylation and Micturition Rhythm
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Eighteen-years follow-up of congenital hypothyroidism by TSHR gene p.Arg109Gln and p.Arg450His variants
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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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Studies on multifunctional genome elements functioning in mouse spermatogenesis [an abstract of entire text]
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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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Genome-wide association studies on hepatocellular carcinoma after eradication of hepatitis C virus in Japanese and on chronic hepatitis B in Thai
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Characterisation of an Escherichia coli line that completely lacks ribonucleotide reduction yields insights into the evolution of parasitism and endosymbiosis
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Conformational change of RNA‐helicase DHX30 by ALS/FTD‐linked FUS induces mitochondrial dysfunction and cytosolic aggregates
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Differentiation of hypertrophic chondrocytes from human iPSCs for the in vitro modeling of chondrodysplasias
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Congenital Dysfibrinogenemia Presented with Massive Hematomas Formed after Hysterectomy
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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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RNA Sequencing of Medusavirus Suggests Remodeling of the Host Nuclear Environment at an Early Infection Stage
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Robust and efficient knock-in in embryonic stem cells and early-stage embryos of the common marmoset using the CRISPR-Cas9 system (本文)
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Genetic and Epigenetic Pathogenesis of Acromegaly
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Alternative transcription start sites of the enolase-encoding gene enoA are stringently used in glycolytic/gluconeogenic conditions in Aspergillus oryzae
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Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo
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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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Exploring the landscape of ectodomain shedding by quantitative protein terminomics
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RIL-StEp: epistasis analysis of rice recombinant inbred lines (RILs) reveals candidate interacting genes that control seed hull color and leaf chlorophyll content
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Immunohistochemical assessment of sex-determining region Y (SRY)-related high mobility group (HMG)-box 2 (Sox2) and Krüppel-like factor 4 (Klf4) in ameloblastomas
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Identification of Virus Receptors
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Screening method for congenital dysfibrinogenemia using clot waveform analysis with the Clauss method
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Characterization of FLOWERING LOCUS C 5 in Brassica rapa L.
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Functional studies of the egg cortical alveolus proteases on fertilization of medaka
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Networking and Specificity-Changing DNA Methyltransferases in Helicobacter pylori.
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The role of GPNMB ectodomain in breast cancer development
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Insertion of ten amino acids into 13S globulin zero-repeat subunit improves trypsin digestibility in common buckwheat (Fagopyrum esculentum Moench) seeds
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Avoiding entry into intracellular protein degradation pathways by signal mutations increases protein secretion in Pichia pastoris
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CEBPγ facilitates lamellipodia formation and cancer cell migration through CERS6 upregulation
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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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Functional analysis of Rab7D small GTPase of Entamoeba histolytica
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Combination of RERG and ZNF671 methylation rates in circulating cell-free DNA: A novel biomarker for screening of nasopharyngeal carcinoma
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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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Evolutional transition of HBV genome during the persistent infection determined by single-molecule real-time sequencing
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A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease
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Amplified EPOR/JAK2 Genes Define a Unique Subtype of Acute Erythroid Leukemia
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A two-step screening to optimize the signal response of an auto-fluorescent protein-based biosensor
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TEAD1 trapping by the Q353R–Lamin A/C causes dilated cardiomyopathy
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Observing the nonvectorial yet cotranslational folding of a multidomain protein, LDL receptor, in the ER of mammalian cells.
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Genome-scale CRISPR/Cas9 screening for gemcitabine modulators in pancreatic cancer