「Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19」の関連論文
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Identification and Characterization of Zn2+-Dependent DNAzymes
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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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Monotreme-Specific Conserved Putative Proteins Derived from Retroviral Reverse Transcriptase
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TEAD1 trapping by the Q353R–Lamin A/C causes dilated cardiomyopathy
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CEBPγ facilitates lamellipodia formation and cancer cell migration through CERS6 upregulation
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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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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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A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism
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Small molecule-based detection of non-canonical RNA G-quadruplex structures that modulate protein translation
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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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Sarcomatoid mesothelioma diagnosed in a patient with mesothelioma in situ: a case report on morphologic differences after 9-month interval with details analysis of cytology in early-stage mesothelioma
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PML-RARαはMED1との結合を介して全トランス型レチノイン酸依存性の転写活性化を誘導する
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Real-world application of next-generation sequencing-based test for surgically resectable colorectal cancer in clinical practice (本文)
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A case of Erdheim–Chester disease with the BRAF V600E mutation diagnosed via endoscopic sinus surgery
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Molecular Mechanism of Quinclorac Resistance in Multiple-Herbicide Resistant Echinochloa phyllopogon
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Telomere-to-telomere genome assembly of an allotetraploid pernicious weed, Echinochloa phyllopogon
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Study of the recognition of G-quadruplex DNA by human ORC protein
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Comparative Plastid Genomics of Green-Colored Dinoflagellates Unveils Parallel Genome Compaction and RNA Editing
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Autism-associated mutation in Hevin/Sparcl1 induces endoplasmic reticulum stress through structural instability
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Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease
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Quantitation of Residual Host Cell DNA in Recombinant Adeno-Associated Virus Using Droplet Digital Polymerase Chain Reaction
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Characterization of an active LINE-1 in the naked mole-rat genome.
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Congenital Dysfibrinogenemia Presented with Massive Hematomas Formed after Hysterectomy
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Distinctive roles of syntaxin binding protein 4 and its action target, TP63, in lung squamous cell carcinoma: a theranostic study for the precision medicine
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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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Pluripotent stem cell model of Shwachman-Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitors
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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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Patient-derived ovarian cancer organoids capture the genomic profiles of primary tumours applicable for drug sensitivity and resistance testing (本文)
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6. Life Science and Medical Science
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A novel structural maintenance of chromosomes (SMC)-related protein family specific to Archaea
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A simple method that enhances minority species detection in the microbiota: 16S metagenome-DRIP (Deeper Resolution using an Inhibitory Primer)
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Human induced pluripotent stem cells generated from a patient with idiopathic basal ganglia calcification
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Increased CaV1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly
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Gut contractile organoids: a novel model system to study the cellular synchronization in gastrointestinal motility
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Studies on Circadian Clock RNA Methylation and Micturition Rhythm
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Evolutionary genetics of socioemotional behavior in humans and other mammals
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FGF5 and EPAS1 gene polymorphisms are associated with high-altitude adaptation in Nepalese goat breeds
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Clinical and serological features of dermatomyositis and systemic lupus erythematosus patients with autoantibodies to ADAR1
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Genome-wide association study and HLA fine-mapping for childhood steroid-sensitive nephrotic syndrome in the Japanese population
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Transposon delivery for CRISPR-based loss-of-function screen in mice identifies NF2 as a cooperating gene involved with the canonical WNT signaling molecular class of hepatocellular carcinoma
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Screening method for congenital dysfibrinogenemia using clot waveform analysis with the Clauss method
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Identification and characterization of substrates crosslinked by transglutaminases in liver and kidney fibrosis
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Inhibition of cyclooxygenase-1 by nonsteroidal anti-inflammatory drugs demethylates MeR2 enhancer and promotes Mbnl1 transcription in myogenic cells
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Population genetics of variants in infectious diseases and its application to the prediction of variant replacement
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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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Identification of T cell receptors targeting a neoantigen derived from recurrently mutated FGFR3
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ILF2 enhances the DNA cytosine deaminase activity of tumor mutator APOBEC3B in multiple myeloma cells
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A novel orexin antagonist from a natural plant was discovered using zebrafish behavioural analysis
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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