「Sequencing of selected chromatin remodelling genes reveals increased burden of rare missense variants in ASD patients from the Japanese population」の関連論文
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Real-life progression of the use of a genetic panel in to diagnose neonatal cholestasis
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Down syndrome-related transient abnormal myelopoiesis is attributed to a specific erythro-megakaryocytic subpopulation with GATA1 mutation
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BRCA1 haploinsufficiency promotes chromosomal amplification under Fenton reaction-based carcinogenesis through ferroptosis-resistance
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Analysis of aging-related epigenetic modifications in murine male germline cells
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A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells
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Minor allele of GJA1 gene polymorphism is associated with higher heart rate during atrial fibrillation
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Minor allele of GJA1 gene polymorphism is associated with higher heart rate during atrial fibrillation
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Homozygous variant p.Ser427Pro in PNPLA1 is a preventive factor from atopic dermatitis
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Lionheart LincRNA alleviates cardiac systolic dysfunction under pressure overload
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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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The relationship between DRD2 Taq1A polymorphism and white matter structure in healthy young adults.
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A genome-wide association study identifying single nucleotide polymorphisms in the PPFIBP2 gene was predictive for interstitial lung disease in rheumatoid arthritis patients
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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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Clinical and serological features of dermatomyositis and systemic lupus erythematosus patients with autoantibodies to ADAR1
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RUNX1 rearrangement in mature B-cell acute lymphoblastic leukemia with non-L3 morphology
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Identification of distinct loci for de novo DNA methylation by DNMT3A and DNMT3B during mammalian development
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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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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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CRISPR/Cas9-based genome editing in mice uncovers 13 testis- or epididymis-enriched genes individually dispensable for male reproduction
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Reverse Genetic Studies on Mitochondrial tRNA-related Disorders
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Functional analysis of P53 negative regulators in Bombyx mori
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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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Studies on multifunctional genome elements functioning in mouse spermatogenesis [an abstract of entire text]
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Analyses of genetic and retinal lesions in Ccdc85c knockout rats: a rat model of genetic hydrocephalus
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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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Pitfalls in establishing mouse model of female infertility by immunization with human centromere protein
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Prickle2 and Igsf9b coordinately regulate the cytoarchitecture of the axon initial segment
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Molecular analysis of drug resistance associating gene mutations in Mycobacterium tuberculosis clinical isolates in Nepal [an abstract of entire text]
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Two effects of GATA2 enhancer repositioning by 3q chromosomal rearrangements.
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Clinicopathological significance of EGFR pathway gene mutations and CRTC1/3–MAML2 fusions in salivary gland mucoepidermoid carcinoma
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Variation of body weight and seasonal reproduction in populations from different latitudes: genetic analyses using wild-derived medaka fish
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Wilson’s disease model establishment from human induced pluripotent stem cells
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FGF5 and EPAS1 gene polymorphisms are associated with high-altitude adaptation in Nepalese goat breeds
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A possible link between ages of older fathers and the white matter aberrations found in autism spectrum disorder
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Contribution of different evolutionary patterns to human sapovirus intra-host diversity
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Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease
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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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Genome-wide Survival Analysis for Macular Neovascularization Development in Central Serous Chorioretinopathy Revealed Shared Genetic Susceptibility with Polypoidal Choroidal Vasculopathy
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Evolutionary genetics of socioemotional behavior in humans and other mammals
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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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Identification of a multiresistant mosaic plasmid carrying a new segment of IS1216E-flanked optrA with integrated Tn551-ermB element in linezolid-resistant Enterococcus faecalis human isolate
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A proteome signature of umbilical cord serum associated with congenital diaphragmatic hernia
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MDM4 as a prognostic factor for patients with gastric cancer with low expression of p53:immunohistochemical study of p53, MDM2, and MDM4
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Branchpoints as potential targets of exon-skipping therapies for genetic disorders
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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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Association of two variable number of tandem repeats in the monoamine oxidase A gene promoter with suicide completion: The present study and meta-analysis
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Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants
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Neural Isoforms of Agrin Are Generated by Reduced PTBP1−RNA Interaction Network Spanning the Neuron−Specific Splicing Regions in AGRN
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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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Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease