「Unexpected appearance of KMT2A::MLLT10 fusion transcript in acute myeloid leukemia with t(5;11)(q31;q23.3)」の関連論文
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Cryptic insertion of CBFB into MYH11 leading to a type D fusion in acute myeloid leukemia with normal karyotype
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RUNX1 rearrangement in mature B-cell acute lymphoblastic leukemia with non-L3 morphology
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Two effects of GATA2 enhancer repositioning by 3q chromosomal rearrangements.
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Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia
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Identification of novel mutations and reassignment of archival xeroderma pigmentosum group C cell strains from Japanese patients
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Long-Read Sequence Confirmed a Large Deletion Including MYH6 and MYH7 in an Infant of Atrial Septal Defect and Atrial Arrhythmias.
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EVI1 and GATA2 misexpression induced by inv(3)(q21q26) contribute to megakaryocyte-lineage skewing and leukemogenesis.
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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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Biclonal Diffuse Large B-cell Lymphoma Commonly Characterized by Partial Trisomy 18q Involving MALT1 and BCL2
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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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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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Increased CaV1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly
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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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Autism-associated mutation in Hevin/Sparcl1 induces endoplasmic reticulum stress through structural instability
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ILF2 enhances the DNA cytosine deaminase activity of tumor mutator APOBEC3B in multiple myeloma cells
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Incontinentia pigmenti in a female infant with somatic mosaicism due to the IKBKG variant
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Branchpoints as potential targets of exon-skipping therapies for genetic disorders
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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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HER2 G776S mutation promotes oncogenic potential in colorectal cancer cells when accompanied by loss of APC function
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Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing
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Characterization of FLOWERING LOCUS C 5 in Brassica rapa L.
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Studies on multifunctional genome elements functioning in mouse spermatogenesis [an abstract of entire text]
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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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A RUNX-targeted gene switch-off approach modulates the BIRC5/PIF1-p21 pathway and reduces glioblastoma growth in mice
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Pitfalls in establishing mouse model of female infertility by immunization with human centromere protein
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Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy
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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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成獣ライディッヒ細胞における性染色体の機能解析
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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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Functional analysis of P53 negative regulators in Bombyx mori
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Identification of a novel uterine leiomyoma GWAS locus in a Japanese population (本文)
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Lionheart LincRNA alleviates cardiac systolic dysfunction under pressure overload
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Acyl-CoA synthetase 6 regulates long-chain polyunsaturated fatty acid composition of membrane phospholipids in spermatids and supports normal spermatogenic processes in mice
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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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Characterization of an active LINE-1 in the naked mole-rat genome.
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Prognostic stratification for IDH-wild-type lower-grade astrocytoma by Sanger sequencing and copy-number alteration analysis with MLPA
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Identification of T cell receptors targeting a neoantigen derived from recurrently mutated FGFR3
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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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BRCA1 haploinsufficiency promotes chromosomal amplification under Fenton reaction-based carcinogenesis through ferroptosis-resistance
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Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency
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Identification of distinct loci for de novo DNA methylation by DNMT3A and DNMT3B during mammalian development
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Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
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Inventory and Evolution of Mitochondrion-localized Family A DNA Polymerases in Euglenozoa
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Tsga8 is required for spermatid morphogenesis and male fertility in mice
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Setd1a plays pivotal roles for the survival and proliferation of retinal progenitors via histone modifications of Uhrf1
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Protective role of residual Tet2/Tet3 alleles in development of myeloid leukemia
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Clinical and serological features of dermatomyositis and systemic lupus erythematosus patients with autoantibodies to ADAR1
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Prickle2 and Igsf9b coordinately regulate the cytoarchitecture of the axon initial segment
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Development of binary vector systems for promoter assay and expression analysis of AtMLLR genes in Arabidopsis thaliana