「ATM suppresses c-Myc overexpression in the mammary epithelium in response to estrogen」の関連論文
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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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An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome
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Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency
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卵巣低異型度漿液性癌のin vitro発癌モデル
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BRCA1 haploinsufficiency promotes chromosomal amplification under Fenton reaction-based carcinogenesis through ferroptosis-resistance
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Polo-like kinase 4 and stromal antigen 3 are not associated with recurrent pregnancy loss caused by embryonic aneuploidy
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Evolutionary histories of breast cancer and related clones
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Efficacious Combination Drug Treatment for Colorectal Cancer that Overcomes Resistance to KRAS G12C Inhibitors
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The landscape of genetic aberrations in myxofibrosarcoma
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Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency
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Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes
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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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HER2 G776S mutation promotes oncogenic potential in colorectal cancer cells when accompanied by loss of APC function
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Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants
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Zscan5b deficiency impairs DNA damage response and causes chromosomal aberrations during mitosis (本文)
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Wilson’s disease model establishment from human induced pluripotent stem cells
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Hippo-TAZ signaling is the master regulator of the onset of triple-negative basal-like breast cancers
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Hes1 is essential in proliferating ductal cell-mediated development of intrahepatic cholangiocarcinoma
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Reverse Genetic Studies on Mitochondrial tRNA-related Disorders
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Two sporadic cases of childhood-onset Hailey-Hailey disease with superimposed mosaicism
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Prognostic impact of TP53INP1 gene expression in estrogen receptor α-positive breast cancer patients
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Molecular genetic study of the FMR1 CGG repeat configurations in the Japanese population and patients with Fragile X-Associated Tremor/Ataxia Syndrome
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An autopsy case of primary gliosarcoma with multiple extracranial metastases: pathology after administration of bevacizumab and genetic profile
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Clinical and genetic features of cystic fibrosis in Japan
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UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes
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Phosphorylation of the anaphase promoting complex activator FZR1/CDH1 is required for meiosis II entry in mouse male germ cell (本文)
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Frequent PIK3CA mutations in eutopic endometrium of patients with ovarian clear cell carcinoma
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Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis
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Immunohistochemically Detected Expression of ATRX, TSC2, and PTEN Predicts Clinical Outcomes in Patients With Grade 1 and 2 Pancreatic Neuroendocrine Tumors
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Genomic stability of mouse spermatogonial stem cells in vitro
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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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A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism
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Trp53 Mutation in Keratin 5 (Krt5)-Expressing Basal Cells Facilitates the Development of Basal Squamous-Like Invasive Bladder Cancer in the Chemical Carcinogenesis of Mouse Bladder
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ATM suppresses c-Myc overexpression in the mammary epithelium in response to estrogen
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Genetic screening for malignant hyperthermia and comparison of clinical symptoms in Japan
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Genetic screening for malignant hyperthermia and comparison of clinical symptoms in Japan
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Impairment of DYRK2 by DNMT1-mediated transcription augments carcinogenesis in human colorectal cancer
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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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De Novo T790M Mutation in an L858R Epidermal Growth Factor Receptor Mutant-Associated Lung Adenocarcinoma
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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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Two effects of GATA2 enhancer repositioning by 3q chromosomal rearrangements.
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Neoadjuvant chemotherapy promotes the expression of HER3 in patients with ovarian cancer
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ミスマッチ修復機能欠損のtype2子宮体癌における免疫チェックポイント阻害剤の有用性の検討
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Identification and monitoring of mutations in circulating cell-free tumor DNA in hepatocellular carcinoma treated with lenvatinib
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Identification and monitoring of mutations in circulating cell-free tumor DNA in hepatocellular carcinoma treated with lenvatinib
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Amplified EPOR/JAK2 Genes Define a Unique Subtype of Acute Erythroid Leukemia
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Studies on DNA methylation changes in canine malignant melanoma [an abstract of entire text]
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Screening for Lynch syndrome using risk assessment criteria in patients with ovarian cancer (本文)
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Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism
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4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay