NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 CausalMutation disease CGI
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 PosttranslationalModification disease BEFREE Comparing with the alterations at 9q33 to 34.2 regions, LOH at 9q34.3 and methylation of the Notch1 gene was less involved in oral squamous cell carcinomas. 17305639 2007
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 AlteredExpression disease LHGDN In contrast, marked Notch 1 staining was observed in extragenital Bowen's disease as well as in genital (penile) human papilloma virus-related in situ and invasive squamous cell carcinomas. 18192969 2008
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 Biomarker disease BEFREE In contrast, marked Notch 1 staining was observed in extragenital Bowen's disease as well as in genital (penile) human papilloma virus-related in situ and invasive squamous cell carcinomas. 18192969 2008
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 AlteredExpression disease BEFREE In a chemical genetics screen for small molecule activators of Notch signalling, we identified epidermal growth factor receptor (EGFR) as a key negative regulator of Notch1 gene expression in primary human keratinocytes, intact epidermis and skin squamous cell carcinomas (SCCs). 18604200 2008
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 AlteredExpression disease LHGDN In a chemical genetics screen for small molecule activators of Notch signalling, we identified epidermal growth factor receptor (EGFR) as a key negative regulator of Notch1 gene expression in primary human keratinocytes, intact epidermis and skin squamous cell carcinomas (SCCs). 18604200 2008
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 AlteredExpression disease BEFREE These observations suggest that downregulation of Notch1 in oral SCC may be associated with upregulation of EGFR signalling. 19398252 2010
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 AlteredExpression disease BEFREE In addition, Notch1 and Srcasm protein and transcript levels were decreased in human SCCs compared with nonlesional epidermis. 19934324 2009
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 AlteredExpression disease BEFREE These results suggest that DeltaNp63alpha maintains the self-renewing capacity of normal human keratinocytes and cervical cancer cells partly through transcriptional repression of the Notch1 gene and imply a novel pathogenetical significance of frequently observed overexpression of DeltaNp63alpha together with p53 inactivation in SCCs. 20442293 2010
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 AlteredExpression disease BEFREE We conclude that Notch1 expression is associated with cell aggressiveness and 5-FU drug resistance in human esophageal squamous cell carcinoma cell lines in vitro and is significantly associated with a poor survival in human esophageal squamous cell carcinomas. 23409141 2013
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 GeneticVariation disease BEFREE Common and complex Notch1 mutations in Chinese oral squamous cell carcinoma. 24277457 2014
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 Biomarker disease BEFREE Exome sequencing (n=50) and recurrence testing (n=60) reveals that some significantly and frequently altered genes are specific to OSCC-GB (USP9X, MLL4, ARID2, UNC13C and TRPM3), while some others are shared with HNSCC (for example, TP53, FAT1, CASP8, HRAS and NOTCH1). 24292195 2013
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 Biomarker disease BEFREE This molecular circuitry may inform distinct cell fate decisions to Notch1 in epithelial tissues, where carcinomas such as SCC arise. 24525741 2014
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 GeneticVariation disease BEFREE Downmodulation or loss-of-function mutations of the gene encoding NOTCH1 are associated with dysfunctional squamous cell differentiation and development of squamous cell carcinoma (SCC) in skin and internal organs. 24743148 2014
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 AlteredExpression disease BEFREE We used small interfering RNA (siRNA) technology to down-regulate the expression of Notch1 in small cell lung carcinoma (SCLC) cells; H69AR and SBC-3, as well as in non-small cell lung carcinoma (NSCLC) cells; A549 adenocarcinoma (ADC) and H2170 squamous cell carcinoma (SCC). 24888228 2014
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 GeneticVariation disease BEFREE Frequent mutations in NOTCH1 ligand-binding regions in Japanese oral squamous cell carcinoma. 25234595 2014
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 Biomarker disease BEFREE Epidermal growth factor receptor inhibition reduces angiogenesis via hypoxia-inducible factor-1α and Notch1 in head neck squamous cell carcinoma. 25723392 2015
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 AlteredExpression disease BEFREE Lysyl oxidase-like 2 represses Notch1 expression in the skin to promote squamous cell carcinoma progression. 25759215 2015
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 GeneticVariation disease BEFREE Moreover, based on accumulating structural information of the NOTCH receptor, the functional consequences of NOTCH1 gene mutations identified from diverse SCCs are analyzed, emphasizing loss of function of Notch in these cancers. 27228302 2016
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 Biomarker disease BEFREE Expression of p53, p16, cyclin D1, epidermal growth factor receptor and Notch1 in patients with temporal bone squamous cell carcinoma. 27488595 2017
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 Biomarker disease BEFREE Notch1 in oral squamous cell carcinoma. 27615693 2017
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 Biomarker disease CTD_human Whole-Exome Sequencing Validates a Preclinical Mouse Model for the Prevention and Treatment of Cutaneous Squamous Cell Carcinoma. 27923803 2017
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 AlteredExpression disease BEFREE We found that mRNA high expression level of Notch1 was associated with better overall survival (OS) for all NSCLC patients, hazard ratio (HR) 0.78 (0.69-0.89), p=0.00019, better OS in adenocarcinoma (Ade) patients, HR 0.59 (0.46-0.75), p=1.5e-05, as well as in squamous cell carcinoma (SCC) patients, HR 0.78 (0.62-0.99), p=0.044. mRNA high expression levels of Notch2 and Notch3 were associated with worsen OS for all NSCLC patients, as well as in Ade, but not in SCC patients. mRNA high expression level of Notch4 was not found to be associated with to OS for all NSCLC patients. 28061457 2017
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 AlteredExpression disease BEFREE Otherwise, patients with squamous cell carcinoma had relative higher expression of Notch1 and Notch3 expression (<i>p</i> = 0.014 and <i>p</i> = 0.032, respectively). 28607605 2017
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 Biomarker disease BEFREE A mutation in NOTCH1 ligand binding region detected in patients with oral squamous cell carcinoma reduces NOTCH1 oncogenic effect. 28791383 2017