NANS, N-acetylneuraminate synthase, 54187

N. diseases: 153; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Spondyloepimetaphyseal dysplasia, Genevieve type
0.700 GermlineCausalMutation disease ORPHANET NANS-mediated synthesis of sialic acid is required for brain and skeletal development. 27213289 2016
Spondyloepimetaphyseal dysplasia, Genevieve type
0.700 GeneticVariation disease UNIPROT NANS-mediated synthesis of sialic acid is required for brain and skeletal development. 27213289 2016
Spondyloepimetaphyseal dysplasia, Genevieve type
0.700 Biomarker disease GENOMICS_ENGLAND NANS-mediated synthesis of sialic acid is required for brain and skeletal development. 27213289 2016
Spondyloepimetaphyseal dysplasia, Genevieve type
0.700 CausalMutation disease CLINVAR
Spondyloepimetaphyseal dysplasia, Genevieve type
0.700 Biomarker disease CTD_human
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental
0.300 Biomarker group CTD_human NANS-mediated synthesis of sialic acid is required for brain and skeletal development. 27213289 2016
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities
0.300 Biomarker group CTD_human NANS-mediated synthesis of sialic acid is required for brain and skeletal development. 27213289 2016
CUI: C0085996
Disease: Child Development Deviations
Child Development Deviations
0.300 Biomarker disease CTD_human NANS-mediated synthesis of sialic acid is required for brain and skeletal development. 27213289 2016
Child Development Disorders, Specific
0.300 Biomarker disease CTD_human NANS-mediated synthesis of sialic acid is required for brain and skeletal development. 27213289 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Enforced expression of TMEM207 abrogated the binding of WWOX to HIF-1α, increased HIF-1α and GLUT-1 expression, even under normoxic conditions, and promoted tumour growth in a xenoplant assay using SAS tongue squamous cancer cells. 29164763 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Combined treatment of CDHP and CDDP significantly suppressed the growth of SAS and HSC2 cells <i>in vitro</i> and that of tumors <i>in vivo</i> compared with the effects caused by single drug only or control treatments. 28927087 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE SEMA3F shows growth inhibitory activity in SAS and HSC2 cells and may act as a tumor suppressor. 29299034 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE <i>In vivo</i>, we found that hcc49scFv-FasL drastically reduced the formation of lymph node metastasis and decreased primary tumor growth in SAS orthotopic and subcutaneous xenograft tumor models. 28292939 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Moreover, cRGD-CDDP/m rapidly accumulated into the lymph node metastasis of SAS-L1 tumors, effectively inhibiting their growth, and prolonging mice survival. 28666729 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE In <i>in vitro</i> cultured human OSCC cells (OECM1 and SAS) were employed to test the inhibitory growth of HCD via cell cytotoxic effect using 3-(4, 5-dimethylthiazol-2-yl)-2, 5-diphenyltetrazolium bromide (MTT) assay, Western blotting, and further determining of the inhibitory efficacy of tumor growth by a xenograft tumor on BALB/c male nude mice (<i>in vivo</i> test). 29108236 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Accordingly, honokiol dose-dependently inhibited the growth of SAS SP xenograft and markedly reduced the immunohistochemical staining of PCNA and endothelial marker CD31 in the xenograft tumor. 27012679 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE According to their basal HIF-1α status, the tumor cell lines were divided into low (SAS, XF354, FaDu, A549, CX-), intermediate (EPLC-272H, BHY), and high (H1339) HIF-1α expressors. 22318330 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE SAS/neo tumor cells, especially intratumor Q cell populations, showed a marked reduction in sensitivity due to the repair of radiation-induced damage, compared with the total or Q cell populations within SAS/mp53 tumors that showed little repair capacity. 17982649 2007
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE SAS/mp53 tumors showed larger values for the size of not only the HF but also the diffusion-limited chronically HF than SAS/neo tumors. 15380594 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE In this study, the efficacy of gene transduction and the tumor-cell killing effect on four human oral (SAS, HSC-2, HSC-3, HSC-4) and one murine squamous cell carcinoma cell (SCC-7, a kind gift of Dr. M. Hiraoka, Kyoto University) lines in vitro with Ad vector conjugated with catioic liposome (Ad/SUV) was evaluated. 12798404 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Apoptotic cells were more frequently observed in SAS/neo tumors than in SAS/mp53 tumors in X-ray irradiation but not in C-beam irradiation. 12174881 2002
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE SAS and CDK4 genes were found to be amplified fourfold in two Grade II tumors and in one dedifferentiated tumor. 10943202 2000
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Using 146 DNA samples derived from a variety of bone and soft tissue tumors, we have studied the pattern of amplification of these three genes, CDK4, MDM2, and SAS, to investigate whether there are any tumor type specific patterns of amplification. 9703873 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE It occurs in 15% of glioblastomas and almost always includes the CDK4 and SAS genes, in about 10% of tumors the MDM2 gene, and at lower frequency GLI, GADD153, and A2MR. 8586464 1995
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE These observations demonstrate that SAS amplification occurs with a significant frequency in mesenchymal tumors and is particularly associated with abdominal disease. 1319830 1992