Noonan Syndrome
|
0.200 |
Biomarker
|
disease |
MGD |
|
|
|
Eye Abnormalities
|
0.300 |
Biomarker
|
group |
CTD_human |
Apaf1 (CED-4 homolog) regulates programmed cell death in mammalian development.
|
9753320 |
1998 |
Skin Abnormalities
|
0.300 |
Biomarker
|
group |
CTD_human |
Apaf1 (CED-4 homolog) regulates programmed cell death in mammalian development.
|
9753320 |
1998 |
Craniofacial Abnormalities
|
0.300 |
Biomarker
|
group |
CTD_human |
Apaf1 (CED-4 homolog) regulates programmed cell death in mammalian development.
|
9753320 |
1998 |
Craniofacial Abnormalities
|
0.300 |
Biomarker
|
group |
CTD_human |
Apaf1-deficient mice exhibited reduced apoptosis in the brain and striking craniofacial abnormalities with hyperproliferation of neuronal cells.
|
9753321 |
1998 |
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
These studies did not disclose the expected tumor related alterations but led instead to the identification of three novel forms of Apaf-1.
|
10441496 |
1999 |
Lymphoma
|
0.030 |
Biomarker
|
group |
BEFREE |
Therefore, cDNAs coding for Apaf-1 were examined in six lymphoma derived cell lines, in three non-lymphoid tumor cell lines, as well as in peripheral blood lymphocytes and in tissue from heart, kidney, and liver by RT-PCR.
|
10441496 |
1999 |
Adult Lymphoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
Therefore, cDNAs coding for Apaf-1 were examined in six lymphoma derived cell lines, in three non-lymphoid tumor cell lines, as well as in peripheral blood lymphocytes and in tissue from heart, kidney, and liver by RT-PCR.
|
10441496 |
1999 |
Childhood Lymphoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
Therefore, cDNAs coding for Apaf-1 were examined in six lymphoma derived cell lines, in three non-lymphoid tumor cell lines, as well as in peripheral blood lymphocytes and in tissue from heart, kidney, and liver by RT-PCR.
|
10441496 |
1999 |
Germ cell tumor
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis of the APAF1 gene in male germ cell tumors.
|
10862031 |
2000 |
Gastrointestinal Carcinoid Tumor
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
RT-PCR and Western blot analysis showed APAF1 gene expression at detectable levels in all GCT cell lines analyzed.
|
10862031 |
2000 |
Visual seizure
|
0.200 |
Biomarker
|
disease |
RGD |
Formation of the Apaf-1/cytochrome c complex precedes activation of caspase-9 during seizure-induced neuronal death.
|
11753565 |
2001 |
melanoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Inactivation of the apoptosis effector Apaf-1 in malignant melanoma.
|
11196646 |
2001 |
melanoma
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
Subsequently others have also shown that caspase-8 is silenced by methylation in neuroblastoma and peripheral neural ectodermal tumors, and that the caspase-9 regulator Apaf-1 is silenced by methylation in melanoma cell lines and patient samples.
|
11511973 |
2001 |
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Apaf-1 loss may contribute to the low frequency of p53 mutations observed in this highly chemoresistant tumour type.
|
11196646 |
2001 |
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Expression of Apaf-1 and caspase-9 in tumors may be an important determinant of the therapeutic effect of irradiation in cancer treatment.
|
11410874 |
2001 |
Malignant Neoplasms
|
0.070 |
Biomarker
|
group |
BEFREE |
This review has a double aim: the analysis of the alternatives taken by the embryo to bring into the suicidal program different cells at different stages, and the relevance of APAF1 in the onset and progression of cancer.
|
11706994 |
2001 |
Primary malignant neoplasm
|
0.060 |
Biomarker
|
group |
BEFREE |
This review has a double aim: the analysis of the alternatives taken by the embryo to bring into the suicidal program different cells at different stages, and the relevance of APAF1 in the onset and progression of cancer.
|
11706994 |
2001 |
leukemia
|
0.040 |
Biomarker
|
disease |
BEFREE |
Apaf-1 deficiency may constitute a significant mode of resistance to apoptosis in human leukemia.
|
11435311 |
2001 |
Parkinson Disease
|
0.030 |
Biomarker
|
disease |
BEFREE |
These results indicate that delivery of Apaf-1-DN by using an AAV vector system can prevent nigrostriatal degeneration in MPTP mice, suggesting that it could be a promising therapeutic strategy for patients with Parkinson's disease.
|
11535810 |
2001 |
Protein Deficiency
|
0.020 |
Biomarker
|
disease |
BEFREE |
Apaf-1 protein deficiency confers resistance to cytochrome c-dependent apoptosis in human leukemic cells.
|
11435311 |
2001 |
Malignant neoplasm of ovary
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
These data suggest that regulation of APAF-1 activity may be important for apoptosis regulation in some ovarian cancers.
|
11429402 |
2001 |
Malignant transformation
|
0.020 |
GeneticVariation
|
phenotype |
BEFREE |
Moreover, APAF1 is mutated in human melanomas, and its depletion contributes to malignant transformation in a mouse model of cancer.
|
11706994 |
2001 |
Congenital Abnormality
|
0.010 |
GeneticVariation
|
group |
BEFREE |
These findings are strongly suggestive of the fog mutation being a hypomorphic Apaf-1 defect and implicate neural progenitor cell death in the pathogenesis of spina bifida-a common human congenital malformation.
|
11504943 |
2001 |
Spina Bifida
|
0.010 |
Biomarker
|
disease |
BEFREE |
These findings are strongly suggestive of the fog mutation being a hypomorphic Apaf-1 defect and implicate neural progenitor cell death in the pathogenesis of spina bifida-a common human congenital malformation.
|
11504943 |
2001 |