|
Congenital central hypoventilation
|
0.610 |
GeneticVariation
|
disease |
BEFREE |
Thus, HASH-1 mutations may contribute to the CCHS phenotype in rare cases, consistent with the view that the abnormal chemical control of breathing observed in CCHS patients is due to the impairment of noradrenergic neurons during early steps of brainstem development.
|
14532329 |
2003 |
|
Congenital central hypoventilation
|
0.610 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Congenital central hypoventilation
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Congenital central hypoventilation
|
0.610 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
CCHS WITH HIRSCHSPRUNG DISEASE
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
CCHS WITH HIRSCHSPRUNG DISEASE
|
0.500 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Small cell carcinoma of lung
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Our findings suggest that TTF-1 promotes SCLC growth and contributes to neuroendocrine and antiapoptotic gene expression by partly coordinating with ASCL1.
|
31782890 |
2020 |
|
Small cell carcinoma of lung
|
0.400 |
Biomarker
|
disease |
BEFREE |
The association between 103 SNPs in 58 ASCL1 target genes and the response to chemotherapy and survival of patients with SCLC were analyzed.
|
31691490 |
2020 |
|
Small cell carcinoma of lung
|
0.400 |
Biomarker
|
disease |
BEFREE |
Pharmacological co-targeting of ASCL1 and IGF-1R results in markedly synergistic effects in ASCL1<sup>High</sup> SCLC in vitro and in mouse models.
|
31324758 |
2019 |
|
Small cell carcinoma of lung
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
This study aimed to investigate the expression of DLL3 and ASCL1 in resected SCLC samples using immunohistochemical analysis.
|
31068386 |
2019 |
|
Small cell carcinoma of lung
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Several lines of evidence, from SCLC primary human tumours, patient-derived xenografts, cancer cell lines and genetically engineered mouse models, appear to be converging on a new model of SCLC subtypes defined by differential expression of four key transcription regulators: achaete-scute homologue 1 (ASCL1; also known as ASH1), neurogenic differentiation factor 1 (NeuroD1), yes-associated protein 1 (YAP1) and POU class 2 homeobox 3 (POU2F3).
|
30926931 |
2019 |
|
Small cell carcinoma of lung
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Wnt11 controlled NE differentiation, cell proliferation, and E-cadherin expression under the regulation of Ascl1 in SCLC cell lines.
|
31231131 |
2019 |
|
Small cell carcinoma of lung
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Three correspond to known subtypes (SCLC-A, SCLC-N, and SCLC-Y), while the fourth is a previously undescribed ASCL1+ neuroendocrine variant (NEv2, or SCLC-A2).
|
31671086 |
2019 |
|
Small cell carcinoma of lung
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
In particular, the delta-like protein 3 (DLL3), a Notch inhibitory ligand whose expression is directly related to the key neuroendocrine transcription factor ASCL1, was found to be expressed in ~85% of SCLCs, while it exhibits minimal to absent surface expression in normal lungs.
|
30968324 |
2019 |
|
Small cell carcinoma of lung
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Here, we found that exposure to the selective LSD1 inhibitor ORY-1001 activated the NOTCH pathway, resulting in the suppression of the transcription factor ASCL1 and the repression of SCLC tumorigenesis.
|
30723171 |
2019 |
|
Small cell carcinoma of lung
|
0.400 |
Biomarker
|
disease |
BEFREE |
Amiloride inhibited growth of ASCL1-dependent SCLC more strongly than ASCL1-independent SCLC in vitro and slowed growth of ASCL1-driven SCLC in xenografts.
|
29413762 |
2018 |
|
Small cell carcinoma of lung
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our findings shine light on a regulatory axis in SCLC consisting of ASCL1/TTF-1/NFIB that potentially contributes to the tumourigenesis of SCLC.
|
29876935 |
2018 |
|
Small cell carcinoma of lung
|
0.400 |
Biomarker
|
disease |
BEFREE |
IMPDH inhibition reduced RNA polymerase I-dependent expression of pre-ribosomal RNA and potently suppressed ASCL1<sup>Low</sup> cell growth in culture, selectively reduced growth of ASCL1<sup>Low</sup> xenografts, and combined with chemotherapy to improve survival in genetic mouse models of ASCL1<sup>Low</sup>/MYC<sup>High</sup> SCLC.
|
30043754 |
2018 |
|
Small cell carcinoma of lung
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The proneural factor, ASCL1, was specifically up-regulated in SCLC which is known to have a neuroendocrine phenotype.
|
29866045 |
2018 |
|
Small cell carcinoma of lung
|
0.400 |
Biomarker
|
disease |
BEFREE |
In a case-control cohort matched for basic clinical factors, expression of ProGRP, synaptophysin, chromogranin A, and ASCL1 was significantly decreased in TTF-1-negative SCLC samples.
|
29787820 |
2018 |
|
Small cell carcinoma of lung
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The Shh signaling pathway activates INSM1 expression through N-myc and Ascl1 in aggressive SCLC.
|
29501727 |
2018 |
|
Small cell carcinoma of lung
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Nuclear ASCL1 expression was present in SCLC but absent or barely present in adenocarcinoma in 7 cases.
|
30429033 |
2018 |
|
Small cell carcinoma of lung
|
0.400 |
Biomarker
|
disease |
BEFREE |
On the other hand, achaete-scute complex homologue 1 (ASCL1), negatively regulated by Notch signaling, is a lineage-specific gene of SCLC, and functions to promote neuroendocrine differentiation as well as EMT.
|
27785690 |
2017 |
|
Small cell carcinoma of lung
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
High expression of the inhibitory Notch ligand Delta-like protein 3 (DLL3) in most SCLCs has been linked to expression of Achaete-scute homologue 1 (ASCL1; also known as ASH-1), a key transcription factor driving SCLC oncogenesis; encouraging preclinical and clinical activity has been demonstrated for an anti-DLL3-antibody-drug conjugate.
|
28534531 |
2017 |
|
Small cell carcinoma of lung
|
0.400 |
Biomarker
|
disease |
BEFREE |
In addition, we also observed ASCL1 governed functional networks that are distinct to glioma and SCLC.
|
28742165 |
2017 |