Abdominal Pain
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Abnormal behavior
|
0.030 |
GeneticVariation
|
phenotype |
BEFREE |
The current study examined the interactive effects of TCF4 and AKT1 variants with gender, family history of psychiatric disorders and ethnicity on the AAO of schizophrenia.
|
27305091 |
2016 |
Abnormal behavior
|
0.030 |
Biomarker
|
phenotype |
BEFREE |
Our novel findings indicate that TCF4-dependent transcription directs the proper formation of prefrontal cortical minicolumns by regulating the expression of genes involved in early spontaneous neuronal activity, and thus our results provides insights into potential pathophysiological mechanisms of TCF4-associated psychiatric disorders.
|
28289282 |
2018 |
Abnormal behavior
|
0.030 |
Biomarker
|
phenotype |
BEFREE |
We sequenced BCAs in patients with autism or related NDDs, revealing disruption of 33 loci in four general categories: (1) genes previously associated with abnormal neurodevelopment (e.g., AUTS2, FOXP1, and CDKL5), (2) single-gene contributors to microdeletion syndromes (MBD5, SATB2, EHMT1, and SNURF-SNRPN), (3) novel risk loci (e.g., CHD8, KIRREL3, and ZNF507), and (4) genes associated with later-onset psychiatric disorders (e.g., TCF4, ZNF804A, PDE10A, GRIN2B, and ANK3).
|
22521361 |
2012 |
Abnormal coordination
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Abnormal large intestine physiology
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Abnormal palate morphology
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Absence Seizures
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.
|
18728071 |
2008 |
Absent speech
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Absent speech
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Accessory nipple
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Accessory nipple
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Acrocyanosis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Acute lymphocytic leukemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
This identified 52 somatic non-synonymous mutations in 32 genes, many of which were novel, including the transcriptional coactivators CREBBP and NCOR1, the transcription factors ERG, SPI1, TCF4 and TCF7L2, components of the Ras signalling pathway, histone genes, genes involved in histone modification (CREBBP and CTCF), and genes previously shown to be targets of recurring DNA copy number alteration in ALL.
|
21390130 |
2011 |
Adenocarcinoma
|
0.010 |
Biomarker
|
group |
BEFREE |
IHC revealed nuclear TCF4 in all adenocarcinoma samples, whereas only 36 % depicted nuclear LEF1 and nuclear β-catenin signals.
|
23224985 |
2013 |
Adenocarcinoma of large intestine
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Adenocarcinoma of lung (disorder)
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Additionally, we generated a LEF1/TCF4 as well as an AXIN2 signature, the latter as representative of WNT/β-catenin activity, following a bioinformatics approach with a gene expression dataset of cerebral metastases in lung adenocarcinoma.
|
23224985 |
2013 |
Adenoma
|
0.030 |
Biomarker
|
group |
BEFREE |
The TCF4-binding regions significantly correlate with Wnt-responsive gene expression profiles derived from primary human adenomas and often behave as beta-catenin/TCF4-dependent enhancers in transient reporter assays.
|
18268006 |
2008 |
Adenoma
|
0.030 |
Biomarker
|
group |
BEFREE |
Knockout of TCF-4 suppresses growth and maintenance of crypt stem cells, whereas knockout of TCF-1 leads to adenomas.
|
19749792 |
2009 |
Adenoma
|
0.030 |
AlteredExpression
|
group |
BEFREE |
Levels of β-catenin, cMyc, and ITF2 were increased in areas of human colon adenomas and carcinomas, compared with nontumor areas of the same tissues.
|
24846398 |
2014 |
Adenomatous Polyposis Coli
|
0.060 |
AlteredExpression
|
disease |
BEFREE |
The activation of the pathway was mainly due to the mutation of adenomatous polyposis coli (APC) or beta-catenin, and Tcf-4 was highly expressed in these cell lines with upregulated signaling.
|
12460462 |
2002 |
Adenomatous Polyposis Coli
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Expression of APC N1026S in SW480 and DLD-1 cells did not diminish beta-catenin/Tcf-4-mediated transcription as effectively as APC wild-type.
|
18166348 |
2008 |
Adenomatous Polyposis Coli
|
0.060 |
Biomarker
|
disease |
BEFREE |
A proportion of APC wild-type colon carcinomas and melanomas also contains constitutive nuclear Tcf-4/beta-catenin complexes as a result of dominant mutations in the N terminus of beta-catenin that render it insensitive to downregulation by APC, GSK3 beta, and Axin/Conductin.
|
10549354 |
2000 |
Adenomatous Polyposis Coli
|
0.060 |
AlteredExpression
|
disease |
BEFREE |
Human cancers with beta-catenin regulatory defects had elevated ITF-2 expression, and ITF-2 was repressed by restoring wild-type APC function or inhibiting TCF activity.
|
12086873 |
2002 |
Adenomatous Polyposis Coli
|
0.060 |
AlteredExpression
|
disease |
BEFREE |
In colon carcinoma cells, loss of APC leads to the accumulation of betacatenin in the nucleus, where it binds to and activates the Tcf-4 transcription factor (reviewed in [1] [2]).
|
10021369 |
1999 |