|
NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS
|
0.500 |
Biomarker
|
disease |
MGD |
Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation.
|
28453519 |
2017 |
|
NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation.
|
28453519 |
2017 |
|
NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS
|
0.500 |
Biomarker
|
disease |
MGD |
GEF-H1 controls microtubule-dependent sensing of nucleic acids for antiviral host defenses.
|
24270516 |
2014 |
|
Intellectual Disability
|
0.120 |
GeneticVariation
|
group |
BEFREE |
We identified, by means of whole exome sequencing, a homozygous frameshift mutation in the ARHGEF2 as a cause of intellectual disability, a midbrain-hindbrain malformation, and mild microcephaly in a consanguineous pedigree of Kurdish-Turkish descent.
|
28453519 |
2017 |
|
Intellectual Disability
|
0.120 |
Biomarker
|
group |
BEFREE |
Collybistin (CB), a neuron-specific Rho-GEF responsible for X-linked intellectual disability with epilepsy, also interacts with eIF3, and its binding partner gephyrin associates with mTOR.
|
25898924 |
2016 |
|
Intellectual Disability
|
0.120 |
Biomarker
|
group |
HPO |
|
|
|
|
Adenocarcinoma
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Once a broad tumor class is established, more specific differentiation markers can be pursued (e.g., lineage-restricted transcription factors for adenocarcinoma; p40 for squamous cell carcinoma; chromogranin A and synaptophysin or INSM1 for neuroendocrine neoplasms).
|
31786484 |
2020 |
|
Squamous cell carcinoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Once a broad tumor class is established, more specific differentiation markers can be pursued (e.g., lineage-restricted transcription factors for adenocarcinoma; p40 for squamous cell carcinoma; chromogranin A and synaptophysin or INSM1 for neuroendocrine neoplasms).
|
31786484 |
2020 |
|
Crohn Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Ustekinumab (UST) is an antibody to the p40 subunit of interleukins 12 and 23 in Crohn's disease (CD) patients.
|
31722356 |
2020 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Once a broad tumor class is established, more specific differentiation markers can be pursued (e.g., lineage-restricted transcription factors for adenocarcinoma; p40 for squamous cell carcinoma; chromogranin A and synaptophysin or INSM1 for neuroendocrine neoplasms).
|
31786484 |
2020 |
|
Adenocarcinoma
|
0.100 |
Biomarker
|
group |
BEFREE |
TTF-1 and napsin A IHC stainings had similar specificity but better sensitivity for adenocarcinoma than the mucin stains, but addition of PASD or ABPAS identified more tumors as adenocarcinomas (n = 8 and n = 10, respectively) than napsin A (n = 1) in cases with solid growth that were negative for TTF-1 and p40.
|
30718697 |
2019 |
|
Adenocarcinoma
|
0.100 |
Biomarker
|
group |
BEFREE |
Utility of p63 and p40 in Distinguishing Polymorphous Adenocarcinoma and Adenoid Cystic Carcinoma.
|
31653135 |
2019 |
|
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Over-activation of Cdc42 through guanine nucleotide exchange factor (GEF) is a critical event for Cdc42 involved cancer metastasis.
|
30714195 |
2019 |
|
Malignant Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
GEF-H1 upregulation may contribute to cancer cell migration and invasion and tumor progression.
|
30846413 |
2019 |
|
Squamous cell carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Both lesions were squamous cell carcinoma and positive for p40.
|
31845086 |
2019 |
|
Squamous cell carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Although P40 staining for the sarcomatous component was positive along with squamous carcinoma, E-cadherin expression disappeared while vimentin was expressed.
|
31366562 |
2019 |
|
Crohn Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Consistently, neutralizing antibodies against IL-12/IL-23 p40 and IL-23 p19 have been successfully used in clinical trials for therapy of Crohn´s disease and pilot studies in ulcerative colitis are ongoing.
|
30563755 |
2019 |
|
Crohn Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The approval of ustekinumab, a monoclonal antibody blocking the common p40 subunit of IL12 and IL23, marked an important evolution in medical management for CD: this novel class of biologic therapy demonstrated efficacy in both patients naïve to biologics as well as in patients experiencing inadequate response or loss of response to TNF antagonists.
|
31327402 |
2019 |
|
Crohn Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The monoclonal antibody targeting the shared p40 subunit of IL-12 and IL23, namely ustekinumab, has been approved for Crohn's disease (CD) and has demonstrated promising results in the treatment of ulcerative colitis.
|
30884245 |
2019 |
|
Crohn Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Ustekinumab and briakinumab are monoclonal antibodies that target the standard p40 subunit of cytokines interleukin-12 and interleukin-23 (IL-12/23p40), which are involved in the pathogenesis of Crohn's disease (CD).
|
31828765 |
2019 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
The antigens identified from mice with late stage tumors (Swap70, Gsn, and Arhgef2) were unable to inhibit tumor growth when used as vaccines (for example Gsn p = 0.26).
|
31126858 |
2019 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Adamantinoma-like Ewing sarcoma (ALES) is a rare tumor that demonstrates the EWSR1-FLI1 translocation characteristic of Ewing sarcoma despite overt epithelial differentiation including diffuse expression of cytokeratins and p40.
|
30285997 |
2019 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
This study attempted to elucidate how GEF-H1 drives tumor formation, motility, invasion and metastasis in colon cancer (CC).
|
30846413 |
2019 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
The selected markers included CK5/6, p40, CK19, BerEP4, p16 and SOX10.All tumors were CK5/6 and p40 positive.
|
31548087 |
2019 |
|
Primary malignant neoplasm
|
0.100 |
Biomarker
|
group |
BEFREE |
Over-activation of Cdc42 through guanine nucleotide exchange factor (GEF) is a critical event for Cdc42 involved cancer metastasis.
|
30714195 |
2019 |