OSTEOGENESIS IMPERFECTA, TYPE XII
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
OSTEOGENESIS IMPERFECTA, TYPE XII
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
OSTEOGENESIS IMPERFECTA, TYPE XII
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel variant in Sp7/Osx associated with recessive osteogenesis imperfecta with bone fragility and hearing impairment.
|
29382611 |
2018 |
Osteogenesis imperfecta type IV (disorder)
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Nosology and classification of genetic skeletal disorders: 2010 revision.
|
21438135 |
2011 |
Dwarfism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Micrognathism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Microstomia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Scoliosis, unspecified
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Congenital pectus carinatum
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Byzanthine arch palate
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Clumsiness - motor delay
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Malar flattening
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Generalized osteoporosis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Osteosarcoma
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
Osteogenic regulators Runx2 and OSX, and the late marker osteopontin (OPN) expressed at low levels in most OS lines, indicating that most OS cells fail to undergo terminal differentiation.
|
18838962 |
2008 |
Osteosarcoma
|
0.030 |
Biomarker
|
disease |
BEFREE |
We used quantitative real-time polymerase chain reaction to evaluate the gene expression of MDM2, CXCR4, RANKL, RB1, and OSTERIX in 98 samples of osteosarcoma taken from 47 patients (74 metastases and 24 primary tumors) and 30 nonmalignant lung tissues surrounding osteosarcoma metastases.
|
23845465 |
2013 |
Osteosarcoma
|
0.030 |
Biomarker
|
disease |
BEFREE |
Transfection of the osx gene into the mouse osteosarcoma cells inhibited tumor cell growth in vitro and in vivo and significantly reduced tumor incidence, tumor volume, and lung metastasis following intratibial injection.
|
15734992 |
2005 |
Osteosarcoma of bone
|
0.030 |
Biomarker
|
disease |
BEFREE |
Transfection of the osx gene into the mouse osteosarcoma cells inhibited tumor cell growth in vitro and in vivo and significantly reduced tumor incidence, tumor volume, and lung metastasis following intratibial injection.
|
15734992 |
2005 |
Osteosarcoma of bone
|
0.030 |
Biomarker
|
disease |
BEFREE |
We used quantitative real-time polymerase chain reaction to evaluate the gene expression of MDM2, CXCR4, RANKL, RB1, and OSTERIX in 98 samples of osteosarcoma taken from 47 patients (74 metastases and 24 primary tumors) and 30 nonmalignant lung tissues surrounding osteosarcoma metastases.
|
23845465 |
2013 |
Osteosarcoma of bone
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
Osteogenic regulators Runx2 and OSX, and the late marker osteopontin (OPN) expressed at low levels in most OS lines, indicating that most OS cells fail to undergo terminal differentiation.
|
18838962 |
2008 |
Childhood Osteosarcoma
|
0.030 |
Biomarker
|
disease |
BEFREE |
Transfection of the osx gene into the mouse osteosarcoma cells inhibited tumor cell growth in vitro and in vivo and significantly reduced tumor incidence, tumor volume, and lung metastasis following intratibial injection.
|
15734992 |
2005 |
Childhood Osteosarcoma
|
0.030 |
Biomarker
|
disease |
BEFREE |
We used quantitative real-time polymerase chain reaction to evaluate the gene expression of MDM2, CXCR4, RANKL, RB1, and OSTERIX in 98 samples of osteosarcoma taken from 47 patients (74 metastases and 24 primary tumors) and 30 nonmalignant lung tissues surrounding osteosarcoma metastases.
|
23845465 |
2013 |
Childhood Osteosarcoma
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
Osteogenic regulators Runx2 and OSX, and the late marker osteopontin (OPN) expressed at low levels in most OS lines, indicating that most OS cells fail to undergo terminal differentiation.
|
18838962 |
2008 |
Osteogenesis Imperfecta
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the Sp7 gene in humans are associated with craniofacial anomalies and osteogenesis imperfecta.
|
29405385 |
2018 |
Secondary malignant neoplasm of lung
|
0.010 |
Biomarker
|
disease |
BEFREE |
Transfection of the osx gene into the mouse osteosarcoma cells inhibited tumor cell growth in vitro and in vivo and significantly reduced tumor incidence, tumor volume, and lung metastasis following intratibial injection.
|
15734992 |
2005 |
Giant Cell Tumor of Bone
|
0.010 |
Biomarker
|
disease |
BEFREE |
Expression of preosteoblast markers and Cbfa-1 and Osterix gene transcripts in stromal tumour cells of giant cell tumour of bone.
|
15003787 |
2004 |