OROFACIAL CLEFT 11
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.
|
19249007 |
2009 |
OROFACIAL CLEFT 11
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.
|
18252212 |
2008 |
OROFACIAL CLEFT 11
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
Thus, a novel genomic region on 18q21.1 was identified that most likely harbors a high-risk variant for NSCL/P in this family; we propose to name this locus "OFC11" (orofacial cleft 11).
|
17564975 |
2007 |
OROFACIAL CLEFT 11
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
[A preliminary report on fluorescent staining of CSF cells].
|
2427285 |
1986 |
OROFACIAL CLEFT 11
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
OROFACIAL CLEFT 11
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
OROFACIAL CLEFT 11
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
MICROPHTHALMIA, SYNDROMIC 6 (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic analyses of bone morphogenetic protein 2, 4 and 7 in congenital combined pituitary hormone deficiency.
|
24289245 |
2013 |
MICROPHTHALMIA, SYNDROMIC 6 (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.
|
21340693 |
2011 |
MICROPHTHALMIA, SYNDROMIC 6 (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.
|
18252212 |
2008 |
MICROPHTHALMIA, SYNDROMIC 6 (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.
|
18252212 |
2008 |
MICROPHTHALMIA, SYNDROMIC 6 (disorder)
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.
|
18252212 |
2008 |
MICROPHTHALMIA, SYNDROMIC 6 (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
[A preliminary report on fluorescent staining of CSF cells].
|
2427285 |
1986 |
MICROPHTHALMIA, SYNDROMIC 6 (disorder)
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
MICROPHTHALMIA, SYNDROMIC 6 (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
MICROPHTHALMIA, SYNDROMIC 6 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
MICROPHTHALMIA, SYNDROMIC 6 (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Prolactinoma
|
0.540 |
Biomarker
|
disease |
BEFREE |
Moreover, the role of BMP-4 which stimulates prolactinoma development through the Smad signalling cascade is described and its role as putative drug target for the treatment of prolactinomas is discussed.
|
31705792 |
2020 |
Prolactinoma
|
0.540 |
AlteredExpression
|
disease |
BEFREE |
BMP-4 transcript and protein are differentially expressed and show increase in the majority of prolactinomas relative to normal pituitary, whereas the majority of other adenoma subtypes show reduced expression relative to both prolactinoma and normal pituitaries.
|
22700770 |
2012 |
Prolactinoma
|
0.540 |
AlteredExpression
|
disease |
BEFREE |
PDGFA was significantly upregulated in treated prolactinomas, while BMP4 was significantly downregulated in treated prolactinomas.
|
22366961 |
2012 |
Prolactinoma
|
0.540 |
AlteredExpression
|
disease |
BEFREE |
The differential expression and action of BMP-4 in prolactinomas and corticotrophinomas highlights the importance of studying a gene with contrasting actions in two cell lineages of the same organ in order to understand the pituitary transformation process.
|
19407504 |
2009 |
Prolactinoma
|
0.540 |
Biomarker
|
disease |
CTD_human |
Bone morphogenetic protein-4 (BMP-4), a member of the transforming growth factor-Beta(TGF-Beta) family, is overexpressed in different prolactinoma models and induces the development of these lineage adenomas.
|
16809920 |
2006 |
Prolactinoma
|
0.540 |
Biomarker
|
disease |
RGD |
BMP-4 stimulates, and noggin blocks, cell proliferation and the expression of c-Myc in human prolactinomas, whereas BMP-4 has no action in other human pituitary tumors.
|
12552124 |
2003 |
Colorectal Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Taken together, these findings reveal a risk SNP-mediated long-range regulation on the NFATC2-ZFP90-BMP4 pathway underlying the initiation of CRC.
|
31641208 |
2020 |
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
|
31089142 |
2019 |