Skip to search formSkip to main contentSkip to account menu

EFEMP1 wt Allele

Known as: S1-5, Fibulin 3 Gene, EGF Containing Fibulin Like Extracellular Matrix Protein 1 wt Allele 
Human EFEMP1 wild-type allele is located in the vicinity of 2p16 and is approximately 58 kb in length. This allele, which encodes EGF-containing… 
National Institutes of Health

Related topics

Related topics

5 relations
2p16Ligand BindingNegative Regulation of Cell DifferentiationReceptor Signaling

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Prevalence and risk factors for diabetic retinopathy at diagnosis (DRAD) in patients recently diagnosed with type 2 diabetes (T2D) or latent autoimmune diabetes in the adult (LADA).
Highly Cited
2015
Highly Cited
2015
Fibulin-3 levels in malignant pleural mesothelioma are associated with prognosis but not diagnosis
Background:Fibulin-3 (FBLN3) was recently presented as a promising novel biomarker for malignant pleural mesothelioma (MPM… 
Highly Cited
2014
Highly Cited
2014
Fibulin-3-mediated inhibition of epithelial-to-mesenchymal transition and self-renewal of ALDH+ lung cancer stem cells through IGF1R signaling
Fibulins (FBLNs), a family of extracellular matrix proteins, have recently been shown to act as tumor suppressors or activators… 
2012
2012
CDH13 and FLBN3 Gene Methylation are Associated with Poor Prognosis in Colorectal Cancer
The aim of this study was to identify potential epigenetic prognostic biomarkers for colorectal cancer (CRC) in the Chinese… 
2010
2010
A novel haplotype with the R345W mutation in the EFEMP1 gene associated with autosomal dominant drusen in a Japanese family.
PURPOSE To describe ophthalmic and molecular genetic findings in a family of Japanese patients with Malattia leventinese (ML… 
Highly Cited
2005
Highly Cited
2005
Aberrant accumulation of fibulin-3 in the endoplasmic reticulum leads to activation of the unfolded protein response and VEGF expression.
PURPOSE The inherited early-onset macular degenerative disease known as malattia leventinese (ML) and Doyne honeycomb retinal… 
Highly Cited
1999
Highly Cited
1999
The C-terminal domain of the regulatory protein NOVH is sufficient to promote interaction with fibulin 1C: a clue for a role of NOVH in cell-adhesion signaling.
The NOVH protein belongs to the emerging CCN [Connective tissue growth factor (CTGF), Cyr61/Cef10, nephroblastoma overexpressed… 
Highly Cited
1999
Highly Cited
1999
Virus and autoimmunity: induction of autoimmune disease in mice by mouse T lymphotropic virus (MTLV) destroying CD4+ T cells.
Neonatal infection of the mouse T lymphotropic virus (MTLV), a member of herpes viridae, causes various organ-specific autoimmune… 
Highly Cited
1997
Highly Cited
1997
Assessment of the phenotypic range seen in Doyne honeycomb retinal dystrophy.
OBJECTIVE Using molecular genetics as the basis for diagnosis, to assess the phenotype in the family originally described as… 
Highly Cited
1996
Highly Cited
1996
The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16.
Degeneration in the macula region of the retina is a feature of a heterogeneous group of inherited, progressive disorders… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)