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Cloning, expression and characterization of the murine Efemp1, a gene mutated in Doyne-Honeycomb retinal dystrophy.
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1 reference
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Europe PubMed Central
PubMed ID
12915309
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12915309%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
title
Cloning, expression and characterization of the murine Efemp1, a gene mutated in Doyne-Honeycomb retinal dystrophy
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
12915309
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12915309%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
author
Hubert Schorle
series ordinal
4
1 reference
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Europe PubMed Central
PubMed ID
12915309
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12915309%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
author name string
Julia Ehlermann
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
12915309
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12915309%20AND%20SRC:MED&resulttype=core&format=json
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6 November 2019
Susanne Weber
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2
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Europe PubMed Central
PubMed ID
12915309
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12915309%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
Petra Pfisterer
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3
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Europe PubMed Central
PubMed ID
12915309
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12915309%20AND%20SRC:MED&resulttype=core&format=json
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6 November 2019
publication date
1 August 2003
1 reference
stated in
Europe PubMed Central
PubMed ID
12915309
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12915309%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
published in
Gene Expression Patterns
1 reference
stated in
Europe PubMed Central
PubMed ID
12915309
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12915309%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
volume
3
1 reference
stated in
Europe PubMed Central
PubMed ID
12915309
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12915309%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
issue
4
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Europe PubMed Central
PubMed ID
12915309
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12915309%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
page(s)
441-447
1 reference
stated in
Europe PubMed Central
PubMed ID
12915309
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12915309%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
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Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4
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The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16.
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7 January 2021
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Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21
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Structure and chromosomal assignment of the human S1-5 gene (FBNL) that is highly homologous to fibrillin
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Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy (DHRD)
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Crossref
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7 January 2021
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Prevalence of age-related maculopathy. The Beaver Dam Eye Study
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7 January 2021
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An overexpressed gene transcript in senescent and quiescent human fibroblasts encoding a novel protein in the epidermal growth factor-like repeat family stimulates DNA synthesis
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7 January 2021
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Expression of Cdcrel-1 (Pnutl1), a gene frequently deleted in velo-cardio-facial syndrome/DiGeorge syndrome
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https://api.crossref.org/works/10.1016%2FS1567-133X%2803%2900084-X
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7 January 2021
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Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration
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https://api.crossref.org/works/10.1016%2FS1567-133X%2803%2900084-X
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7 January 2021
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Heritable diseases of the skeleton. Part II: Molecular insights into skeletal development-matrix components and their homeostasis.
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Antagonistic interactions between FGF and BMP signaling pathways: a mechanism for positioning the sites of tooth formation
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The roles of collagen genes in skeletal development and morphogenesis
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Doyne's honeycomb retinal degeneration. Clinical and genetic features
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A subtractive gene expression screen suggests a role of transcription factor AP-2 alpha in control of proliferation and differentiation
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Direct binding and activation of receptor tyrosine kinases by collagen
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A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
1 reference
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Crossref
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7 January 2021
based on heuristic
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Molecular genetic heterogeneity in autosomal dominant drusen
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Crossref
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7 January 2021
based on heuristic
inferred from DOI database lookup
The prevalence of age-related maculopathy in the Rotterdam Study
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Crossref
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Transcription factor gene AP-2 gamma essential for early murine development
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7 January 2021
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Identifiers
DOI
10.1016/S1567-133X(03)00084-X
1 reference
stated in
Europe PubMed Central
PubMed ID
12915309
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12915309%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
PubMed ID
12915309
1 reference
stated in
Europe PubMed Central
PubMed ID
12915309
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12915309%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
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