Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration (Q24538666)

2

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Yvan Arsenijevic

3

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Daniel F Schorderet

4

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Precious J McLaughlin

5

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Daniel Chung

6

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Elias Traboulsi

7

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Alan D Marmorstein

Proceedings of the National Academy of Sciences of the United States of America

8

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language of work or name

English

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publication date

1 October 2002

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published in

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volume

99

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issue

20

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page(s)

13067-72

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describes a project that uses

ImageQuant

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC130587/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium

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Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4

24 March 2017

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A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

24 March 2017

1 reference

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The BRCA2 gene product functionally interacts with p53 and RAD51

24 March 2017

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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

24 March 2017

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Interaction of DA41, a DAN-binding protein, with the epidermal growth factor-like protein, S(1-5)

24 March 2017

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Structure and chromosomal assignment of the human S1-5 gene (FBNL) that is highly homologous to fibrillin

24 March 2017

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A human BRCA2 complex containing a structural DNA binding component influences cell cycle progression

24 March 2017

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Role of Hsp70 in regulation of stress-kinase JNK: implications in apoptosis and aging

24 March 2017

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Impairment of the ubiquitin-proteasome system by protein aggregation

24 March 2017

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Cellular defenses against unfolded proteins: a cell biologist thinks about neurodegenerative diseases

7 April 2017

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Risk factors for age-related macular degeneration

27 September 2017

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Saturation of, and competition for entry into, the apical secretory pathway

27 September 2017

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Age-related macular degeneration

27 September 2017

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Dominantly inherited drusen represent more than one disorder: a historical review

27 September 2017

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Protein disulfide isomerase: multiple roles in the modification of nascent secretory proteins

27 September 2017

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Assessment of the phenotypic range seen in Doyne honeycomb retinal dystrophy

27 September 2017

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30 May 2018

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12 December 2020

Age-related macular degeneration

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PubMed

12 December 2020

Prevalence of age-related maculopathy. The Beaver Dam Eye Study

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PubMed

12 December 2020

The prevalence of age-related maculopathy in the Rotterdam Study

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PubMed

12 December 2020

Identifiers

DOI

10.1073/PNAS.202491599

1 reference

release_xdxqg7syp5hkjejkn2upcwfppm

0 references

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849798

1 reference

1 reference

849798

PubMed publication ID

12242346

1 reference