Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation (Q28513515)

25 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26405179 AND SRC:MED&resulttype=core&format=json

24 February 2020

title

Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation (English)

2 references

25 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26405179 AND SRC:MED&resulttype=core&format=json

24 February 2020

1 reference

Fibrillin 1

1 reference

ADAMTS-like 4

1 reference

Microfibrillar-associated protein 2

1 reference

author

Dirk Hubmacher

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26405179 AND SRC:MED&resulttype=core&format=json

24 February 2020

Mark P. Krebs

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26405179 AND SRC:MED&resulttype=core&format=json

24 February 2020

author name string

Lisa Stone

5

2 references

25 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26405179 AND SRC:MED&resulttype=core&format=json

24 February 2020

Minzhong Yu

6

2 references

25 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26405179 AND SRC:MED&resulttype=core&format=json

24 February 2020

Gayle B Collin

1

1 reference

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24 February 2020

Jeremy R Charette

3

1 reference

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24 February 2020

Wanda L Hicks

4

1 reference

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24 February 2020

Jürgen K Naggert

7

1 reference

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24 February 2020

Neal S Peachey

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26405179 AND SRC:MED&resulttype=core&format=json

24 February 2020

Suneel S Apte

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26405179 AND SRC:MED&resulttype=core&format=json

24 February 2020

Patsy M Nishina

11

1 reference

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24 February 2020

publication date

24 September 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26405179 AND SRC:MED&resulttype=core&format=json

24 February 2020

published in

Human Molecular Genetics

2 references

25 January 2017

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24 February 2020

volume

24

2 references

25 January 2017

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24 February 2020

issue

24

2 references

25 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26405179 AND SRC:MED&resulttype=core&format=json

24 February 2020

page(s)

6958-6974

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26405179 AND SRC:MED&resulttype=core&format=json

ADAMTS proteins as modulators of microfibril formation and function

24 February 2020

cites work

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19 March 2017

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19 March 2017

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Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein

19 March 2017

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CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina

19 March 2017

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Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6

19 March 2017

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Lack of collagen XVIII/endostatin results in eye abnormalities

19 March 2017

1 reference

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Interactions of fibrillin-1 with heparin/heparan sulfate, implications for microfibrillar assembly

19 March 2017

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Posttranslational modifications of microfibril associated glycoprotein-1 (MAGP-1)

19 March 2017

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7 April 2017

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Mouse slc9a8 mutants exhibit retinal defects due to retinal pigmented epithelium dysfunction

7 April 2017

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29 September 2017

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Gene profiling of postnatal Mfrprd6 mutant eyes reveals differential accumulation of Prss56, visual cycle and phototransduction mRNAs

29 September 2017

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Selective impairment of a subset of Ran-GTP-binding domains of ran-binding protein 2 (Ranbp2) suffices to recapitulate the degeneration of the retinal pigment epithelium (RPE) triggered by Ranbp2 ablation.

29 September 2017

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Proteomic View of Basement Membranes from Human Retinal Blood Vessels, Inner Limiting Membranes, and Lens Capsules

29 September 2017

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Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration

29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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Novel method for the rapid isolation of RPE cells specifically for RNA extraction and analysis

29 September 2017

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29 September 2017

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A Review and Update on the Molecular Basis of Pathogenesis of Sorsby Fundus Dystrophy

29 September 2017

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Gene therapy for retinitis pigmentosa caused by MFRP mutations: human phenotype and preliminary proof of concept

29 September 2017

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ADAMTSL4, a Secreted Glycoprotein Widely Distributed in the Eye, Binds Fibrillin-1 Microfibrils and Accelerates Microfibril Biogenesis

29 September 2017

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174delG mutation in mouse MFRP causes photoreceptor degeneration and RPE atrophy.

29 September 2017

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29 September 2017

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mTOR-mediated dedifferentiation of the retinal pigment epithelium initiates photoreceptor degeneration in mice.

29 September 2017

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29 September 2017

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A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis

29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae

29 September 2017

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2 June 2018

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2 June 2018

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Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene

2 June 2018

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Craniosynostosis with ectopia lentis and a homozygous 20-base deletion in ADAMTSL4.

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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ADAMTS9locus associates with increased risk of wet AMD

21 January 2018

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21 January 2018

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27 November 2018

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12 December 2020

A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis

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Retinal degeneration 6 (rd6): a new mouse model for human retinitis punctata albescens

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12 December 2020

Novel compound heterozygous mutations identified in ADAMTSL4 gene in a Chinese family with isolated ectopia lentis

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12 December 2020

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Identifiers

DOI

10.1093/HMG/DDV399

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26405179 AND SRC:MED&resulttype=core&format=json

24 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26405179 AND SRC:MED&resulttype=core&format=json

24 February 2020

2 references

25 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26405179 AND SRC:MED&resulttype=core&format=json