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%20AND%20SRC: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%20AND%20SRC: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%20AND%20SRC: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%20AND%20SRC: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%20AND%20SRC: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%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Gayle B Collin

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26405179%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Jeremy R Charette

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26405179%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Wanda L Hicks

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26405179%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Jürgen K Naggert

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26405179%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Neal S Peachey

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26405179%20AND%20SRC: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%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Patsy M Nishina

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26405179%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

publication date

24 September 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26405179%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

published in

Human Molecular Genetics

2 references

25 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26405179%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

volume

24

2 references

25 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26405179%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

issue

24

2 references

25 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26405179%20AND%20SRC: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%20AND%20SRC:MED&resulttype=core&format=json

ADAMTS proteins as modulators of microfibril formation and function

24 February 2020

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19 March 2017

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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

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

19 March 2017

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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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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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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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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 homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis

29 September 2017

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29 September 2017

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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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ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description.

21 January 2018

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Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis.

21 January 2018

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Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients

21 January 2018

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A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation.

21 January 2018

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Gene expression and protein distribution of ADAMTSL-4 in human iris, choroid and retina

21 January 2018

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ADAMTS17 mutation associated with primary lens luxation is widespread among breeds.

21 January 2018

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The mouse's eye and Mfrp: not quite human

21 January 2018

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Lack of type XVIII collagen results in anterior ocular defects

21 January 2018

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Collagen XVIII short isoform is critical for retinal vascularization, and overexpression of the Tsp-1 domain affects eye growth and cataract formation.

21 January 2018

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Formation and progression of sub-retinal pigment epithelium deposits in Efemp1 mutation knock-in mice: a model for the early pathogenic course of macular degeneration.

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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A comparative histologic study of the fibrillin microfibrillar system in the lens capsule of normal subjects and subjects with Marfan syndrome.

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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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%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

1 reference

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24 February 2020

2 references

25 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26405179%20AND%20SRC:MED&resulttype=core&format=json