(Q37219217)

19 August 2017

Lyst mutation in mice recapitulates iris defects of human exfoliation syndrome (English)

1 reference

19 August 2017

Michael G Anderson

7

0 references

John H. Fingert

object named as

John H Fingert

6

0 references

author name string

Colleen M Trantow

1

1 reference

19 August 2017

Mao Mao

2

1 reference

19 August 2017

Greg E Petersen

3

1 reference

19 August 2017

Erin M Alward

4

1 reference

19 August 2017

Wallace L M Alward

5

1 reference

19 August 2017

language of work or name

English

0 references

publication date

21 November 2008

1 reference

Investigative Ophthalmology Visual Science

19 August 2017

1 reference

19 August 2017

50

1 reference

19 August 2017

3

1 reference

19 August 2017

1205-1214

1 reference

Iris phenotypes and pigment dispersion caused by genes influencing pigmentation

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

LOXL1 genetic polymorphisms are associated with exfoliation glaucoma in the Japanese population

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

Lysyl oxidase-like protein 1 (LOXL1) gene polymorphisms and exfoliation glaucoma in a Central European population.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

Association of non-synonymous single nucleotide polymorphisms in the LOXL1 gene with pseudoexfoliation syndrome in India

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

Analysis of LOXL1 polymorphisms in a United States population with pseudoexfoliation glaucoma

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

New insights into elastic fiber assembly

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

6 September 2017

Chediak-Higashi syndrome

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

6 September 2017

12 December 2020

Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

Cell adhesion to fibrillin-1: identification of an Arg-Gly-Asp-dependent synergy region and a heparin-binding site that regulates focal adhesion formation.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

Intraocular pressure measurement in mice: a comparison between Goldmann and rebound tonometry.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

Elastic fibres in health and disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

Ocular and systemic pseudoexfoliation syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

Grey, a novel mutation in the murine Lyst gene, causes the beige phenotype by skipping of exon 25

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

Susceptibility to neurodegeneration in a glaucoma is modified by Bax gene dosage

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

High-dose radiation with bone marrow transfer prevents neurodegeneration in an inherited glaucoma

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

Fibulins in development and heritable disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

Use of expression constructs to dissect the functional domains of the CHS/beige protein: identification of multiple phenotypes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

Chediak-Higashi Syndrome: a rare disorder of lysosomes and lysosome related organelles

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

Pseudoexfoliation syndrome in Icelandic families

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

Exfoliation syndrome and exfoliation glaucoma

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

The WD repeat: a common architecture for diverse functions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

The Beige/Chediak-Higashi syndrome gene encodes a widely expressed cytosolic protein

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

A unification hypothesis of pigment dispersion syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

Identification of the homologous beige and Chediak-Higashi syndrome genes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

Complementation of the beige mutation in cultured cells by episomally replicating murine yeast artificial chromosomes.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

Light-induced alterations of retinal pigment epithelium in black, albino, and beige mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

Role of transforming growth factor-beta1 and its latent form binding protein in pseudoexfoliation syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

The Ocular Pigmentary Disturbance of Human Chédiak-Higashi Syndrome: A Comparative Light- and Electron-microscopic Study and Review of the Literature

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

The Basement Membrane Exfoliation Syndrome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

Mutations in genes encoding melanosomal proteins cause pigmentary glaucoma in DBA/2J mice

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

Generalized peripheral iris transluminance in the pseudoexfoliation syndrome

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

Use of infrared videography to detect and record iris transillumination defects

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

Immunohistochemical localization of basement membrane components in pseudoexfoliation material of the lens capsule

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

Genetic association of LOXL1 gene variants and exfoliation glaucoma in a Utah cohort.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

Lysyl oxidase-like 1 polymorphisms and exfoliation syndrome in the Japanese population.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

A missense mutation in the WD40 domain of murine Lyst is linked to severe progressive Purkinje cell degeneration.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

A goniolens for clinical monitoring of the mouse iridocorneal angle and optic nerve.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

Exfoliation (pseudoexfoliation) syndrome: toward a new understanding. Proceedings of the First International Think Tank.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

Iris transillumination defects in the pigment dispersion syndrome as detected with infrared videography: a comparison between a group of blacks and a group of nonblacks

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

Chronic open-angle glaucoma and associated ophthalmic findings in monozygotic twins and their spouses in Iceland.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

Adult Chédiak-Higashi syndrome presenting as parkinsonism and dementia.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

A histopathologic study of iris changes in pseudoexfoliation syndrome

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people

20 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

LOXL1 Mutations Are Associated with Exfoliation Syndrome in Patients from the Midwestern United States

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693230

Iris in pseudoexfoliation

4 December 2018

1 reference

12 December 2020

Ocular melanin pigmentation anomalies in cats, cattle, mink, and mice with Chediak-Higashi syndrome: histologic observations

1 reference

12 December 2020

Ocular manifestations of the Chédiak-Higashi syndrome in four species of animals

1 reference

12 December 2020

On the ultrastructure and the formation of pseudo-exfoliation material

1 reference

12 December 2020

Association of LOXL1 common sequence variants in German and Italian patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma

1 reference

12 December 2020

1 reference

12 December 2020

Lysosomes and melanin granules of the retinal pigment epithelium in a mouse model of the Chediak-Higashi syndrome

1 reference

12 December 2020

Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome

1 reference

12 December 2020

Increased extracellular deposition of fibrillin-containing fibrils in pseudoexfoliation syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1167/IOVS.08-2791

1 reference

19 August 2017

1 reference

19 August 2017

1 reference