Novel mutations in the small leucine-rich repeat protein/proteoglycan (SLRP) genes in high myopia. (Q30358171)

20 June 2017

Novel mutations in the small leucine-rich repeat protein/proteoglycan (SLRP) genes in high myopia. (English)

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20 June 2017

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2

Paul N Bishop

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20 June 2017

8

Tim D Spector

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20 June 2017

Marja Majava

1

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20 June 2017

Pasi Hägg

3

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20 June 2017

Paul G Scott

4

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20 June 2017

Aine Rice

5

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20 June 2017

Chris Inglehearn

6

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20 June 2017

Christopher J Hammond

7

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20 June 2017

Leena Ala-Kokko

9

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20 June 2017

Minna Männikkö

10

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20 June 2017

1 April 2007

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20 June 2017

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20 June 2017

28

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20 June 2017

336-344

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20 June 2017

4

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Prevalence of myopia in the United States

20 June 2017

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https://api.crossref.org/works/10.1002%2FHUMU.20444

Mice deficient in small leucine-rich proteoglycans: novel in vivo models for osteoporosis, osteoarthritis, Ehlers-Danlos syndrome, muscular dystrophy, and corneal diseases

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

Neonatal development of the corneal stroma in wild-type and lumican-null mice.

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

The leucine-rich repeat protein PRELP binds perlecan and collagens and may function as a basement membrane anchor

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

Structural macromolecules and supramolecular organisation of the vitreous gel.

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

The role of the posterior ciliary body in the biosynthesis of vitreous humour.

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

Primary structure of human lumican (keratan sulfate proteoglycan) and localization of the gene (LUM) to chromosome 12q21.3-q22

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

Lumican regulates collagen fibril assembly: skin fragility and corneal opacity in the absence of lumican

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

Ocular and scleral alterations in gene-targeted lumican-fibromodulin double-null mice

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

Standardizing mutation nomenclature: why bother?

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

Interaction of lumican with aggrecan in the aging human sclera

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

Differential expression of lumican and fibromodulin regulate collagen fibrillogenesis in developing mouse tendons

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

Family aggregation of high myopia: estimation of the sibling recurrence risk ratio.

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

Protein localization in the human eye and genetic screen of opticin

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

The expression pattern of opticin during chicken embryogenesis.

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

Frequency of myopia gravis

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

Collagen gene expression and the altered accumulation of scleral collagen during the development of high myopia

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

Fibromodulin-deficient mice display impaired collagen fibrillogenesis in predentin as well as altered dentin mineralization and enamel formation

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

The human lumican gene. Organization, chromosomal location, and expression in articular cartilage

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

The gene organization, chromosome location, and expression of a 55-kDa matrix protein (PRELP) of human articular cartilage

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

A susceptibility locus for myopia in the normal population is linked to the PAX6 gene region on chromosome 11: a genomewide scan of dizygotic twins

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

The biology of the small leucine-rich proteoglycans. Functional network of interactive proteins

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

TGFbeta-induced factor: a candidate gene for high myopia

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

Characterization of opticin and evidence of stable dimerization in solution

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

Comparative protein structure modeling of genes and genomes

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

XtalView/Xfit--A versatile program for manipulating atomic coordinates and electron density

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

A genome wide scan for familial high myopia suggests a novel locus on chromosome 7q36.

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

New Locus for Autosomal Dominant High Myopia Maps to the Long Arm of Chromosome 17

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

Immunolocalisation of opticin in the human eye

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

Identification in vitreous and molecular cloning of opticin, a novel member of the family of leucine-rich repeat proteins of the extracellular matrix

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

Epidemiology of myopia

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

Light and X-ray scattering show decorin to be a dimer in solution.

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

Crystal structure of the dimeric protein core of decorin, the archetypal small leucine-rich repeat proteoglycan.

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

Genomewide linkage scan for myopia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 22q12

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

Localization of the human fibromodulin gene (FMOD) to chromosome 1q32 and completion of the cDNA sequence

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

Evidence that a locus for familial high myopia maps to chromosome 18p

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

Evaluation of Lipin 2 as a candidate gene for autosomal dominant 1 high-grade myopia

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

Penetrance and expressivity in the molecular age

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https://api.crossref.org/works/10.1002%2FHUMU.20444

7 January 2021

Identifiers

DOI

10.1002/HUMU.20444

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20 June 2017

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