Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort (Q102141661)

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20 November 2020

title

Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort (English)

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20 November 2020

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Lev Prasov

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publication date

17 November 2020

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20 November 2020

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20 November 2020

volume

10

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20 November 2020

issue

1

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20 November 2020

page(s)

19986

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Visual Impairment and Blindness in Adults in the United States: Demographic and Geographic Variations From 2015 to 2050.

20 November 2020

cites work

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

Global causes of blindness and distance vision impairment 1990-2020: a systematic review and meta-analysis

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

Heritability analysis of spherical equivalent, axial length, corneal curvature, and anterior chamber depth in the Beaver Dam Eye Study

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

Nanophthalmos: A Review of the Clinical Spectrum and Genetics.

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

Evaluation of Eyeball and Orbit in Relation to Gender and Age.

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

RETINAL AND CHOROIDAL CHANGES OF NANOPHTHALMIC EYES WITH AND WITHOUT SECONDARY GLAUCOMA

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

Nanophthalmos in a Melanesian population

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

Hereditary high hypermetropia in the Faroe Islands

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

Management of strabismus in nanophthalmic patients: a long-term follow-up report.

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12.

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

CRB1: one gene, many phenotypes

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos.

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

The spectrum of ocular phenotypes caused by mutations in the BEST1 gene

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

Cataract surgery in patients with nanophthalmos: results and complications

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

PLINK: a tool set for whole-genome association and population-based linkage analyses

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

WhatsHap: Weighted Haplotype Assembly for Future-Generation Sequencing Reads.

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

Integrative genomics viewer

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

CoNVaDING: Single Exon Variation Detection in Targeted NGS Data

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

VarSome: the human genomic variant search engine.

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

SWISS-MODEL: homology modelling of protein structures and complexes.

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

IBS: an illustrator for the presentation and visualization of biological sequences

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

The nanophthalmos protein TMEM98 inhibits MYRF self-cleavage and is required for eye size specification

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

Interactive Repression of MYRF Self-Cleavage and Activity in Oligodendrocyte Differentiation by TMEM98 Protein.

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

Identification of MFRP Mutations in Chinese Families with High Hyperopia

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12-q13.3.

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

Detection of Clinically Relevant Genetic Variants in Chinese Patients With Nanophthalmos by Trio-Based Whole-Genome Sequencing Study

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-76725-8

7 January 2021

10.1038/S41598-020-76725-8

Identifiers

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20 November 2020

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