LRRTM4-C538Y novel gene mutation is associated with hereditary macular degeneration with novel dysfunction of ON-type bipolar cells (Q88671336)

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26 March 2020

title

LRRTM4-C538Y novel gene mutation is associated with hereditary macular degeneration with novel dysfunction of ON-type bipolar cells (English)

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26 March 2020

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26 March 2020

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26 March 2020

Yuichi Kawamura

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26 March 2020

Akiko Suga

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26 March 2020

Takuro Fujimaki

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26 March 2020

Kazutoshi Yoshitake

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26 March 2020

Kazushige Tsunoda

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26 March 2020

publication date

14 May 2018

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Journal of Human Genetics

26 March 2020

published in

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26 March 2020

volume

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26 March 2020

issue

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26 March 2020

page(s)

893-900

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A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

26 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1038%2FS10038-018-0465-4

7 January 2021

Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion

1 reference

https://api.crossref.org/works/10.1038%2FS10038-018-0465-4

7 January 2021

Identification of the gene responsible for Best macular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FS10038-018-0465-4

7 January 2021

Positional cloning of the gene associated with X-linked juvenile retinoschisis

1 reference

https://api.crossref.org/works/10.1038%2FS10038-018-0465-4

7 January 2021

Dominant mutations in RP1L1 are responsible for occult macular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FS10038-018-0465-4

7 January 2021

North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.

1 reference

https://api.crossref.org/works/10.1038%2FS10038-018-0465-4

7 January 2021

Genetic basis of inherited macular dystrophies and implications for stem cell therapy.

1 reference

https://api.crossref.org/works/10.1038%2FS10038-018-0465-4

7 January 2021

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FS10038-018-0465-4

7 January 2021

Progerin elicits disease phenotypes of progeria in mice whether or not it is farnesylated.

1 reference

https://api.crossref.org/works/10.1038%2FS10038-018-0465-4

7 January 2021

Exome sequencing as a tool for Mendelian disease gene discovery

1 reference

https://api.crossref.org/works/10.1038%2FS10038-018-0465-4

7 January 2021

ISCEV Standard for full-field clinical electroretinography (2015 update).

1 reference

https://api.crossref.org/works/10.1038%2FS10038-018-0465-4

7 January 2021

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://api.crossref.org/works/10.1038%2FS10038-018-0465-4

7 January 2021

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://api.crossref.org/works/10.1038%2FS10038-018-0465-4

7 January 2021

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

1 reference

https://api.crossref.org/works/10.1038%2FS10038-018-0465-4

7 January 2021

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 reference

https://api.crossref.org/works/10.1038%2FS10038-018-0465-4

7 January 2021

Congenital stationary night blindness with negative electroretinogram. A new classification

1 reference

https://api.crossref.org/works/10.1038%2FS10038-018-0465-4

7 January 2021

An unbiased expression screen for synaptogenic proteins identifies the LRRTM protein family as synaptic organizers

1 reference

https://api.crossref.org/works/10.1038%2FS10038-018-0465-4

7 January 2021

LRRTM3 Regulates Excitatory Synapse Development through Alternative Splicing and Neurexin Binding

1 reference

https://api.crossref.org/works/10.1038%2FS10038-018-0465-4

7 January 2021

An LRRTM4-HSPG complex mediates excitatory synapse development on dentate gyrus granule cells

1 reference

https://api.crossref.org/works/10.1038%2FS10038-018-0465-4

7 January 2021

Functional impact of global rare copy number variation in autism spectrum disorders

1 reference

https://api.crossref.org/works/10.1038%2FS10038-018-0465-4

7 January 2021

Control of neural circuit formation by leucine-rich repeat proteins

1 reference

https://api.crossref.org/works/10.1038%2FS10038-018-0465-4

7 January 2021

Pathogenetic model for Tourette syndrome delineates overlap with related neurodevelopmental disorders including Autism.

1 reference

https://api.crossref.org/works/10.1038%2FS10038-018-0465-4

7 January 2021

Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry

1 reference

https://api.crossref.org/works/10.1038%2FS10038-018-0465-4

7 January 2021

Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

1 reference

https://api.crossref.org/works/10.1038%2FS10038-018-0465-4

7 January 2021

Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.

1 reference

https://api.crossref.org/works/10.1038%2FS10038-018-0465-4

7 January 2021

Genetic modifiers as relevant biological variables of eye disorders

1 reference

https://api.crossref.org/works/10.1038%2FS10038-018-0465-4

7 January 2021

Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29760528

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/S10038-018-0465-4

1 reference

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26 March 2020

1 reference

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