Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation - Wikidata - awgldk - TriplyDB

Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation

Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation

http://www.wikidata.org/entity/Q24657752

about

X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development Retinal dystrophies, genomic applications in diagnosis and prospects for therapy Cultural evolutionary tipping points in the storage and transmission of information Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy.Loss-of-function mutations in RAB18 cause Warburg micro syndrome.Inherited diseases of photoreceptors and prospects for gene therapy.Pharmacogenetics of second-generation antipsychotics.Mutation associated with an autosomal dominant cone-rod dystrophy CORD7 modifies RIM1-mediated modulation of voltage-dependent Ca2+ channels.Transcription start site profiling of 15 anatomical regions of the Macaca mulatta central nervous system.Impact of energy restriction during late gestation on the muscle and blood transcriptome of beef calves after preconditioning

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Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation

http://www.wikidata.org/entity/Q24657752

description

2007 nî lūn-bûn

@nan

2007 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2007 թվականի հունիսին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年论文

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name

Genetic enhancement of cogniti ...... ystrophy due to RIMS1 mutation

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Genetic enhancement of cogniti ...... ystrophy due to RIMS1 mutation

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Genetic enhancement of cogniti ...... ystrophy due to RIMS1 mutation

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type

label

Genetic enhancement of cogniti ...... ystrophy due to RIMS1 mutation

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Genetic enhancement of cogniti ...... ystrophy due to RIMS1 mutation

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Genetic enhancement of cogniti ...... ystrophy due to RIMS1 mutation

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prefLabel

Genetic enhancement of cogniti ...... ystrophy due to RIMS1 mutation

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Genetic enhancement of cogniti ...... ystrophy due to RIMS1 mutation

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Genetic enhancement of cogniti ...... ystrophy due to RIMS1 mutation

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JMG.2006.047407

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Journal of Medical Genetics

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Genetic enhancement of cogniti ...... ystrophy due to RIMS1 mutation

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Anthony T Moore

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Curtis Gumbs

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David B Goldstein

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Dianne Gerrelli

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Ian J Deary

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John M Starr

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Lawrence J Whalley

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Michel Michaelides

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Nicole Walley

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Pamela J Thompson

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P2860

Microcephalin, a Gene Regulating Brain Size, Continues to Evolve Adaptively in Humans

The synaptic vesicle cycle

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

Heterozygous mutations of OTX2 cause severe ocular malformations

Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q

The presynaptic active zone protein RIM1alpha is critical for normal learning and memory.

Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7)

RIM1alpha forms a protein scaffold for regulating neurotransmitter release at the active zone

RIM1alpha is required for presynaptic long-term potentiation

The RIM/NIM family of neuronal C2 domain proteins. Interactions with Rab3 and a new class of Src homology 3 domain proteins

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373-80

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scholarly article

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10.1136/JMG.2006.047407

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6

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44

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Michael E. Weale

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2007-06-01T00:00:00Z

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6566166

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17237123

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2740882

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