Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract. - Wikidata - wikimedia - TriplyDB

Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.

Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.

http://www.wikidata.org/entity/Q33994124

about

The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract.Cat-Map: putting cataract on the map Genetic variations in GJA3, GJA8, LIM2, and age-related cataract in the Chinese population: a mutation screening study.Association of EPHA2 polymorphisms and age-related cortical cataract in a Han Chinese population Major intrinsic protein (MIP) polymorphism is associated with age-related cataract in Chinese.A spontaneous mutation in Srebf2 leads to cataracts and persistent skin wounds in the lens opacity 13 (lop13) mouse.Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause Glucosuria Screening and structural evaluation of deleterious Non-Synonymous SNPs of ePHA2 gene involved in susceptibility to cataract formation.Epigenetic Regulation of Werner Syndrome Gene in Age-Related Cataract.Genetic variations and polymorphisms in the ezrin gene are associated with age-related cataract.Regulatory regions of the paraoxonase 1 (PON1) gene are associated with neovascular age-related macular degeneration (AMD).A Gel Formulation Containing a New Recombinant Form of Manganese Superoxide Dismutase: A Clinical Experience Based on Compassionate Use-Safety of a Case Report X-linked creatine transporter deficiency: clinical aspects and pathophysiology.Association of alpha A-crystallin polymorphisms with susceptibility to nuclear age-related cataract in a Han Chinese population.Functional non-coding polymorphism in an EPHA2 promoter PAX2 binding site modifies expression and alters the MAPK and AKT pathways.Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147.Molecular Genetics of Cataract.

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P2860

Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.

http://www.wikidata.org/entity/Q33994124

description

2010 nî lūn-bûn

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2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2010 թվականի փետրվարին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.

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Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.

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type

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Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.

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Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.

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Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.

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Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.

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Investigative Ophthalmology & Visual Science

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Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.

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Anthony T Moore

http://www.w3.org/2001/XMLSchema#string

Barbara Kloeckener-Gruissem

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Daniel F Schorderet

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Felix C Tanner

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Francis L Munier

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Istvan Magyar

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John Neidhardt

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Jurian Zuercher

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Naushin Waseem

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Shomi Bhattacharya

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P2860

CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q

Mfold web server for nucleic acid folding and hybridization prediction

The EPHA2 gene is associated with cataracts linked to chromosome 1p

Translational pathophysiology: a novel molecular mechanism of human disease

Translation matters: protein synthesis defects in inherited disease

Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria

A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians

Cataract blindness--challenges for the 21st century

ESEfinder: A web resource to identify exonic splicing enhancers

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers.

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3354-3361

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20181839

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