Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation. - Wikidata - awgldk - TriplyDB

Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation.

Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation.

http://www.wikidata.org/entity/Q34445888

about

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa The macular degeneration-linked C1QTNF5 (S163) mutation causes higher-order structural rearrangements Characterisation of a C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degeneration C1q/TNF-related protein-12 (CTRP12), a novel adipokine that improves insulin sensitivity and glycemic control in mouse models of obesity and diabetes Novel observations and potential applications using digital infrared iris imaging Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.Endopeptidase cleavage generates a functionally distinct isoform of C1q/tumor necrosis factor-related protein-12 (CTRP12) with an altered oligomeric state and signaling specificity Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.Gene expression and functional annotation of the human ciliary body epithelia.Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5.Identification of a promoter for the human C1Q-tumor necrosis factor-related protein-5 gene associated with late-onset retinal degeneration.A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration Metabolic regulation by C1q/TNF-related protein-13 (CTRP13): activation OF AMP-activated protein kinase and suppression of fatty acid-induced JNK signaling Anterior Chamber Depth, Lens Thickness, and Related Measures in African American Females With Long Anterior Zonules: A Matched Study With Control for Refractive Error 174delG mutation in mouse MFRP causes photoreceptor degeneration and RPE atrophy.Gene therapy in patient-specific stem cell lines and a preclinical model of retinitis pigmentosa with membrane frizzled-related protein defects.Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.GNAT1 associated with autosomal recessive congenital stationary night blindness.Screening of candidate genes for primary open angle glaucoma.Adipokine CTRP-5 as a Potential Novel Inflammatory Biomarker in Chronic Obstructive Pulmonary Disease Quantification of long anterior lens zonules and their resulting zonule-free zone sizes.Investigating ocular dimensions in African Americans with long anterior zonules.Evaluation of MFRP as a candidate gene for high hyperopia.Loss of CTRP5 improves insulin action and hepatic steatosis Remnants of the anterior tunica vasculosa lentis and long anterior lens zonules Membrane frizzled-related protein is necessary for the normal development and maintenance of photoreceptor outer segments Metabolic function of the CTRP family of hormones.Morphologic Patterns Formed by the Anomalous Fibers Occurring Along the Anterior Capsule of the Crystalline Lens in People With the Long Anterior Zonule Trait.Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing.High-level expression, purification and characterization of active human C1q and tumour necrosis factor-related protein-1 in Escherichia coli.Ets-2 is involved in transcriptional regulation of C1qTNF-related protein 5 in muscle cells.Cloning, characterization, and expression analysis of the pig (Sus scrofa) C1q tumor necrosis factor-related protein-5 gene.LONGITUDINAL STRUCTURAL CHANGES IN LATE-ONSET RETINAL DEGENERATION.C1qTNF-related protein-6 mediates fatty acid oxidation via the activation of the AMP-activated protein kinase.Pathological Effects of Mutant C1QTNF5 (S163R) Expression in Murine Retinal Pigment Epithelium.Comprehensive whole-genome sequencing of an early-stage primary myelofibrosis patient defines low mutational burden and non-recurrent candidate genes.The association of circulating levels of complement-C1q TNF-related protein 5 (CTRP5) with nonalcoholic fatty liver disease and type 2 diabetes: a case-control study Role of hepatocyte nuclear factor-4alpha in transcriptional regulation of C1qTNF-related protein 5 in the liver.

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Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation.

http://www.wikidata.org/entity/Q34445888

description

2005 nî lūn-bûn

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2005 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2005 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2005年の論文

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2005年学术文章

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2005年学术文章

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2005年学术文章

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2005年学术文章

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2005年学术文章

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2005年學術文章

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name

Late-onset macular degeneratio ...... lt from a CTRP5 gene mutation.

@ast

Late-onset macular degeneratio ...... lt from a CTRP5 gene mutation.

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Late-onset macular degeneratio ...... lt from a CTRP5 gene mutation.

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type

label

Late-onset macular degeneratio ...... lt from a CTRP5 gene mutation.

@ast

Late-onset macular degeneratio ...... lt from a CTRP5 gene mutation.

@en

Late-onset macular degeneratio ...... lt from a CTRP5 gene mutation.

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prefLabel

Late-onset macular degeneratio ...... lt from a CTRP5 gene mutation.

@ast

Late-onset macular degeneratio ...... lt from a CTRP5 gene mutation.

@en

Late-onset macular degeneratio ...... lt from a CTRP5 gene mutation.

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Investigative Ophthalmology & Visual Science

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Late-onset macular degeneratio ...... ult from a CTRP5 gene mutation

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Athanasios J Karoukis

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David T Wong

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Irene H Maumenee

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Lianchun Chen

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Md Nawajes A Mandal

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Mona Lichter

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Ning C McLaren

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Paul A Sieving

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Radha Ayyagari

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Rafael C Caruso

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3363-3371

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scholarly article

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10.1167/IOVS.05-0159

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9

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46

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Peter F. Hitchcock

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2005-09-01T00:00:00Z

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7638126

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16123441

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