Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration.
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Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein.RXFP1 is Targeted by Complement C1q Tumor Necrosis Factor-Related Factor 8 in Brain CancerCrystal structure of the globular domain of C1QTNF5: Implications for late-onset retinal macular degenerationThe macular degeneration-linked C1QTNF5 (S163) mutation causes higher-order structural rearrangementsCharacterisation of a C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degenerationMolecular, biochemical and functional characterizations of C1q/TNF family members: adipose-tissue-selective expression patterns, regulation by PPAR-gamma agonist, cysteine-mediated oligomerizations, combinatorial associations and metabolic functionsMyonectin (CTRP15), a novel myokine that links skeletal muscle to systemic lipid homeostasisC1q/TNF-related protein-12 (CTRP12), a novel adipokine that improves insulin sensitivity and glycemic control in mouse models of obesity and diabetesA new strategy to identify and annotate human RPE-specific gene expression.Fundus autofluorescence, optical coherence tomography, and electroretinogram findings in choroidal sclerosisMolecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese population.Genetic basis of inherited macular dystrophies and implications for stem cell therapy.Endopeptidase cleavage generates a functionally distinct isoform of C1q/tumor necrosis factor-related protein-12 (CTRP12) with an altered oligomeric state and signaling specificityRare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.Gene profiling of postnatal Mfrprd6 mutant eyes reveals differential accumulation of Prss56, visual cycle and phototransduction mRNAs.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 degenerationMetabolic regulation by C1q/TNF-related protein-13 (CTRP13): activation OF AMP-activated protein kinase and suppression of fatty acid-induced JNK signalingAging, age-related macular degeneration, and the response-to-retention of apolipoprotein B-containing lipoproteins.Gene therapy in patient-specific stem cell lines and a preclinical model of retinitis pigmentosa with membrane frizzled-related protein defects.Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.Genetic factors of age-related macular degeneration.iPS Cells for Modelling and Treatment of Retinal DiseasesGene therapy for retinitis pigmentosa caused by MFRP mutations: human phenotype and preliminary proof of concept.Structural and functional anatomy of the globular domain of complement protein C1q.Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular DegenerationIs erythroferrone finally the long sought-after systemic erythroid regulator of iron?Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration.Regulation of tissue crosstalk by skeletal muscle-derived myonectin and other myokines.Adipo-myokines: two sides of the same coin--mediators of inflammation and mediators of exerciseLoss of CTRP5 improves insulin action and hepatic steatosisMembrane frizzled-related protein is necessary for the normal development and maintenance of photoreceptor outer segmentsMouse genetics and proteomic analyses demonstrate a critical role for complement in a model of DHRD/ML, an inherited macular degeneration.C1q tumor necrosis factor alpha-related protein isoform 5 is increased in mitochondrial DNA-depleted myocytes and activates AMP-activated protein kinase.Changes in C57BL6 Mouse Hippocampal Transcriptome Induced by Hypergravity Mimic Acute Corticosterone-Induced StressLoss of Zebrafish Mfrp Causes Nanophthalmia, Hyperopia, and Accumulation of Subretinal Macrophages.Metabolic function of the CTRP family of hormones.Genome-wide association study in RPGRIP1(-/-) dogs identifies a modifier locus that determines the onset of retinal degeneration.
P2860
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P2860
Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration.
description
2003 nî lūn-bûn
@nan
2003 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Mutation in a short-chain coll ...... -related macular degeneration.
@ast
Mutation in a short-chain coll ...... -related macular degeneration.
@en
Mutation in a short-chain coll ...... -related macular degeneration.
@nl
type
label
Mutation in a short-chain coll ...... -related macular degeneration.
@ast
Mutation in a short-chain coll ...... -related macular degeneration.
@en
Mutation in a short-chain coll ...... -related macular degeneration.
@nl
prefLabel
Mutation in a short-chain coll ...... -related macular degeneration.
@ast
Mutation in a short-chain coll ...... -related macular degeneration.
@en
Mutation in a short-chain coll ...... -related macular degeneration.
@nl
P2093
P50
P356
P1476
Mutation in a short-chain coll ...... -related macular degeneration.
@en
P2093
Alan F Wright
Alan Lennon
Ann H Milam
Artur V Cideciyan
Baljean Dhillon
Grace Hendry
Lindsay Sawyer
Nicholas D Hastie
Perdita Barran
Sepideh Zareparsi
P304
P356
10.1093/HMG/DDG289
P577
2003-08-27T00:00:00Z