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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 08 Dec 2016.

C1q and tumor necrosis factor related protein 5

MFRP, LORD, RD6, C1QTNF5, CTRP5
This gene encodes a member of the a member of the C1q/tumor necrosis factor superfamily. The encoded protein may be a component of basement membranes and may play a role in cell adhesion. This gene is contained entirely within the 3' UTR of the membrane frizzled-related protein gene on chromosome 11q23 and both genes are expressed from a bicistronic transcript. Mutations in this gene have been associated with late-onset retinal degeneration.[provided by RefSeq, May 2010] (from NCBI)
Top mentioned proteins: Frizzled, AGE, HAD, CAN, ROD
Papers on MFRP
Identification of MFRP Mutations in Chinese Families with High Hyperopia.
New
Zhang et al., Shenzhen, China. In Optom Vis Sci, Jan 2016
PURPOSE: Mutations in MFRP have been reported to cause autosomal recessive posterior microphthalmia, nanophthalmos, and an ophthalmic syndrome characterized by posterior microphthalmia, high hyperopia, retinitis pigmentosa, foveoschisis, and optic disc drusen.
C1q tumor necrosis factor α-related protein isoform 5 attenuates palmitate-induced DNA fragmentation in myocytes through an AMPK-dependent mechanism.
New
Lee et al., Kyŏngju, South Korea. In Data Brief, Dec 2015
This article reports the data for the effects of C1q tumor necrosis factor α-related protein isoform 5 (CTRP5) on the palmitate-induced apoptosis in myocytes.
Pathological Effects of Mutant C1QTNF5 (S163R) Expression in Murine Retinal Pigment Epithelium.
New
Hauswirth et al., In Invest Ophthalmol Vis Sci, Oct 2015
PURPOSE: The mutation S163R in complement C1q tumor necrosis factor-related protein-5 (C1QTNF5) causes an autosomal dominant disorder known as late-onset retinal degeneration (L-ORD).
Effects of atorvastatin on oxidative stress in chronic kidney disease.
New
Coombes et al., Brisbane, Australia. In Nephrology (carlton), Jun 2015
METHODS: This was a pre-specified secondary analysis of data from a randomized, double-blind, placebo-controlled trial (Lipid lowering and Onset of Renal Disease, LORD) in CKD patients.
Improvement of retinal function in L-ORD after prolonged dark adaptation.
New
Browning et al., Newcastle upon Tyne, United Kingdom. In Can J Ophthalmol, Apr 2015
METHODS: International Society for Clinical Electrophysiology of Vision standard DA electroretinograms (ERGs) were performed before and after a period of extended dark adaptation (16 hours) in a cohort of patients heterozygous for the Ser163Arg mutation in C1QTNF5.
[Genotype-phenotype correlation in patients with PRPH2-mutations].
New
Rudolph et al., Tübingen, Germany. In Klin Monbl Augenheilkd, Mar 2015
Blood samples were taken for DNA extraction and mutation analysis of PRPH2 and ABCA4, BEST1, C1QTNF5, CDH3, CNGB3, ELOVL4, FSCN2, PROM1, RDH12, RP1L1, RPGR, TIMP3 was performed.
VAMMPIRE-LORD: a web server for straightforward lead optimization using matched molecular pairs.
New
Proschak et al., Frankfurt am Main, Germany. In J Chem Inf Model, Mar 2015
VAMMPIRE-LORD (lead optimization by rational design) describes an innovative strategy to improve the binding affinity of a defined lead compound using 3D matched molecular pairs (3D-MMPs).
Photoperiodic effects on seasonal physiology, reproductive status and hypothalamic gene expression in young male F344 rats.
New
Helfer et al., Aberdeen, United Kingdom. In J Neuroendocrinol, Feb 2015
Accompanying the changes in physiological status were major changes in hypothalamic thyroid hormone (Dio2 and Dio3), retinoic acid (Crabp1 and Stra6) and Wnt/β-Catenin signalling genes (sFrp2 and Mfrp).
Genetic analysis of axial length genes in high grade myopia from Indian population.
Sripriya et al., India. In Meta Gene, 2014
PURPOSE: To study the putative association of Membrane frizzled related protein (MFRP) and Visual system homeobox protein (VSX2) gene variants with axial length (AL) in myopia.
Genome Sequence of Rhodococcus sp. Strain RD6.2 DSM 46800, a Methanesulfonate-Degrading Strain.
De Marco et al., Portugal. In Genome Announc, 2014
strain RD6.2 DSM 46800, which was isolated from a brackish marsh sediment sample, is described here.
Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.
Ayuso et al., Philadelphia, United States. In Plos One, 2014
Two additional mutations linked to different forms of retinal dystrophies were identified in two families: a known frameshift deletion in RPGR, a gene responsible for X-linked retinitis pigmentosa and p.Ser163Arg in C1QTNF5 associated with Late-Onset Retinal Degeneration.
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.
Doosti et al., Tehrān, Iran. In Diabetol Metab Syndr, 2014
Complement-C1q TNF-related protein 5 (CTRP5) is a novel adipokine involved in the regulation of lipid and glucose metabolism.
Presence of rd8 mutation does not alter the ocular phenotype of late-onset retinal degeneration mouse model.
Ayyagari et al., Memphis, United States. In Mol Vis, 2014
METHODS: Mouse lines carrying the Ctrp5 S163R and rd8 mutations (Ctrp5+/-;rd8/rd8), corresponding controls without the rd8 mutation (Ctrp5+/-;wt/wt), and wild-type mice with and without the rd8 mutation (Wtrd8/rd8 and Wtwt/wt, respectively) were generated by systematic breeding of mice in our L-ORD mouse colony.
Novel compound heterozygous mutations in the MFRP gene in a Japanese patient with posterior microphthalmos.
GeneRIF
Tawara et al., Kitakyūshū, Japan. In Jpn J Ophthalmol, 2012
Posterior microphthalmos can be caused by nonsense compound heterozygous mutations in the MFRP gene.
Effects of aerobic exercise training on C1q tumor necrosis factor α-related protein isoform 5 (myonectin): association with insulin resistance and mitochondrial DNA density in women.
GeneRIF
Park et al., Seoul, South Korea. In J Clin Endocrinol Metab, 2012
A physiological function for C1QTNF5 (myonectin) in linking insulin resistance with quantitative changes in mtDNA.
174delG mutation in mouse MFRP causes photoreceptor degeneration and RPE atrophy.
GeneRIF
Besharse et al., Milwaukee, United States. In Invest Ophthalmol Vis Sci, 2011
The authors have identified a novel null mutation in mouse Mfrp. This mutation causes photoreceptor degeneration and eventual RPE atrophy, which may be related to alterations in the number of RPE microvilli.
Posterior microphthalmos pigmentary retinopathy syndrome.
GeneRIF
Kannabiran et al., Hyderābād, India. In Doc Ophthalmol, 2011
In both previous reports of PMPRS, mutations in membrane type frizzled-related protein (MFRP) gene (located at 11q23) was demonstrated to be present
Characterisation of a C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degeneration.
GeneRIF
Wright et al., Edinburgh, United Kingdom. In Plos One, 2010
pathogenic role of C1qtnf5 Ser163Arg mutation
Late-onset retinal macular degeneration: clinical insights into an inherited retinal degeneration.
Review
Dhillon et al., Edinburgh, United Kingdom. In Br J Ophthalmol, 2009
RESULTS: L-ORMD is a rare fully penetrant autosomal dominant condition resulting from a mutation in the C1QTNF5 gene on chromosome 11.
Retinal degeneration mutants in the mouse.
Review
Heckenlively et al., Bar Harbor, United States. In Vision Res, 2002
Sixteen naturally occurring mouse mutants that manifest degeneration of photoreceptors in the retina with preservation of all other retinal cell types have been found: retinal degeneration (formerly rd, identical with rodless retina, r, now Pde6b(rd1)); Purkinje cell degeneration (pcd); nervous (nr); retinal degeneration slow (rds, now Prph(Rd2)); retinal degeneration 3 (rd3); motor neuron degeneration (mnd); retinal degeneration 4 (Rd4); retinal degeneration 5 (rd5, now tub); vitiligo (vit, now Mitf(mi-vit)); retinal degeneration 6 (rd6); retinal degeneration 7 (rd7, now Nr2e3(rd7)); neuronal ceroid lipofuscinosis (nclf); retinal degeneration 8 (rd8); retinal degeneration 9 (Rd9); retinal degeneration 10 (rd10, now Pde6b(rd10)); and cone photoreceptor function loss (cpfl1).
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