Identification of a promoter for the human C1Q-tumor necrosis factor-related protein-5 gene associated with late-onset retinal degeneration

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Identification of a promoter for the human C1Q-tumor necrosis factor-related protein-5 gene associated with late-onset retinal degeneration is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1167/IOVS.10-5543
P932PMC publication ID3061496
P698PubMed publication ID20554618
P5875ResearchGate publication ID44679510

P50authorVenkata Ramana Murthy ChavaliQ92309312
Radha AyyagariQ92441786
P2093author name stringRobert M Petters
Jeffrey R Sommer
P2860cites workAn imprinted, mammalian bicistronic transcript encodes two independent proteinsQ22009553
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophyQ22009991
A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophyQ24290694
Molecular cloning and characterization of MFRP, a novel gene encoding a membrane-type Frizzled-related proteinQ24290958
Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiencyQ24311476
Identification of the gene responsible for Best macular dystrophyQ24315031
Comprehensive analysis of CpG islands in human chromosomes 21 and 22Q24531622
Expression of growth/differentiation factor 1 in the nervous system: conservation of a bicistronic structureQ24562092
Distinct protein forms are produced from alternatively spliced bicistronic glutamic acid decarboxylase mRNAs during developmentQ24608704
Analysis of the vertebrate insulator protein CTCF-binding sites in the human genomeQ24648552
High-resolution profiling of histone methylations in the human genomeQ27860906
CpG islands in vertebrate genomesQ27861045
Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophyQ28236562
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophyQ28248393
Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the proteinQ28251072
Promoter analysis of RPE65, the gene encoding a 61-kDa retinal pigment epithelium-specific proteinQ28264691
Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)Q28279264
Species-specific organization of CpG island promoters at mammalian homologous genesQ28343947
Molecular, 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 functionsQ28508387
Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6Q28591635
CTRP5 is a membrane-associated and secretory protein in the RPE and ciliary body and the S163R mutation of CTRP5 impairs its secretionQ28592306
MatInd and MatInspector: new fast and versatile tools for detection of consensus matches in nucleotide sequence dataQ29547902
Novel related cDNAs (C184L, C184M, and C184S) from developing mouse brain encoding two apparently unrelated proteinsQ30786805
Highly specific localization of promoter regions in large genomic sequences by PromoterInspector: a novel context analysis approachQ30850477
Age-related macular degeneration: a perspective on genetic studiesQ33284198
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 degenerationQ34226042
Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation.Q34445888
A survey of 178 NF-Y binding CCAAT boxesQ34456946
Long anterior lens zonules in late-onset retinal degeneration (L-ORD).Q34479430
Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5.Q34511566
Weight matrix descriptions of four eukaryotic RNA polymerase II promoter elements derived from 502 unrelated promoter sequencesQ34538483
Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degenerationQ36311846
Translation of the human LINE-1 element, L1HsQ36712171
Specific variants of general transcription factors regulate germ cell development in diverse organismsQ37202072
Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.Q37343519
C1q tumor necrosis factor alpha-related protein isoform 5 is increased in mitochondrial DNA-depleted myocytes and activates AMP-activated protein kinaseQ37459816
Alternative exon splicing controls a translational switch from activator to repressor isoforms of transcription factor CREB during spermatogenesis.Q38353971
Analysis of the VMD2 promoter and implication of E-box binding factors in its regulationQ40585958
Spatial and temporal expression of MFRP and its interaction with CTRP5.Q42504524
Developmental basis of nanophthalmos: MFRP Is required for both prenatal ocular growth and postnatal emmetropizationQ42548866
NF-Y organizes the gamma-globin CCAAT boxes regionQ47921646
Long anterior zonules and pigment dispersion.Q52552621
Gene clusters and polycistronic transcription in eukaryotes.Q52565038
CpG islands as gene markers in the human genome.Q52861073
Autosomal dominant hemorrhagic macular dystrophy not associated with the TIMP3 geneQ73356585
Stargardt-like macular dystrophy protein ELOVL4 exerts a dominant negative effect by recruiting wild-type protein into aggresomesQ81216908
P433issue11
P407language of work or nameEnglishQ1860
P304page(s)5499-5507
P577publication date2010-06-16
P1433published inInvestigative Ophthalmology Visual ScienceQ6060707
P1476titleIdentification of a promoter for the human C1Q-tumor necrosis factor-related protein-5 gene associated with late-onset retinal degeneration
P478volume51

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cites work (P2860)
Q39406649Cloning, characterization, and expression analysis of the pig (Sus scrofa) C1q tumor necrosis factor-related protein-5 gene
Q97549363Dual SMAD inhibition and Wnt inhibition enable efficient and reproducible differentiations of induced pluripotent stem cells into retinal ganglion cells
Q37561231Loss of Zebrafish Mfrp Causes Nanophthalmia, Hyperopia, and Accumulation of Subretinal Macrophages
Q34462080Membrane frizzled-related protein gene-related ophthalmological syndrome: 30-month follow-up of a sporadic case and review of genotype-phenotype correlation in the literature.

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