Cited by 191Retinal Diseases and TreatmentsRetinal Development and DisordersRetinal Imaging and Analysis

The DOI matches its Crossref record; 30 of the 30 references it cites were found in a registry or an index.

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

Hayward, Caroline, Shu, Xinhua, Cideciyan, Artur V., Lennon, Alan, Barran, Perdita, Zareparsi, Sepideh, Sawyer, Lindsay, Hendry, Grace, Dhillon, Baljean, Milam, Ann H., Luthert, Philip J., Swaroop, Anand, Hastie, Nicholas D., Jacobson, Samuel G., Wright, Alan F.·2003·Human Molecular Genetics

DOI 10.1093/hmg/ddg289

Open this paper in CoChat — free account

Abstract

A primary feature of age-related macular degeneration (AMD) is the presence of extracellular deposits between the retinal pigment epithelium (RPE) and underlying Bruch's membrane, leading to RPE dysfunction, photoreceptor death and severe visual loss. AMD accounts for about 50% of blind registrations in Western countries and is a common, genetically complex disorder. Very little is known regarding its molecular basis. Late-onset retinal degeneration (L-ORD) is an autosomal dominant disorder with striking clinical and pathological similarity to AMD. Here we show that L-ORD is genetically heterogeneous and that a proposed founder mutation in the CTRP5 (C1QTNF5) gene, which encodes a novel short-chain collagen, changes a highly conserved serine to arginine (Ser163Arg) in 7/14 L-ORD families and 0/1000 control individuals. The mutation occurs in the gC1q domain of CTRP5 and results in abnormal high molecular weight aggregate formation which may alter its higher-order structure and interactions. These results indicate a novel disease mechanism involving abnormal adhesion between RPE and Bruch's membrane.

Integrity signals

Registry

Crossref · 10.1093/hmg/ddg289

Cites

30 of 30 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

SWISS‐MODEL and the Swiss‐Pdb Viewer: An environment for comparative protein modeling
Guex, N., & Peitsch, M. C. (1997) · Electrophoresis · doi:10.1002/elps.1150181505 · Cited by 11,312
A high-resolution recombination map of the human genome
Kong, A., Gudbjartsson, D. F., Sainz, J., Jonsdottir, G. M., Gudjonsson, S. A., Richardsson, B., Sigurdardottir, S. L., Barnard, J., Hallbeck, B., Másson, G., et al. (2002) · Nature Genetics · doi:10.1038/ng917 · Cited by 1,750
Drusen proteome analysis: an approach to the etiology of age-related macular degeneration
Crabb, J. W., Miyagi, M., Gu, X., Shadrach, K., West, K. A., Sakaguchi, H., Kamei, M., Hasan, A., Yan, L., Rayborn, M. E., et al. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.222551899 · Cited by 1,208
Age-related Macular Degeneration Histopathologic Studies
Green, W. R., & Enger, C. (1993) · Ophthalmology · doi:10.1016/s0161-6420(93)31466-1 · Cited by 757
A novel function for tissue inhibitor of metalloproteinases-3 (TIMP3): inhibition of angiogenesis by blockage of VEGF binding to VEGF receptor-2
Qi, J. H., Ebrahem, Q., Moore, N., Murphy, G., Claesson-Welsh, L., Bond, M., Baker, A., & Anand-Apte, B. (2003) · Nature Medicine · doi:10.1038/nm846 · Cited by 658
Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy
Weber, B. H. F., Vogt, G., Pruett, R. C., Stöhr, H., & Felbor, U. (1994) · Nature Genetics · doi:10.1038/ng1294-352 · Cited by 656
The crystal structure of a complement-1q family protein suggests an evolutionary link to tumor necrosis factor
Shapiro, L. S., & Scherer, P. E. (1998) · Current Biology · doi:10.1016/s0960-9822(98)70133-2 · Cited by 652
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
Stone, E. M., Lotery, A. J., Munier, F. L., Héon, E., Piguet, B., Guymer, R. H., Vandenburgh, K., Cousin, P., Nishimura, D. Y., Swiderski, R. E., et al. (1999) · Nature Genetics · doi:10.1038/9722 · Cited by 488
C1q: Structure, function, and receptors
Kishore, U., & Reid, K. B. M. (2000) · Immunopharmacology · doi:10.1016/s0162-3109(00)80301-x · Cited by 480
Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy
Biswas, S. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.21.2415 · Cited by 394

Show all 30 references

Research works printed but not linked: 1

Seddon, J.M. ( 2001 ) Age-related macular degeneration. In Ryan, S.J. (ed.), Retina (3rd edn), Mosby, St Louis, MO, pp. 1039 –1050.

Sorted by citations

Dark adaptation and the retinoid cycle of vision
Lamb, T. D., & Pugh, E. N. (2004) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2004.03.001 · Cited by 725
Molecular mechanisms of light-induced photoreceptor apoptosis and neuroprotection for retinal degeneration
Wenzel, A., Grimm, C., Samardzija, M., & Remé, C. E. (2004) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2004.08.002 · Cited by 655
The dynamic nature of Bruch's membrane
Booij, J. C., Baas, D. C., Beisekeeva, J., Gorgels, T. G. M. F., & Bergen, A. A. B. (2010) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2009.08.003 · Cited by 581
“For at least two of these genes, a corresponding animal model (CTPR5 -/-)[164], Fibl-3[165] showing AMD like features, is available.”
C1q and tumor necrosis factor superfamily: modularity and versatility
Kishore, U., Gaboriaud, C., Waters, P. J., Shrive, A. K., Greenhough, T. J., Reid, K. B. M., Sim, R. B., & Arlaud, G. J. (2004) · Trends in Immunology · doi:10.1016/j.it.2004.08.006 · Cited by 437
Myonectin (CTRP15), a novel myokine that links skeletal muscle to systemic lipid homeostasis
Seldin, M. M., Peterson, J. M., Byerly, M. S., Wei, Z., & Wong, G. W. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.336834 · Cited by 406
“(31), we propose that CTRP5 retains its original designation (20, 33) and CTRP15 retains its current designation as myonectin to prevent confusion in nomenclature.”
Background
Molecular, biochemical and functional characterizations of C1q/TNF family members: adipose-tissue-selective expression patterns, regulation by PPAR-γ agonist, cysteine-mediated oligomerizations, combinatorial associations and metabolic functions
Wong, G. W., Krawczyk, S. A., Kitidis-Mitrokostas, C., Revett, T., Gimeno, R., & Lodish, H. F. (2008) · Biochemical Journal · doi:10.1042/bj20081240 · Cited by 371
Missense Variations in the Fibulin 5 Gene and Age-Related Macular Degeneration
Stone, E. M., Braun, T. A., Russell, S. R., Kuehn, M. H., Lotery, A. J., Moore, P. A., Eastman, C. G., Casavant, T. L., & Sheffield, V. C. (2004) · New England Journal of Medicine · doi:10.1056/nejmoa040833 · Cited by 324
Soft Drusen in Age-Related Macular Degeneration: Biology and Targeting Via the Oil Spill Strategies
Curcio, C. A. (2018) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.18-24882 · Cited by 322
CTRP family: linking immunity to metabolism
Schäffler, A., & Buechler, C. (2012) · Trends in Endocrinology and Metabolism · doi:10.1016/j.tem.2011.12.003 · Cited by 305
Adipo-myokines: two sides of the same coin–mediators of inflammation and mediators of exercise
Raschke, S., & Eckel, J. (2013) · Mediators of Inflammation · doi:10.1155/2013/320724 · Cited by 296
Aging, age-related macular degeneration, and the response-to-retention of apolipoprotein B-containing lipoproteins
Curcio, C. A., Johnson, M., Huang, J.-D., & Rudolf, M. (2009) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2009.08.001 · Cited by 293
“A widespread, thick BlamD associated with mutations of the C1QTNF5 (CTRP5) short-chain collagen gene (Hayward et al., 2003) have abundant EC and UC, apoB immunoreactivity, and linear tracks of contiguous electron-dense solid particles (Milam et al.”
Unraveling a Multifactorial Late-Onset Disease: From Genetic Susceptibility to Disease Mechanisms for Age-Related Macular Degeneration
Swaroop, A., Chew, E. Y., Bowes Rickman, C., & Abecasis, G. R. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164350 · Cited by 270
“A gene (C1QTNF5) mutated in patients with an autosomal dominant late-onset retinal/macular degeneration with sub-RPE deposits similar to AMD has also been examined (68).”
Self-citation
Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence
Cideciyan, A. V., Alemán, T. S., Świder, M., Schwartz, S., Steinberg, J. D., Brucker, A. J., Maguire, A. M., Bennett, J., Stone, E. M., & Jacobson, S. G. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh048 · Cited by 268
“subject and intra-retinal variation and progression on serial measurements ( 48-50 ).”
BackgroundMethodSelf-citation
Metabolic function of the CTRP family of hormones
Seldin, M. M., Tan, S. Y., & Wong, G. W. (2013) · Reviews in Endocrine and Metabolic Disorders · doi:10.1007/s11154-013-9255-7 · Cited by 249
Physiological role of collagen XVIII and endostatin
Marneros, A. G., & Olsen, B. R. (2005) · The FASEB Journal · doi:10.1096/fj.04-2134rev · Cited by 231
“retinal degeneration, also characterized by abnormal deposits under the RPE (84).”
Background
Differentiating drusen: Drusen and drusen-like appearances associated with ageing, age-related macular degeneration, inherited eye disease and other pathological processes
Khan, K. N., Mahroo, O. A., Khan, R. S., Mohamed, M. D., McKibbin, M., Bird, A. C., Michaelides, M., Tufail, A., & Moore, A. T. (2016) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2016.04.008 · Cited by 231
C1q and its growing family
Ghai, R., Waters, P. J., Roumenina, L. T., Gadjeva, M. G., Kojouharova, M. S., Reid, K. B. M., Sim, R. B., & Kishore, U. (2006) · Immunobiology · doi:10.1016/j.imbio.2006.11.001 · Cited by 212
Structural and functional anatomy of the globular domain of complement protein C1q
Kishore, U., Ghai, R., Greenhough, T. J., Shrive, A. K., Bonifati, D. M., Gadjeva, M. G., Waters, P. J., Kojouharova, M. S., Chakraborty, T., & Agrawal, A. C. (2004) · Immunology Letters · doi:10.1016/j.imlet.2004.06.015 · Cited by 197
Extreme hyperopia is the result of null mutations in MFRP , which encodes a Frizzled-related protein
Sundin, O. H., Leppert, G. S., Silva, E. D., Yang, J.-M., Dharmaraj, S., Maumenee, I. H., Santos, L. C., Parsa, C. F., Traboulsi, E. I., Broman, K. W., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0501451102 · Cited by 191
Basal deposits and drusen in eyes with age-related maculopathy: Evidence for solid lipid particles
Curcio, C. A., Presley, J. B., Millican, C. L., & Medeiros, N. E. (2005) · Experimental Eye Research · doi:10.1016/j.exer.2004.09.017 · Cited by 171
High-Resolution In Vivo Imaging of the RPE Mosaic in Eyes with Retinal Disease
Roorda, A., Zhang, Y., & Duncan, J. L. (2007) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.06-1450 · Cited by 173
Structure, Function, and Pathology of Bruch's Membrane
Curcio, C. A., & Johnson, M. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4557-0737-9.00020-5 · Cited by 176
A novel adipokine CTRP1 stimulates aldosterone production
Jeon, J. H., Kim, K., Kim, J. H., Baek, A., Cho, H., Lee, Y., Kim, J. W., Kim, D., Han, S. H., Lim, J., et al. (2008) · The FASEB Journal · doi:10.1096/fj.07-9412com · Cited by 167
C1q/TNF-related Protein-12 (CTRP12), a Novel Adipokine That Improves Insulin Sensitivity and Glycemic Control in Mouse Models of Obesity and Diabetes
Wei, Z., Peterson, J. M., Lei, X., Cebotaru, L., Wolfgang, M. J., Baldeviano, G. C., & Wong, G. W. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.303651 · Cited by 164
The Genomic, Biochemical, and Cellular Responses of the Retina in Inherited Photoreceptor Degenerations and Prospects for the Treatment of These Disorders
Bramall, A. N., Wright, A. F., Jacobson, S. G., & McInnes, R. R. (2010) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-060909-153227 · Cited by 152
Self-citation
Measuring the Contributions of Basal Laminar Deposit and Bruch’s Membrane in Age-Related Macular Degeneration
Sura, A. A., Chen, L., Messinger, J. D., Swain, T. A., McGwin, G., Freund, K. B., & Curcio, C. A. (2020) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.61.13.19 · Cited by 148
“66,77 Aged monkeys may naturally exhibit soft drusen, but lack BLamD and do not progress to atrophy or NV, 78 suggesting that BLamD is required for drusen that progress.”
Reticular pseudodrusen: A critical phenotype in age-related macular degeneration
Wu, Z., Fletcher, E. L., Kumar, H., Greferath, U., & Guymer, R. H. (2021) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2021.101017 · Cited by 147
Causes and consequences of inherited cone disorders
Roosing, S., Thiadens, A. A. H. J., Hoyng, C. B., Klaver, C. C. W., den Hollander, A. I., & Cremers, F. P. M. (2014) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2014.05.001 · Cited by 147
“It was proposed that mutant CTRP5, which is secreted by the RPE, is unable to fulfill its adhesive property between the RPE and Bruch's membrane (Hayward et al., 2003).”
The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice
Fu, L., Garland, D. L., Yang, Z., Shukla, D., Rajendran, A., Pearson, E., Stone, E. M., Zhang, K., & Pierce, E. A. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm198 · Cited by 146
Metabolic Regulation by C1q/TNF-related Protein-13 (CTRP13)
Wei, Z., Peterson, J. M., & Wong, G. W. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.201087 · Cited by 133
Late-Onset Macular Degeneration and Long Anterior Lens Zonules Result from a CTRP5 Gene Mutation
Ayyagari, R., Mandal, M. N. A., Karoukis, A. J., Chen, L., McLaren, N. C., Lichter, M., Wong, D. T., Hitchcock, P. F., Caruso, R. C., Moroi, S. E., et al. (2005) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.05-0159 · Cited by 130
“The macular findings have phenotypic overlap with Sorsby fundus dystrophy,(8) lateonset macular degeneration associated with RDS peripherin gene mutations,(9) age-related macular degeneration (AMD),(10) and late-onset retinal degeneration (L-ORD).(11) Co-occurrence of LAZ with macular degeneration has not been reporte…”
BackgroundMethodResultInfluential
Genetic Variants at 13q12.12 Are Associated with High Myopia in the Han Chinese Population
Shi, Y., Qu, J., Zhang, D., Zhao, P., Zhang, Q., Tam, P. O. S., Sun, L., Zuo, X., Zhou, X., Xiao, X., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.04.022 · Cited by 121
Retinitis Pigmentosa and Allied Disorders
Gregory-Evans, K., Pennesi, M. E., & Weleber, R. G. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4557-0737-9.00040-0 · Cited by 112
C1q Tumor Necrosis Factor α-related Protein Isoform 5 Is Increased in Mitochondrial DNA-depleted Myocytes and Activates AMP-activated Protein Kinase
Park, S., Choi, J. H., Ryu, H. S., Pak, Y. K., Park, K. S., Lee, H. K., & Lee, W. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.005611 · Cited by 107
Macular dystrophies mimicking age-related macular degeneration
Saksens, N. T. M., Fleckenstein, M., Schmitz-Valckenberg, S., Holz, F. G., den Hollander, A. I., KEUNEN, J. E. E., Boon, C. J. F., & Hoyng, C. B. (2013) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2013.11.001 · Cited by 104
“LORD is a genetically heterogeneous disease with an autosomal-dominant inheritance pattern (Hayward et al., 2003; Kuntz et al., 1996) caused by a heterozygous p.”
BackgroundInfluential
Genetic factors of age-related macular degeneration
Tuo, J., Bojanowski, C. M., & Chan, C. (2004) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2004.02.001 · Cited by 100
“CTRP5 has recently been reported as the causal gene of late-onset retinal degeneration (L-ORD), an autosomal dominant disorder with striking clinical and pathological similarity to AMD (Hayward et al., 2003).”
BackgroundInfluential
C1qTNF–related protein-1 (CTRP-1): a vascular wall protein that inhibits collagen-induced platelet aggregation by blocking VWF binding to collagen
Lasser, G., Guchhait, P., Ellsworth, J. L., Sheppard, P. O., Lewis, K., Bishop, P. D., Crúz, M. A., López, J. A., & Fruebis, J. (2005) · Blood · doi:10.1182/blood-2005-04-1425 · Cited by 98
Gene Therapy in Patient-specific Stem Cell Lines and a Preclinical Model of Retinitis Pigmentosa With Membrane Frizzled-related Protein Defects
Li, Y., Wu, W.-H., Hsu, C.-W., Nguyen, H. V., Tsai, Y., Chan, L., Nagasaki, T., Maumenee, I. H., Yannuzzi, L. A., Hoang, Q. V., et al. (2014) · Molecular Therapy · doi:10.1038/mt.2014.100 · Cited by 84
Correlating Changes in Collagen Secondary Structure with Aging and Defective Type II Collagen by Raman Spectroscopy
Dehring, K. A., Smukler, A. R., Roessler, B. J., & Morris, M. D. (2006) · Applied Spectroscopy · doi:10.1366/000370206776593582 · Cited by 82
CTRP5 Is a Membrane-Associated and Secretory Protein in the RPE and Ciliary Body and the S163R Mutation of CTRP5 Impairs Its Secretion
Mandal, M. N. A., Vasireddy, V., Reddy, G. B., Wang, X., Moroi, S. E., Pattnaik, B. R., Hughes, B. A., Heckenlively, J. R., Hitchcock, P. F., Jablonski, M. M., et al. (2006) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.06-0312 · Cited by 80
“Some of the genes associated with monogenic macular degenerations are expressed in photoreceptors (ELOVL4, RDS, RPGR, ABCA4, and FSCN2) and are thought to have a role in maintaining the structure and/or physiological function of photoreceptor cells.19–23 The remaining genes associated with the macular degenerations ar…”
BackgroundResultInfluential
A New Strategy to Identify and Annotate Human RPE-Specific Gene Expression
Booij, J. C., ten Brink, J. B., Swagemakers, S. M. A., Verkerk, A. J. M. H., Essing, A. H. W., van der Spek, P. J., & Bergen, A. A. B. (2010) · PLoS ONE · doi:10.1371/journal.pone.0009341 · Cited by 78
“C1QTNF5 NM_015645 7 cDNA library, RT-PCR [44,45] 1”
Spatial and Temporal Expression of MFRP and Its Interaction with CTRP5
Mandal, M. N. A., Vasireddy, V., Jablonski, M. M., Wang, X., Heckenlively, J. R., Hughes, B. A., Reddy, G. B., & Ayyagari, R. (2006) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.06-0449 · Cited by 78
“Highest level of expression of Ctrp5 and Mfrp was observed in the RPE and CE, the tissues involved in the pathogenesis of nanophthalmos, recessive retinal degeneration and L-ORD.(6,10,11) In both RPE and CE, we observed colocalization of these proteins (Figs.”
BackgroundMethod
Regulation of tissue crosstalk by skeletal muscle-derived myonectin and other myokines
Seldin, M. M., & Wong, G. W. (2012) · Adipocyte · doi:10.4161/adip.20877 · Cited by 69
Frequency, Phenotypic Characteristics and Progression of Atrophy Associated With a Diseased Bruch's Membrane in Pseudoxanthoma Elasticum
Gliem, M., Müller, P. L., Birtel, J., Hendig, D., Holz, F. G., & Issa, P. C. (2016) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.16-19388 · Cited by 68
A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration
Chavali, V. R. M., Khan, N. W., Cukras, C. A., Bartsch, D., Jablonski, M. M., & Ayyagari, R. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr080 · Cited by 67
“G point mutation (S163R) in the Ctrp5 gene associated with human L-ORD (9).”
BackgroundInfluential
C1qTNF-Related Protein-6 Increases the Expression of Interleukin-10 in Macrophages
Kim, M. J., Lee, W., Park, E., & Park, S. (2010) · Molecules and Cells · doi:10.1007/s10059-010-0088-x · Cited by 68
“…et al., 2005), platelet aggregation (Lasser et al., 2006), chondrogenesis and cartilage development (Maeda et al., 2006), aldosterone pro-duction (Wong et al., 2009), cell proliferation (Akiyama et al., 2007), and extracellular matrix-related functions (Ayyagari et al., 2005; Hayward et al., 2003).”
Background
Proline metabolism and transport in retinal health and disease
Du, J., Zhu, S., Lim, R. R., & Chao, J. R. (2021) · Amino Acids · doi:10.1007/s00726-021-02981-1 · Cited by 66
Full-field stimulus testing: Role in the clinic and as an outcome measure in clinical trials of severe childhood retinal disease
Román, A. J., Cideciyan, A. V., Wu, V. F., Garafalo, A. V., & Jacobson, S. G. (2021) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2021.101000 · Cited by 63
Self-citation
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration
Ratnapriya, R., Zhan, X., Fariss, R. N., Branham, K. E. H., Zipprer, D., Chakarova, C. F., Sergeev, Y. V., Campos, M. M., Othman, M., Friedman, J. S., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu276 · Cited by 66
“Genetic variants in components of the ECM and associated signaling pathways are implicated in early- (TIMP3, EFEMP1) (2) and late- (CTRP5) (19,20) onset inherited macular degeneration as well as in AMD (TIMP3, TGFBR1, COL8A1 and COL10A1) (8,9).”
BackgroundInfluentialSelf-citation
CTRP5 promotes transcytosis and oxidative modification of low-density lipoprotein and the development of atherosclerosis
Li, C., Chen, J. W., Liu, Z. H., Shen, Y. H., Ding, F. H., Gu, G., Liu, J., Qiu, J. P., Gao, J., Zhang, R., et al. (2018) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2018.09.037 · Cited by 63
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families
Martín-Mérida, I., Aguilera‐Garcia, D., Jose, P. F.-S., Blanco‐Kelly, F., Zurita, O., Almoguera, B., García‐Sandoval, B., Ávila‐Fernández, A., Arteche‐López, A., Mínguez, P., et al. (2018) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.18-23854 · Cited by 61
Genetic risk for metabolic syndrome: examination of candidate gene polymorphisms related to lipid metabolism in Japanese people
Yamada, Y., Ichihara, S., Kato, K., Yoshida, T., Yokoi, K., Matsuo, H., Watanabe, S., Metoki, N., Yoshida, H., Satoh, K., et al. (2007) · Journal of Medical Genetics · doi:10.1136/jmg.2007.052415 · Cited by 58
Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5
Shu, X., Tulloch, B., Lennon, A., Vlachantoni, D., Zhou, X., Hayward, C., & Wright, A. F. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl091 · Cited by 57
“The primary antibodies [anti-human C1QTNF5 antibody raised in rabbit immunized with purified thioredoxin fused gC1q domain (10), anti-human MFRP antibody raised in goat immunized with purified recombinant human MFRP C-terminal extracellular domain (R&D Systems, Cat.”
BackgroundInfluentialSelf-citation
Late-onset retinal macular degeneration: clinical insights into an inherited retinal degeneration
Borooah, S., Collins, C. E., Wright, A. F., & Dhillon, B. (2008) · Postgraduate Medical Journal · doi:10.1136/bjo.2008.150151 · Cited by 58
“Gross inspection revealed that the deposits are present throughout the retina extending to the ora serrata.”
BackgroundSelf-citation
Retinal pigment epithelium cholesterol efflux mediated by the 18 kDa translocator protein, TSPO, a potential target for treating age-related macular degeneration
Biswas, L., Zhou, X., Dhillon, B., Graham, A., & Shu, X. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx319 · Cited by 57
Self-citation
Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies
Manley, A., Meshkat, B. I., Jablonski, M. M., & Hollingsworth, T. (2023) · Biomolecules · doi:10.3390/biom13020271 · Cited by 61
Proteomic Landscape of the Human Choroid–Retinal Pigment Epithelial Complex
Skeie, J. M., & Mahajan, V. B. (2014) · JAMA Ophthalmology · doi:10.1001/jamaophthalmol.2014.2065 · Cited by 56
C1qTNF‐related protein‐6 mediates fatty acid oxidation via the activation of the AMP‐activated protein kinase
Lee, W., Kim, M. J., Park, E., Choi, Y., & Park, S. (2010) · FEBS Letters · doi:10.1016/j.febslet.2010.01.040 · Cited by 55
Mouse genetics and proteomic analyses demonstrate a critical role for complement in a model of DHRD/ML, an inherited macular degeneration
Garland, D. L., Fernández‐Godino, R., Kaur, I., Speicher, K. D., Harnly, J. M., Lambris, J. D., Speicher, D. W., & Pierce, E. A. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt395 · Cited by 54
Membrane frizzled-related protein is necessary for the normal development and maintenance of photoreceptor outer segments
Won, J., Smith, R. S., Peachey, N. S., WU, J., Hicks, W. L., Naggert, J. Κ., & Nishina, P. M. (2008) · Visual Neuroscience · doi:10.1017/s0952523808080723 · Cited by 53
“It is interesting to note that a mutation in the C1q domain of human C1QTNF5, found in patients with L-ORD (Hayward et al., 2003; Ayyagari et al., 2005), is associated with drusen-like deposits with subsequent retinal degeneration.”
Background
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
Lim, S. K., Choi, S. H., Koo, B. K., Kang, S. M., Yoon, J. W., Jang, H. C., Choi, S. M., Lee, M. G., Lee, W., Shin, H., et al. (2011) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2011-1743 · Cited by 52
Expression of a Secretory Protein C1qTNF6, a C1qTNF Family Member, in Hepatocellular Carcinoma
Takeuchi, T., Adachi, Y., & Nagayama, T. (2011) · Analytical Cellular Pathology · doi:10.1155/2011/578097 · Cited by 52
Complete Transcriptome Profiling of Normal and Age-Related Macular Degeneration Eye Tissues Reveals Dysregulation of Anti-Sense Transcription
Kim, E. J., Grant, G. R., Bowman, A. S., Haider, N., Gudiseva, H. V., & Chavali, V. R. M. (2018) · Scientific Reports · doi:10.1038/s41598-018-21104-7 · Cited by 53
Endopeptidase Cleavage Generates a Functionally Distinct Isoform of C1q/Tumor Necrosis Factor-related Protein-12 (CTRP12) with an Altered Oligomeric State and Signaling Specificity
Wei, Z., Lei, X., Seldin, M. M., & Wong, G. W. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.365965 · Cited by 49
Targeting Lipid Metabolism for the Treatment of Age-Related Macular Degeneration: Insights from Preclinical Mouse Models
Landowski, M., & Rickman, C. B. (2021) · Journal of Ocular Pharmacology and Therapeutics · doi:10.1089/jop.2021.0067 · Cited by 48
Loss of CTRP5 improves insulin action and hepatic steatosis
Lei, X., Rodriguez, S., Petersen, P. S., Seldin, M. M., Bowman, C. E., Wolfgang, M. J., & Wong, G. W. (2016) · American Journal of Physiology-Endocrinology and Metabolism · doi:10.1152/ajpendo.00010.2016 · Cited by 46
Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies
Rodríguez‐Muñoz, A., Aller, E., Jaijo, T., García, E. G., Cabrera-Peset, A., Gallego-Pinazo, R., Udaondo, P., Salom, D., García‐García, G., & Millán, J. M. (2020) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2020.01.003 · Cited by 46
Pseudoxanthoma elasticum – Genetics, pathophysiology, and clinical presentation
Pfau, K., Lengyel, I., Norel, J. O., van Leeuwen, R., Risseeuw, S., Lefthériotis, G., Scholl, H. P. N., Feltgen, N., Holz, F. G., & Pfau, M. (2024) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2024.101274 · Cited by 43
“L-ORD is an autosomal-dominant disease due to mutations in the C1QTNF/CTRP5 gene, mainly expressed in the RPE and ciliary epithelium (Ayyagari et al., 2005; Hayward et al., 2003).”
Background
Gene Therapy for Retinitis Pigmentosa Caused by MFRP Mutations: Human Phenotype and Preliminary Proof of Concept
Dinculescu, A., Estreicher, J., Zenteno, J. C., Alemán, T. S., Schwartz, S., Huang, W., Román, A. J., Sumaroka, A., Li, Q., Deng, W., et al. (2011) · Human Gene Therapy · doi:10.1089/hum.2011.169 · Cited by 43
“CTRP5 also has a human disease association; specifically, a Ser163Arg mutation causes an autosomal dominant late-onset retina-wide degeneration, which can feature neovascular macular degeneration (Milam et al., 2000; Jacobson et al., 2001; Hayward et al., 2003).”
BackgroundSelf-citation
Long Anterior Lens Zonules in Late-Onset Retinal Degeneration (L-ORD)
Subrayan, V., Morris, B., Armbrecht, A. M., Wright, A. F., & Dhillon, B. (2005) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2005.06.023 · Cited by 43
Self-citation
LONGITUDINAL STRUCTURAL CHANGES IN LATE-ONSET RETINAL DEGENERATION
Cukras, C. A., Flamendorf, J., Wong, W. T., Ayyagari, R., Cunningham, D., & Sieving, P. A. (2016) · Retina · doi:10.1097/iae.0000000000001113 · Cited by 42
Real-time quantitative monitoring of hiPSC-based model of macular degeneration on Electric Cell-substrate Impedance Sensing microelectrodes
Gamal, W., Borooah, S., Smith, S., Underwood, I., Srsen, V., Chandran, S., Bagnaninchi, P., & Dhillon, B. (2015) · Biosensors and Bioelectronics · doi:10.1016/j.bios.2015.04.079 · Cited by 41
“The normal function of C1QTNF5 is currently unknown, however in the eye; it is thought to play a part in interactions between the RPE and the underlying basement membrane since the protein is secreted by the RPE and then attaches to the baso-lateral RPE plasma membrane (Mandal et al., 2006).”
BackgroundInfluentialSelf-citation
Phenotypic findings in C1QTNF5 retinopathy (late‐onset retinal degeneration)
Soumplis, V., Sergouniotis, P. I., Robson, A. G., Michaelides, M., Moore, A. T., Holder, G. E., & Webster, A. R. (2013) · Acta Ophthalmologica · doi:10.1111/aos.12010 · Cited by 40
“Importantly, one in two of LORD families carry a p.Ser163Arg mutation in the C1QTNF5 gene (Hayward et al. 2003).”
Background
Genetic Associations of Primary Angle-Closure Disease
Rong, S. S., Tang, F. Y., Chu, W. K., Ma, L., Yam, J. C. S., Tang, S. M., Li, J., Gu, H., Young, A. L., Tham, C. C. Y., et al. (2016) · Ophthalmology · doi:10.1016/j.ophtha.2015.12.027 · Cited by 40
Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration
Duvvari, M. R., van de Ven, J. P. H., Geerlings, M. J., Saksens, N. T. M., Bakker, B., Henkes, A., Neveling, K., del Rosario, M., Westra, D., van den Heuvel, L. P., et al. (2016) · PLoS ONE · doi:10.1371/journal.pone.0152047 · Cited by 40
Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration
Stanton, C. M., Borooah, S., Drake, C., Marsh, J. A., Campbell, S. E., Lennon, A., Soares, D. C., Vallabh, N. A., Sahni, J., Cideciyan, A. V., et al. (2017) · Scientific Reports · doi:10.1038/s41598-017-11898-3 · Cited by 40
Self-citation
AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration
Miyagishima, K. J., Sharma, R., Nimmagadda, M., Clore-Gronenborn, K., Qureshy, Z., Ortolan, D., Bose, D., Farnoodian, M., Zhang, C., Fausey, A., et al. (2021) · Communications Biology · doi:10.1038/s42003-021-02872-x · Cited by 43
Loss of Zebrafish Mfrp Causes Nanophthalmia, Hyperopia, and Accumulation of Subretinal Macrophages
Collery, R. F., Volberding, P. J., Bostrom, J. R., Link, B. A., & Besharse, J. C. (2016) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.16-19593 · Cited by 39
Molecular Testing for Hereditary Retinal Disease as Part of Clinical Care
Downs, K. (2007) · Archives of Ophthalmology · doi:10.1001/archopht.125.2.252 · Cited by 39
“A missense mutation, S163R in the C10 tumor necrosis factor–related protein 5 (C1QTNF5/CTRP5) gene, was identified in families with autosomal dominant lateonset retinal degeneration and early-onset abnormal anterior lens zonules.(16,23) Two patients from a large family known to carry the S163R mutation were referred f…”
Background
Crystal structure of the globular domain of C1QTNF5: Implications for late-onset retinal macular degeneration
Tu, X., & Palczewski, K. (2012) · Journal of Structural Biology · doi:10.1016/j.jsb.2012.07.011 · Cited by 37
“The S163R mutant was shown to be unstable and prone to aggregation (Hayward et al., 2003).”
Influential
THE CHARACTERIZATION OF RETINAL PHENOTYPE IN A FAMILY WITH C1QTNF5-RELATED LATE-ONSET RETINAL DEGENERATION
Vincent, A., Munier, F. L., VandenHoven, C., Wright, T., Westall, C. A., & Héon, E. (2012) · Retina · doi:10.1097/iae.0b013e318240a574 · Cited by 36
“Late-onset retinal degeneration (LORD) is a rare, fully penetrant, autosomal dominant ocular disease caused by a Ser163Arg mutation in the C1QTNF5 gene.(1) Affected subjects usually first manifest with symptoms of nyctalopia in their forties or later.”
Background
Longitudinal adaptive optics fluorescence microscopy reveals cellular mosaicism in patients
Jung, H., Liu, J., Liu, T., George, A., Smelkinson, M. G., Cohen, S., Sharma, R., Schwartz, O., Maminishkis, A., Bharti, K., et al. (2019) · JCI Insight · doi:10.1172/jci.insight.124904 · Cited by 35
Genome-wide association study in RPGRIP1 −/− dogs identifies a modifier locus that determines the onset of retinal degeneration
Miyadera, K., Kato, K., Boursnell, M. E. G., Mellersh, C. S., & Sargan, D. R. (2011) · Mammalian Genome · doi:10.1007/s00335-011-9384-9 · Cited by 34
“It should be noted that the clinical subgroup LORD defined in the current study is not the direct homolog of the human condition, L-ORD (late-onset retinal degeneration), which has been molecularly characterized (Hayward et al. 2003; Jacobson et al. 2001; Milam et al. 2000).”
The nanophthalmos protein TMEM98 inhibits MYRF self-cleavage and is required for eye size specification
Cross, S. H., McKie, L., Hurd, T. W., Riley, S., Wills, J. C., Barnard, A. R., Young, F., MacLaren, R. E., & Jackson, I. J. (2020) · PLoS Genetics · doi:10.1371/journal.pgen.1008583 · Cited by 31
Secretory proteostasis of the retinal pigmented epithelium: Impairment links to age-related macular degeneration
Paraoan, L., Sharif, U., Carlsson, E., Supharattanasitthi, W., Mahmud, N. M., Kamalden, T. A., Hiscott, P. S., Jackson, M. J., & Grierson, I. (2020) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2020.100859 · Cited by 31
A COMMON FINDING IN FOVEAL-SPARING EXTENSIVE MACULAR ATROPHY WITH PSEUDODRUSEN IMPLICATES BASAL LAMINAR DEPOSITS
Fragiotta, S., Parravano, M., Sacconi, R., Costanzo, E., Viggiano, P., Prascina, F., Capuano, V., Souied, E. H., & Querques, G. (2022) · Retina · doi:10.1097/iae.0000000000003463 · Cited by 32
Membrane‐type frizzled‐related protein regulates lipidome and transcription for photoreceptor function
Kautzmann, M.-A. I., Gordon, W. C., Jun, B., Do, K. V., Matherne, B., Fang, Z., & Bazan, N. G. (2019) · The FASEB Journal · doi:10.1096/fj.201902359r · Cited by 30
Late‐onset retinal degeneration pathology due to mutations in CTRP5 is mediated through HTRA1
Chekuri, A., Zientara‐Rytter, K., Soto‐Hermida, A., Borooah, S., Voronchikhina, M., Biswas, P., Kumar, V., Goodsell, D. S., Hayward, C., Shaw, P. X., et al. (2019) · Aging Cell · doi:10.1111/acel.13011 · Cited by 30
Self-citation
Retinitis Pigmentosa and Allied Disorders
Weleber, R. G., & Gregory-Evans, K. (2006) · Elsevier eBooks · doi:10.1016/b978-0-323-02598-0.50023-9 · Cited by 30
Molecular Diagnostic Testing by eyeGENE: Analysis of Patients With Hereditary Retinal Dystrophy Phenotypes Involving Central Vision Loss
Alapati, A. N., Goetz, K., Suk, J. J., Navani, M., Al-Tarouti, A., Jayasundera, T., Tumminia, S. J., Lee, P. L., & Ayyagari, R. (2014) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.14-14359 · Cited by 27
Distinct Genetic Risk Profile of the Rapidly Progressing Diffuse-Trickling Subtype of Geographic Atrophy in Age-Related Macular Degeneration (AMD)
Fleckenstein, M., Graßmann, F., Lindner, M., Pfau, M., Czauderna, J., Strunz, T., von Strachwitz, C. N., Schmitz-Valckenberg, S., Holz, F. G., & Weber, B. H. F. (2016) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.15-18593 · Cited by 27
Gene Profiling of Postnatal Mfrprd6 Mutant Eyes Reveals Differential Accumulation of Prss56, Visual Cycle and Phototransduction mRNAs
Soundararajan, R., Won, J., Stearns, T. M., Charette, J. R., Hicks, W. L., Collin, G. B., Naggert, J. Κ., Krebs, M. P., & Nishina, P. M. (2014) · PLoS ONE · doi:10.1371/journal.pone.0110299 · Cited by 25
“Complement C1q tumor necrosis factor–related protein 5 (C1QTNF5, also known as CTRP5) is expressed from the same dicistronic transcript as Mfrp [8,11,15].”
Background
Late-Onset Retinal Degeneration Caused byC1QTNF5Mutation
Jacobson, S. G., Cideciyan, A. V., Sumaroka, A., Román, A. J., & Wright, A. F. (2014) · JAMA Ophthalmology · doi:10.1001/jamaophthalmol.2014.2059 · Cited by 24
Self-citation
Extensive macular atrophy with pseudodrusen-like appearance (EMAP) clinical characteristics, diagnostic criteria, and insights from allied inherited retinal diseases and age-related macular degeneration
Antropoli, A., Bianco, L., Romano, F., Trinco, A., Arrigo, A., Benadji, A., Atia, R., Palacci, O., Dagostinoz, D., Devisme, C., et al. (2024) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2024.101320 · Cited by 23
“The first causative variant identified for L-ORD was the founder mutation p.Ser163Arg (Hayward et al., 2003), which remains the most prevalent and extensively studied mutation.”
CTRP5 ameliorates palmitate-induced apoptosis and insulin resistance through activation of AMPK and fatty acid oxidation
Yang, W., & Lee, W. (2014) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2014.08.145 · Cited by 22
iPS Cells for Modelling and Treatment of Retinal Diseases
Chen, F. K., McLenachan, S., Edel, M. J., da Cruz, L., Coffey, P. J., & Mackey, D. A. (2014) · Journal of Clinical Medicine · doi:10.3390/jcm3041511 · Cited by 27
“For example: Sorsby fundus dystrophy may be caused by deposition of abnormal extracellular protein (TIMP-3); Doyne honeycomb retinal dystrophy may be related to activation of unfolded protein response due to misfolded fibulin-3 (EFEMP-1); and late-onset retina degeneration may be associated with abnormal intracellular…”
Background
Histopathologic-Genotypic Correlations in Retinitis Pigmentosa and Allied Diseases
Ben‐Arie‐Weintrob, Y., Berson, E. L., & Dryja, T. P. (2005) · Ophthalmic Genetics · doi:10.1080/13816810590968032 · Cited by 23
Quantifying the Separation Between the Retinal Pigment Epithelium and Bruch's Membrane using Optical Coherence Tomography in Patients with Inherited Macular Degeneration
Khan, K. N., Borooah, S., Landó, L., Dans, K., Mahroo, O. A., Meshi, A., Kalitzeos, A. A., Agorogiannis, G., Moghimi, S., Freeman, W. R., et al. (2020) · Translational Vision Science & Technology · doi:10.1167/tvst.9.6.26 · Cited by 23
Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned
Almoguera, B., Li, J., Jose, P. F.-S., Liu, Y., March, M., Pellegrino, R., Golhar, R., Cortón, M., Blanco‐Kelly, F., López-Molina, M. I., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0133624 · Cited by 21
“Ser163Arg previously associated with Late-Onset Retinal Degeneration (LORD, #605670) [32] was identified in the index case.”
Background
Pluripotent Stem Cells to Model Degenerative Retinal Diseases: The RPE Perspective
Dalvi, S., Galloway, C. A., & Singh, R. (2019) · Advances in experimental medicine and biology · doi:10.1007/978-3-030-28471-8_1 · Cited by 20

Authors: Hayward, C., Shu, X., Cideciyan, A. V., Lennon, A., Barran, P., Zareparsi, S., Sawyer, L., Hendry, G., Dhillon, B., Milam, A. H., Luthert, P. J., Swaroop, A., Hastie, N. D., Jacobson, S. G., & Wright, A. F.
Affiliations: Western General Hospital (GB)
University of Pennsylvania (US)
University of Michigan (US)
University College London (GB)
ORCID: Hayward, Caroline
Shu, Xinhua
Cideciyan, Artur V.
Barran, Perdita
Sawyer, Lindsay
Dhillon, Baljean
Luthert, Philip J.
Swaroop, Anand
Hastie, Nicholas D.
Jacobson, Samuel G.
Venue: Human Molecular Genetics
Publisher: Oxford University Press (OUP)
Published: 2003-10-15
Volume: 12
Issue: 20
Pages: 2657-2667
ISSN: 0964-6906 (ISSN-L)
1460-2083
DOI: 10.1093/hmg/ddg289
OpenAlex: W2101414552
Cited by: 191
References: 30
Citations by year: 2026: 4 · 2025: 9 · 2024: 5 · 2023: 11 · 2022: 6 · 2021: 11 · 2020: 9 · 2019: 8 · 2018: 10 · 2017: 6 · 2016: 10 · 2015: 7 · 2014: 13 · 2013: 5 · 2012: 14
FWCI: 8.20
Type: journal article
Language: en
Open access: closed
Locations: Human Molecular Genetics (publishedVersion)
PubMed (publishedVersion)
ResearchOnline (Glasgow Caledonian University) (acceptedVersion)
UCL Discovery (University College London) (submittedVersion)
Funders: National Eye Institute (EY-13203, EY 13729, U10EY013729, EY13385, R01EY013203, R01EY013385)
Topics: Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
Health Sciences › Medicine › Ophthalmology › Retinal Development and Disorders
Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Retinal Imaging and Analysis
Keywords: CTRP5, late-onset retinal degeneration, age-related macular degeneration, retinal pigment epithelium, Bruch's membrane, founder mutation, genetic heterogeneity, protein aggregation, autosomal dominant inheritance
MeSH terms: Aged, Aged, 80 and over, Aging, Amino Acid Sequence, Chromosome Mapping, Collagen, Female, Genetic Markers, Haplotypes, Humans, Immunohistochemistry, Macular Degeneration, Male, Middle Aged, Models, Genetic, Models, Molecular, Molecular Sequence Data, Mutation, Pedigree, Phenotype, Retina, Retinal Degeneration, Time Factors, Blotting, Western, Sequence Homology, Amino Acid, Protein Structure, Tertiary, Age of Onset

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

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

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks