Cited by 656Retinal Development and DisordersRetinal Diseases and TreatmentsProtease and Inhibitor Mechanisms

The DOI matches its Crossref record; 33 of the 33 references it cites were found in a registry or an index.

Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy

Weber, Bernhard H. F., Vogt, Gudrun, Pruett, Ronald C., Stöhr, Heidi, Felbor, Ute·1994·Nature Genetics

Open this paper in CoChat — free account

Abstract

The hereditary macular dystrophies are progressive degenerations of the central retina and contribute significantly to irreversible visual loss in developed countries. Among these disorders, Sorsby's fundus dystrophy (SFD), an autosomal dominant condition, provides an excellent mendelian model for the study of the genetically complex age-related macular degeneration (AMD), the most common maculopathy in the elderly. Recently, we mapped the SFD locus to 22q13-qter. This same region contains the gene for tissue inhibitor of metalloproteinases-3 (TIMP3), which is known to play a pivotal role in extracellular matrix remodeling. We have now identified point mutations in the TIMP3 gene in affected members of two SFD pedigrees. These mutations are predicted to disrupt the tertiary structure and thus the functional properties of the mature protein.

Integrity signals

Registry

Crossref · 10.1038/ng1294-352

Cites

33 of 33 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?

DNA sequencing with chain-terminating inhibitors
Sanger, F., Nicklen, S., & Coulson, A. R. (1977) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.74.12.5463 · Cited by 68,572
Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
Orita, M., Suzuki, Y., Sekiya, T., & Hayashi, K. (1989) · Genomics · doi:10.1016/0888-7543(89)90129-8 · Cited by 3,433
Prevalence of age-related maculopathy
Klein, R., Klein, B. E. K., & Linton, K. L. P. (1992) · Ophthalmology · doi:10.1016/s0161-6420(92)31871-8 · Cited by 1,845
Metalloproteinases and their inhibitors in matrix remodeling
Matrisian, L. M. (1990) · Trends in Genetics · doi:10.1016/0168-9525(90)90126-q · Cited by 1,626
Age-related macular degeneration
Bressler, N. M., Bressler, S. B., & Fine, S. L. (1988) · Survey of Ophthalmology · doi:10.1016/0039-6257(88)90052-5 · Cited by 710
Localization of stromelysin gene expression in atherosclerotic plaques by in situ hybridization.
HENNEY, A. M., Wakeley, P. R., Davies, M. J., Foster, K., Hembry, R. M., Murphy, G., & Humphries, S. E. (1991) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.88.18.8154 · Cited by 587
Tissue inhibitor of metalloproteinases-3 (TIMP-3) is an extracellular matrix-associated protein with a distinctive pattern of expression in mouse cells and tissues.
Leco, K. J., Khokha, R., Pavloff, N., Hawkes, S. P., & Edwards, D. R. (1994) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)37115-6 · Cited by 480
Identification of an Inhibitor of Neovascularization from Cartilage
Moses, M. A., Sudhalter, J., & Langer, R. (1990) · Science · doi:10.1126/science.1694043 · Cited by 478
Collagenase expression in the lungs of transgenic mice causes pulmonary emphysema
D'Armiento, J. M., Dalal, S. S., Okada, Y., Berg, R. A., & Chada, K. K. (1992) · Cell · doi:10.1016/0092-8674(92)90391-o · Cited by 376
Molecular characterization and expression of the gene encoding human erythroid-potentiating activity
Gasson, J. C., Golde, D. W., Kaufman, S., Westbrook, C. A., Hewick, R. M., Kaufman, R. J., Wong, G. G., Temple, P. A., Leary, A. C., Brown, E. L., et al. (1985) · Nature · doi:10.1038/315768a0 · Cited by 273

Show all 33 references

Sorted by citations

Items 301–400 of 654

Hypertension, matrix metalloproteinases and target organ damage
Donnelly, R., Collinson, D. J., & Manning, G. (2003) · Journal of Hypertension · doi:10.1097/00004872-200309000-00009 · Cited by 32
Identification of novel retinal target genes of thyroid hormone in the human WERI cells by expression microarray analysis
Liu, Y., Fu, L., Chen, D., & Deeb, S. S. (2007) · Vision Research · doi:10.1016/j.visres.2007.04.023 · Cited by 30
Analysis of the Collagen VI Assemblies Associated with Sorsby's Fundus Dystrophy
Knupp, C., Chong, V. N., Munro, P., Luthert, P. J., & Squire, J. M. (2002) · Journal of Structural Biology · doi:10.1006/jsbi.2002.4449 · Cited by 30
Sorsby fundus dystrophy mutation Timp3S156C affects the morphological and biochemical phenotype but not metalloproteinase homeostasis
Soboleva, G. M., Geis, B., Schrewe, H., & Weber, B. H. F. (2003) · Journal of Cellular Physiology · doi:10.1002/jcp.10361 · Cited by 30
Self-citation
Sorsby Fundus Dystrophy
Carrero-Valenzuela, R. D. (1996) · Archives of Ophthalmology · doi:10.1001/archopht.1996.01100130729016 · Cited by 30
Analysis of the Arg345Trp disease‐associated allele of the EFEMP1 gene in individuals with early onset drusen or familial age‐related macular degeneration
Guymer, R. H., McNeil, R., Cain, M. S., Tomlin, B., Allen, P. J., Luu, C. D., & Baird, P. N. (2002) · Clinical and Experimental Ophthalmology · doi:10.1046/j.1442-9071.2002.00572.x · Cited by 30
Molecular Genetics of Age-Related Macular Degeneration: Current Status
Allikmets, R. (1999) · European Journal of Ophthalmology · doi:10.1177/112067219900900401 · Cited by 29
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
A Gene Map of the Best’s Vitelliform Macular Dystrophy Region in Chromosome 11q12–q13.1Preprint
Stöhr, H., Marquardt, A., Rivera, A., Cooper, P. R., Nowak, N. J., Shows, T. B., Gerhard, D. S., & Weber, B. H. F. (1998) · Genome Research · doi:10.1101/gr.8.1.48 · Cited by 29
Self-citation
Common Polymorphisms in AngiogenesisPreprint
Rogers, M. S., & D’Amato, R. J. (2011) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a006510 · Cited by 28
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
Regional expression of disease-related genes in human and monkey retina
Bernstein, S. L., & WONG, P. W. K. (1998) · PubMed · doi:10.7939/r3n29p68p · Cited by 28
Rheopheresis for age-related macular degeneration: clinical results and putative mechanism of action
Pulido, J. S., Sanders, D. R., & Klingel, R. (2005) · Canadian Journal of Ophthalmology · doi:10.1016/s0008-4182(05)80076-6 · Cited by 28
Peripherin/RDS and VMD2 mutations in macular dystrophies with adult-onset vitelliform lesion.
Zhuk, S. A., & Edwards, A. O. (2006) · PubMed · Cited by 28
Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping.Preprint
Thiselton, D. L., Hampson, R. M., Nayudu, M., Maldergem, L. V., Wolf, M. L., Saha, B. K., Bhattacharya, S. S., & Hardcastle, A. J. (1996) · Genome Research · doi:10.1101/gr.6.11.1093 · Cited by 28
Photoreceptor rescue after low-dose intravitreal IL-1β Injection in the RCS Rat
Whiteley, S. J. O., Klassen, H. J., Coffey, P. J., & Young, M. J. (2001) · Experimental Eye Research · doi:10.1006/exer.2001.1066 · Cited by 27
Genetics of age-related macular degeneration
KLEIN, M., & Francis, P. J. (2003) · Ophthalmology Clinics of North America · doi:10.1016/s0896-1549(03)00063-4 · Cited by 26
Age-Related Increase in Activity of Specific Lysosomal Enzymes in the Human Retinal Pigment Epithelium
Verdugo, M. E., & Ray, J. (1997) · Experimental Eye Research · doi:10.1006/exer.1997.0325 · Cited by 27
Sorsby's fundus dystrophy mutant tissue inhibitors of metalloproteinase‐3 induce apoptosis of retinal pigment epithelial and MCF‐7 cells
Majid, M. A., Smith, V. A., EASTY, D. L., Baker, A. H., & Newby, A. C. (2002) · FEBS Letters · doi:10.1016/s0014-5793(02)03359-8 · Cited by 25
PRPH2 (Peripherin/RDS) Mutations Associated with Different Macular Dystrophies in a Spanish Population: A New Mutation
Coco, R. M., Tellena, J. J., Sanabria, M. R., Rodríguez-de-la-Rúa-Franch, E., & García, M. T. (2010) · European Journal of Ophthalmology · doi:10.1177/112067211002000413 · Cited by 26
Epidemiology of Age-Related Macular Degeneration
Seddon, J. M., & Chen, C. A. (2006) · Elsevier eBooks · doi:10.1016/b978-0-323-02598-0.50064-1 · Cited by 26
EST mining of the UniGene dataset to identify retina-specific genes
Stöhr, H., Mah, N., Schulz, H. L., Gehrig, A., Fröhlich, S., & Weber, B. H. F. (2000) · Cytogenetic and Genome Research · doi:10.1159/000056856 · Cited by 26
Self-citation
High Molecular-Weight Gelatinase Species of Human Bruch's Membrane: Compositional Analyses and Age-Related Changes
Hussain, A. A., Lee, Y., & Marshall, J. (2010) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.09-4259 · Cited by 25
Selective Impairment of a Subset of Ran-GTP-binding Domains of Ran-binding Protein 2 (Ranbp2) Suffices to Recapitulate the Degeneration of the Retinal Pigment Epithelium (RPE) Triggered by Ranbp2 Ablation
Patil, H., Saha, A., Senda, E., Cho, K.-I., Haque, M., Yu, M., Qiu, S., Yoon, D., Hao, Y., Peachey, N. S., et al. (2014) · Journal of Biological Chemistry · doi:10.1074/jbc.m114.586834 · Cited by 25
Molecular dissection of TIMP3 mutation S156C associated with Sorsby fundus dystrophy
Fogarasi, M., Janßen, A., Weber, B. H. F., & Stöhr, H. (2008) · Matrix Biology · doi:10.1016/j.matbio.2008.01.008 · Cited by 25
Self-citation
The 2014 Bowman Lecture—Bowman’s and Bruch’s: a tale of two membranes during the laser revolution
Marshall, J. (2015) · Eye · doi:10.1038/eye.2014.240 · Cited by 25
Modulation of Sub-RPE Deposits In Vitro: A Potential Model for Age-Related Macular Degeneration
Amin, S. (2004) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.03-0671 · Cited by 25
Radiation therapy for age-related macular degeneration
Berson, A. M., Finger, P. T., & Chakravarthy, U. (1999) · Seminars in Radiation Oncology · doi:10.1016/s1053-4296(99)80005-8 · Cited by 25
Bone morphogenetic protein-2 and transforming growth factor-β2 interact to modulate human bone marrow stromal cell proliferation and differentiation
Fromigué, O., Marie, P. J., & Lomri, A. (1998) · Journal of Cellular Biochemistry · doi:10.1002/(sici)1097-4644(19980315)68:4 · Cited by 155
Expression of 72-kDa gelatinase (matrix metailloproteinase-2) in the developing mouse craniofacial complex
Iamaroon, A., Wallon, U. M., Overall, C. M., & Diewert, V. M. (1996) · Archives of Oral Biology · doi:10.1016/s0003-9969(96)00097-0 · Cited by 25
Malattia leventinese presenting with subretinal neovascular membrane and hemorrhage
Pager, C. K., Sarin, L. K., Federman, J. L., Eagle, R. C., Hageman, G. S., Rosenow, J., & Donoso, L. A. (2001) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(00)00821-7 · Cited by 25
Influence of TIMP3/SYN3 polymorphisms on the phenotypic presentation of age-related macular degeneration
Ardeljan, D., MEYERLE, C. B., Agrón, E., Wang, J. J., Mitchell, P., Chew, E. Y., Zhao, J., Maminishkis, A., Chan, C. C., & Tuo, J. (2013) · European Journal of Human Genetics · doi:10.1038/ejhg.2013.14 · Cited by 25
Understanding the complexity of the matrix metalloproteinase system and its relevance to age-related diseases: Age-related macular degeneration and Alzheimer's disease
Hussain, A. A., Lee, Y., & Marshall, J. (2019) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2019.100775 · Cited by 26
Oxidative stress differentially impacts apical and basolateral secretion of angiogenic factors from human iPSC-derived retinal pigment epithelium cells
Chen, L., Perera, N. D., Karoukis, A. J., Feathers, K. L., Ali, R. R., Thompson, D. A., & Fahim, A. T. (2022) · Scientific Reports · doi:10.1038/s41598-022-16701-6 · Cited by 24
The extracellular microenvironment in immune dysregulation and inflammation in retinal disorders
Biasella, F., Plößl, K., Baird, P. N., & Weber, B. H. F. (2023) · Frontiers in Immunology · doi:10.3389/fimmu.2023.1147037 · Cited by 28
Self-citation
Macular Degeneration
Stone, E. M. (2006) · Annual Review of Medicine · doi:10.1146/annurev.med.58.111405.133335 · Cited by 24
Expression of mutant and wild-type TIMP3 in primary gingival fibroblasts from Sorsby's fundus dystrophy patients
Arris, C. E., Bevitt, D. J., Mohamed, J., Li, Z., Langton, K. P., Barker, M. D., Clarke, M. W., & McKie, N. (2003) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/s0925-4439(03)00036-x · Cited by 24
Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1).
Gehrig, A., Felbor, U., Kelsell, R. E., Hunt, D. M., Maumenee, I. H., & Weber, B. H. F. (1998) · Journal of Medical Genetics · doi:10.1136/jmg.35.8.641 · Cited by 24
Self-citation
Evaluation of the Peripherin/RDS Gene as a Candidate Gene in Families with Age-Related Macular Degeneration
Shastry, B. S., & Trese, M. T. (1999) · Ophthalmologica · doi:10.1159/000027413 · Cited by 24
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
A Review and Update on the Molecular Basis of Pathogenesis of Sorsby Fundus Dystrophy
Stöhr, H., & Anand‐Apte, B. (2011) · Advances in experimental medicine and biology · doi:10.1007/978-1-4614-0631-0_34 · Cited by 23
Self-citation
Tissue Inhibitor of Metalloproteinase-3 Plays Important Roles in the Kidney Following Unilateral Ureteral Obstruction
Kawamoto, H., Yasuda, O., Suzuki, T., OZAKI, T., Yotsui, T., Higuchi, M., Rakugi, H., Fukuo, K., Ogihara, T., & Maeda, N. (2006) · Hypertension Research · doi:10.1291/hypres.29.285 · Cited by 22
Changing therapeutic paradigms for exudative age-related macular degeneration: antiangiogenic agents and photodynamic therapy
Ciulla, T. A., Danis, R. P., Criswell, M. H., & Pratt, L. M. (1999) · Expert Opinion on Investigational Drugs · doi:10.1517/13543784.8.12.2173 · Cited by 23
Metalloproteinase axes increase β-catenin signaling in primary mouse mammary epithelial cells lacking TIMP3
Hojilla, C. V., Kim, I., Kassiri, Z., Fata, J. E., Fang, H., & Khokha, R. (2007) · Journal of Cell Science · doi:10.1242/jcs.003335 · Cited by 22
Inherited Diseases of the Vasculature
Shovlin, C. L., & Scott, J. (1996) · Annual Review of Physiology · doi:10.1146/annurev.ph.58.030196.002411 · Cited by 23
Polymorphisms of the Tissue Inhibitor of Metalloproteinase 3 Gene Are Associated with Resistance to High-Altitude Pulmonary Edema (HAPE) in a Japanese Population: A Case Control Study Using Polymorphic Microsatellite Markers
Kobayashi, N., Hanaoka, M., Droma, Y., Ito, M., Katsuyama, Y., Kubo, K., & Ôta, M. (2013) · PLoS ONE · doi:10.1371/journal.pone.0071993 · Cited by 22
Mutant Fibulin-3 Causes Proteoglycan Accumulation and Impaired Diffusion Across Bruch's Membrane
Zayas‐Santiago, A., Cross, S. D., Stanton, J. B., Marmorstein, A. D., & Marmorstein, L. Y. (2017) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.17-21720 · Cited by 22
Visual Dysfunction and Structural Correlates in Sorsby Fundus Dystrophy
Raming, K., Gliem, M., Issa, P. C., Birtel, J., Herrmann, P., Holz, F. G., Pfau, M., & Pfau, K. (2021) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2021.07.032 · Cited by 22
Extracellular matrix dysfunction in Sorsby patient-derived retinal pigment epithelium
Engel, A. L., Wang, Y., Khuu, T. H., Worrall, E., Manson, M. A., Lim, R. R., Knight, K., Yanagida, A., Qi, J. H., Ramakrishnan, A., et al. (2021) · Experimental Eye Research · doi:10.1016/j.exer.2021.108899 · Cited by 22
A NOVEL MUTATION AT THE N-TERMINAL DOMAIN OF THE TIMP3 GENE IN SORSBY FUNDUS DYSTROPHY
Schoenberger, S. D., & Agarwal, A. (2012) · Retina · doi:10.1097/iae.0b013e318263d3b4 · Cited by 22
The genetic and molecular bases of monogenic disorders affecting proteolytic systems
Richard, I. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.028118 · Cited by 22
A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene
Meunier, I., Bocquet, B., Labesse, G., Zeitz, C., Defoort‐Dhellemmes, S., Lacroux, A., Mauget‐Faÿsse, M., Drumare, I., Gamez, A. S., Mathieu, C., et al. (2016) · Scientific Reports · doi:10.1038/srep32544 · Cited by 24
In Vitro Maturation of Retinal Pigment Epithelium Is Essential for Maintaining High Expression of Key Functional Genes
Al-Ani, A., Sunba, S., Hafeez, B. B., Toms, D., & Ungrin, M. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21176066 · Cited by 22
Clinical spectrum of chromosome 6–linked autosomal dominant drusen and macular degeneration
Stefko, S. T., Zhang, K., Gorin, M. B., & Traboulsi, E. I. (2000) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(00)00562-6 · Cited by 22
Angioid streaks associated with abetalipoproteinemia.
Gorin, M. B., Paul, T., & Rader, D. (1994) · Ophthalmic Genetics · doi:10.3109/13816819409057843 · Cited by 21
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
Sorsby Fundus Dystrophy Mutation in Tissue Inhibitor of Metalloproteinase 3 (TIMP3) promotes Choroidal Neovascularization via a Fibroblast Growth Factor-dependent Mechanism
Qi, J. H., Bell, B. A., Singh, R., Batoki, J. C., Wolk, A., Cutler, A., Prayson, N. F., Ali, M., Stöhr, H., & Anand‐Apte, B. (2019) · Scientific Reports · doi:10.1038/s41598-019-53433-6 · Cited by 20
Self-citation
Mutation in collagen gene induces cardiomyopathy in transgenic mice*
Miller, A. D., & Tyagi, S. C. (2002) · Journal of Cellular Biochemistry · doi:10.1002/jcb.10130 · Cited by 21
SUCCESSFUL TREATMENT OF CHOROIDAL NEOVASCULARIZATION SECONDARY TO SORSBY FUNDUS DYSTROPHY WITH INTRAVITREAL BEVACIZUMAB
Gemenetzi, M. K., Luff, A. J., & Lotery, A. J. (2010) · Retinal Cases & Brief Reports · doi:10.1097/icb.0b013e3181cc216b · Cited by 21
Retinal Function Abnormalities in Membranoproliferative Glomerulonephritis Type II
Kim, R. Y., Faktorovich, E. G., Kuo, C. Y., & Olson, J. L. (1997) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(14)71074-8 · Cited by 21
The genetics of complex ophthalmic disorders.
Gregory-Evans, K., & Bird, A. C. (1996) · British Journal of Ophthalmology · doi:10.1136/bjo.80.8.763 · Cited by 21
Dynamic Role of Extracellular Matrix Metalloproteinases in Heart Failure
Tyagi, S. C. (1998) · Cardiovascular Pathology · doi:10.1016/s1054-8807(97)00121-x · Cited by 21
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
Tissue Inhibitor of Metalloproteinase-3 Deficiency Inhibits Blood Pressure Elevation and Myocardial Microvascular Remodeling Induced by Chronic Administration of N.OMEGA.-Nitro-L-Arginine Methyl Ester in Mice
Higuchi, M., Yasuda, O., Kawamoto, H., Yotsui, T., Yoshichika, B. A. B. A., OZAKI, T., Maeda, N., Fukuo, K., Rakugi, H., & Ogihara, T. (2007) · Hypertension Research · doi:10.1291/hypres.30.563 · Cited by 20
Ranibizumab for the management of Sorsby fundus dystrophy
Balaskas, K., Hovan, M., Mahmood, S., & Bishop, P. (2012) · Eye · doi:10.1038/eye.2012.221 · Cited by 20
Diagnosis and classification of macular degenerations: an approach based on retinal function testing
Scullica, L., & Falsini, B. (2001) · Documenta Ophthalmologica · doi:10.1023/a:1017562532731 · Cited by 20
Measurement of TIMP-3 Expression and Bruch's Membrane Thickness in Human Macula
Bailey, T. A., Alexander, R., Dubovy, S. R., Luthert, P. J., & Chong, V. N. (2001) · Experimental Eye Research · doi:10.1006/exer.2001.1089 · Cited by 19
Expression of the ETS transcription factor ELF3 in the retinal pigment epithelium.
Jobling, A. I., Fang, Z., Koleski, D., & Tymms, M. J. (2002) · PubMed · Cited by 20
Reflections on the evolution of the vertebrate tissue inhibitors of metalloproteinases
Brew, K. (2018) · The FASEB Journal · doi:10.1096/fj.201801262r · Cited by 20
Genetic Insights Into the Pathobiology of Age-related Macular Degeneration
Mullins, R. F. (2006) · International Ophthalmology Clinics · doi:10.1097/iio.0b013e31802bd3e6 · Cited by 19
Clinical features of a novel TIMP-3 mutation causing Sorsby's fundus dystrophy: implications for disease mechanism
Clarke, M. W. (2001) · British Journal of Ophthalmology · doi:10.1136/bjo.85.12.1429 · Cited by 19
Macular neovascularization in inherited retinal diseases: A review
Jeffery, R. C. H., & Chen, F. K. (2023) · Survey of Ophthalmology · doi:10.1016/j.survophthal.2023.07.007 · Cited by 20
Ultrastructural Findings in Autosomal Dominant Drusen
Holz, F. G. (1997) · Archives of Ophthalmology · doi:10.1001/archopht.1997.01100150790017 · Cited by 18
TIMP-3 mRNA is not overexpressed in sorsby fundus dystrophy
Chong, V. N., Kvanta, A., Seregard, S., Bird, A. C., Luthert, P. J., & Steén, B. (2003) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(03)00482-3 · Cited by 18
Genetics of Macular Dystrophies and Implications for Age-Related Macular Degeneration
Klaver, C. C. W., & Allikmets, R. L. (2003) · KARGER eBooks · doi:10.1159/000072045 · Cited by 17
Refined genetic localization of the Best disease gene in 11q13 and physical mapping of linked markers on radiation hybrids
Graff, C., Eriksson, A., Forsman, K., Sandgren, O., Holmgren, G., & Wadelius, C. (1997) · Human Genetics · doi:10.1007/s004390050627 · Cited by 17
Seeing the light: New insights into the molecular pathogenesis of retinal diseases
Campochiaro, P. A. (2007) · Journal of Cellular Physiology · doi:10.1002/jcp.21213 · Cited by 19
Molecular genetics of macular degeneration
Musarella, M. A. (2001) · Documenta Ophthalmologica · doi:10.1023/a:1017510515893 · Cited by 17
What Is the Future of Research in Age-Related Macular Disease?
Bird, A. C. (1997) · Archives of Ophthalmology · doi:10.1001/archopht.1997.01100160481017 · Cited by 16
Genomic organization of the human tissue inhibitor of metalloproteinases-3 (TIMP3)Preprint
Stöhr, H., Roomp, K., Felbor, U., & Weber, B. H. F. (1995) · Genome Research · doi:10.1101/gr.5.5.483 · Cited by 17
Self-citation
Autosomal recessive Oliver–McFarlane syndrome: Retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy‐pituitary dysfunction)
Haimi, M., & Gershoni‐Baruch, R. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30953 · Cited by 16
Transcriptional repression of tissue inhibitor of metalloproteinase-3 by Epstein-Barr virus latent membrane protein 1 enhances invasiveness of nasopharyngeal carcinoma cells
Chang, S.-H., Chang, H., & Hung, W. (2008) · Oral Oncology · doi:10.1016/j.oraloncology.2007.11.005 · Cited by 16
Transcript Mapping of the Human Chromosome 11q12–q13.1 Gene-Rich Region Identifies Several Newly Described Conserved Genes
Cooper, P. R., Nowak, N. J., Higgins, M. J., Church, D. M., & Shows, T. B. (1998) · Genomics · doi:10.1006/geno.1998.5291 · Cited by 16
The Role ofMMP2(-1306C>T) andTIMP2(-418 G>C) Promoter Variants in Age-related Macular Degeneration
Ortak, H., Demir, S., Ateş, Ö., Benli, İ., Söğüt, E., & Sahin, M. (2013) · Ophthalmic Genetics · doi:10.3109/13816810.2013.781192 · Cited by 15
Long non‑coding RNA RPSAP52 upregulates Timp3 by serving as the endogenous sponge of microRNA‑365 in diabetic retinopathy
Niu, T., An, Y., Lv, T., & Liu, D. (2020) · Experimental and Therapeutic Medicine · doi:10.3892/etm.2020.9376 · Cited by 15
Identification of a Promoter for the Human C1q-Tumor Necrosis Factor–Related Protein-5 Gene Associated with Late-Onset Retinal Degeneration
Chavali, V. R. M., Sommer, J. R., Petters, R. M., & Ayyagari, R. (2010) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.10-5543 · Cited by 16
Identification of novel common polymorphisms in the promoter region of the TIMP-3 gene in Czech population
Beránek, M., Kaňková, K., & Mužı́k, J. (2000) · Molecular and Cellular Probes · doi:10.1006/mcpr.2000.0315 · Cited by 15
Biology and Regulation of the Matrix Metalloproteinases
Sternlicht, M. D., Coussens, L. M., Vu, T. H., & Werb, Z. (2001) · doi:10.1007/978-1-59259-011-7_1 · Cited by 15
Sorsby fundus dystrophy presenting with choroidal neovascularisation showing good response to steroid treatment
Atan, D. (2004) · British Journal of Ophthalmology · doi:10.1136/bjo.2003.020438 · Cited by 15
Gene therapy for ocular neovascularization: a cure in sight
Reich, S. J., & Bennett, J. (2003) · Current Opinion in Genetics & Development · doi:10.1016/s0959-437x(03)00043-1 · Cited by 15
The retinal pigment epithelium in Sorsby Fundus Dystrophy shows increased sensitivity to oxidative stress-induced degeneration
Wolk, A., Upadhyay, M., Ali, M., Suh, J., Stöhr, H., Bonilha, V. L., & Anand‐Apte, B. (2020) · Redox Biology · doi:10.1016/j.redox.2020.101681 · Cited by 14
Self-citation
Genetic Association between MMP9 and Choroidal Neovascularization in Age-Related Macular Degeneration
Sohn, E. H., Han, I. C., Roos, B. R., Faga, B., Luse, M. A., Binkley, E. M., Boldt, H. C., Folk, J. C., Russell, S. R., Mullins, R. F., et al. (2021) · Ophthalmology Science · doi:10.1016/j.xops.2020.100002 · Cited by 13
Clinically-identified C-terminal mutations in fibulin-3 are prone to misfolding and destabilization
Woodard, D. R., Nakahara, E., & Hulleman, J. D. (2021) · Scientific Reports · doi:10.1038/s41598-020-79570-x · Cited by 12
Can Novel Treatment of Age-Related Macular Degeneration Be Developed by Better Understanding of Sorsby’s Fundus Dystrophy
Gourier, H., & Chong, V. N. (2015) · Journal of Clinical Medicine · doi:10.3390/jcm4050874 · Cited by 13
Altered Bone Mechanics, Architecture and Composition in the Skeleton of TIMP-3-Deficient Mice
Miller, B., Spevak, L., Lukashova, L., Javaheri, B., Pitsillides, A. A., Boskey, A. L., Bou–Gharios, G., & Carriero, A. (2017) · Calcified Tissue International · doi:10.1007/s00223-017-0248-5 · Cited by 14
Retinal Pigment Epithelium Sequelae Caused by Blunt Ocular Trauma: Incidence, Visual Outcome, and Associated Factors
Ahn, S. J., Woo, S. J., Park, K. H., & Lee, B. R. (2017) · Scientific Reports · doi:10.1038/s41598-017-14659-4 · Cited by 14
TIMP-1 expression is increased in X-linked progressive retinal atrophy despite its exclusion as a candidate gene
Zeiss, C. J., Acland, G. M., Aguirre, G. D., & Ray, K. (1998) · Gene · doi:10.1016/s0378-1119(98)00521-6 · Cited by 14
The Tissue Inhibitors of Metalloproteinases (TIMPs)
Edwards, D. R. (2001) · doi:10.1007/978-1-59259-011-7_3 · Cited by 15
Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy (DHRD)
Kermani, S., Gregory-Evans, K., Tarttelin, E. E., Bellingham, J., Plant, C., Bird, A. C., Fox, M., Bhattacharya, S. S., & Gregory, C. Y. (1999) · Human Genetics · doi:10.1007/s004390050913 · Cited by 14
OCT angiography in the management of choroidal neovascular membrane secondary to Sorsby fundus dystrophy
Mohla, A., Khan, K. N., Kasilian, M. L., & Michaelides, M. (2016) · BMJ Case Reports · doi:10.1136/bcr-2016-216453 · Cited by 13

Authors: Weber, B. H. F., Vogt, G., Pruett, R. C., Stöhr, H., & Felbor, U.
Affiliations: University of Würzburg (DE)
ORCID: Weber, Bernhard H. F.
Stöhr, Heidi
Felbor, Ute
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 1994-12
Volume: 8
Issue: 4
Pages: 352-356
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng1294-352
OpenAlex: W1990509128
Cited by: 656
References: 33
Citations by year: 2026: 3 · 2025: 9 · 2024: 10 · 2023: 11 · 2022: 11 · 2021: 12 · 2020: 11 · 2019: 13 · 2018: 12 · 2017: 20 · 2016: 11 · 2015: 13 · 2014: 14 · 2013: 17 · 2012: 16
FWCI: 15.19
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Genetics (publishedVersion)
PubMed (publishedVersion)
University of Regensburg Publication Server (University of Regensburg) (submittedVersion)
Topics: Health Sciences › Medicine › Ophthalmology › Retinal Development and Disorders
Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Protease and Inhibitor Mechanisms
Keywords: Sorsby's fundus dystrophy, TIMP-3, point mutations, hereditary macular dystrophy, autosomal dominant inheritance, extracellular matrix remodeling, protein tertiary structure, age-related macular degeneration, gene mapping
MeSH terms: Amino Acid Sequence, Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 22, Exons, Female, Humans, Macular Degeneration, Male, Metalloendopeptidases, Molecular Sequence Data, Neoplasm Proteins, Pedigree, Polymorphism, Genetic, Point Mutation, Tissue Inhibitor of Metalloproteinase-3

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

Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy

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