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

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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

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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.

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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

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Wang, C.-Y., Liou, J., Tsai, A.-C., Lai, M.-J., Liu, Y., Lee, H., Wang, J.-C., Pan, S., & Teng, C. (2014) · Oncotarget · doi:10.18632/oncotarget.2451 · Cited by 14
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Lip, P. L., Good, P. A., & Gibson, J. M. (1999) · Eye · doi:10.1038/eye.1999.4 · Cited by 13
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Elner, S. G. (2002) · PubMed Central · Cited by 13
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Joe, M. K., Lieberman, R. L., Nakaya, N., & Tomarev, S. I. (2017) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.16-20336 · Cited by 13
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Naessens, S., Zaeytijd, J. D., Syx, D., Vandenbroucke, R. E., Smeets, F., Cauwenbergh, C. V., Leroy, B. P., Peelman, F., & Coppieters, F. (2019) · Human Mutation · doi:10.1002/humu.23713 · Cited by 12
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Magueresse‐Battistoni, B. L. (2009) · Advances in experimental medicine and biology · doi:10.1007/978-0-387-09597-4_8 · Cited by 12
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Lavorgna, G., Lestingi, M., Ziviello, C., Testa, F., Simonelli, F., Manitto, M. P., Brancato, R., Ferrari, M., Rinaldi, E., Ciccodicola, A., et al. (2003) · Biochemical and Biophysical Research Communications · doi:10.1016/s0006-291x(03)01410-4 · Cited by 12
Relationships between stress, protein damage, nutrition, and age-related eye diseases
Taylor, A., Shang, F., & Obin, M. S. (1997) · Molecular Aspects of Medicine · doi:10.1016/s0098-2997(95)00049-6 · Cited by 12
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Raison‐Peyron, N., Duval, P.-A., Barneon, G., Durand, L., Arnaud, B., Meynadier, J., & Hamel§, C. (2000) · British Journal of Dermatology · doi:10.1046/j.1365-2133.2000.03803.x · Cited by 12
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Spanò, D. P., & Scilabra, S. D. (2022) · Membranes · doi:10.3390/membranes12020211 · Cited by 13
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Mellough, C., STEEL, D. H., & Lako, M. (2009) · Stem Cells · doi:10.1002/stem.159 · Cited by 12
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Roberts, D. K., Yang, Y., Morettin, C. E., Newman, T. L., Roberts, M. F., & Wilensky, J. T. (2017) · The Anatomical Record · doi:10.1002/ar.23570 · Cited by 11
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Chong, V. N., Keonin, J., Luthert, P. J., Frennesson, C. I., Weingeist, D. M., Wolf, R. L., Mullins, R. F., & Hageman, G. S. (2005) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2005.04.005 · Cited by 11
Sorsby fundus dystrophy without a mutation in the TIMP-3 gene
Assink, J. J. M. (2000) · British Journal of Ophthalmology · doi:10.1136/bjo.84.7.682 · Cited by 11
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Keller, J., Giralt, J., Alforja, S., & Casaroli-Marano, R. P. (2014) · Retinal Cases & Brief Reports · doi:10.1097/icb.0000000000000103 · Cited by 11
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Moreno, P., & Fallon, J. T. (1997) · Springer eBooks · doi:10.1007/978-3-642-60463-8_19 · Cited by 11
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Les dystrophies maculaires héréditaires
Rozet, J., Gerber, S., Ducroq, D., Hamel, C., Dufier, J., & Kaplan, J. (2005) · Journal Français d Ophtalmologie · doi:10.1016/s0181-5512(05)81033-2 · Cited by 11
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Clark, S. J., Curcio, C. A., Dick, A. D., Doyle, S., Edwards, M. M., Flores‐Bellver, M., Hass, D. T., Lennon, R., Toomey, C. B., & Rohrer, B. (2025) · Experimental Eye Research · doi:10.1016/j.exer.2025.110343 · Cited by 11
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Ong, J., Selvam, A., Driban, M., Zarnegar, A., Silva, S. I. M. M. A. D., Joy, J. G., Rossi, E. A., Geest, J. P. V., Sahel, J., & Chhablani, J. (2025) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2025.101358 · Cited by 10
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Bierman, R., Dave, J. M., Greif, D. M., & Salzman, J. (2023) · eLife · doi:10.7554/elife.87517.2 · Cited by 12
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Wolk, A., Hatipoğlu, D., Cutler, A., Ali, M., Bell, L., Qi, J. H., Singh, R., Batoki, J. C., Karle, L., Bonilha, V. L., et al. (2020) · Cells · doi:10.3390/cells9030608 · Cited by 8
Self-citation
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Tsokolas, G. (2022) · Medicine · doi:10.1097/md.0000000000030595 · Cited by 9
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Ho, L., van Leeuwen, R., de Jong, P. T. V. M., Vingerling, J. R., & Klaver, C. C. W. (2012) · Springer eBooks · doi:10.1007/978-3-642-22107-1_1 · Cited by 9
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Gray, T. L., Wong, H. C., & Raymond, G. L. (2011) · Retinal Cases & Brief Reports · doi:10.1097/icb.0b013e31822476fd · Cited by 9
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Murata, T., Hangai, M., Ishibashi, T., Spee, C. K., Gordon, E. M., Anderson, W. F., Hinton, D. R., & Ryan, S. J. (1998) · PubMed · Cited by 9
Vitamin A megatherapy for retinal abnormalities
Acott, T. S., & Weleber, R. G. (1995) · Nature Medicine · doi:10.1038/nm0995-884 · Cited by 9
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Hollander, D. (2004) · British Journal of Ophthalmology · doi:10.1136/bjo.2003.027508 · Cited by 9
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Anjum, T., & Iram, W. (2015) · Springer eBooks · doi:10.1007/978-3-319-19456-1_4-1 · Cited by 8
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Spaide, R. F. (2021) · Eye · doi:10.1038/s41433-021-01735-3 · Cited by 8
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Nirmalan, P. K. (2004) · British Journal of Ophthalmology · doi:10.1136/bjo.2003.025437 · Cited by 8
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Tymms, M. J. (1999) · Clinical and Experimental Optometry · doi:10.1111/j.1444-0938.1999.tb06789.x · Cited by 8
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Sohocki, M. M., Sullivan, L. S., Mintz-Hittner, H. A., Small, K. W., Ferrell, R. E., & Daiger, S. P. (1997) · The American Journal of Human Genetics · doi:10.1016/s0002-9297(07)64299-2 · Cited by 8
The genetics of age‐related macular degeneration
Guymer, R. H. (2001) · Clinical and Experimental Optometry · doi:10.1111/j.1444-0938.2001.tb05023.x · Cited by 8
Molecular genetics of macular dystrophies.
Zhang, K., Yeon, H. B., Han, M., & Donoso, L. A. (1996) · British Journal of Ophthalmology · doi:10.1136/bjo.80.11.1018 · Cited by 8
Genetic aspects of age-related macular degeneration
MacDonald, I. M. (2005) · Canadian Journal of Ophthalmology · doi:10.1016/s0008-4182(05)80071-7 · Cited by 8
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Seuánez, H. N., Lima, C. R., Lemos, B., Bonvicino, C. R., Moreira, M. Â. M., & Canavez, F. (2001) · Chromosome Research · doi:10.1023/a:1012900206671 · Cited by 8
Summary of ocular genetic disorders and inherited systemic conditions with eye findings
MacDonald, I. M., Haney, P. M., & Musarella, M. A. (1998) · Ophthalmic Genetics · doi:10.1076/opge.19.1.1.2181 · Cited by 8
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Rizwan, S., Toothman, B., Li, B., Engel, A. L., Lim, R. R., Niernberger, S., Lu, J., Ratliff, C., Xiang, Y., Eminhizer, M., et al. (2024) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.65.11.5 · Cited by 7
Sorsby's Fundus Dystrophy in Two Japanese Families With Unusual Clinical Features
Isashiki, Y. (1999) · Japanese Journal of Ophthalmology · doi:10.1016/s0021-5155(99)00117-3 · Cited by 7
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Thomas, G., Grassi, M. A., Lee, J. R., Edwards, A. O., Gorin, M. B., Klein, R., Casavant, T. L., Scheetz, T. E., Stone, E. M., & Williams, A. B. (2007) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.06-1022 · Cited by 7
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Song, D., Mohammed, I., Bhuyan, R., Miwa, T., Williams, A. L., Gullipalli, D., Sato, S., Song, Y., Dunaief, J. L., & Song, W. (2018) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.18-24133 · Cited by 7
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Sieving, P. A., BOSKOVICH, S. A., Bingham, E. L., & Pawar, H. (1996) · PubMed Central · Cited by 7
Genetics update of macular diseases
CHUNG, M., & Lotery, A. J. (2002) · Ophthalmology Clinics of North America · doi:10.1016/s0896-1549(02)00045-7 · Cited by 7
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Brown, J., Webster, A. R., Sheffield, V. C., & Stone, E. M. (2006) · Elsevier eBooks · doi:10.1016/b978-0-323-02598-0.50022-7 · Cited by 7
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Humphries, P., Kenna, P. F., & Farrar, G. J. (1994) · Nature Genetics · doi:10.1038/ng1294-315 · Cited by 7
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Hargrave, P. A. (1995) · Behavioral and Brain Sciences · doi:10.1017/s0140525x00039169 · Cited by 7
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Lauwen, S., Lefeber, D. J., Fauser, S., Hoyng, C. B., & den Hollander, A. I. (2021) · PubMed Central · Cited by 6
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Schoen, T. J., Chandrasekharappa, S. C., Guru, S. C., Mazuruk, K., Chader, G. J., & Rodríguez, I. R. (1997) · Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression · doi:10.1016/s0167-4781(97)00041-9 · Cited by 6
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Butler, M. G., Moore, J., Morawiecki, A., & Nicolson, M. A. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19980106)75:1 · Cited by 50
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Hammani, K., Henriet, P., Silbiger, S. M., & DeClerck, Y. A. (1996) · Gene · doi:10.1016/0378-1119(95)00864-0 · Cited by 6
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Yang, Z., Kitsos, G., Tong, Z., Payne, M., Gorezis, S., Psilas, K. G., Grigoriadou, M., Zhao, Y., Kamaya, S., Aperis, G., et al. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2005.040188 · Cited by 6
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Li, R. T. H., Román, A. J., Sumaroka, A., Stanton, C. M., Świder, M., Garafalo, A. V., Héon, E., Vincent, A., Wright, A. F., Megaw, R. D., et al. (2023) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.64.15.33 · Cited by 5
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Dadoukis, P., Klagas, I., Komnenou, A. T., Karakiulakis, G., Karoutis, A., Karampatakis, V. E., & Papakonstantinou, E. (2013) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/s00417-013-2349-9 · Cited by 5
Basic Mechanisms of Pathological Retinal and Choroidal Angiogenesis
Vavvas, D. G., & Miller, J. W. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4557-0737-9.00026-6 · Cited by 5
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Cooley, M. A., & Argraves, W. S. (2010) · Springer eBooks · doi:10.1007/978-3-642-16555-9_10 · Cited by 5
Recoverin is the tumor antigen in cancerassociated retinopathy
Polans, A. S., & Adamus, G. (1995) · Behavioral and Brain Sciences · doi:10.1017/s0140525x00039406 · Cited by 5
Molecular Genetics of Selected Ocular Disorders
Wiggs, J. L. (2009) · Elsevier eBooks · doi:10.1016/b978-0-323-04332-8.00002-0 · Cited by 5
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Hardcastle, A. J., Thiselton, D. L., Nayudu, M., Hampson, R. M., & Bhattacharya, S. S. (1997) · PubMed · Cited by 5
Molecular genetics of central retinal dystrophies
Moore, A. T., & Gregory-Evans, K. (1996) · Australian and New Zealand Journal of Ophthalmology · doi:10.1111/j.1442-9071.1996.tb01580.x · Cited by 5
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Wolff, R. K. (1997) · Drug Development Research · doi:10.1002/(sici)1098-2299(199707/08)41:3/4 · Cited by 5
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Kuvaja, P. (2007) · Cited by 5
The Winston Churchill Memorial Trust of Australia Report by
Simpkin, T. (2005) · Cited by 5
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Guymer, R. H. (2017) · Ophthalmology · doi:10.1016/j.ophtha.2017.09.007 · Cited by 5
Sostdc1 is expressed in all major compartments of developing and adult mammalian eyes
Valensi, M., Goldman, G., Marchant, D., Berghe, L. V. D., Jonet, L., Daruich, A., Robert, M. P. A., Krejci, É., Klein, C., Mascarelli, F., et al. (2019) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/s00417-019-04462-4 · Cited by 4
Genetics in Age-Related Macular Degeneration
Broadhead, G., Chang, A., & McCluskey, P. (2012) · Asia-Pacific Journal of Ophthalmology · doi:10.1097/apo.0b013e31826e1d4a · Cited by 4
Hereditary Choroidal Disease
Diana, V., Zhang, K., Garibaldi, D. C., Carr, R. E., & Sunness, J. S. (2006) · Elsevier eBooks · doi:10.1016/b978-0-323-02598-0.50024-0 · Cited by 4
A novel TIMP3 mutation associated with a retinitis pigmentosa-like phenotype
DeBenedictis, M. J., Gindzin, Y., Glaab, E., & Anand‐Apte, B. (2020) · Ophthalmic Genetics · doi:10.1080/13816810.2020.1795889 · Cited by 4
Molecular and Cellular Regulations in the Development of the Choroidal Circulation System
Imanishi, S., Tomita, Y., Negishi, K., Tsubota, K., & Kurihara, T. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24065371 · Cited by 4
Animal Models for Age-Related Macular Degeneration
Hollyfield, J. G., & Kuttner-Kondo, L. A. (2009) · Neuromethods · doi:10.1007/978-1-60761-541-5_5 · Cited by 4
Hereditary Chorioretinal Dystrophies
(2010) · Elsevier eBooks · doi:10.1016/b978-0-7020-3320-9.50010-6 · Cited by 4
Retinal dystrophies and genetic counselling
Jay, M., & Gregory-Evans, K. (1996) · Acta Ophthalmologica Scandinavica · doi:10.1111/j.1600-0420.1996.tb00371.x · Cited by 4
The revolution in molecular genetics and its impact on ophthalmology
Della, N. G. (1996) · Australian and New Zealand Journal of Ophthalmology · doi:10.1111/j.1442-9071.1996.tb01560.x · Cited by 4
Recent Advances in the Molecular Genetics of Hereditary Retinal Dystrophies with Primary Involvement of the Macula
Weber, B. H. F. (1998) · Cells Tissues Organs · doi:10.1159/000046470 · Cited by 4
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Gray-Keller, M. P., & Detwiler, P. B. (1995) · Behavioral and Brain Sciences · doi:10.1017/s0140525x00039303 · Cited by 4
Tissue inhibitor of metalloproteinase-3 differentially binds to components of Bruch's membrane
Majid, M. A. (2006) · British Journal of Ophthalmology · doi:10.1136/bjo.2006.097246 · Cited by 4
Epidemiology and Risk Factors for Age-Related Macular Degeneration
Seddon, J. M., & Sobrin, L. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4557-0737-9.00063-1 · Cited by 3
Genome Analysis for Inherited Retinal Disease: The State of the Art
Oprych, K., Silva, R. S., Pontikos, N., & Arno, G. (2021) · Essentials in ophthalmology/Essentials ophthalmology · doi:10.1007/978-981-15-9184-6_12 · Cited by 3

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

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

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