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1

Page, Lionel, Bozena Polok, Mauro Bustamante, and Daniel F. Schorderet. "Bigh3 Is Upregulated in Regenerating Zebrafish Fin." Zebrafish 10, no. 1 (March 2013): 36–42. http://dx.doi.org/10.1089/zeb.2012.0759.

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2

Ellies, Pierre, Gilles Renard, Sophie Valleix, Pierre Yves Boelle, and Paul Dighiero. "Clinical outcome of eight BIGH3-linked corneal dystrophies." Ophthalmology 109, no. 4 (April 2002): 793–97. http://dx.doi.org/10.1016/s0161-6420(01)01025-9.

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3

Allaman-Pillet, Nathalie, Anne Oberson, Mauro Bustamante, Andrea Tasinato, Edith Hummler, and Daniel F. Schorderet. "Tgfbi/Bigh3 silencing activates ERK in mouse retina." Experimental Eye Research 140 (November 2015): 159–70. http://dx.doi.org/10.1016/j.exer.2015.09.004.

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4

Schmitt-Bernard, C. F., Y. Pouliquen, and A. Argilès. "Protéine BIGH3 : mutation du codon 124 et amylose cornéenne." Journal Français d'Ophtalmologie 27, no. 5 (May 2004): 510–22. http://dx.doi.org/10.1016/s0181-5512(04)96173-6.

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5

Shah, A. A., G. Wen, K. S. C. Chao, and T. K. Hei. "The Role of BigH3 in Mesothelioma Pathogenesis and Radiosensitivity." International Journal of Radiation Oncology*Biology*Physics 78, no. 3 (November 2010): S627. http://dx.doi.org/10.1016/j.ijrobp.2010.07.1459.

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6

Mondragon, Albert A., Brandi S. Betts-Obregon, Robert J. Moritz, Kalpana Parvathaneni, Mary M. Navarro, Hong Seok Kim, Chi Fung Lee, Richard G. LeBaron, Reto Asmis, and Andrew T. Tsin. "BIGH3 protein and macrophages in retinal endothelial cell apoptosis." Apoptosis 20, no. 1 (November 7, 2014): 29–37. http://dx.doi.org/10.1007/s10495-014-1052-6.

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7

Thoma, Brian S., Robert J. Moritz, Fatemeh Rezapoor, Chandler T. Sargent, Clyde F. Phelix, and Richard G. LeBaron. "BIGH3: A Negative Regulator of Human Osteosarcoma Large Multicellular Spheroids." International Journal of Clinical Medicine 07, no. 11 (2016): 771–91. http://dx.doi.org/10.4236/ijcm.2016.711084.

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8

Kocak-Altintas, Ayse Gül, Inci Kocak-Midillioglu, A. Nurten Akarsu, and Sunay Duman. "BIGH3 Gene Analysis in the Differential Diagnosis of Corneal Dystrophies." Cornea 20, no. 1 (January 2001): 64–68. http://dx.doi.org/10.1097/00003226-200101000-00013.

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9

Klamer, Sofieke E., Carlijn GM Kuijk, Peter L. Hordijk, C. Ellen van der Schoot, Marieke von Lindern, Paula B. van Hennik, and Carlijn Voermans. "BIGH3 modulates adhesion and migration of hematopoietic stem and progenitor cells." Cell Adhesion & Migration 7, no. 5 (September 25, 2013): 434–49. http://dx.doi.org/10.4161/cam.26596.

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10

Ellies, Pierre, Riad Antoine Bejjani, Jean Louis Bourges, Pierre Yves Boelle, Gilles Renard, and Paul Dighiero. "Phototherapeutic keratectomy for BIGH3-linked corneal dystrophy recurring after penetrating keratoplasty." Ophthalmology 110, no. 6 (June 2003): 1119–25. http://dx.doi.org/10.1016/s0161-6420(03)00229-x.

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11

Schorderet, Daniel F., Maurice Menasche, Sabine Morand, Sébastien Bonnel, Valérie Büchillier, Dominique Marchant, Katya Auderset, Christophe Bonny, Marc Abitbol, and Francis L. Munier. "Genomic Characterization and Embryonic Expression of the Mouse Bigh3 (Tgfbi) Gene." Biochemical and Biophysical Research Communications 274, no. 2 (August 2000): 267–74. http://dx.doi.org/10.1006/bbrc.2000.3116.

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12

Kim, Hae-Sook, Sungjoo Kim Yoon, Beom-Jin Cho, Eung Kweon Kim, and Choun-Ki Joo. "BIGH3 Gene Mutations and Rapid Detection in Korean Patients With Corneal Dystrophy." Cornea 20, no. 8 (November 2001): 844–49. http://dx.doi.org/10.1097/00003226-200111000-00013.

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13

LIAO, XIN, HONGPING CUI, and FANG WANG. "Establishment of a transgenic mouse model of corneal dystrophy overexpressing human BIGH3." International Journal of Molecular Medicine 32, no. 5 (September 4, 2013): 1110–14. http://dx.doi.org/10.3892/ijmm.2013.1480.

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14

Huerva, V., A. Velasco, M. C. Sánchez, and X. Matías-Guiu. "Role of BIGH3 R124H Mutation in the Diagnosis of Avellino Corneal Dystrophy." European Journal of Ophthalmology 18, no. 3 (May 2008): 345–50. http://dx.doi.org/10.1177/112067210801800305.

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15

El-Ashry, M. F., M. M. Abd El-Aziz, L. A. Ficker, A. J. Hardcastle, S. S. Bhattacharya, and N. D. Ebenezer. "BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI." Eye 18, no. 7 (March 12, 2004): 723–28. http://dx.doi.org/10.1038/sj.eye.6701313.

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16

Diaper, C. J. M., D. F. Schorderet, P. Chaubert, and F. L. Munier. "Clinical and immunopathological corneal phenotype in homozygotes for the BIGH3 R124H mutation." Eye 19, no. 1 (April 16, 2004): 92–96. http://dx.doi.org/10.1038/sj.eye.6701398.

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17

Morand, Sabine, Vale´rie Buchillier, Fabienne Maurer, Christophe Bonny, Yvan Arsenijevic, Francis L. Munier, and Daniel F. Schorderet. "Induction of Apoptosis in Human Corneal and HeLa Cells by Mutated BIGH3." Investigative Opthalmology & Visual Science 44, no. 7 (July 1, 2003): 2973. http://dx.doi.org/10.1167/iovs.02-0661.

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18

Hilton, E. N., G. C. M. Black, F. D. C. Manson, D. F. Schorderet, and F. L. Munier. "De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy." British Journal of Ophthalmology 91, no. 8 (July 17, 2007): 1083–84. http://dx.doi.org/10.1136/bjo.2006.103283.

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19

Allaman-Pillet, Nathalie, Anne Oberson, and Daniel F. Schorderet. "Bigh3 silencing increases retinoblastoma tumor growth in the murine SV40-TAg-Rb model." Oncotarget 8, no. 9 (January 14, 2017): 15490–506. http://dx.doi.org/10.18632/oncotarget.14659.

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20

Yoo, Ji-Ho, EungKweon Kim, Jongsun Kim, and Hyun-Soo Cho. "Crystallization and preliminary crystallographic analysis of the fourth FAS1 domain of human BigH3." Acta Crystallographica Section F Structural Biology and Crystallization Communications 63, no. 10 (September 29, 2007): 893–95. http://dx.doi.org/10.1107/s1744309107039358.

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21

Schmitt-Bernard, Clair-Florent, Alain Chavanieu, Gudrun Herrada, Guy Subra, Bernard Arnaud, Jacques G. Demaille, Bernard Calas, and Ángel Argilés. "BIGH3 (TGFBI) Arg124 mutations influence the amyloid conversion of related peptides in vitro." European Journal of Biochemistry 269, no. 21 (October 17, 2002): 5149–56. http://dx.doi.org/10.1046/j.1432-1033.2002.03205.x.

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22

Mashima, Yukihiko, Shuji Yamamoto, Yoshitsugu Inoue, Masakazu Yamada, Minako Konishi, Hitoshi Watanabe, Naoyuki Maeda, Yoshikazu Shimomura, and Shigeru Kinoshita. "Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan." American Journal of Ophthalmology 130, no. 4 (October 2000): 516–17. http://dx.doi.org/10.1016/s0002-9394(00)00571-7.

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23

LeBaron, Richard G., Louis Perez, Lois Randolf, and Clyde F. Phelix. "A TGFβ1‐BIGH3‐Apoptosis Axis Comprising Peptidase and Integrin α3β1 Promotes Renal Cell Death." FASEB Journal 34, S1 (April 2020): 1. http://dx.doi.org/10.1096/fasebj.2020.34.s1.03078.

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24

Pan, Tianhong, Song-Chang Lin, Kai-Jie Yu, Guoyu Yu, Jian H. Song, Valerae O. Lewis, Justin E. Bird, et al. "BIGH3 Promotes Osteolytic Lesions in Renal Cell Carcinoma Bone Metastasis by Inhibiting Osteoblast Differentiation." Neoplasia 20, no. 1 (January 2018): 32–43. http://dx.doi.org/10.1016/j.neo.2017.11.002.

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25

Boutboul, Sandrine, Graeme C. M. Black, John E. Moore, Janet Sinton, Maurice Menasche, Francis L. Munier, Laurent Laroche, Marc Abitbol, and Daniel F. Schorderet. "A subset of patients with epithelial basement membrane corneal dystrophy have mutations inTGFBI/BIGH3." Human Mutation 27, no. 6 (2006): 553–57. http://dx.doi.org/10.1002/humu.20331.

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26

Betts-Obregon, B. S., A. A. Mondragon, A. S. Mendiola, R. G. LeBaron, R. Asmis, T. Zou, F. Gonzalez-Fernandez, and A. T. Tsin. "TGFβ induces BIGH3 expression and human retinal pericyte apoptosis: a novel pathway of diabetic retinopathy." Eye 30, no. 12 (August 26, 2016): 1639–47. http://dx.doi.org/10.1038/eye.2016.179.

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27

Chau, H. M. "H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people." British Journal of Ophthalmology 87, no. 6 (June 1, 2003): 686–89. http://dx.doi.org/10.1136/bjo.87.6.686.

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28

Konishi, Minako, Masakazu Yamada, Yu Nakamura, and Yukihiko Mashima. "Immunohistology of kerato-epithelin in corneal stromal dystrophies associated with R124 mutations of the BIGH3 gene." Current Eye Research 21, no. 5 (January 2000): 891–96. http://dx.doi.org/10.1076/ceyr.21.5.891.5536.

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29

Yoshida, S. "An Analysis of BIGH3 Mutations in Patients with Corneal Dystrophies in the Kyushu District of Japan." Japanese Journal of Ophthalmology 46, no. 4 (August 2002): 469–71. http://dx.doi.org/10.1016/s0021-5155(02)00528-2.

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30

Gruenauer-Kloevekorn, C., I. Clausen, E. Weidle, M. Wolter-Roessler, F. Tost, H. E. Volcker, D. P. Schulze, et al. "TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings." British Journal of Ophthalmology 93, no. 7 (November 10, 2008): 932–37. http://dx.doi.org/10.1136/bjo.2008.142927.

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31

Kim, Saetbyeol, Su-Nam Jeong, Sangsu Bae, Hoeil Chung, and So Young Yoo. "Sensitive Surface Enhanced Raman Scattering-Based Detection of a BIGH3 Point Mutation Associated with Avellino Corneal Dystrophy." Analytical Chemistry 88, no. 23 (November 14, 2016): 11288–92. http://dx.doi.org/10.1021/acs.analchem.6b03320.

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32

Klintworth, G. K. "Two Mutations in the TGFBI (BIGH3) Gene Associated with Lattice Corneal Dystrophy in an Extensively Studied Family." Investigative Ophthalmology & Visual Science 45, no. 5 (May 1, 2004): 1382–88. http://dx.doi.org/10.1167/iovs.03-1228.

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33

Warren, John F., Richard L. Abbott, Michael K. Yoon, J. Brooks Crawford, William H. Spencer, and Todd P. Margolis. "A new mutation (Leu569Arg) within Exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I." American Journal of Ophthalmology 136, no. 5 (November 2003): 872–78. http://dx.doi.org/10.1016/s0002-9394(03)00541-5.

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34

EIFRIG, D. "Polymorphic corneal amyloidosis*1A disorder due to a novel mutation in the Transforming Growth Factor ??Induced (BIGH3) gene." Ophthalmology 111, no. 6 (June 2004): 1108–14. http://dx.doi.org/10.1016/j.ophtha.2003.09.043.

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35

Dighiero, P. "Clinical, histologic, and ultrastructural features of the corneal dystrophy caused by the R124L mutation of the BIGH3 gene." Ophthalmology 107, no. 7 (July 2000): 1353–57. http://dx.doi.org/10.1016/s0161-6420(00)00149-4.

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36

Ge, Hongyan, Pei Tian, Linan Guan, Xiuli Yin, Hanruo Liu, Nan Xiao, Yongzhong Xiong, et al. "A C-terminal fragment BIGH3 protein with an RGDRGD motif inhibits corneal neovascularization in vitro and in vivo." Experimental Eye Research 112 (July 2013): 10–20. http://dx.doi.org/10.1016/j.exer.2013.03.014.

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37

Zhao, Xinping C., Hisashi Nakamura, Sumitra Subramanyam, Lee E. Stock, Thomas E. Gillette, Shunichi Yoshikawa, Xiaoping Ma, and Richard W. Yee. "Spontaneous and Inheritable R555Q Mutation in the TGFBI/BIGH3 Gene in Two Unrelated Families Exhibiting Bowman’s Layer Corneal Dystrophy." Ophthalmology 114, no. 11 (November 2007): e39-e46. http://dx.doi.org/10.1016/j.ophtha.2007.07.029.

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38

Stewart, Helen S., Alan E. Ridgway, Michael J. Dixon, Richard Bonshek, Rahat Parveen, and Graeme Black. "Heterogeneity in granular corneal dystrophy: Identification of three causative mutations in the TGFBI (BIGH3) gene?Lessons for corneal amyloidogenesis." Human Mutation 14, no. 2 (1999): 126–32. http://dx.doi.org/10.1002/(sici)1098-1004(1999)14:2<126::aid-humu4>3.0.co;2-w.

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39

Konishi, Minako, Yukihiko Mashima, Masakazu Yamada, Jun Kudoh, and Nobuyoshi Shimizu. "The classic form of granular corneal dystrophy associated with R555W mutation in the BIGH3 gene is rare in Japanese patients." American Journal of Ophthalmology 126, no. 3 (September 1998): 450–52. http://dx.doi.org/10.1016/s0002-9394(98)00105-6.

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40

Xu, Chen, Abhimanyu Thakur, Zebiao Li, Tian Yang, Chenghao Zhao, Yangyang Li, Youngjin Lee, and Chi-Man Lawrence Wu. "Determination of glioma cells’ malignancy and their response to TMZ via detecting exosomal BIGH3 by a TiO2-CTFE-AuNIs plasmonic biosensor." Chemical Engineering Journal 415 (July 2021): 128948. http://dx.doi.org/10.1016/j.cej.2021.128948.

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41

Ivanov, Sergey V., Alla V. Ivanova, Konstantin Salnikow, Olga Timofeeva, Malayannan Subramaniam, and Michael I. Lerman. "Two novel VHL targets, TGFBI (BIGH3) and its transactivator KLF10, are up-regulated in renal clear cell carcinoma and other tumors." Biochemical and Biophysical Research Communications 370, no. 4 (June 2008): 536–40. http://dx.doi.org/10.1016/j.bbrc.2008.03.066.

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42

Bhagirath, Divya, Nitin Abrol, Rehan Khan, Manoj Sharma, Amlesh Seth, and Alpana Sharma. "Expression of CD147, BIGH3 and Stathmin and their potential role as diagnostic marker in patients with urothelial carcinoma of the bladder." Clinica Chimica Acta 413, no. 19-20 (October 2012): 1641–46. http://dx.doi.org/10.1016/j.cca.2012.05.005.

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43

Yu, Ping, Yangshun Gu, Yuehong Yang, Xiaoyi Yan, Liu Chen, Zhen Ge, Ming Qi, Jianmin Si, and Lei Guo. "A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in theTGFBI (BIGH3) gene." Journal of Genetics 85, no. 1 (April 2006): 73–76. http://dx.doi.org/10.1007/bf02728974.

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44

Mashima, Yukihiko. "A Novel Mutation at Codon 124 (R124L) in the BIGH3 Gene Is Associated With a Superficial Variant of Granular Corneal Dystrophy." Archives of Ophthalmology 117, no. 1 (January 1, 1999): 90. http://dx.doi.org/10.1001/archopht.117.1.90.

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45

Bykhovskaya, Yelena, Anastasia Gromova, Helen P. Makarenkova, and Yaron S. Rabinowitz. "Abnormal Regulation of Extracellular Matrix and Adhesion Molecules in Corneas of Patients with Keratoconus." International Journal of Keratoconus and Ectatic Corneal Diseases 5, no. 2 (2016): 63–70. http://dx.doi.org/10.5005/jp-journals-10025-1123.

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Abstract:
ABSTRACT Aim To identify changes in the expression of genes coding for extracellular matrix (ECM) proteins in patients with noninflammatory corneal disorder keratoconus (KC), patients with corneal scarring, and normal controls. Materials and methods Total ribonucleic acid extracted from corneal tissue of 13 KC patients, 2 patients with corneal scaring, and 4 normal controls was analyzed using Human Extracellular Matrix & Adhesion Molecules Profiler Polymerase Chain Reaction Array. Statistically significant changes in gene expression were identified using the Data Analysis software. Results Comparison of KC and control corneas with thresholds of 1.5 or greater fold change and a p-value of 0.05 or lower revealed 21 differentially expressed genes: 16 genes were downregulated and 5 were upregulated. Among transcripts downregulated in KC patients, we identified thrombospondin 1, disintegrin and metalloproteinase with thrombospondin motif 1, secreted phosphoprotein 1, several collagens, and integrins. We found transforming growth factor beta-induced (TGFBI or BIGH3) gene was the most significantly upregulated transcript. Conclusion The development of KC results in deregulation of gene expression of ECM and adhesion molecules. Clinical significance Downregulation of collagens and upregulation of TGFBI repeatedly identified in KC patients may be used as clinical markers of the disease. How to cite this article Bykhovskaya Y, Gromova A, Makarenkova HP, Rabinowitz YS. Abnormal Regulation of Extracellular Matrix and Adhesion Molecules in Corneas of Patients with Keratoconus. Int J Kerat Ect Cor Dis 2016;5(2):63-70.
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46

Stewart, Helen, Graeme C. M. Black, Dian Donnai, Richard E. Bonshek, John McCarthy, Steven Morgan, Michael J. Dixon, and Alan A. E. Ridgway. "A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy." Ophthalmology 106, no. 5 (May 1999): 964–70. http://dx.doi.org/10.1016/s0161-6420(99)00539-4.

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47

Schmitt-Bernard, Clair-Florent, Christelle Schneider, and Àngel Argilés. "Clinical, Histopathologic, and Ultrastructural Characteristics of BIGH3(TGFBI) Amyloid Corneal Dystrophies are Supportive of the Existence of a New Type of LCD: The LCDi." Cornea 21, no. 5 (July 2002): 463–68. http://dx.doi.org/10.1097/00003226-200207000-00006.

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48

J. Moritz, Robert, Richard G. LeBaron, Clyde F. Phelix, Rajesha Rupaimoole, Hong Seok Kim, Andrew Tsin, and Reto Asmis. "Macrophage TGF-<i>β</i>1 and the Proapoptotic Extracellular Matrix Protein BIGH3 Induce Renal Cell Apoptosis in Prediabetic and Diabetic Conditions." International Journal of Clinical Medicine 07, no. 07 (2016): 496–510. http://dx.doi.org/10.4236/ijcm.2016.77055.

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49

Grünauer-Kloevekorn, C., S. Bräutigam, M. Wolter-Roessler, F. Tost, E. Weidle, U. Froster, and G. I. W. Duncker. "Molekulargenetische Analyse des BIGH3-Gens bei gittriger Hornhautdystrophie Typ I (Biber-Haab-Dimmer) und bei bröckliger Hornhautdystrophie Typ II (Avellino): Erlauben Hot Spots einen indirekten Mutationsnachweis?" Klinische Monatsblätter für Augenheilkunde 222, no. 12 (2005): 1017–23. http://dx.doi.org/10.1055/s-2005-858589.

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50

Ha, Nguyen Thanh, Keiko Fujiki, Yoshihiro Hotta, Kiyoo Nakayasu, and Atsushi Kanai. "Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the p501t of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy." American Journal of Ophthalmology 130, no. 1 (July 2000): 119–20. http://dx.doi.org/10.1016/s0002-9394(00)00596-1.

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