Publications:

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An Arg124Cys mutation in transforming growth factor β-induced gene associated with lattice corneal dystrophy type I in a Chinese pedigree.

Indian Journal Of Ophthalmology

Li, Feng F; He, Jiahuan J; Bai, Hua H; Huang, Yifei Y; Wang, Fang F; Tian, Lei L

Publication Date: 2022-01

Variant appearance in text: TGFBI: A546T

PubMed Link: 34937214

Variant Present in the following documents:

• IJO-70-85.pdf

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Mutation-induced dimerization of transforming growth factor-β-induced protein may drive protein aggregation in granular corneal dystrophy.

The Journal Of Biological Chemistry

Nielsen, Nadia Sukusu NS; Gadeberg, Trine A F TAF; Poulsen, Ebbe Toftgaard ET; Harwood, Seandean Lykke SL; Weberskov, Christian E CE; Pedersen, Jan Skov JS; Andersen, Gregers R GR; Enghild, Jan J JJ

Publication Date: 2021-07

Variant appearance in text: TGFBI: A546T

PubMed Link: 34097874

Variant Present in the following documents:

• Main text
• main.pdf

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Genotypic Homogeneity in Distinctive Transforming Growth Factor-Beta Induced (TGFBI) Protein Phenotypes.

International Journal Of Molecular Sciences

Han, Sang Beom SB; Anandalakshmi, Venkatraman V; Wong, Chee Wai CW; Ng, Si Rui SR; Mehta, Jodhbir S JS

Publication Date: 2021-01-27

Variant appearance in text: TGFBI: A546T

PubMed Link: 33513810

Variant Present in the following documents:

• Main text
• ijms-22-01230.pdf

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A pathogenic variant in the transforming growth factor beta I (TGFBI) in four Iranian extended families segregating granular corneal dystrophy type II: A literature review.

Iranian Journal Of Basic Medical Sciences

Mohammadi, Aliasgar A; Ahmadi Shadmehri, Azam A; Taghavi, Mahnaz M; Yaghoobi, Gholamhossein G; Pourreza, Mohammad Reza MR; Tabatabaiefar, Mohammad Amin MA

Publication Date: 2020-08

Variant appearance in text: LCD1: 1636G>A

PubMed Link: 32952948

Variant Present in the following documents:

• Main text
• IJBMS-23-1020.pdf

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Pharmaceutical modulation of the proteolytic profile of Transforming Growth Factor Beta induced protein (TGFBIp) offers a new avenue for treatment of TGFBI-corneal dystrophy.

Journal Of Advanced Research

Venkatraman, Anandalakshmi A; Duong-Thi, Minh-Dao MD; Pervushin, Konstantin K; Ohlson, Sten S; Mehta, Jodhbir Singh JS

Publication Date: 2020-07

Variant appearance in text: TGFBI: A546T

PubMed Link: 32637173

Variant Present in the following documents:

• Main text
• main.pdf

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The serine protease HtrA1 cleaves misfolded transforming growth factor β-induced protein (TGFBIp) and induces amyloid formation.

The Journal Of Biological Chemistry

Poulsen, Ebbe Toftgaard ET; Nielsen, Nadia Sukusu NS; Scavenius, Carsten C; Mogensen, Emilie Hage EH; Risør, Michael W MW; Runager, Kasper K; Lukassen, Marie V MV; Rasmussen, Casper B CB; Christiansen, Gunna G; Richner, Mette M; Vorum, Henrik H; Enghild, Jan J JJ

Publication Date: 2019-08-02

Variant appearance in text: TGFBI: A546T

PubMed Link: 31197037

Variant Present in the following documents:

• Main text
• zbc11817.pdf

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Conservation of the Amyloid Interactome Across Diverse Fibrillar Structures.

Scientific Reports

Juhl, Dennis Wilkens DW; Risør, Michael Wulff MW; Scavenius, Carsten C; Rasmussen, Casper Bøjer CB; Otzen, Daniel D; Nielsen, Niels Chr NC; Enghild, Jan J JJ

Publication Date: 2019-03-07

Variant appearance in text: TGFBI: A546T

PubMed Link: 30846764

Variant Present in the following documents:

• 41598_2019_Article_40483.pdf

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Collagen fiber changes related to keratoconus with secondary corneal amyloidosis.

International Medical Case Reports Journal

Araki-Sasaki, Kaoru K; Osakabe, Yasuhiro Y; Fujita, Koji K; Miyata, Kazunori K; Hirano, Koji K

Publication Date: 2018

Variant appearance in text: TGFBI: A546T

PubMed Link: 30214321

Variant Present in the following documents:

• imcrj-11-193.pdf

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Towards personalised allele-specific CRISPR gene editing to treat autosomal dominant disorders.

Scientific Reports

Christie, Kathleen A KA; Courtney, David G DG; DeDionisio, Larry A LA; Shern, Connie Chao CC; De Majumdar, Shyamasree S; Mairs, Laura C LC; Nesbit, M Andrew MA; Moore, C B Tara CBT

Publication Date: 2017-11-23

Variant appearance in text: TGFBI: A546T

PubMed Link: 29170458

Variant Present in the following documents:

• 41598_2017_16279_MOESM1_ESM.pdf

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Effect of position-specific single-point mutations and biophysical characterization of amyloidogenic peptide fragments identified from lattice corneal dystrophy patients.

The Biochemical Journal

Anandalakshmi, Venkatraman V; Murugan, Elavazhagan E; Leng, Eunice Goh Tze EGT; Ting, Lim Wei LW; Chaurasia, Shyam S SS; Yamazaki, Toshio T; Nagashima, Toshio T; George, Benjamin Lawrence BL; Peh, Gary Swee Lim GSL; Pervushin, Konstantin K; Lakshminarayanan, Rajamani R; Mehta, Jodhbir S JS

Publication Date: 2017-05-09

Variant appearance in text: TGFBI: A546T

PubMed Link: 28381645

Variant Present in the following documents:

• Main text
• BCJ-474-1705.pdf

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pH Induced Conformational Transitions in the Transforming Growth Factor β-Induced Protein (TGFβIp) Associated Corneal Dystrophy Mutants.

Scientific Reports

Murugan, Elavazhagan E; Venkatraman, Anandalakshmi A; Lei, Zhou Z; Mouvet, Victoria V; Rui Yi Lim, Rayne R; Muruganantham, Nandhakumar N; Goh, Eunice E; Swee Lim Peh, Gary G; Beuerman, Roger W RW; Chaurasia, Shyam S SS; Rajamani, Lakshminarayanan L; Mehta, Jodhbir S JS

Publication Date: 2016-03-31

Variant appearance in text: TGFBI: A546T

PubMed Link: 27030015

Variant Present in the following documents:

• srep23836.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: CDGG1: A546T

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Early Events in the Amyloid Formation of the A546T Mutant of Transforming Growth Factor β-Induced Protein in Corneal Dystrophies Compared to the Nonfibrillating R555W and R555Q Mutants.

Biochemistry

Koldsø, Heidi H; Andersen, Ole Juul OJ; Nikolajsen, Camilla Lund CL; Scavenius, Carsten C; Sørensen, Charlotte S CS; Underhaug, Jarl J; Runager, Kasper K; Nielsen, Niels Chr NC; Enghild, Jan J JJ; Schiøtt, Birgit B

Publication Date: 2015-09-15

Variant appearance in text: TGFBI: A546T

PubMed Link: 26305369

Variant Present in the following documents:

• Main text

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CRISPR/Cas9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT12 mutation-specific targeting.

Gene Therapy

Courtney, D G DG; Moore, J E JE; Atkinson, S D SD; Maurizi, E E; Allen, E H A EH; Pedrioli, D M L DM; McLean, W H I WH; Nesbit, M A MA; Moore, C B T CB

Publication Date: 2016-01

Variant appearance in text: TGFBI: A546T

PubMed Link: 26289666

Variant Present in the following documents:

• gt201582x1.xls, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: TGFBI: A546T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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Fibril Core of Transforming Growth Factor Beta-Induced Protein (TGFBIp) Facilitates Aggregation of Corneal TGFBIp.

Biochemistry

Sørensen, Charlotte S CS; Runager, Kasper K; Scavenius, Carsten C; Jensen, Morten M MM; Nielsen, Nadia S NS; Christiansen, Gunna G; Petersen, Steen V SV; Karring, Henrik H; Sanggaard, Kristian W KW; Enghild, Jan J JJ

Publication Date: 2015-05-19

Variant appearance in text: TGFBI: A546T

PubMed Link: 25910219

Variant Present in the following documents:

• Main text

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Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) gene.

Proteomics. Clinical Applications

Poulsen, Ebbe Toftgaard ET; Runager, Kasper K; Risør, Michael W MW; Dyrlund, Thomas F TF; Scavenius, Carsten C; Karring, Henrik H; Praetorius, Jeppe J; Vorum, Henrik H; Otzen, Daniel E DE; Klintworth, Gordon K GK; Enghild, Jan J JJ

Publication Date: 2014-04

Variant appearance in text: TGFBI: A546T

PubMed Link: 24302499

Variant Present in the following documents:

• Main text

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Serine protease HtrA1 accumulates in corneal transforming growth factor beta induced protein (TGFBIp) amyloid deposits.

Molecular Vision

Karring, Henrik H; Poulsen, Ebbe Toftgaard ET; Runager, Kasper K; Thøgersen, Ida B IB; Klintworth, Gordon K GK; Højrup, Peter P; Enghild, Jan J JJ

Publication Date: 2013

Variant appearance in text: TGFBI: A546T

PubMed Link: 23592924

Variant Present in the following documents:

• Main text

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Altered protein conformation and lower stability of the dystrophic transforming growth factor beta-induced protein mutants.

Molecular Vision

Grothe, Heather L HL; Little, Morgan R MR; Sjogren, Phayvanh P PP; Chang, Angela A AA; Nelson, Elizabeth F EF; Yuan, Ching C

Publication Date: 2013

Variant appearance in text: TGFBI: A546T

PubMed Link: 23559853

Variant Present in the following documents:

• Main text

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TGFBI gene mutations in a Korean population with corneal dystrophy.

Molecular Vision

Cho, Kyong Jin KJ; Mok, Jee Won JW; Na, Kyung Sun KS; Rho, Chang Rae CR; Byun, Yong Soo YS; Hwang, Ho Sik HS; Hwang, Kyu Yeon KY; Joo, Choun-Ki CK

Publication Date: 2012

Variant appearance in text: LCD1: A546T

PubMed Link: 22876129

Variant Present in the following documents:

• Main text
• mv-v18-2012.pdf

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Phenotype-genotype correlations in patients with TGFBI-linked corneal dystrophies in Taiwan.

Molecular Vision

Hou, Yu-Chih YC; Wang, I-Jong IJ; Hsiao, Cheng-Hsiang CH; Chen, Wei-Li WL; Hu, Fung-Rong FR

Publication Date: 2012

Variant appearance in text: LCD1: A546T

PubMed Link: 22355247

Variant Present in the following documents:

• Main text
• mv-v18-362.pdf

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Unique TGFBI protein in lattice corneal dystrophy.

Investigative Ophthalmology & Visual Science

Han, Yu-Ping YP; Sim, Austin J AJ; Vora, Smita C SC; Huang, Andrew J W AJ

Publication Date: 2011-10-28

Variant appearance in text: LCD1: Ala546Thr

PubMed Link: 21948648

Variant Present in the following documents:

• Main text

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Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy.

Journal Of Zhejiang University. Science. B

Long, Yan Y; Gu, Yang-Shun YS; Han, Wei W; Li, Xiu-Yi XY; Yu, Ping P; Qi, Ming M

Publication Date: 2011-04

Variant appearance in text: TGFBI: A546T

PubMed Link: 21462384

Variant Present in the following documents:

• Main text

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Human phenotypically distinct TGFBI corneal dystrophies are linked to the stability of the fourth FAS1 domain of TGFBIp.

The Journal Of Biological Chemistry

Runager, Kasper K; Basaiawmoit, Rajiv V RV; Deva, Taru T; Andreasen, Maria M; Valnickova, Zuzana Z; Sørensen, Charlotte S CS; Karring, Henrik H; Thøgersen, Ida B IB; Christiansen, Gunna G; Underhaug, Jarl J; Kristensen, Torsten T; Nielsen, Niels Chr NC; Klintworth, Gordon K GK; Otzen, Daniel E DE; Enghild, Jan J JJ

Publication Date: 2011-02-18

Variant appearance in text: TGFBI: A546T

PubMed Link: 21135107

Variant Present in the following documents:

• Main text

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Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature.

Molecular Vision

Yang, Juhua J; Han, Xiaoli X; Huang, Dinggou D; Yu, Lin L; Zhu, Yihua Y; Tong, Yi Y; Zhu, Binliang B; Li, Chuanbao C; Weng, Mingshe M; Ma, Xu X

Publication Date: 2010-06-30

Variant appearance in text: LCD1: A546T

PubMed Link: 20664689

Variant Present in the following documents:

• Main text
• mv-v16-1186.pdf

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Differential expression and processing of transforming growth factor beta induced protein (TGFBIp) in the normal human cornea during postnatal development and aging.

Experimental Eye Research

Karring, Henrik H; Runager, Kasper K; Valnickova, Zuzana Z; Thøgersen, Ida B IB; Møller-Pedersen, Torben T; Klintworth, Gordon K GK; Enghild, Jan J JJ

Publication Date: 2010-01

Variant appearance in text: TGFBI: A546T

PubMed Link: 19788893

Variant Present in the following documents:

• Main text

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Double mutation (R124H, N544S) of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies.

Molecular Vision

Yamada, Naoyuki N; Kawamoto, Koji K; Morishige, Naoyuki N; Chikama, Tai-ichiro T; Nishida, Teruo T; Nishioka, Mitsuaki M; Okayama, Naoko N; Hinoda, Yuji Y

Publication Date: 2009-05-15

Variant appearance in text: TGFBI: A546T

PubMed Link: 19461933

Variant Present in the following documents:

• Main text
• mv-v15-974.pdf

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The IC3D classification of the corneal dystrophies.

Cornea

Weiss, Jayne S JS; Møller, H U HU; Lisch, Walter W; Kinoshita, Shigeru S; Aldave, Anthony J AJ; Belin, Michael W MW; Kivelä, Tero T; Busin, Massimo M; Munier, Francis L FL; Seitz, Berthold B; Sutphin, John J; Bredrup, Cecilie C; Mannis, Mark J MJ; Rapuano, Christopher J CJ; Van Rij, Gabriel G; Kim, Eung Kweon EK; Klintworth, Gordon K GK

Publication Date: 2008-12

Variant appearance in text: TGFBI: 1636G>A

PubMed Link: 19337156

Variant Present in the following documents:

• Main text

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Homozygous mutation (L527R) of TGFBI in an individual with lattice corneal dystrophy.

The British Journal Of Ophthalmology

Yamada, N N; Chikama, T-I TI; Morishige, N N; Yanai, R R; Nishida, T T; Inui, M M; Seki, K K

Publication Date: 2005-06

Variant appearance in text: TGFBI: A546T

PubMed Link: 15923518

Variant Present in the following documents:

• Main text

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