Publications:

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In vivo confocal microscopy qualitative investigation of the relationships between lattice corneal dystrophy deposition and corneal nerves.

Bmc Ophthalmology

Zhu, Fengjiao F; Li, Ming M; Zhang, Chun C; Chen, Chan C; Ying, Fangwei F; Nie, Danyao D

Publication Date: 2021-12-27

Variant appearance in text: TGFBI: H572R

PubMed Link: 34961485

Variant Present in the following documents:

• 12886_2021_Article_2149.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: H572R

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: H572R

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: H572R

PubMed Link: 32637173

Variant Present in the following documents:

• Main text
• main.pdf

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Association of unilateral lattice corneal dystrophy on slit lamp and bilateral confocal microscopy features with H572R mutation in the TGFBI gene.

Eye (London, England)

De Sousa Peixoto, Ricardo R; Mutch, Stacey S; Eason, Jacqueline J; Jaakson, Kaie K; Haamer, Eneli E; Maharajan, Veerabahu Senthil VS

Publication Date: 2019-12

Variant appearance in text: TGFBI: 1715A>G; H572R

PubMed Link: 31270466

Variant Present in the following documents:

• Main text

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Evaluation of TGFBI corneal dystrophy and molecular diagnostic testing.

Eye (London, England)

Chao-Shern, Connie C; DeDionisio, Lawrence A LA; Jang, Jun-Heok JH; Chan, Clara C CC; Thompson, Vance V; Christie, Kathleen K; Nesbit, M Andrew MA; McMullen, C B Tara CBT

Publication Date: 2019-06

Variant appearance in text: TGFBI: H572R

PubMed Link: 30760895

Variant Present in the following documents:

• Main text
• 41433_2019_Article_346.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: H572R

PubMed Link: 29170458

Variant Present in the following documents:

• 41598_2017_16279_MOESM1_ESM.pdf

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Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy.

Journal Of Ophthalmology

Lin, Benjamin R BR; Frausto, Ricardo F RF; Vo, Rosalind C RC; Chiu, Stephan Y SY; Chen, Judy L JL; Aldave, Anthony J AJ

Publication Date: 2016

Variant appearance in text: TGFBI: H572R

PubMed Link: 27382485

Variant Present in the following documents:

• Main text
• JOPH2016-1968493.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: H572R

PubMed Link: 27030015

Variant Present in the following documents:

• Main text

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Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy.

Molecular Vision

Chen, Judy L JL; Lin, Benjamin R BR; Gee, Katherine M KM; Gee, Jessica A JA; Chung, Duk-Won D DW; Frausto, Ricardo F RF; Deng, Sophie X SX; Aldave, Anthony J AJ

Publication Date: 2015

Variant appearance in text: TGFBI: H572R

PubMed Link: 26788030

Variant Present in the following documents:

• mv-v21-1378.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: H572R

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: H572R

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: H572R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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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: H572R

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: H572R

PubMed Link: 22355247

Variant Present in the following documents:

• Main text
• mv-v18-362.pdf

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Different phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3).

Molecular Vision

Romero, Pablo P; Moraga, Mauricio M; Herrera, Luisa L

Publication Date: 2010-08-13

Variant appearance in text: TGFBI: H572R

PubMed Link: 20806046

Variant Present in the following documents:

• Main text
• mv-v16-1601.pdf

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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: H572R

PubMed Link: 20664689

Variant Present in the following documents:

• Main text

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Novel and known mutations of TGFBI, their genotype-phenotype correlation and structural modeling in 3 Chinese families with lattice corneal dystrophy.

Molecular Vision

Zhong, Xingwu X; Chen, Suqin S; Huang, Weijun W; Yang, Jun J; Chen, Xiaolian X; Zhou, Yan Y; Zhou, Qiang Q; Wang, Yiming Y

Publication Date: 2010-02-15

Variant appearance in text: TGFBI: His572Arg

PubMed Link: 20161820

Variant Present in the following documents:

• Main text

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A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I.

Molecular Vision

Zhang, Chunmei C; Zeng, Guang G; Lin, Hui H; Li, Dandan D; Zhao, Liming L; Zhou, Nan N; Qi, Yanhua Y

Publication Date: 2009-11-28

Variant appearance in text: TGFBI: H572R

PubMed Link: 19956413

Variant Present in the following documents:

• Main text

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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: 1715A>G

PubMed Link: 19337156

Variant Present in the following documents:

• Main text

View BVdb publication page

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Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.

Molecular Vision

Romero, Pablo P; Vogel, Marlene M; Diaz, Jose-Manuel JM; Romero, Maria-Patricia MP; Herrera, Luisa L

Publication Date: 2008-05-07

Variant appearance in text: TGFBI: H572R

PubMed Link: 18470323

Variant Present in the following documents:

• Main text
• mv-v14-829.pdf

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