Publications:

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Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.

International Journal Of Molecular Sciences

Zhu, Di D; Wang, Junwen J; Wang, Yingwei Y; Jiang, Yi Y; Li, Shiqiang S; Xiao, Xueshan X; Wang, Panfeng P; Zhang, Qingjiong Q

Publication Date: 2023-03-06

Variant appearance in text: TGFBI: 1631A>G; Asn544Ser

PubMed Link: 36902444

Variant Present in the following documents:

• Main text
• ijms-24-05012.pdf

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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: N544S

PubMed Link: 34937214

Variant Present in the following documents:

• IJO-70-85.pdf

View BVdb publication page

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Compound heterozygous mutations in TGFBI cause a severe phenotype of granular corneal dystrophy type 2.

Scientific Reports

Jun, Ikhyun I; Ji, Yong Woo YW; Choi, Seung-Il SI; Lee, Bo Ram BR; Min, Ji Sang JS; Kim, Eung Kweon EK

Publication Date: 2021-03-26

Variant appearance in text: TGFBI: Asn544Ser; rs777288957

PubMed Link: 33772078

Variant Present in the following documents:

• Main text
• 41598_2021_Article_86414.pdf

View BVdb publication page

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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: TGFBI: 1631A>G

PubMed Link: 32952948

Variant Present in the following documents:

• IJBMS-23-1020.pdf

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: TGFBI: 1631A>G; rs777288957

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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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: N544S

PubMed Link: 29170458

Variant Present in the following documents:

• 41598_2017_16279_MOESM1_ESM.pdf

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Two mutations in the transforming growth factor beta-induced gene associated with familial Lattice corneal dystrophy.

International Journal Of Ophthalmology

Cao, Wen-Ping WP; Yuan, Hai-Gang HG; Liu, Ping P; Li, Xue X; Hu, Qi Q

Publication Date: 2017

Variant appearance in text: TGFBI: N544S

PubMed Link: 28393022

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: TGFBI: 1631A>G; N544S

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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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: N544S

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: N544S

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: N544S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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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: N544S

PubMed Link: 19461933

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: 1631A>G

PubMed Link: 19337156

Variant Present in the following documents:

• Main text

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An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI.

Molecular Vision

Li, Dandan D; Qi, Yanhua Y; Wang, Li L; Lin, Hui H; Zhou, Nan N; Zhao, Liming L

Publication Date: 2008-07-11

Variant appearance in text: TGFBI: N544S

PubMed Link: 18636123

Variant Present in the following documents:

• mv-v14-1298.pdf

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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: N544S

PubMed Link: 15923518

Variant Present in the following documents:

• Main text

View BVdb publication page

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