Publications:

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Release of frustration drives corneal amyloid disaggregation by brain chaperone.

Communications Biology

Low, Jia Yi Kimberly JYK; Shi, Xiangyan X; Anandalakshmi, Venkatraman V; Neo, Dawn D; Peh, Gary Swee Lim GSL; Koh, Siew Kwan SK; Zhou, Lei L; Abdul Rahim, M K MK; Boo, Ketti K; Lee, JiaXuan J; Mohanram, Harini H; Alag, Reema R; Mu, Yuguang Y; Mehta, Jodhbir S JS; Pervushin, Konstantin K

Publication Date: 2023-03-30

Variant appearance in text: TGFBI: R124C

PubMed Link: 36997596

Variant Present in the following documents:

• Main text
• 42003_2023_4725_MOESM1_ESM.pdf
• 42003_2023_Article_4725.pdf

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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: 370C>T; Arg124Cys

PubMed Link: 36902444

Variant Present in the following documents:

• Main text
• ijms-24-05012.pdf

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A case of lattice corneal dystrophy type 1 with bilateral Mooren's ulcer.

American Journal Of Ophthalmology Case Reports

Kayukawa, Kanae K; Kitazawa, Koji K; Wakimasu, Koichi K; Sotozono, Chie C; Kinoshita, Shigeru S

Publication Date: 2023-03

Variant appearance in text: LCD1: R124C

PubMed Link: 36718435

Variant Present in the following documents:

• Main text
• main.pdf

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Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Frontiers In Oncology

Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C

Publication Date: 2022

Variant appearance in text: TGFBI: 370C>T; R124C

PubMed Link: 36387164

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

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Rare eye diseases in India: A concise review of genes and genetics.

Indian Journal Of Ophthalmology

Jeyabalan, Nallathambi N; Ghosh, Anuprita A; Mathias, Grace P GP; Ghosh, Arkasubhra A

Publication Date: 2022-07

Variant appearance in text: TGFBI: Arg124Cys

PubMed Link: 35791102

Variant Present in the following documents:

• Main text
• IJO-70-2232.pdf

View BVdb publication page

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De Novo L509P Mutation of the TGFBI Gene Associated with Slit-Lamp Findings of Lattice Corneal Dystrophy Type IIIA.

Journal Of Clinical Medicine

Ji, Yong Woo YW; Ahn, Hyunmin H; Shin, Kyoung-Jin KJ; Kim, Tae-Im TI; Seo, Kyoung Yul KY; Stulting, R Doyle RD; Kim, Eung Kweon EK

Publication Date: 2022-05-28

Variant appearance in text: TGFBI: R124C

PubMed Link: 35683443

Variant Present in the following documents:

• Main text
• jcm-11-03055.pdf

View BVdb publication page

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Physosmotic Induction of Chondrogenic Maturation Is TGF-β Dependent and Enhanced by Calcineurin Inhibitor FK506.

International Journal Of Molecular Sciences

Jahr, Holger H; van der Windt, Anna E AE; Timur, Ufuk Tan UT; Baart, Esther B EB; Lian, Wei-Shiung WS; Rolauffs, Bernd B; Wang, Feng-Sheng FS; Pufe, Thomas T

Publication Date: 2022-05-04

Variant appearance in text: TGFBI: R124C

PubMed Link: 35563498

Variant Present in the following documents:

• ijms-23-05110.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: Arg124Cys

PubMed Link: 34937214

Variant Present in the following documents:

• IJO-70-85.pdf

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Torin 1 alleviates impairment of TFEB-mediated lysosomal biogenesis and autophagy in TGFBI (p.G623_H626del)-linked Thiel-Behnke corneal dystrophy.

Autophagy

Wang, Liyuan L; Zhao, Chuchu C; Zheng, Tao T; Zhang, Yi Y; Liu, Hanruo H; Wang, Xi X; Tang, Xianling X; Zhao, Baowen B; Liu, Ping P

Publication Date: 2022-04

Variant appearance in text: TGFBI: R124C

PubMed Link: 34403298

Variant Present in the following documents:

• Main text
• KAUP_18_1955469.pdf

View BVdb publication page

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Ocular Involvement in Hereditary Amyloidosis.

Genes

Minnella, Angelo Maria AM; Rissotto, Roberta R; Antoniazzi, Elena E; Di Girolamo, Marco M; Luigetti, Marco M; Maceroni, Martina M; Bacherini, Daniela D; Falsini, Benedetto B; Rizzo, Stanislao S; Obici, Laura L

Publication Date: 2021-06-22

Variant appearance in text: TGFBI: Arg124Cys

PubMed Link: 34206500

Variant Present in the following documents:

• Main text
• genes-12-00955.pdf

View BVdb publication page

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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: R124C

PubMed Link: 34097874

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Diagnosing Paraproteinemic Keratopathy: A Case Report.

Case Reports In Ophthalmology

Mok, Eugenie E; Kam, Ka Wai KW; Aldave, Anthony J AJ; Young, Alvin L AL

Publication Date: 2021

Variant appearance in text: TGFBI: Arg124Cys

PubMed Link: 34054481

Variant Present in the following documents:

• Main text
• cop-0012-0337.pdf

View BVdb publication page

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Evaluation of the Genetic Variation Spectrum Related to Corneal Dystrophy in a Large Cohort.

Frontiers In Cell And Developmental Biology

Li, Wei W; Qu, Ning N; Li, Jian-Kang JK; Li, Yu-Xin YX; Han, Dong-Ming DM; Chen, Yi-Xi YX; Tian, Le L; Shao, Kang K; Yang, Wen W; Wang, Zhuo-Shi ZS; Chen, Xuan X; Jin, Xiao-Ying XY; Wang, Zi-Wei ZW; Liang, Chen C; Qian, Wei-Ping WP; Wang, Lu-Sheng LS; He, Wei W

Publication Date: 2021

Variant appearance in text: TGFBI: 370C>T; Arg124Cys

PubMed Link: 33816482

Variant Present in the following documents:

• Main text
• fcell-09-632946.pdf

View BVdb publication page

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A novel missense TGFBI variant p.(Ser591Phe) in a Finnish family with variant lattice corneal dystrophy.

European Journal Of Ophthalmology

Jaakkola, Aino Maaria AM; Järventausta, Petri J PJ; Järvinen, Reetta-Stiina RS; Repo, Pauliina P; Kivelä, Tero T TT; Turunen, Joni A JA

Publication Date: 2022-07

Variant appearance in text: TGFBI: Arg124Cys

PubMed Link: 33645289

Variant Present in the following documents:

• Main text
• 10.1177_1120672121997305.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: Arg124Cys

PubMed Link: 33513810

Variant Present in the following documents:

• Main text
• ijms-22-01230.pdf

View BVdb publication page

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Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report.

Bmc Medical Genomics

Benbouchta, Yahya Y; Cherkaoui Jaouad, Imane I; Tazi, Habiba H; Elorch, Hamza H; Ouhenach, Mouna M; Zrhidri, Abdelali A; Sadki, Khalid K; Sefiani, Abdelaziz A; Lyahyai, Jaber J; Berraho, Amina A

Publication Date: 2021-01-06

Variant appearance in text: TGFBI: Arg124Cys

PubMed Link: 33407479

Variant Present in the following documents:

• Main text
• 12920_2020_Article_861.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: 370C>T

PubMed Link: 32952948

Variant Present in the following documents:

• Main text
• IJBMS-23-1020.pdf

View BVdb publication page

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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: TGFBI: 370C>T

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

View BVdb publication page

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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: Arg124Cys

PubMed Link: 32637173

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Mutation-Independent Allele-Specific Editing by CRISPR-Cas9, a Novel Approach to Treat Autosomal Dominant Disease.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy

Christie, Kathleen A KA; Robertson, Louise J LJ; Conway, Caroline C; Blighe, Kevin K; DeDionisio, Larry A LA; Chao-Shern, Connie C; Kowalczyk, Amanda M AM; Marshall, John J; Turnbull, Doug D; Nesbit, M Andrew MA; Moore, C B Tara CBT

Publication Date: 2020-08-05

Variant appearance in text: LCD1: R124C

PubMed Link: 32416058

Variant Present in the following documents:

• Main text

View BVdb publication page

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Investigation of TGFBI (transforming growth factor beta-induced) Gene Mutations in Families with Granular Corneal Dystrophy Type 1 in the Konya Region.

Turkish Journal Of Ophthalmology

Malkondu, Fatma F; Arıkoğlu, Hilal H; Erkoç Kaya, Dudu D; Bozkurt, Banu B; Özkan, Fehmi F

Publication Date: 2020-04-29

Variant appearance in text: TGFBI: R124C; rs121909210

PubMed Link: 32366062

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 370C>T; Arg124Cys; rs121909210

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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Allele-specific genome targeting in the development of precision medicine.

Theranostics

Wu, Junjiao J; Tang, Beisha B; Tang, Yu Y

Publication Date: 2020

Variant appearance in text: TGFBI: R124C

PubMed Link: 32194858

Variant Present in the following documents:

• Main text
• thnov10p3118.pdf

View BVdb publication page

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Generation of mouse model of TGFBI-R124C corneal dystrophy using CRISPR/Cas9-mediated homology-directed repair.

Scientific Reports

Kitamoto, Kohdai K; Taketani, Yukako Y; Fujii, Wataru W; Inamochi, Aya A; Toyono, Tetsuya T; Miyai, Takashi T; Yamagami, Satoru S; Kuroda, Masahiko M; Usui, Tomohiko T; Ouchi, Yasuo Y

Publication Date: 2020-02-06

Variant appearance in text: TGFBI: R124C

PubMed Link: 32029872

Variant Present in the following documents:

• Main text
• 41598_2020_Article_58876.pdf
• 41598_2020_58876_MOESM1_ESM.pdf

View BVdb publication page

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Novel Mutations Associated With Various Types of Corneal Dystrophies in a Han Chinese Population.

Frontiers In Genetics

Zhang, Jing J; Wu, Dan D; Li, Yue Y; Fan, Yidan Y; Chen, Huiyu H; Hong, Jiaxu J; Xu, Jianjiang J

Publication Date: 2019

Variant appearance in text: TGFBI: R124C

PubMed Link: 31555324

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multiple phototherapeutic keratectomy treatments in a Chinese pedigree with corneal dystrophy and an R124L mutation: a 20-year observational study.

Bmc Ophthalmology

Zeng, Li L; Zhao, Jing J; Chen, Yingjun Y; Shang, Jianmin J; Aruma, Aruma A; Zhou, Xingtao X

Publication Date: 2019-08-22

Variant appearance in text: TGFBI: R124C

PubMed Link: 31438893

Variant Present in the following documents:

• Main text
• 12886_2019_Article_1167.pdf

View BVdb publication page

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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: R124C

PubMed Link: 31197037

Variant Present in the following documents:

• Main text
• zbc11817.pdf

View BVdb publication page

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Analysis of TGFBI Gene Mutations in Three Chinese Families with Corneal Dystrophy.

Journal Of Ophthalmology

Zhao, Feng F; Liu, Yuan Y; Guan, Tao T

Publication Date: 2019

Variant appearance in text: TGFBI: 370C>T; R124C

PubMed Link: 30805211

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R124C

PubMed Link: 30760895

Variant Present in the following documents:

• Main text

View BVdb publication page

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Generation of TGFBI knockout ABCG2+/ABCB5+ double-positive limbal epithelial stem cells by CRISPR/Cas9-mediated genome editing.

Plos One

Kim, Eung Kweon EK; Kim, Seunghyuk S; Maeng, Yong-Sun YS

Publication Date: 2019

Variant appearance in text: TGFBI: Arg124Cys

PubMed Link: 30753226

Variant Present in the following documents:

• Main text
• pone.0211864.pdf

View BVdb publication page

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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: R124C

PubMed Link: 30214321

Variant Present in the following documents:

• imcrj-11-193.pdf

View BVdb publication page

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Post-LASIK exacerbation of granular corneal dystrophy type 2 in members of a chinese family.

Eye (London, England)

Chao-Shern, C C; Me, R R; DeDionisio, L A LA; Ke, B L BL; Nesbit, M A MA; Marshall, J J; Moore, C B T CBT

Publication Date: 2018-01

Variant appearance in text: LCD1: R124C

PubMed Link: 29192679

Variant Present in the following documents:

• Main text

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: R124C

PubMed Link: 29170458

Variant Present in the following documents:

• Main text
• 41598_2017_Article_16279.pdf
• 41598_2017_16279_MOESM1_ESM.pdf

View BVdb publication page

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Transforming growth factor β induced mutation-associated phenotype in a Chinese family exhibiting lattice corneal dystrophy.

Biomedical Reports

Qu, Chao C; Yu, Man M; Guo, Xiaoxin X; Li, Jing J; Liu, Xiaoqi X; Shi, Yi Y; Gong, Bo B

Publication Date: 2017-10

Variant appearance in text: TGFBI: 370C>T; R124C

PubMed Link: 29085627

Variant Present in the following documents:

• Main text

View BVdb publication page

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ASPsiRNA: A Resource of ASP-siRNAs Having Therapeutic Potential for Human Genetic Disorders and Algorithm for Prediction of Their Inhibitory Efficacy.

G3 (Bethesda, Md.)

Monga, Isha I; Qureshi, Abid A; Thakur, Nishant N; Gupta, Amit Kumar AK; Kumar, Manoj M

Publication Date: 2017-09-07

Variant appearance in text: TGFBI: Arg124Cys

PubMed Link: 28696921

Variant Present in the following documents:

• 2931.pdf

View BVdb publication page

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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: R124C

PubMed Link: 28393022

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R124C

PubMed Link: 28381645

Variant Present in the following documents:

• Main text

View BVdb publication page

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TGFBI Gene Mutation Analysis of Clinically Diagnosed Granular Corneal Dystrophy Patients Prior to PTK: A Pilot Study from Eastern China.

Scientific Reports

Zeng, Li L; Zhao, Jing J; Chen, Yingjun Y; Zhao, Feng F; Li, Meiyan M; Chao-Shern, Connie C; Moore, Tara T; Marshall, John J; Zhou, Xingtao X

Publication Date: 2017-04-04

Variant appearance in text: LCD1: R124C

PubMed Link: 28377594

Variant Present in the following documents:

• 41598_2017_Article_716.pdf

View BVdb publication page

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Genetic analysis of CHST6 and TGFBI in Turkish patients with corneal dystrophies: Five novel variations in CHST6.

Molecular Vision

Yaylacioglu Tuncay, Fulya F; Kayman Kurekci, Gülsüm G; Guntekin Ergun, Sezen S; Pasaoglu, Ozge Tugce OT; Akata, Rustu Fikret RF; Dincer, Pervin Rukiye PR

Publication Date: 2016

Variant appearance in text: LCD1: R124C

PubMed Link: 27829782

Variant Present in the following documents:

• Main text
• mv-v22-1267.pdf

View BVdb publication page

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Characteristics of corneal dystrophies: a review from clinical, histological and genetic perspectives.

International Journal Of Ophthalmology

Lin, Ze-Nan ZN; Chen, Jie J; Cui, Hong-Ping HP

Publication Date: 2016

Variant appearance in text: TGFBI: R124C

PubMed Link: 27366696

Variant Present in the following documents:

• Main text

View BVdb publication page

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