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: R124H

PubMed Link: 36997596

Variant Present in the following documents:

• Main text

View BVdb publication page

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Management of Stromal Corneal Dystrophies; Review of the Literature with a Focus on Phototherapeutic Keratectomy and Keratoplasty.

Vision (Basel, Switzerland)

Ashena, Zahra Z; Niestrata, Magdalena M; Tavassoli, Shokufeh S

Publication Date: 2023-03-13

Variant appearance in text: BIGH3: R124H

PubMed Link: 36977302

Variant Present in the following documents:

• vision-07-00022.pdf

View BVdb publication page

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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: 371G>A; Arg124His

PubMed Link: 36902444

Variant Present in the following documents:

• Main text
• ijms-24-05012.pdf

View BVdb publication page

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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: R124H

PubMed Link: 35791102

Variant Present in the following documents:

• Main text
• IJO-70-2232.pdf

View BVdb publication page

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Genomic characterization of lymphomas in patients with inborn errors of immunity.

Blood Advances

Ye, Xiaofei X; Maglione, Paul J PJ; Wehr, Claudia C; Li, Xiaobo X; Wang, Yating Y; Abolhassani, Hassan H; Deripapa, Elena E; Liu, Dongbing D; Borte, Stephan S; Du, Likun L; Wan, Hui H; Plötner, Andreas A; Giannoula, Yvonne Y; Ko, Huai-Bin HB; Hou, Yong Y; Zhu, Shida S; Grossman, Jennifer K JK; Sander, Birgitta B; Grimbacher, Bodo B; Hammarström, Lennart L; Fedorova, Alina A; Rosenzweig, Sergio D SD; Shcherbina, Anna A; Wu, Kui K; Warnatz, Klaus K; Cunningham-Rundles, Charlotte C; Pan-Hammarström, Qiang Q

Publication Date: 2022-09-27

Variant appearance in text: TGFBI: R124H

PubMed Link: 35687490

Variant Present in the following documents:

• advancesADV2021006654-suppl12.xlsx, sheet 1
• advancesADV2021006654-suppl4.xlsx, sheet 11

View BVdb publication page

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CRISPR/Cas therapeutic strategies for autosomal dominant disorders.

The Journal Of Clinical Investigation

Caruso, Salvatore Marco SM; Quinn, Peter Mj PM; da Costa, Bruna Lopes BL; Tsang, Stephen H SH

Publication Date: 2022-05-02

Variant appearance in text: TGFBI: R124H

PubMed Link: 35499084

Variant Present in the following documents:

• jci-132-158287.pdf

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs121909211

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs121909211

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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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: LCD1: Arg124His

PubMed Link: 34937214

Variant Present in the following documents:

• IJO-70-85.pdf

View BVdb publication page

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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: R124H

PubMed Link: 34403298

Variant Present in the following documents:

• Main text
• KAUP_18_1955469.pdf

View BVdb publication page

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Deterioration of Avellino corneal dystrophy in a Chinese family after LASIK.

International Journal Of Ophthalmology

Jiang, Xue X; Zhang, Hong H

Publication Date: 2021

Variant appearance in text: TGFBI: R124H

PubMed Link: 34150532

Variant Present in the following documents:

• Main text

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: R124H

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: Arg124His

PubMed Link: 34054481

Variant Present in the following documents:

• Main text
• cop-0012-0337.pdf

View BVdb publication page

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Prevalence of granular corneal dystrophy type 2-related TGFBI p.R124H variant in a South Korean population.

Molecular Vision

Park, Jong Eun JE; Yun, Sun Ae SA; Roh, Eun Youn EY; Yoon, Jong Hyun JH; Shin, Sue S; Ki, Chang-Seok CS

Publication Date: 2021

Variant appearance in text: TGFBI: R124H

PubMed Link: 34012230

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.

Genes

Kim, Yoon-Jeon YJ; Kim, You-Na YN; Yoon, Young-Hee YH; Seo, Eul-Ju EJ; Seo, Go-Hun GH; Keum, Changwon C; Lee, Beom-Hee BH; Lee, Joo-Yong JY

Publication Date: 2021-04-30

Variant appearance in text: TGFBI: 371G>A; Arg124His

PubMed Link: 33946315

Variant Present in the following documents:

• Main text

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: 371G>A; R124H

PubMed Link: 33816482

Variant Present in the following documents:

• Main text
• fcell-09-632946.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: Arg124His

PubMed Link: 33772078

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exacerbation of Granular Corneal Dystrophy Type 2 After Small Incision Lenticule Extraction.

Cornea

Kwak, Jay Jiyong JJ; Yoon, Sook Hyun SH; Seo, Kyoung Yul KY; Kim, Tae-Im TI; Lee, Hyung Keun HK; Stulting, R Doyle RD; Kim, Eung Kweon EK

Publication Date: 2021-04

Variant appearance in text: TGFBI: Arg124His

PubMed Link: 33560675

Variant Present in the following documents:

• Main text
• cornea-40-519.pdf

View BVdb publication page

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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: Arg124His

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: Arg124His

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 recognition survey of granular corneal dystrophy type 2 genetic detection in China.

International Journal Of Ophthalmology

Wang, Xin-Rui XR; Zhou, Bi-Ting BT; Zheng, Qing-Mei QM; Wang, Ya-Duan YD; Huang, Qiu-Kai QK; Song, Xuan X; Wang, He H; Zhang, Nan-Wen NW; Zhu, Yi-Hua YH; Chen, Xiao-Le XL; Yang, Ju-Hua JH

Publication Date: 2020

Variant appearance in text: TGFBI: R124H

PubMed Link: 33344199

Variant Present in the following documents:

• Main text

View BVdb publication page

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Lacritin proteoforms prevent tear film collapse and maintain epithelial homeostasis.

The Journal Of Biological Chemistry

Georgiev, Georgi A GA; Gh, Mohammad Sharifian MS; Romano, Jeff J; Dias Teixeira, Karina L KL; Struble, Craig C; Ryan, Denise S DS; Sia, Rose K RK; Kitt, Jay P JP; Harris, Joel M JM; Hsu, Ku-Lung KL; Libby, Adam A; Odrich, Marc G MG; Suárez, Tatiana T; McKown, Robert L RL; Laurie, Gordon W GW

Publication Date: 2021

Variant appearance in text: TGFBI: R124H

PubMed Link: 33187980

Variant Present in the following documents:

• Main text
• main.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: 371G>A

PubMed Link: 32952948

Variant Present in the following documents:

• Main text

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: R124H

PubMed Link: 32637173

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Multiple excimer laser phototherapeutic keratectomies for Avellino corneal dystrophy: a case report.

International Journal Of Ophthalmology

Koiwa, Chihiro C; Nakatani, Satoru S; Inomata, Takenori T; Yamaguchi, Masahiro M; Iwamoto, Satoshi S; Murakami, Akira A

Publication Date: 2020

Variant appearance in text: TGFBI: R124H

PubMed Link: 32420235

Variant Present in the following documents:

• Main text

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: TGFBI: R124H

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: R124H

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: 371G>A; Arg124His; rs121909211

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: R124H

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: R124H

PubMed Link: 32029872

Variant Present in the following documents:

• Main text

View BVdb publication page

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Autophagy and Age-Related Eye Diseases.

Biomed Research International

Yang, Xue X; Pan, Xinan X; Zhao, Xiaorui X; Luo, Jin J; Xu, Mingpu M; Bai, Daoming D; Hu, Yan Y; Liu, Xu X; Yu, Qiongfang Q; Gao, Dian D

Publication Date: 2019

Variant appearance in text: TGFBI: R124H

PubMed Link: 31950044

Variant Present in the following documents:

• BMRI2019-5763658.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: R124H

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: R124H

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: R124H

PubMed Link: 31197037

Variant Present in the following documents:

• Main text
• zbc11817.pdf

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: TGFBI: 371G>A; Arg124His

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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: 371G>A; R124H

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: R124H

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: LCD1: Arg124His

PubMed Link: 30753226

Variant Present in the following documents:

• Main text
• pone.0211864.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: TGFBI: R124H; rs121909211

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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TGFBI-associated corneal dystrophy and nephropathy: a novel syndrome?

Cen Case Reports

Nagano, China C; Nozu, Kandai K; Yamamura, Tomohiko T; Minamikawa, Shogo S; Fujimura, Junya J; Sakakibara, Nana N; Nakanishi, Keita K; Horinouchi, Tomoko T; Iwafuchi, Yoichi Y; Kusuhara, Sentaro S; Matsumiya, Wataru W; Yoshikawa, Norishige N; Iijima, Kazumoto K

Publication Date: 2019-02

Variant appearance in text: TGFBI: 371G>A; Arg124His

PubMed Link: 30088155

Variant Present in the following documents:

• Main text

View BVdb publication page

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Repair of the TGFBI gene in human corneal keratocytes derived from a granular corneal dystrophy patient via CRISPR/Cas9-induced homology-directed repair.

Scientific Reports

Taketani, Yukako Y; Kitamoto, Kohdai K; Sakisaka, Toshihiro T; Kimakura, Mikiko M; Toyono, Tetsuya T; Yamagami, Satoru S; Amano, Shiro S; Kuroda, Masahiko M; Moore, Tara T; Usui, Tomohiko T; Ouchi, Yasuo Y

Publication Date: 2017-12-01

Variant appearance in text: TGFBI: R124H

PubMed Link: 29196743

Variant Present in the following documents:

• Main text

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: TGFBI: R124H

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: R124H

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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TGFBI functions similar to periostin but is uniquely dispensable during cardiac injury.

Plos One

Schwanekamp, Jennifer A JA; Lorts, Angela A; Sargent, Michelle A MA; York, Allen J AJ; Grimes, Kelly M KM; Fischesser, Demetria M DM; Gokey, Jason J JJ; Whitsett, Jeffrey A JA; Conway, Simon J SJ; Molkentin, Jeffery D JD

Publication Date: 2017

Variant appearance in text: TGFBI: R124H

PubMed Link: 28750100

Variant Present in the following documents:

• pone.0181945.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: R124H

PubMed Link: 28393022

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: TGFBI: R124H

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: TGFBI: R124H

PubMed Link: 27829782

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Case of Transforming Growth Factor-β-Induced Gene-Related Oculorenal Syndrome: Granular Corneal Dystrophy Type II with a Unique Nephropathy.

Case Reports In Nephrology And Dialysis

Iwafuchi, Yoichi Y; Morioka, Tetsuo T; Oyama, Yuko Y; Nozu, Kandai K; Iijima, Kazumoto K; Narita, Ichiei I

Publication Date: 2016

Variant appearance in text: TGFBI: Arg124His

PubMed Link: 27781206

Variant Present in the following documents:

• Main text
• cnd-0006-0106.pdf

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: 371G>A; R124H

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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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: Arg124His

PubMed Link: 27366696

Variant Present in the following documents:

• Main text

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Effect of Light Scattering and Higher-order Aberrations on Visual Performance in Eyes with Granular Corneal Dystrophy.

Scientific Reports

Kamiya, Kazutaka K; Kobashi, Hidenaga H; Igarashi, Akihito A; Shoji, Nobuyuki N; Shimizu, Kimiya K

Publication Date: 2016-04-18

Variant appearance in text: BIGH3: R124H

PubMed Link: 27086550

Variant Present in the following documents:

• srep24677.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: R124H

PubMed Link: 27030015

Variant Present in the following documents:

• Main text

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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: R124H

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Histone methylation levels correlate with TGFBIp and extracellular matrix gene expression in normal and granular corneal dystrophy type 2 corneal fibroblasts.

Bmc Medical Genomics

Maeng, Yong-Sun YS; Lee, Ga-Hyun GH; Choi, Seung-Il SI; Kim, Kyu Seo KS; Kim, Eung Kweon EK

Publication Date: 2015-11-09

Variant appearance in text: TGFBI: R124H

PubMed Link: 26553048

Variant Present in the following documents:

• Main text

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