Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: TGFBI: R124S

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

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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: R124S

PubMed Link: 33407479

Variant Present in the following documents:

• 12920_2020_Article_861.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: R124S

PubMed Link: 32952948

Variant Present in the following documents:

• Main text
• IJBMS-23-1020.pdf

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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: Arg124Ser

PubMed Link: 32366062

Variant Present in the following documents:

• Main text
• TJO-50-64.pdf

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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: R124S

PubMed Link: 31438893

Variant Present in the following documents:

• Main text
• 12886_2019_Article_1167.pdf

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Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal Dystrophy.

Journal Of Ophthalmology

Xiang, Qin Q; Yuan, Lamei L; Cao, Yanna Y; Xu, Hongbo H; Li, Yunfeiyang Y; Deng, Hao H

Publication Date: 2019

Variant appearance in text: TGFBI: Arg124Ser

PubMed Link: 30915236

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: R124S

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: R124S

PubMed Link: 29170458

Variant Present in the following documents:

• 41598_2017_16279_MOESM1_ESM.pdf

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: R124S

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Lacritin and other autophagy associated proteins in ocular surface health.

Experimental Eye Research

Karnati, Roy R; Talla, Venu V; Peterson, Katherine K; Laurie, Gordon W GW

Publication Date: 2016-03

Variant appearance in text: TGFBI: R124S

PubMed Link: 26318608

Variant Present in the following documents:

• Main text

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: R124S

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: R124S

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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Benzalkonium chloride accelerates the formation of the amyloid fibrils of corneal dystrophy-associated peptides.

The Journal Of Biological Chemistry

Kato, Yusuke Y; Yagi, Hisashi H; Kaji, Yuichi Y; Oshika, Tetsuro T; Goto, Yuji Y

Publication Date: 2013-08-30

Variant appearance in text: TGFBI: R124S

PubMed Link: 23861389

Variant Present in the following documents:

• Main text

View BVdb publication page

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An Arg124His mutation in TGFBI associated to Avellino corneal dystrophy in a Chinese pedigree.

Molecular Vision

Gu, Zhensheng Z; Zhao, Peiquan P; He, Guang G; Wan, Chunling C; Ma, Gang G; Yu, Ling L; Zhang, Juan J; Feng, Guoyin G; He, Lin L; Gao, Linghan L

Publication Date: 2011

Variant appearance in text: LCD1: Arg124Ser

PubMed Link: 22194646

Variant Present in the following documents:

• Main text
• mv-v17-3200.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: R124S

PubMed Link: 20806046

Variant Present in the following documents:

• Main text
• mv-v16-1601.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: 370C>A

PubMed Link: 19337156

Variant Present in the following documents:

• Main text

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A novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene.

Archives Of Ophthalmology (Chicago, Ill. : 1960)

Aldave, Anthony J AJ; Yellore, Vivek S VS; Sonmez, Baris B; Bourla, Nirit N; Salem, Andrew K AK; Khan, M Ali MA; Rayner, Sylvia A SA; Glasgow, Ben J BJ

Publication Date: 2008-03

Variant appearance in text: TGFBI: Arg124Ser

PubMed Link: 18332318

Variant Present in the following documents:

• Main text

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A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families.

The British Journal Of Ophthalmology

El-Ashry, M F MF; Abd El-Aziz, M M MM; Larkin, D F P DF; Clarke, B B; Cree, I A IA; Hardcastle, A J AJ; Bhattacharya, S S SS; Ebenezer, N D ND

Publication Date: 2003-07

Variant appearance in text: BIGH3: R124S

PubMed Link: 12812879

Variant Present in the following documents:

• Main text

View BVdb publication page

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