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: M619K

PubMed Link: 36997596

Variant Present in the following documents:

• Main text
• 42003_2023_Article_4725.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: M619K

PubMed Link: 32952948

Variant Present in the following documents:

• Main text
• IJBMS-23-1020.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: M619K

PubMed Link: 29170458

Variant Present in the following documents:

• 41598_2017_16279_MOESM1_ESM.pdf

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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: BIGH3: Met619Lys

PubMed Link: 28381645

Variant Present in the following documents:

• Main text
• BCJ-474-1705.pdf

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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: M619K

PubMed Link: 26289666

Variant Present in the following documents:

• gt201582x1.xls, sheet 1

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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: Met619Lys

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: Met619Lys

PubMed Link: 18332318

Variant Present in the following documents:

• Main text

View BVdb publication page

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