Publications:

---

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: 1612A>C

PubMed Link: 32952948

Variant Present in the following documents:

• Main text
• IJBMS-23-1020.pdf

View BVdb publication page

---

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: T538P

PubMed Link: 29170458

Variant Present in the following documents:

• 41598_2017_16279_MOESM1_ESM.pdf

View BVdb publication page

---

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: Thr538Pro

PubMed Link: 27829782

Variant Present in the following documents:

• mv-v22-1267.pdf

View BVdb publication page

---

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: T538P

PubMed Link: 26289666

Variant Present in the following documents:

• gt201582x1.xls, sheet 1

View BVdb publication page

---

Investigation of the influence of Arg555Trp and Thr538Pro TGFBI mutations on C-terminal cleavage and cell endoplasmic reticulum stress.

Molecular Vision

Zhu, Miaomiao M; Yu, Ping P; Jiang, Bo B; Gu, Yangshun Y

Publication Date: 2012

Variant appearance in text: TGFBI: Thr538Pro

PubMed Link: 22605926

Variant Present in the following documents:

• Main text
• mv-v18-1156.pdf

View BVdb publication page

---

Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy.

Journal Of Zhejiang University. Science. B

Long, Yan Y; Gu, Yang-Shun YS; Han, Wei W; Li, Xiu-Yi XY; Yu, Ping P; Qi, Ming M

Publication Date: 2011-04

Variant appearance in text: TGFBI: Thr538Pro

PubMed Link: 21462384

Variant Present in the following documents:

• Main text

View BVdb publication page

---

TGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies.

Molecular Vision

Paliwal, Preeti P; Sharma, Arundhati A; Tandon, Radhika R; Sharma, Namrata N; Titiyal, Jeewan S JS; Sen, Seema S; Kaur, Punit P; Dube, Divya D; Vajpayee, Rasik B RB

Publication Date: 2010-07-29

Variant appearance in text: TGFBI: 1612A>C

PubMed Link: 20680100

Variant Present in the following documents:

• Main text
• mv-v16-1429.pdf

View BVdb publication page

---

Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature.

Molecular Vision

Yang, Juhua J; Han, Xiaoli X; Huang, Dinggou D; Yu, Lin L; Zhu, Yihua Y; Tong, Yi Y; Zhu, Binliang B; Li, Chuanbao C; Weng, Mingshe M; Ma, Xu X

Publication Date: 2010-06-30

Variant appearance in text: LCD1: T538P

PubMed Link: 20664689

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 1612A>C

PubMed Link: 19337156

Variant Present in the following documents:

• Main text

View BVdb publication page

---