Varaico: Literature-Extracted Genetic Variants

Gene:TGFBI
Variant:p.A620D
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TGFBI

NM_000358.3:p.A620D

Associated Papers

Release of frustration drives corneal amyloid disaggregation by brain chaperone.

Low JYK et al.

Communications Biology, 2023

Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.

Zhu D et al.

International Journal of Molecular Sciences, 2023

36902444 (PubMed )
Supplement: ijms-24-05012-s001.zip › ijms-2152855-Supplementary_Table_S2_.xlsx › Sheet1

Confirmation of association of TGFBI p.Ser591Phe mutation with variant lattice corneal dystrophy.

Choo CH et al.

Ophthalmic Genetics, 2022

Genetic screening of TGFBI in Iranian patients with TGFBI-associated corneal dystrophies and a meta-analysis of global variation frequencies.

Jozaei R et al.

Ophthalmic Genetics, 2022

35473478 (PubMed )
Supplement: supplement_1.pdf

Genotypic Homogeneity in Distinctive Transforming Growth Factor-Beta Induced (TGFBI) Protein Phenotypes.

Han SB et al.

International Journal of Molecular Sciences, 2021

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.

Mohammadi A et al.

Iranian Journal of Basic Medical Sciences, 2020

Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Singh R et al.

Plos One, 2020

32492030 (PubMed )
Supplement: pone.0233058.s001.xlsx › RADS8

Evaluation of TGFBI corneal dystrophy and molecular diagnostic testing.

Chao-Shern C et al.

Eye (london, England), 2019

Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies.

Kheir V et al.

Human Mutation, 2019

Effect of position-specific single-point mutations and biophysical characterization of amyloidogenic peptide fragments identified from lattice corneal dystrophy patients.

Anandalakshmi V et al.

The Biochemical Journal, 2017

28381645 (PubMed )
Supplement: BCJ-474-1705-s1.pdf

Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy.

Evans CJ et al.

Investigative Ophthalmology & Visual Science, 2016

Mutational spectrum of Korean patients with corneal dystrophy.

Chae H et al.

Clinical Genetics, 2016

Pathogenesis and treatments of TGFBI corneal dystrophies.

Han KE et al.

Progress in Retinal and Eye Research, 2016

Uncovering the profile of mutations of transforming growth factor beta-induced gene in Chinese corneal dystrophy patients.

Hao XD et al.

International Journal of Ophthalmology, 2016

Biochemical properties and aggregation propensity of transforming growth factor-induced protein (TGFBIp) and the amyloid forming mutants.

Lakshminarayanan R et al.

The Ocular Surface, 2015

Lattice corneal dystrophy type IIIA with hyaline component from a novel A620P mutation and distinct surgical treatments.

Jung JW et al.

Cornea, 2014

Clinical and genetic aspects of the TGFBI-associated corneal dystrophies.

Lakshminarayanan R et al.

The Ocular Surface, 2014

Expression, purification and characterization of fourth FAS1 domain of TGFβIp-associated corneal dystrophic mutants.

Elavazhagan M et al.

Protein Expression and Purification, 2012

A novel mutation in transforming growth factor-beta induced protein (TGFβIp) reveals secondary structure perturbation in lattice corneal dystrophy.

Lakshminarayanan R et al.

The British Journal of Ophthalmology, 2011

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