scholarly journals pH Induced Conformational Transitions in the Transforming Growth Factor β-Induced Protein (TGFβIp) Associated Corneal Dystrophy Mutants

2016 ◽  
Vol 6 (1) ◽  
Author(s):  
Elavazhagan Murugan ◽  
Anandalakshmi Venkatraman ◽  
Zhou Lei ◽  
Victoria Mouvet ◽  
Rayne Rui Yi Lim ◽  
...  
Keyword(s):  
Growth Factor ◽  
Transforming Growth Factor ◽  
Transforming Growth Factor Β ◽  
Corneal Dystrophy ◽  
Conformational Transitions

scholarly journals Mutation-induced dimerization of transforming growth factor-β-induced protein (TGFBIp) may drive protein aggregation in granular corneal dystrophy

2021 ◽  
pp. 100858
Author(s):  
Nadia Sukusu Nielsen ◽  
Trine A.F. Gadeberg ◽  
Ebbe Toftgaard Poulsen ◽  
Seandean Lykke Harwood ◽  
Christian E. Weberskov ◽  
...  
Keyword(s):  
Growth Factor ◽  
Protein Aggregation ◽  
Transforming Growth Factor ◽  
Transforming Growth Factor Β ◽  
Corneal Dystrophy ◽  
Granular Corneal Dystrophy

scholarly journals Impaired autophagy and delayed autophagic clearance of transforming growth factor β-induced protein (TGFBI) in granular corneal dystrophy type 2

Autophagy ◽  
2012 ◽  
Vol 8 (12) ◽  
pp. 1782-1797 ◽  
Author(s):  
Seung-Il Choi ◽  
Bong-Yoon Kim ◽  
Shorafidinkhuja Dadakhujaev ◽  
Jun-Young Oh ◽  
Tae-Im Kim ◽  
...  
Keyword(s):  
Growth Factor ◽  
Transforming Growth Factor ◽  
Transforming Growth Factor Β ◽  
Corneal Dystrophy ◽  
Granular Corneal Dystrophy

Transforming Growth Factor-β Induced Protein, βIG-H3, is Present in Degraded Form and Altered Localization in Lattice Corneal Dystrophy Type I

1998 ◽  
Vol 66 (6) ◽  
pp. 739-745 ◽  
Author(s):  
LILI TAKÁCS ◽  
PÉTER BOROSS ◽  
JÓZSEF TÖZSÉR ◽  
LÁSZLÓ MÓDIS JR ◽  
GÁBOR TÓTH ◽  
...  
Keyword(s):  
Growth Factor ◽  
Transforming Growth Factor ◽  
Transforming Growth Factor Β ◽  
Corneal Dystrophy ◽  
Type I ◽  
Lattice Corneal Dystrophy

A Novel H572R Mutation in the Transforming Growth Factor-β-Induced Gene in a Thai Family with Lattice Corneal Dystrophy Type I

2006 ◽  
Vol 50 (5) ◽  
pp. 403-408 ◽  
Author(s):  
La-ongsri Atchaneeyasakul ◽  
◽  
Binoy Appukuttan ◽  
Sarinee Pingsuthiwong ◽  
Pa-thai Yenchitsomanus ◽  
...  
Keyword(s):  
Growth Factor ◽  
Transforming Growth Factor ◽  
Transforming Growth Factor Β ◽  
Corneal Dystrophy ◽  
Type I ◽  
Lattice Corneal Dystrophy

Mutation-Induced Deamidation of Corneal Dystrophy-Related Transforming Growth Factor β-Induced Protein

Biochemistry ◽  
2017 ◽  
Vol 56 (49) ◽  
pp. 6470-6480 ◽  
Author(s):  
Nadia Sukusu Nielsen ◽  
Dennis Wilkens Juhl ◽  
Ebbe Toftgaard Poulsen ◽  
Marie V. Lukassen ◽  
Emil Christian Poulsen ◽  
...  
Keyword(s):  
Growth Factor ◽  
Transforming Growth Factor ◽  
Transforming Growth Factor Β ◽  
Corneal Dystrophy

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

2016 ◽  
Vol 6 (3) ◽  
pp. 106-113 ◽  
Author(s):  
Yoichi Iwafuchi ◽  
Tetsuo Morioka ◽  
Yuko Oyama ◽  
Kandai Nozu ◽  
Kazumoto Iijima ◽  
...  
Keyword(s):  
Growth Factor ◽  
Basement Membrane ◽  
Transforming Growth Factor ◽  
Kidney Diseases ◽  
Renal Involvement ◽  
Transforming Growth Factor Β ◽  
Corneal Dystrophy ◽  
Renal Diseases ◽  
Type Ii ◽  
Granular Corneal Dystrophy

Many types of inherited renal diseases have ocular features that occasionally support a diagnosis. The following study describes an unusual example of a 40-year-old woman with granular corneal dystrophy type II complicated by renal involvement. These two conditions may coincidentally coexist; however, there are some reports that demonstrate an association between renal involvement and granular corneal dystrophy type II. Granular corneal dystrophy type II is caused by a mutation in the transforming growth factor-β-induced (TGFBI) gene. The patient was referred to us because of the presence of mild proteinuria without hematuria that was subsequently suggested to be granular corneal dystrophy type II. A kidney biopsy revealed various glomerular and tubular basement membrane changes and widening of the subendothelial space of the glomerular basement membrane by electron microscopy. However, next-generation sequencing revealed that she had no mutation in a gene that is known to be associated with monogenic kidney diseases. Conversely, real-time polymerase chain reaction, using a simple buccal swab, revealed TGFBI heteromutation (R124H). The TGFBI protein plays an important role in cell-collagen signaling interactions, including extracellular matrix proteins which compose the renal basement membrane. This mutation can present not only as corneal dystrophy but also as renal disease. TGFBI-related oculorenal syndrome may have been unrecognized. It is difficult to diagnose this condition without renal electron microscopic studies. To the best of our knowledge, this is the first detailed report of nephropathy associated with a TGFBI mutation.

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