scholarly journals Transforming growth factor β induced mutation-associated phenotype in a Chinese family exhibiting lattice corneal dystrophy

2017 ◽  
Vol 7 (4) ◽  
pp. 314-318 ◽  
Author(s):  
Chao Qu ◽  
Man Yu ◽  
Xiaoxin Guo ◽  
Jing Li ◽  
Xiaoqi Liu ◽  
...  
Keyword(s):  
Growth Factor ◽  
Transforming Growth Factor ◽  
Transforming Growth Factor Β ◽  
Corneal Dystrophy ◽  
Chinese Family ◽  
Induced Mutation ◽  
Lattice 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

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 beta‐induced p.(L558P) variant is associated with autosomal dominant lattice corneal dystrophy type IV in a large cohort of Spanish patients

2019 ◽  
Vol 47 (7) ◽  
pp. 871-880
Author(s):  
Ezequiel Campos‐Mollo ◽  
Yago Varela‐Conde ◽  
Pedro Arriola‐Villalobos ◽  
Rubén Cabrera‐Beyrouti ◽  
José‐Manuel Benítez‐del‐Castillo ◽  
...  
Keyword(s):  
Growth Factor ◽  
Transforming Growth Factor Beta ◽  
Autosomal Dominant ◽  
Transforming Growth Factor ◽  
Corneal Dystrophy ◽  
Large Cohort ◽  
Lattice Corneal Dystrophy ◽  
Type Iv ◽  
Growth Factor Beta

scholarly journals Arg555Gln Mutation of TGFBI Gene in Geographical-Type Reis—Bücklers Corneal Dystrophy in a Chinese Family

2012 ◽  
Vol 40 (3) ◽  
pp. 1149-1155 ◽  
Author(s):  
Mz Piao ◽  
Xt Zhou ◽  
Lc Wu ◽  
Ry Chu
Keyword(s):  
Transforming Growth Factor ◽  
Family Members ◽  
Transforming Growth Factor Β ◽  
Corneal Dystrophy ◽  
Chinese Family ◽  
Corneal Tissue ◽  
Tgfbi Gene ◽  
Transmission Electron ◽  
Polymerase Chain ◽  
Study Participants

OBJECTIVE: Mutations of the transforming growth factor β-induced ( TGFBI) gene were studied in a Chinese family with Reis—Bücklers corneal dystrophy (RBCD). METHODS: Six family members with RBCD and six unaffected family members were investigated. The pedigree showed a typical dominant inheritance pattern. Genomic DNA was extracted from peripheral leucocytes from all study participants. Exons 4, 12 and 14 of the TGFBI gene were analysed using polymerase chain reaction, and standard automated sequencing was performed. Corneal tissue sampled from the proband during phototherapeutic keratectomy was examined using transmission electron microscopy (TEM). RESULTS: A typical geographical pattern of fine opacities in Bowman's layer of the cornea was seen in all six patients on slit-lamp examination. An Arg555Gln (R555Q) mutation of the TGFBI gene was identified in all six patients but was absent in all unaffected family members. TEM revealed rod-shaped bodies in Bowman's layer of the cornea. CONCLUSIONS: In this Chinese family an R555Q mutation of the TGFBI gene was associated with RBCD. As the RBCD phenotype is usually associated with an R124L mutation, this novel genotype—phenotype correlation may prompt further investigation of Bowman's layer corneal dystrophy.

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