Lattice corneal dystrophy Type I
|
|
0.740 |
GeneticVariation
|
UNIPROT |
A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities.
|
9799082 |
1998 |
Lattice corneal dystrophy Type I
|
|
0.740 |
GeneticVariation
|
UNIPROT |
A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I.
|
14597039 |
2003 |
Lattice corneal dystrophy Type I
|
|
0.740 |
GeneticVariation
|
UNIPROT |
A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type I.
|
17013691 |
2006 |
Lattice corneal dystrophy Type I
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Corneal amyloidosis caused by Leu518Pro mutation of betaig-h3 gene.
|
10837380 |
2000 |
Corneal Dystrophy, Lattice Type IIIA
|
|
0.010 |
GeneticVariation
|
BEFREE |
In our study, thirty patients from five pedigrees and ten sporadic patients were diagnosed as four TGFBI gene-linked corneal dystrophies of granular corneal dystrophy type I (GGCD I), Avellino corneal dystrophy (ACD), lattice corneal dystrophy type I (LCD I), and lattice corneal dystrophy type IIIA (LCD IIIA), and in total, seven disease-causing mutations, namely R555W, A546D, A546T, and T538P mutations in exon 12, R124H and R124C mutations in exon 4, and P501T mutation in exon 11, were identified, while four polymorphisms of V327V, L472L, F540F, and 1665-1666insC were screened in exons 8, 11, and 12.
|
21462384 |
2011 |
Lattice corneal dystrophy Type I
|
|
0.740 |
GeneticVariation
|
BEFREE |
In this study, we investigated whether the phenotypic difference observed between two lattice corneal dystrophy type 1 (LCD type 1) cases caused by either a single A546D substitution or an A546D/P551Q double substitution in TGFBIp (transforming growth factor beta induced protein) can be ascribed to (i) a difference in the proteomes of corneal amyloid deposits, (ii) altered proteolysis of TGFBIp, or (iii) structural changes of TGFBIp introduced by the P551Q amino acid substitution.
|
24302499 |
2014 |
Lattice corneal dystrophy Type I
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene.
|
11413411 |
2001 |
Lattice corneal dystrophy Type I
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene.
|
15531312 |
2004 |
Corneal dystrophy, Lattice type 3
|
|
0.040 |
GeneticVariation
|
BEFREE |
No pathogenic mutations, including the Ala546Asp missense mutation previously associated with polymorphic corneal amyloidosis, were identified in any of the patients.
|
16670477 |
2006 |
Amyloid of cornea
|
|
0.040 |
GeneticVariation
|
BEFREE |
No pathogenic mutations, including the Ala546Asp missense mutation previously associated with polymorphic corneal amyloidosis, were identified in any of the patients.
|
16670477 |
2006 |
Lattice corneal dystrophy Type I
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type I.
|
15838722 |
2005 |
Familial Amyloid Polyneuropathy, Type V
|
|
0.040 |
GeneticVariation
|
BEFREE |
Spontaneous mutations were detected in 2 families: an R124C mutation in 1 family with lattice corneal dystrophy (LCD) type I and an A546D mutation in the other with atypical LCD.
|
22355247 |
2012 |
Lattice corneal dystrophy Type I
|
|
0.740 |
GeneticVariation
|
BEFREE |
Spontaneous mutations were detected in 2 families: an R124C mutation in 1 family with lattice corneal dystrophy (LCD) type I and an A546D mutation in the other with atypical LCD.
|
22355247 |
2012 |
Lattice corneal dystrophy Type I
|
|
0.740 |
GeneticVariation
|
UNIPROT |
TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients.
|
15623763 |
2005 |
Corneal dystrophy, Lattice type 3
|
|
0.040 |
GeneticVariation
|
BEFREE |
The lattice phenotype resulting from the TGFBI A546D mutation in this family is distinct from that observed in a previously described pedigree carrying the A546D mutation and exhibiting a phenotype designated "polymorphic corneal amyloidosis".
|
17893671 |
2007 |
Amyloid of cornea
|
|
0.040 |
GeneticVariation
|
BEFREE |
The lattice phenotype resulting from the TGFBI A546D mutation in this family is distinct from that observed in a previously described pedigree carrying the A546D mutation and exhibiting a phenotype designated "polymorphic corneal amyloidosis".
|
17893671 |
2007 |
Familial Amyloid Polyneuropathy, Type V
|
|
0.040 |
GeneticVariation
|
BEFREE |
The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy.
|
17893671 |
2007 |
Familial Amyloid Polyneuropathy, Type V
|
|
0.040 |
GeneticVariation
|
BEFREE |
To report a phenotypic variant pedigree of lattice corneal dystrophy (LCD) associated with two mutations, R124C and A546D, in the transforming growth factor beta-induced gene (TGFBI).
|
28393022 |
2017 |
Lattice corneal dystrophy Type I
|
|
0.740 |
GeneticVariation
|
BEFREE |
Two mutations in the TGFBI gene (A546D and P551Q) cosegregated with LCD in an extensively studied family that lacked the R124C mutation that frequently accompanies this form of corneal amyloidosis.
|
15111592 |
2004 |
Amyloid of cornea
|
|
0.040 |
GeneticVariation
|
BEFREE |
Two mutations in the TGFBI gene (A546D and P551Q) cosegregated with LCD in an extensively studied family that lacked the R124C mutation that frequently accompanies this form of corneal amyloidosis.
|
15111592 |
2004 |
Corneal dystrophy, Lattice type 3
|
|
0.040 |
GeneticVariation
|
BEFREE |
Two mutations in the TGFBI gene (A546D and P551Q) cosegregated with LCD in an extensively studied family that lacked the R124C mutation that frequently accompanies this form of corneal amyloidosis.
|
15111592 |
2004 |
Lattice corneal dystrophy Type I
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene.
|
16541014 |
2006 |
Corneal dystrophy, Lattice type 3
|
|
0.040 |
GeneticVariation
|
BEFREE |
We have designated this entity, which is caused by an A546D mutation in the TGFBI gene, polymorphic corneal amyloidosis.
|
15177960 |
2004 |
Amyloid of cornea
|
|
0.040 |
GeneticVariation
|
BEFREE |
We have designated this entity, which is caused by an A546D mutation in the TGFBI gene, polymorphic corneal amyloidosis.
|
15177960 |
2004 |
Lattice corneal dystrophy Type I
|
|
0.740 |
GeneticVariation
|
BEFREE |
We observed a novel LCD family which carried two pathogenic mutations (R124C and A546D) in the TGFBI gene.
|
28393022 |
2017 |