Ichthyoses
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|
Ichthyoses
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Ichthyoses
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The identification of mutations in the transglutaminase-1 gene as a cause of lamellar ichthyosis implicates transglutaminases in other congenital recessive ichthyoses.
|
8941665 |
1996 |
Ichthyoses
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Recent work has shown that a number of diseases which display defective epidermal barrier function, generically known as ichthyoses, are the result of genetic defects of the synthesis of either CE proteins, the transglutaminase 1 cross-linking enzyme, or defective metabolism of skin lipids.
|
10231017 |
1999 |
Ichthyoses
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Clinically typical phenotype of the TGM1 mutation carrier includes large, thick, brownish scales, but ichthyosis of some of these patients tends to be milder.
|
10482949 |
1999 |
Ichthyoses
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies.
|
10914678 |
2000 |
Ichthyoses
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families.
|
15665393 |
2004 |
Ichthyoses
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
These studies extend our prior work on TGM1-deficient LI to the full spectrum of TGM1-deficient patients, showing that the CIE phenotype, when attributable to a V518M heterozygous mutation in TGM1 in combination with an inactive allele, confers a cross-linking deficiency in a variety of keratinizing epithelia, as previously shown for TGM1-negative LI.
|
16133457 |
2005 |
Ichthyoses
|
0.200 |
Biomarker
|
disease |
BEFREE |
Linkage analysis excluded (logarithmic odds [LOD] score -2.0) TGM1 as the cause for ichthyosis phenotype in the analyzed Chianina cases.
|
18165261 |
2008 |
Ichthyoses
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The TGM1 mutation spectrum was characterised and genotype-phenotype correlations investigated in 104 patients with ARCI ascertained through the National Registry for Ichthyosis and Related Disorders in the USA.
|
18948357 |
2009 |
Ichthyoses
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
The TGM1 mutation spectrum was characterised and genotype-phenotype correlations investigated in 104 patients with ARCI ascertained through the National Registry for Ichthyosis and Related Disorders in the USA.
|
18948357 |
2009 |
Ichthyoses
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Combined with data from the literature, these findings confirm the hypothesis that only a restricted spectrum of TGM1 mutations leads to a BSI and/or an SICI phenotype.
|
22801880 |
2012 |
Ichthyoses
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The expression of those antimicrobial and defense response genes was also increased in the lesional skin of an ARCI patient with TGM1 mutations.
|
27442430 |
2016 |
Ichthyoses
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Increased awareness of temperature-sensitive TGM1 genotypes should aid in genetic counseling and provide insights into the pathophysiology of TGM1 ichthyoses, transglutaminase-1 enzymatic activity, and potential therapeutic approaches.
|
28403434 |
2017 |
Ichthyoses
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We attributed TGM1 and ABCA12 mutations to the most severe forms of lamellar and erythematous ichthyoses, respectively, regardless of treatment.
|
30600594 |
2019 |
Ichthyoses
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population.
|
31073126 |
2019 |
Ichthyoses
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Self-improving collodion ichthyosis occurred in 8% of the cases (mostly TGM1 and ALOX12B mutations) but could not be predicted precisely from neonatal phenotype or genotype.
|
31168818 |
2020 |