|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report a patient with a severe LI phenotype who has a homozygous putative splicing mutation in the TGM1 gene.
|
22435431 |
2012 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.
|
19241467 |
2009 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Haplotype association and mutation analysis of the transglutaminase 1 gene for prenatal exclusion of lamellar ichthyosis.
|
10694685 |
2000 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.
|
18948357 |
2009 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our findings suggest that four novel mutations in TGM1 gene result in decrease or absence of TGase activity in the skin and, as a consequence, cause the phenotype of LI.
|
19486042 |
2009 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Transglutaminase 1 gene mutations in Italian patients with autosomal recessive lamellar ichthyosis.
|
11348475 |
2001 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have now identified point mutations in TGM1 in two of the multiplex LI families used in the linkage study.
|
7773290 |
1995 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
Biomarker
|
disease |
BEFREE |
Transglutaminase 1 (TGM1) has been found as a defective gene in a large fraction of patients with lamellar ichthyosis (LI), a severe inherited scaling disorder of the skin.
|
10482949 |
1999 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene.
|
25808943 |
2015 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The gene for human TGase 1 is responsible for autosomal recessive lamellar ichthyosis, a severe hereditary keratinizing disorder of the skin.
|
8621660 |
1996 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Taken together, our findings expand the known TGM1 mutation repertoire, and provide an insight into the molecular mechanisms leading to ARCI phenotypes.
|
25754682 |
2015 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Structure-function implication on a novel homozygous Trp250/Gly mutation of transglutaminase-1 (TGM1) observed in a patient of autosomal recessive congenital ichthyosis is invoked from a bioinformatics analysis.
|
25180191 |
2014 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
Biomarker
|
disease |
BEFREE |
Recently, strong evidence for the involvement of the transglutaminase 1 gene (TGM1) in LI has evolved.
|
9326318 |
1997 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
To understand better how point mutations, deletions, and truncations found in lamellar ichthyosis disease affect the structure and function of TGase 1, we have expressed in baculovirus and keratinocytes a number of reported TGase 1 mutants.
|
9593710 |
1998 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Unlike LI skin regenerated from keratinocytes, first transduced in vitro with a retroviral expression vector for TGase1 prior to grafting, however, directly injected LI skin displayed a nonuniform TGase1 gene expression pattern.
|
9322868 |
1997 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To identify the genetic mutations underlying LI in a Chinese family with LI, and to review all the known TGM1 mutations in Chinese patients with ARCI.
|
25154629 |
2015 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families.
|
15665393 |
2004 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Defects in cross-linking of loricrin are detected in transglutaminase 1 knockout mice, the animal model of lamellar ichthyosis.
|
10980462 |
2000 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In a cohort of four small families with lamellar ichthyosis we found confirmatory evidence for linkage (p < or = 0.01) to D14S275, a microsatellite marker close to transglutaminase 1 on chromosome 14q11.
|
9457916 |
1998 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
Biomarker
|
disease |
BEFREE |
Additional samples were collected from the forearms of subjects with ichthyosis vulgaris (filaggrin (FLG) deficiency), recessive X-linked ichthyosis (steroid sulfatase (STS) deficiency) and autosomal recessive congenital ichthyosis type lamellar ichthyosis (transglutaminase 1 (TGM1) deficiency).
|
24130705 |
2013 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive lamellar ichthyosis due to transglutaminase-1 (TGase-1) gene mutations leading to a temperature sensitive phenotype.
|
20522418 |
2010 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
Biomarker
|
disease |
BEFREE |
The TGM1 locus was completely linked to LI (Z = 9.11), suggesting that TGM1 is a good candidate for further investigation of this disorder.
|
7977373 |
1994 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, transglutaminase 1 gene mutation is a major cause of congenital ichthyosis in Sweden and Estonia, and is often associated with severe scaling and ultrastructural type II in corneocytes.
|
12636018 |
2003 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Clear genotype-phenotype correlations have been difficult to establish because several of the same TGM1 mutations have been reported in BSI and other forms of congenital ichthyosis.
|
28403434 |
2017 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
Biomarker
|
disease |
BEFREE |
These results give an interpretation at the molecular level of previously reported mutations and lead to further insights into the structural model of TGase 1, providing a new basis for understanding LI.
|
17024410 |
2007 |