|
Ichthyosiform Erythroderma, Congenital
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Defects in keratinocyte transglutaminase (TGM1), resulting in an improper protein scaffold for deposition of the lipid barrier, comprise a major source of autosomal recessive congenital ichthyosis.
|
30916809 |
2019 |
|
Ichthyosiform Erythroderma, Congenital
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Patients with congenital ichthyosis and TGM1 mutations overexpress other ARCI genes in the skin: Part of a barrier repair response?
|
30372788 |
2019 |
|
Ichthyosiform Erythroderma, Congenital
|
0.200 |
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 |
|
Ichthyosiform Erythroderma, Congenital
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.
|
26578203 |
2016 |
|
Ichthyosiform Erythroderma, Congenital
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Identification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosis.
|
26220141 |
2016 |
|
Ichthyosiform Erythroderma, Congenital
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations of transglutaminase-1 in Chinese patients with autosomal recessive congenital ichthyosis: a case report with clinical and genetic analysis of Chinese cases reported in literature.
|
25154629 |
2015 |
|
Ichthyosiform Erythroderma, Congenital
|
0.200 |
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 |
|
Ichthyosiform Erythroderma, Congenital
|
0.200 |
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 |
|
Ichthyosiform Erythroderma, Congenital
|
0.200 |
GeneticVariation
|
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 |
|
Ichthyosiform Erythroderma, Congenital
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Specific TGM1 mutation profiles in bathing suit and self-improving collodion ichthyoses: phenotypic and genotypic data from 9 patients with dynamic phenotypes of autosomal recessive congenital ichthyosis.
|
22801880 |
2012 |
|
Ichthyosiform Erythroderma, Congenital
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the TGM1 gene encoding transglutaminase 1 are a major cause of autosomal recessive congenital ichthyosis.
|
22511925 |
2012 |
|
Ichthyosiform Erythroderma, Congenital
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Lamellar Ichthyosis (LI) is a form of congenital ichthyosis that is caused by mutations in the TGM1 gene that encodes for the transglutaminase 1 (TG1) enzyme.
|
23096117 |
2012 |
|
Ichthyosiform Erythroderma, Congenital
|
0.200 |
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 |
|
Ichthyosiform Erythroderma, Congenital
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.
|
18948357 |
2009 |
|
Ichthyosiform Erythroderma, Congenital
|
0.200 |
Biomarker
|
disease |
BEFREE |
To this end, epidermal scale or callus, nail and hair samples from a patient with TGM1-deficient CIE, his asymptomatic family members and control subjects were extracted vigorously in sodium dodecyl sulfate and dithiothreitol and examined by light (phase contrast) and electron microscopy.
|
16133457 |
2005 |
|
Ichthyosiform Erythroderma, Congenital
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families.
|
15665393 |
2004 |
|
Ichthyosiform Erythroderma, Congenital
|
0.200 |
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 |
|
Ichthyosiform Erythroderma, Congenital
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma.
|
12823447 |
2003 |
|
Ichthyosiform Erythroderma, Congenital
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway.
|
9887377 |
1999 |
|
Ichthyosiform Erythroderma, Congenital
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis.
|
10482949 |
1999 |
|
Ichthyosiform Erythroderma, Congenital
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population.
|
9326318 |
1997 |
|
Ichthyosiform Erythroderma, Congenital
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|