|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
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 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
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 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An unusually high frequency of the lamellar ichthyosis TGM1 mutation, c.1187G > A, has been observed in the Ecuadorian province of Manabí.
|
31073126 |
2019 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a patient with severe lamellar ichthyosis who was compound heterozygous for TGM1 missense mutations, including a novel one.
|
30302839 |
2018 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
As a proof of principle for application of the compendium for genetic epidemiology, we analyzed the allele frequencies for variants in transglutaminase 1 (TGM1) gene, associated with autosomal recessive lamellar ichthyosis.
|
28638141 |
2017 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.
|
27025581 |
2016 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.
|
26578203 |
2016 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosis.
|
26220141 |
2016 |
|
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 |
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 |
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 |
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 |
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 |
Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene.
|
23192619 |
2013 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Inherited ichthyoses/generalized Mendelian disorders of cornification.
|
22739337 |
2013 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two known pathogenic TGM1 mutations were detected in three large consanguineous Omani families with lamellar ichthyosis.
|
23689228 |
2013 |
|
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 |
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 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the TGM1 gene encoding transglutaminase 1 are a major cause of autosomal recessive congenital ichthyosis.
|
22511925 |
2012 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.
|
23096117 |
2012 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
TGM1 mutations were found in 11/13 (85%) of LI probands.
|
21668430 |
2011 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients.
|
19890349 |
2010 |
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
1.000 |
Biomarker
|
disease |
BEFREE |
Using siRNA knockdown of the principle gene mutated in lamellar ichthyosis (LI), transglutaminase-1, in rat keratinocytes, we created an in vitro organotypic culture model that closely mimics the disease.
|
20385541 |
2010 |