|
Congenital ichthyosis
|
0.600 |
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 |
|
Congenital ichthyosis
|
0.600 |
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 ichthyosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population.
|
31073126 |
2019 |
|
Congenital ichthyosis
|
0.600 |
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 ichthyosis
|
0.600 |
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 ichthyosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Identification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosis.
|
26220141 |
2016 |
|
Congenital ichthyosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.
|
26578203 |
2016 |
|
Congenital ichthyosis
|
0.600 |
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 |
|
Congenital ichthyosis
|
0.600 |
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 ichthyosis
|
0.600 |
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 ichthyosis
|
0.600 |
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 |
|
Congenital ichthyosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the TGM1 gene encoding transglutaminase 1 are a major cause of autosomal recessive congenital ichthyosis.
|
22511925 |
2012 |
|
Congenital ichthyosis
|
0.600 |
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 |
|
Congenital ichthyosis
|
0.600 |
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 |
|
Congenital ichthyosis
|
0.600 |
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 ichthyosis
|
0.600 |
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 |
|
Congenital ichthyosis
|
0.600 |
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 |
|
Congenital ichthyosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families.
|
15665393 |
2004 |
|
Congenital ichthyosis
|
0.600 |
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 ichthyosis
|
0.600 |
Biomarker
|
disease |
MGD |
Neonatal TGase 1(-/-) mouse skin was taut and erythrodermic, but transplanted TGase 1(-/-) mouse skin resembled that seen in severe ichthyosis, with epidermal hyperplasia and marked hyperkeratosis.
|
11805136 |
2002 |
|
Congenital ichthyosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies.
|
10914678 |
2000 |
|
Congenital ichthyosis
|
0.600 |
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 |
|
Congenital ichthyosis
|
0.600 |
Biomarker
|
disease |
MGD |
Thus, these TGase 1 knockout mice may be a useful model for severe cases of LI.
|
9448282 |
1998 |
|
Congenital ichthyosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population.
|
9326318 |
1997 |
|
Congenital ichthyosis
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|