Condition: Ichthyosis Congenita I


rs1114167424 in SULT2B1 gene and Ichthyosis Congenita I PMID 28575648 2017 Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.

rs1199770893 in TGM1 gene and Ichthyosis Congenita I PMID 18948357 2009 Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 19241467 2009 Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.

PMID 27025581 2016 Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.

PMID 20663883 2010 Type I transglutaminase accumulation in the endoplasmic reticulum may be an underlying cause of autosomal recessive congenital ichthyosis.

PMID 11251583 2001 Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma.

PMID 19890349 2010 Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients.

PMID 9261103 1997 Consequences of seven novel mutations on the expression and structure of keratinocyte transglutaminase.

PMID 9593710 1998 Transglutaminase 1 mutations in lamellar ichthyosis. Loss of activity due to failure of activation by proteolytic processing.

PMID 25154629 2015 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.

PMID 26076875 2015 Prenatal Screening for Bathing-suit Ichthyosis After Diagnosis in an Older Sibling.

PMID 24314425 2013 A novel TGM1 splicing mutation in a collodion baby with cicatricial ectropion.

PMID 7824952 1995 Mutations of keratinocyte transglutaminase in lamellar ichthyosis.

PMID 26220141 2016 Identification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosis.

PMID 7773290 1995 Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis.

PMID 11511296 2001 Novel mutations of the transglutaminase 1 gene in lamellar ichthyosis.

PMID 9326318 1997 Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population.

PMID 9545389 1998 Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis.

PMID 23278109 2013 Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal.

PMID 16968736 2006 Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype.

PMID 22437313 2012 Long-term faithful recapitulation of transglutaminase 1-deficient lamellar ichthyosis in a skin-humanized mouse model, and insights from proteomic studies.

PMID 26762237 2016 Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.

PMID 19156839 2009 Protein sequences encode safeguards against aggregation.

PMID 21668430 2011 Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects.

PMID 19500103 2009 Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation.

PMID 23689228 2013 Transglutaminase-1 mutations in Omani families with lamellar ichthyosis.

PMID 25766764 2015 Mutation study for 9 genes in 23 unrelated patients with autosomal recessive congenital ichthyosis in Japan and Malaysia.

PMID 14996130 2004 A Japanese patient with a mild form of lamellar ichthyosis harbouring two missense mutations in the core domain of the transglutaminase 1 gene.

PMID 12542526 2003 Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation.

PMID 22311480 2012 [Novel compound heterozygous mutations of TGM1 gene identified in a Chinese collodion baby].

PMID 11298529 2001 Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene.

PMID 21895619 2012 Bathing suit ichthyosis with summer exacerbation: a temperature-sensitive case.

PMID 19262603 2009 ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma.

PMID 11407995 2001 Compound heterozygous TGM1 mutations including a novel missense mutation L204Q in a mild form of lamellar ichthyosis.

PMID 24419105 2014 Novel TGM1 missense mutation p.Arg727Gln in a case of self-healing collodion baby.

PMID 28403434 2017 Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.

PMID 26594337 2015 Case Report: Whole exome sequencing helps in accurate molecular diagnosis in siblings with a rare co-occurrence of paternally inherited 22q12 duplication and autosomal recessive non-syndromic ichthyosis.

PMID 12535215 2003 Novel transglutaminase 1 gene mutations (R348X/Y365D) in a Japanese family with lamellar ichthyosis.

PMID 23096117 2012 Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.

PMID 10914678 2000 Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies.

PMID 27442430 2016 Activation of Molecular Signatures for Antimicrobial and Innate Defense Responses in Skin with Transglutaminase 1 Deficiency.

PMID 20522418 2010 Bathing suit ichthyosis.

PMID 19212342 2009 Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions.

PMID 10232404 1999 Identification of mutations in the transglutaminase 1 gene in lamellar ichthyosis.

PMID 19863506 2010 Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis.

PMID 16977323 2007 "The South African ""bathing suit ichthyosis"" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1."

PMID 22801880 2012 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.

PMID 22992804 2013 Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases.

PMID 10886517 2000 Role of Sp1 response element in transcription of the human transglutaminase 1 gene.

PMID 16133457 2005 Structural changes in epidermal scale and appendages as indicators of defective TGM1 activity.

PMID 9457916 1998 Prenatal exclusion of lamellar ichthyosis based on identification of two new mutations in the transglutaminase 1 gene.

PMID 23621129 2013 Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population.

PMID 25998749 2016 Autosomal recessive congenital ichthyoses in the Czech Republic.

PMID 26620441 2016 Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy.

PMID 16908342 2006 Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations.

PMID 23192619 2013 Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene.

PMID 22511925 2012 Multiple local and recent founder effects of TGM1 in Spanish families.

PMID 22258055 2012 Knocking-in the R142C mutation in transglutaminase 1 disrupts the stratum corneum barrier and postnatal survival of mice.

PMID 7581379 1995 Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity.

PMID 23895935 2013 Very mild lamellar ichthyosis with compound heterozygous TGM1 mutations including the novel missense mutation p.Leu693Phe.

PMID 20167857 2010 Transglutaminase1 preferred substrate peptide K5 is an efficient tool in diagnosis of lamellar ichthyosis.

PMID 17635512 2007 Transglutaminase 1 deficiency and corneocyte collapse: an indication for targeted molecular screening in autosomal recessive congenital ichthyosis.

PMID 20137757 2010 Case report: Prolonged collodion membrane causing constrictive bands of the digits and treatment.