Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1
about
The role of lipoxygenases in pathophysiology; new insights and future perspectivesTherapeutic approaches for celiac diseaseIdentification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosisDistinguishing ichthyoses by protein profilingNovel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.A novel mutation in the transglutaminase-1 gene in an autosomal recessive congenital ichthyosis patient.Type I transglutaminase accumulation in the endoplasmic reticulum may be an underlying cause of autosomal recessive congenital ichthyosis.Multiple local and recent founder effects of TGM1 in Spanish families.Tgm1-like transglutaminases in tilapia (Oreochromis mossambicus)γ-Glutamylamines and neurodegenerative diseasesRole of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene.Regulation of the activities of the mammalian transglutaminase family of enzymes.Comparing histopathology from patients with X-linked recessive ichthyosis and autosomal recessive congenital ichthyosis with transglutaminase 1 mutation: A report from the National Registry for Ichthyosis and Related Skin Disorders.Mutations in TGM1 in Ecuadorians with autosomal recessive congenital ichthyosisSpecific and non-specific protein association in solution: computation of solvent effects and prediction of first-encounter modes for efficient configurational bias Monte Carlo simulations.Malignant skin tumours in patients with inherited ichthyosis.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.Bathing suit ichthyosis caused by a TGM1 mutation in a Tunisian child.A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis.Interplay between transglutaminases and heparan sulphate in progressive renal scarring.Identification of human salivary transglutaminases.Transglutaminase1 preferred substrate peptide K5 is an efficient tool in diagnosis of lamellar ichthyosis.Collodion Baby with TGM1 gene mutation.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.Discovery of potent and specific dihydroisoxazole inhibitors of human transglutaminase 2.Fine mapping of a QTL affecting levels of skatole on pig chromosome 7.Transglutaminase-1 mutations in Omani families with lamellar ichthyosisSocial stigmatization of two sisters with lamella ichthyosis in Ibadan, Nigeria.Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.Profound loss of esophageal tissue differentiation in patients with eosinophilic esophagitis.Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosisAnalysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects
P2860
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P2860
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1
description
2009 nî lūn-bûn
@nan
2009 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Transglutaminase-1 gene mutati ...... novel) and modeling of TGase-1
@ast
Transglutaminase-1 gene mutati ...... novel) and modeling of TGase-1
@en
type
label
Transglutaminase-1 gene mutati ...... novel) and modeling of TGase-1
@ast
Transglutaminase-1 gene mutati ...... novel) and modeling of TGase-1
@en
prefLabel
Transglutaminase-1 gene mutati ...... novel) and modeling of TGase-1
@ast
Transglutaminase-1 gene mutati ...... novel) and modeling of TGase-1
@en
P2093
P2860
P921
P356
P1433
P1476
Transglutaminase-1 gene mutati ...... novel) and modeling of TGase-1
@en
P2093
Jorge R Toro
Matthew L Herman
Ming-Hui Wei
Ousmane Toure
Patrick Blake
Peter J Steinbach
Philip Fleckman
Sharifeh Farasat
Sherri J Bale
P2860
P304
P356
10.1002/HUMU.20952
P577
2009-04-01T00:00:00Z