Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population
about
A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndromeTwo new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity.Identification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosisTransglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1Visual detection of single-base mismatches in DNA using hairpin oligonucleotide with double-target DNA binding sequences and gold nanoparticlesA novel mutation in the transglutaminase-1 gene in an autosomal recessive congenital ichthyosis patient.Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2.Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.Development of ichthyosiform skin compensates for defective permeability barrier function in mice lacking transglutaminase 1Updated molecular genetics and pathogenesis of ichthiyoses.The stratum corneum: the rampart of the mammalian body.Epidermal barriersTransglutaminase1 preferred substrate peptide K5 is an efficient tool in diagnosis of lamellar ichthyosis.Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype.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.Expression of transglutaminase activity in developing human epidermis.Transglutaminase-1 mutations in Omani families with lamellar ichthyosisHepoxilin A3 (HXA3) synthase deficiency is causative of a novel ichthyosis form.Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.Transient expression of transglutaminase C during prenatal development of human muscles.Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma.Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effectsUltrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma
P2860
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P2860
Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population
description
1997 nî lūn-bûn
@nan
1997 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Transglutaminase 1 mutations i ...... ions in an isolated population
@ast
Transglutaminase 1 mutations i ...... ions in an isolated population
@en
Transglutaminase 1 mutations i ...... ions in an isolated population
@nl
type
label
Transglutaminase 1 mutations i ...... ions in an isolated population
@ast
Transglutaminase 1 mutations i ...... ions in an isolated population
@en
Transglutaminase 1 mutations i ...... ions in an isolated population
@nl
prefLabel
Transglutaminase 1 mutations i ...... ions in an isolated population
@ast
Transglutaminase 1 mutations i ...... ions in an isolated population
@en
Transglutaminase 1 mutations i ...... ions in an isolated population
@nl
P2093
P2860
P921
P356
P1476
Transglutaminase 1 mutations i ...... ions in an isolated population
@en
P2093
D C Teller
J Ignatius
U Saarialho-Kere
P2860
P304
P356
10.1086/515498
P407
P50
P577
1997-09-01T00:00:00Z