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1 utaminase 1 enzyme (TGase 1) activity causes lamellar ichthyosis.
2 ive patients with CIE and three with classic lamellar ichthyosis.
3  previously for another "scaffold disorder", lamellar ichthyosis.
4 order featuring palmoplantar keratoderma and lamellar ichthyosis, a phenotype that has otherwise been
5 ads to defects in epidermal cornification in lamellar ichthyosis and acral peeling skin syndrome, res
6 e, 13 with epidermolytic ichthyosis, 16 with lamellar ichthyosis, and 18 with congenital ichthyosifor
7 idered a spectrum of phenotypes with classic lamellar ichthyosis at one pole and classic congenital i
8 tations, deletions, and truncations found in lamellar ichthyosis disease affect the structure and fun
9 from patients with transglutaminase-negative lamellar ichthyosis do not.
10                     Genetic heterogeneity in lamellar ichthyosis has been recognized with reports of
11 in the transglutaminase-1 gene as a cause of lamellar ichthyosis implicates transglutaminases in othe
12 the transglutaminase 1 gene are the cause of lamellar ichthyosis in this family, and illustrate an em
13                                              Lamellar ichthyosis is a congenital recessive skin disor
14                                              Lamellar ichthyosis is a severe, generalized, autosomal
15 ription in normal epidermis and in a case of lamellar ichthyosis lacking transglutaminase 1 activity.
16                                              Lamellar ichthyosis (LI) is a disfiguring skin disease c
17 A knockdown of the principle gene mutated in lamellar ichthyosis (LI), transglutaminase-1, in rat ker
18 ongenital ichthyosiform erythroderma, n = 6; lamellar ichthyosis, n = 7; epidermolytic ichthyosis, n
19 ongenital ichthyosiform erythroderma, n = 9; lamellar ichthyosis, n = 8; epidermolytic ichthyosis, n
20                                     Although lamellar ichthyosis patients displayed no TGase1 express
21                                     Thus the lamellar ichthyosis phenotype in this case is likely att
22 provide insights into the pathophysiology of lamellar ichthyosis resulting from defects of TGase 1 en
23                           But in contrast to lamellar ichthyosis, the CE scaffold partially normalize
24 e found to underlie Harlequin ichthyosis and lamellar ichthyosis, two devastating skin disorders.
25      In a cohort of four small families with lamellar ichthyosis we found confirmatory evidence for l
26 hthyosis without internal organ involvement, lamellar ichthyosis, which is characterized by minimal e