ライフサイエンスコーパス: lamellar ichthyosis

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1 ive patients with CIE and three with classic lamellar ichthyosis.

2 previously for another "scaffold disorder", lamellar ichthyosis.

3 utaminase 1 enzyme (TGase 1) activity causes lamellar ichthyosis.

4 idered a spectrum of phenotypes with classic lamellar ichthyosis at one pole and classic congenital i

5 tations, deletions, and truncations found in lamellar ichthyosis disease affect the structure and fun

6 from patients with transglutaminase-negative lamellar ichthyosis do not.

7 Genetic heterogeneity in lamellar ichthyosis has been recognized with reports of

8 in the transglutaminase-1 gene as a cause of lamellar ichthyosis implicates transglutaminases in othe

9 the transglutaminase 1 gene are the cause of lamellar ichthyosis in this family, and illustrate an em

10 Lamellar ichthyosis is a congenital recessive skin disor

11 Lamellar ichthyosis is a severe, generalized, autosomal

12 ription in normal epidermis and in a case of lamellar ichthyosis lacking transglutaminase 1 activity.

13 Lamellar ichthyosis (LI) is a disfiguring skin disease c

14 A knockdown of the principle gene mutated in lamellar ichthyosis (LI), transglutaminase-1, in rat ker

15 ongenital ichthyosiform erythroderma, n = 6; lamellar ichthyosis, n = 7; epidermolytic ichthyosis, n

16 Although lamellar ichthyosis patients displayed no TGase1 express

17 Thus the lamellar ichthyosis phenotype in this case is likely att

18 provide insights into the pathophysiology of lamellar ichthyosis resulting from defects of TGase 1 en

19 But in contrast to lamellar ichthyosis, the CE scaffold partially normalize

20 e found to underlie Harlequin ichthyosis and lamellar ichthyosis, two devastating skin disorders.

21 In a cohort of four small families with lamellar ichthyosis we found confirmatory evidence for l

22 hthyosis without internal organ involvement, lamellar ichthyosis, which is characterized by minimal e

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