ライフサイエンスコーパス: Netherton

1 Netherton disease is a rare recessive skin disorder in w

2 Netherton syndrome (NS) is a human autosomal recessive s

3 Netherton syndrome (NS) is a rare and severe genodermato

4 Netherton syndrome (NS) is a rare recessive skin disorde

5 Netherton syndrome (NS) is a severe genetic skin disease

6 Netherton syndrome has been proposed to be a primary imm

7 Netherton syndrome is a severe autosomal recessive skin

8 Netherton syndrome is an autosomal recessive multisystem

9 Netherton syndrome is characterized by neonatal scaling

10 Netherton syndrome, peeling skin syndrome type B, and sk

11 In keratinocytes from a Netherton syndrome patient, lead 7 significantly reduced

12 n = 7; epidermolytic ichthyosis, n = 5; and Netherton syndrome, n = 3) using immunohistochemistry an

13 n = 8; epidermolytic ichthyosis, n = 8; and Netherton syndrome, n = 4), as well as age-matched healt

14 rmatoses, autoimmune blistering disease, and Netherton syndrome.

15 ermatitis, epidermolytic hyperkeratosis, and Netherton's syndrome.

16 in trichothiodystrophy, Bazex syndrome, and Netherton's syndrome are also discussed.

17 en linked to the inherited disorder known as Netherton syndrome.

18 tive way to treat some skin diseases such as Netherton syndrome.

19 Comel-Netherton syndrome (NS) is a rare autosomal disease, cha

20 of which were novel, segregating in 14 Comel-Netherton syndrome families.

21 thus confirming genetic homogeneity of Comel-Netherton syndrome across families of different origins.

22 s in SPINK5 were identified in several Comel-Netherton syndrome patients from consanguineous families

23 tudy the clinical presentations of the Comel-Netherton syndrome and its molecular cause, we ascertain

24 of initial linkage studies mapped the Comel-Netherton syndrome in 12 multiplex families to a 12 cM i

25 The Comel-Netherton syndrome is an autosomal recessive multisystem

26 The Comel-Netherton syndrome region harbors the SPINK5 gene, which

27 sibility of molecular diagnosis in the Comel-Netherton syndrome.

28 omal recessive ichthyosiform skin condition, Netherton syndrome (NS).

29 molytic hyperkeratosis, X-linked ichthyosis, Netherton syndrome, and Hermansky-Pudlak syndrome are re

30 This is best exemplified in Netherton syndrome, a severe genetic skin condition caus

31 5 protein (LEKTI), as the defective gene in Netherton syndrome.

32 display normal CLEs; (ii) CLEs are normal in Netherton syndrome, despite destruction of secreted LB c

33 modest changes in Th2 pathway, primarily in Netherton syndrome, and Th1 skewing in congenital ichthy

34 ties of KLK5, KLK7, and KLK14 and results in Netherton syndrome (NS), a debilitating condition with a

35 n the epidermis that play a critical role in Netherton syndrome (NS), a rare yet life-threatening gen

36 t the membrane protease matriptase initiates Netherton syndrome in a LEKTI-deficient mouse model by p

37 inhibitor LEKTI is the etiological origin of Netherton syndrome, which causes detachment of the strat

38 uding atopic dermatitis, bullous pemphigoid, Netherton's syndrome, and prurigo nodularis.

39 lar to that observed in patients with severe Netherton syndrome.

40 The gene underlying Netherton disease (SPINK5) encodes a 15-domain serine pr

41 lysis in 54 patients with ichthyosis (7 with Netherton syndrome, 13 with epidermolytic ichthyosis, 16

42 rotease inhibitor LEKTI, in 13 families with Netherton syndrome (NS, MIM256500).

43 ncreased in stratum corneum of patients with Netherton syndrome and significantly inhibited by GSK951

44 in a severity-related manner, patients with Netherton syndrome showed the greatest T-cell activation

45 high therapeutic potential for patients with Netherton syndrome.

46 ichthyosis were increased only in those with Netherton syndrome but were much lower than in patients