ライフサイエンスコーパス: Netherton

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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 severe genetic skin disease

5 Netherton syndrome has been proposed to be a primary imm

6 Netherton syndrome is a severe autosomal recessive skin

7 Netherton syndrome is an autosomal recessive multisystem

8 Netherton syndrome is characterized by neonatal scaling

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

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

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

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

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

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

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

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

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

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

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

20 The Comel-Netherton syndrome is an autosomal recessive multisystem

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

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

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

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

25 5 protein (LEKTI), as the defective gene in Netherton syndrome.

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

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

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

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

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

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

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