ライフサイエンスコーパス: pachyonychia congenita

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1 ratoderma (PPK) severely impairs mobility in pachyonychia congenita.

2 e as therapeutic agents for the treatment of pachyonychia congenita.

3 ic siRNAs for epidermolysis bullosa simplex, pachyonychia congenita and Messmann epithelial corneal d

4 atin 16 (Krt16), one of the genes mutated in pachyonychia congenita, develop pachyonychia congenita-l

5 expression of the two other genes mutated in pachyonychia congenita diseases, K6 and K16, with that o

6 ndages and directly support the concept that pachyonychia congenita is a disease of the nail bed.

7 Pachyonychia congenita is caused by mutations in keratin

8 s mutated in pachyonychia congenita, develop pachyonychia congenita-like PPK.

9 ited mutations in this gene can cause either pachyonychia congenita or steatocystoma multiplex, the f

10 RT6 family, such as in KRT6A and KRT6B cause pachyonychia congenita (PC) -1 and -2, respectively.

11 ating lesions that arise in individuals with pachyonychia congenita (PC) and feature upregulation of

12 Palmoplantar keratoderma is a hallmark of pachyonychia congenita (PC) and focal non-epidermolytic

13 Pachyonychia congenita (PC) is a group of autosomal domi

14 Pachyonychia congenita (PC) is a keratinizing disorder p

15 Pachyonychia congenita (PC) is a rare autosomal dominant

16 Pachyonychia congenita (PC) is a rare, autosomal dominan

17 Pachyonychia congenita (PC) is an autosomal dominant gen

18 Pachyonychia congenita (PC) is an autosomal-dominant ker

19 of small interfering RNA (siRNA; TD101) into pachyonychia congenita (PC) patient foot lesions resulte

20 D101) that targets the causative mutation in pachyonychia congenita (PC) patients.

21 ning overlapping phenotypes between FPPK and pachyonychia congenita (PC) will continue because only o

22 A notable exception is pachyonychia congenita (PC), a disorder in which the nai

23 rtner type II keratin 6 (Krt6a, Krt6b) cause pachyonychia congenita (PC), a disorder typified by dyst

24 altering the coding sequence of KRT16 cause pachyonychia congenita (PC), a rare autosomal dominant d

25 sorders apparented to ectodermal dysplasias, pachyonychia congenita (PC), and steatocystoma multiplex

26 genes, KRT6A, KRT6B, KRT16, or KRT17, cause pachyonychia congenita (PC), characterized by hypertroph

27 onsible for the rare monogenic skin disorder pachyonychia congenita (PC), we demonstrate that small i

28 b clinical trial for the rare skin disorder, pachyonychia congenita (PC).

29 arly childhood often suggests a diagnosis of pachyonychia congenita (PC).

30 otype in the type 2 (Jackson-Lawler) form of pachyonychia congenita, previously shown to arise from i

31 etically confirmed PC from the International Pachyonychia Congenita Research Registry who completed a

32 Given that all forms of pachyonychia congenita show an involvement of the nail,

33 feature of dermatoses such as psoriasis and pachyonychia congenita, the currently unclear regulation

34 usions: (i) K6a or K16 mutations produce the pachyonychia congenita type 1 phenotype, whereas K17 (or

35 Pachyonychia congenita type 2 (PC-2), also known as Jack

36 Epithelial tissues affected in pachyonychia congenita type 2 express the keratin pair K

37 Pachyonychia congenita type 2 is an inherited ectodermal

38 although their absence does not preclude the pachyonychia congenita type 2 phenotype.

39 ysts; and (iv) natal teeth are indicative of pachyonychia congenita type 2, although their absence do

40 17 gene (KRT17A) in patients presenting with pachyonychia congenita type 2.

41 notype, whereas K17 (or K6b) mutations cause pachyonychia congenita type 2; (ii) the presence of pilo

42 s following puberty is the best indicator of pachyonychia congenita type 2; (iii) prepubescent patien

43 Thirteen patients with pachyonychia congenita types 1 and 2 were studied, two o

44 y establishes useful diagnostic criteria for pachyonychia congenita types 1 and 2, which will help li

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