ライフサイエンスコーパス: pachyonychia

1 tudied, two of which had a family history of pachyonychia and 11 of which were sporadic cases.

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

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

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

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

6 Pachyonychia congenita (PC) is a keratinizing disorder p

7 Pachyonychia congenita (PC) is a rare autosomal dominant

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

9 Pachyonychia congenita (PC) is an autosomal dominant gen

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

25 Pachyonychia congenita is caused by mutations in keratin

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

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

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

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

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

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

32 Pachyonychia congenita type 2 is an inherited ectodermal

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

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

35 17 gene (KRT17A) in patients presenting with pachyonychia congenita type 2.

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

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

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

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

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

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

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

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

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

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

46 , hyperpigmentation, psoriasis, skin cancer, pachyonychia congenital) caused by aberrant gene express

47 s characterized by early-onset poikiloderma, pachyonychia, hyperkeratosis, bone anomalies and neutrop