ライフサイエンスコーパス: Waardenburg

1 Waardenburg syndrome (WS) is a clinically and geneticall

2 Waardenburg syndrome (WS) is a hereditary disorder that

3 Waardenburg syndrome manifests hypopigmentation of the i

4 Waardenburg syndrome type 1 is caused by mutations in PA

5 Waardenburg syndrome type 2 (WS2) is a dominantly inheri

6 Waardenburg syndrome typically manifests with congenital

7 Waardenburg syndromes are characterized by pigmentation

8 Waardenburg-Shah syndrome combines the reduced enteric n

9 ges in the PAX3 gene in patients with type 1 Waardenburg syndrome (WS1) including three in the paired

10 e classified as Waardenburg syndrome type 4 (Waardenburg-Shah, WS4).

11 such as in neural crest-derived cancers and Waardenburg syndrome types 1 and 3.

12 Hirschsprung disease and Waardenburg syndrome are human genetic diseases characte

13 ons responsible for Hirschsprung disease and Waardenburg syndrome have been identified, and some pati

14 of a subset of HSCR patients categorized as Waardenburg-Shah syndrome (WS4, OMIM 277580).

15 tion with hypopigmentation are classified as Waardenburg syndrome type 4 (Waardenburg-Shah, WS4).

16 r, like MITF, results in a disorder known as Waardenburg Syndrome.

17 Waardenburg syndrome, Type IV, also known as Waardenburg-Hirschsprung disease, characterized by pigme

18 PCWH or a more restricted phenotype known as Waardenburg-Shah syndrome (WS4; OMIM 277580).

19 ultiple phenotypic disease) deafness such as Waardenburg syndrome and Usher 1B syndrome, little is kn

20 in neural crest disorders in humans such as Waardenburg syndrome.

21 (microphthalmia transcription factor) cause Waardenburg syndrome type 2 (WS2A) in humans, an autosom

22 In humans, mutations in the PAX3 gene cause Waardenburg syndrome, whereas a chromosomal translocatio

23 Mutations in PAX3 cause Waardenburg syndrome (types 1 and 3), Craniofacial-deafn

24 Rare variants in PAX3 are known to cause Waardenburg syndrome, which involves deafness, pigmentar

25 factor for which deficiency in humans causes Waardenburg syndrome II.

26 In people, PAX3 mutation causes Waardenburg syndrome, and murine Pax3 is essential for p

27 to the molecular mechanisms by which certain Waardenburg syndrome-associated missense mutations could

28 the human melanocyte and deafness condition Waardenburg syndrome is sometimes caused by haploinsuffi

29 The deafness-pigmentary disorder Waardenburg Syndrome Type 2 is caused by mutations in th

30 for the human auditory-pigmentation disorder Waardenburg syndrome.

31 genes have been identified as causative for Waardenburg syndrome; however, the genetic bases for all

32 erived melanocyte deficiencies (Hirschsprung-Waardenburg, HSCR-WS, MIM #277580).

33 iency results in the mouse splotch and human Waardenburg syndrome (WSI and WSIII) phenotypes.

34 of the transcriptional pathways affected in Waardenburg syndromes.

35 port syndrome and the PAX3 and MITF genes in Waardenburg syndrome.

36 nstrate that PAX3, which is often mutated in Waardenburg syndrome, is required for normal enteric gan

37 e that the dominant melanophore phenotype in Waardenburg syndrome IV individuals with SOX10 mutations

38 Mutations in SOX10 result in Waardenburg syndrome type 4.

39 tion of c-RET, and SOX10 mutations result in Waardenburg-Hirschsprung syndrome.

40 e forelock phenotype similar to that seen in Waardenburg syndrome.

41 function underlies many disorders including Waardenburg syndrome and melanoma.

42 al neural crest-related disorders, including Waardenburg and other syndromes.

43 One example is Waardenburg syndrome that can be caused by mutations in

44 s angiogenesis, and that SEC23IP is a likely Waardenburg gene.

45 However, neither Waardenburg-Hirschsprung syndrome patients nor Dominant

46 ns a model for two human neurocristopathies, Waardenburg-Shah syndrome and Hirschsprung's disease.

47 X10 is mutated in the human neurocristopathy Waardenburg-Shah syndrome (WS4), which is characterized

48 gests a novel mechanism for the aetiology of Waardenburg-Shah syndrome in which affected neural crest

49 Because mutations in MITF are causative of Waardenburg syndrome type 2 (WS2), we screened KITLG in

50 sociated with the pigmentary deficiencies of Waardenburg syndrome (WS) and is modeled in Sox10 haploi

51 In all patients, the diagnosis of Waardenburg syndrome was established.

52 horum, one of the key diagnostic features of Waardenburg syndrome type 1 (WS1).

53 utations in SOX10 result in a severe form of Waardenburg syndrome, Type IV, also known as Waardenburg

54 Family history of Waardenburg syndrome was elicited in 5 of 7 (71%) patien

55 to the understanding of the pathogenesis of Waardenburg syndrome.

56 A unique phenotype of Waardenburg-Hirschsprung disease (WS4) accompanied by pe

57 or the diagnosis of the associated syndrome (Waardenburg (SOX10 and MITF), Kallmann (CHD7 and SOX10),

58 the occurrence of neurocristopathies in the Waardenburg-Shah syndrome type IV (WS-IV), for which the

59 o predict clinically relevant aspects of the Waardenburg phenotype.

60 ot-Marie-Tooth disease type 1 in addition to Waardenburg-Hirschsprung syndrome.

61 gastrointestinal motility disorders, whereas Waardenburg syndrome consists of defective melanocyte fu

62 nd differentiation are often associated with Waardenburg and related disorders.

63 Mutations in PAX3 are associated with Waardenburg syndrome (WS), but the mechanism of how muta

64 for the neural crest defects associated with Waardenburg syndrome, among others.

65 , mutations in this gene are associated with Waardenburg-Shah syndrome, a disorder characterized by p

66 hensive mutation screen for individuals with Waardenburg syndrome.

67 MITF mutations occur in patients with Waardenburg syndrome type 2, a disorder associated with

68 utations have been reported in patients with Waardenburg-Hirschsprung syndrome and its murine model,

69 0 gene have been identified in patients with Waardenburg-Hirschsprung syndrome that is characterized

70 cordance of a pair of monozygotic twins with Waardenburg syndrome (WS) and previous reports of simila

71 We have analysed a zebrafish Waardenburg-Shah syndrome model.