ライフサイエンスコーパス: aganglionosis

1 n age 15, range 4-32 years; 86% rectosigmoid aganglionosis).

2 form of Hirschsprung disease (total colonic aganglionosis).

3 n age 15, range 4-32 years; 86% rectosigmoid aganglionosis).

4 of formation of enteric ganglia (intestinal aganglionosis).

5 mycophenolate-induced migration defects and aganglionosis.

6 able to sensitize Pax3(+/-) mice to colonic aganglionosis.

7 in Hirschsprung's disease (HSCR) or colonic aganglionosis.

8 changes in the colon, is sufficient to cause aganglionosis.

9 ltured avian intestine also leads to hindgut aganglionosis.

10 stinct effects on penetrance and severity of aganglionosis.

11 s to the variation observed in patients with aganglionosis.

12 rk producing variation between patients with aganglionosis.

13 progeny exhibiting significantly more severe aganglionosis.

14 using recombinant protein, led to intestinal aganglionosis.

15 cochlear neurosensory deafness, and enteric aganglionosis.

16 glionic small intestine of mice with colonic aganglionosis.

17 der-dependent, and varies with the extent of aganglionosis.

18 er birth due to congenital distal intestinal aganglionosis.

19 stem as well as hypopigmentation and enteric aganglionosis.

20 oat color spotting and congenital intestinal aganglionosis.

21 sion, rather than a secondary consequence of aganglionosis.

22 t whose dys-regulation is a cause of enteric aganglionosis.

23 layed precursor migration, and induced bowel aganglionosis.

24 tion, Meis3-depleted embryos exhibit colonic aganglionosis, a disorder in which the hindgut is devoid

25 use line (Hry) that displays partial enteric aganglionosis, a loss of melanocytes, and decreased Sox1

26 usion of the ribs, short limbs, distal colon aganglionosis, abnormal migration and axonal projections

27 ncy differences by gender, segment length of aganglionosis and familiality.

28 Sox10(Dom)/+ mice exhibit variability of aganglionosis and hypopigmentation influenced by genetic

29 HSCR cases and Sox10 alleles in mice exhibit aganglionosis and pigmentary anomalies typical of a subs

30 ome (WS4), which is characterized by enteric aganglionosis and pigmentation defects.

31 chyme, based on the phenotypes of intestinal aganglionosis and renal agenesis observed in homozygous

32 tor (GDNF), both exhibit complete intestinal aganglionosis and renal defects.

33 tor (GDNF), exhibit both complete intestinal aganglionosis and renal defects.

34 Mutations in Ret and GDNF cause intestinal aganglionosis and renal dysplasia.

35 ereas mice lacking Ret(M) exhibit intestinal aganglionosis and the absence of kidneys with other geni

36 ine gene which is associated with intestinal aganglionosis and the focal absence of melanocytes in he

37 The thought that ganglia proximal to aganglionosis are normal has guided surgical procedures

38 anglia deficits in Sox10Dom mice and defined aganglionosis as a quantitative trait in Sox10Dom interc

39 however, is not sufficient to cause colonic aganglionosis as alterations in the balance of NCC proli

40 l medullary thyroid carcinoma and intestinal aganglionosis (Hirschsprung disease).

41 the enteric nervous system (ENS) can lead to aganglionosis in a variable portion of the distal gastro

42 pathway (EdnrB, Edn3, Ece1) and severity of aganglionosis in an extended pedigree of B6C3FeLe.Sox10D

43 Patients presenting with aganglionosis in association with hypopigmentation are c

44 iciency of Tcof1 and Pax3 results in colonic aganglionosis in mice and may contribute to the pathogen

45 f-function allele (ret.k-) causes intestinal aganglionosis in mice.

46 ected individuals and non-complementation of aganglionosis in mouse intercrosses between Ret null and

47 At one end of the spectrum is complete aganglionosis in patients with end-stage or fulminant di

48 tations of this gene cause distal intestinal aganglionosis in rodents, but its mechanism of action is

49 that vitamin A depletion causes distal bowel aganglionosis in serum retinol-binding-protein-deficient

50 ed with increased penetrance and more severe aganglionosis in Sox10Dom mutants.

51 s the incidence and severity of distal bowel aganglionosis induced by vitamin A deficiency in Rbp4(-/

52 mulative evidence suggests that variation of aganglionosis is due to gene interactions that modulate

53 ung disease (HSCR), or congenital intestinal aganglionosis, is a relatively common disorder of neural

54 ecretion may arise when ENS defects short of aganglionosis occur during development.

55 owledgment of random events that may lead to aganglionosis of the distal bowel.

56 ic neurocristopathy clinically recognized by aganglionosis of the distal gastrointestinal tract.

57 thelin receptor B (EDNRB) signaling leads to aganglionosis of the distal gut (Hirschsprung's disease)

58 stoma (NB) with Hirschsprung disease (HSCR) (aganglionosis of the terminal bowel) and congenital cent

59 to Hirschsprung's disease (HSCR; congenital aganglionosis of the terminal bowel), which is still imp

60 mutation that develop fetal megacolon after aganglionosis of the terminal colon) were prepared to re

61 = 0.13) and significantly so with length of aganglionosis (p = 7.6 x 10(-5)) and familiality (p = 6.

62 proteins including Shc, caused distal colon aganglionosis reminiscent of Hirschsprung disease (HSCR)

63 by 1 month of age and had distal intestinal aganglionosis reminiscent of Hirschsprung disease (HSCR)

64 uses Hirschsprung disease with total colonic aganglionosis, restored ENCC function.

65 stine, ENCC migration is arrested and distal aganglionosis results, suggesting that ENCCs require the

66 glionosis that are analogous to the variable aganglionosis seen in human HSCR families.

67 and 11 do not coincide with previously known aganglionosis susceptibility genes or modifier loci and

68 on in penetrance and expressivity of enteric aganglionosis that are analogous to the variable agangli

69 mutants ranges over a continuum from severe aganglionosis to no detectable phenotype in the gut.

70 To study the development of colonic aganglionosis we have utilized a novel knockout mouse (E

71 identify genes that modulate Sox10-dependent aganglionosis, we performed a single nucleotide polymorp

72 PSC) lines from 1 patient with total colonic aganglionosis (with the G731del mutation in RET) and fro