ライフサイエンスコーパス: CHARGE syndrome

1 utation of CHD7, usually associated with the CHARGE syndrome.

2 deller, have been identified as the cause of CHARGE syndrome.

3 c, consistent with the pleiotropic nature of CHARGE syndrome.

4 rtant insight into the mechanisms underlying CHARGE syndrome.

5 e remodeling factor, is the leading cause of CHARGE syndrome.

6 ay thus have a major contribution to CHDs in CHARGE syndrome.

7 est it as an intervention worthy of study in CHARGE syndrome.

8 e FBXL10 as a possible therapeutic target in CHARGE syndrome.

9 s analogous to those affected in humans with CHARGE syndrome.

10 NRXN1, and CHD7, which causes ASD-associated CHARGE syndrome.

11 ause human developmental disorders including CHARGE syndrome.

12 re present in 60-80% of individuals with the CHARGE syndrome.

13 domain have been identified in patients with CHARGE syndrome.

14 ive form recapitulates all major features of CHARGE syndrome.

15 e for investigation into the pathogenesis of CHARGE syndrome.

16 ural crest-derived aspects of Chd7 dependent CHARGE syndrome.

17 HH/KS represents a milder allelic variant of CHARGE syndrome.

18 ne CHD7 were reported to be a major cause of CHARGE syndrome.

19 Many of these defects mimic the features of CHARGE syndrome.

20 d7 functions in white matter pathogenesis in CHARGE syndrome.

21 ajority of cases of the congenital disorder, CHARGE syndrome.

22 is complex (36%), Angelman's syndrome (34%), CHARGE syndrome (30%), fragile X syndrome (male individu

23 ing protein 7 (CHD7) is the primary cause of CHARGE syndrome, a complex developmental disorder charac

24 l findings at birth were consistent with the CHARGE syndrome, a diagnosis that could not have been re

25 utation of the CHD7 gene is a major cause of CHARGE syndrome, a genetic disease characterized by a co

26 CHD7 is a chromodomain gene mutated in CHARGE syndrome, a multiple anomaly condition characteri

27 re present in a majority of individuals with CHARGE syndrome, a multiple anomaly disorder characteriz

28 It is mutated in CHARGE syndrome, a multiple congenital anomaly condition

29 CHARGE syndrome, a multisystem autosomal-dominant disord

30 Ear Abnormalities With or Without Deafness (CHARGE) syndrome, a variable combination of multiple con

31 efects (CHDs) are major clinical features of CHARGE syndrome, affecting >75% of patients, it remains

32 Mutations in CHD7 are the major cause of CHARGE syndrome, an autosomal dominant disorder with an

33 smic IHH and KS are mild allelic variants of CHARGE syndrome and are caused by CHD7 mutations.

34 h several complex human disorders, including CHARGE syndrome and autism.

35 ogical overlap between the rare, early-onset CHARGE syndrome and common, later-onset IS.

36 Olfactory dysfunction is a common feature in CHARGE syndrome and has been potentially linked to prima

37 CHARGE syndrome and Kallmann syndrome (KS) are two disti

38 molecular aetiology of cerebellar defects in CHARGE syndrome and link reduced FGF signalling to cereb

39 CHD group that is associated with the human CHARGE syndrome, and GO analyses of aberrant gene expres

40 dellers, illuminates the patho-embryology of CHARGE syndrome, and suggests a broader function for CHD

41 s who had received the clinical diagnosis of CHARGE syndrome, and we detected mutations in 64 (58%).

42 iption, and that the congenital anomalies in CHARGE syndrome are due to alterations in transcription

43 The clinical features of CHARGE syndrome are highly variable and incompletely pen

44 (2013) report that the gene mutated in human CHARGE syndrome, ATP-dependent chromatin remodeling fact

45 Despite 70-90% of CHARGE syndrome cases resulting from mutations in the ge

46 and facial asymmetry are common findings in CHARGE syndrome caused by CHD7 mutation.

47 ct disruption of CHD7, a causal locus in the CHARGE syndrome (coloboma of the eye, heart anomaly, atr

48 ations have been identified in patients with CHARGE syndrome (coloboma, heart defects, choanal atresi

49 CHARGE syndrome (CS, OMIM #214800) is a rare, autosomal

50 CHARGE syndrome has been associated with mutations in th

51 rds of individuals clinically diagnosed with CHARGE syndrome have heterozygous loss-of-function mutat

52 velopment of the mouse in organs affected in CHARGE syndrome including eye, olfactory epithelium, inn

53 ost of phenotypes that are characteristic of CHARGE syndrome, including coloboma, inner and outer ear

54 CHARGE syndrome is a multiple anomaly disorder in which

55 CHARGE syndrome is a rare genetic syndrome characterised

56 CHARGE syndrome is a sporadic autosomal-dominant genetic

57 CHARGE syndrome is a well-established multiple-malformat

58 protein 7 (Chd7), frequently associated with CHARGE syndrome, is indispensable for normal cerebellar

59 chromatin remodeling enzyme mutated in human CHARGE syndrome, is necessary for proliferation of inner

60 omodomain helicase DNA-binding protein 7, in CHARGE syndrome lead to multiple congenital anomalies, i

61 leading to dissimilar disease states such as CHARGE syndrome or autism spectrum disorders.

62 eport cerebellar vermis hypoplasia in 35% of CHARGE syndrome patients with a proven CHD7 mutation.

63 bryos and can lead to complete rescue of the CHARGE syndrome phenotype.

64 Although it was postulated 25 years ago that CHARGE syndrome results from the abnormal development of

65 al crest cells or samples from patients with CHARGE syndrome results in p53 activation.

66 se-oligonucleotide-based zebrafish model for CHARGE syndrome, we uncover a complex spectrum of abnorm

67 e human CHD7 gene is known to be involved in CHARGE syndrome, which also shows inner ear malformation

68 neurodevelopmental deficits associated with CHARGE syndrome, which include cerebellar hypoplasia, de

69 constellation of congenital anomalies called CHARGE syndrome, which is a sporadic, autosomal dominant

70 nces that distinguished the individuals with CHARGE syndrome with CHD7 mutation from the controls.