ライフサイエンスコーパス: CHARGE syndrome

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

2 d7 functions in white matter pathogenesis in CHARGE syndrome.

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

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

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

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

7 rtant insight into the mechanisms underlying CHARGE syndrome.

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

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

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

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

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

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

14 ause human developmental disorders including CHARGE syndrome.

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

16 domain have been identified in patients with CHARGE syndrome.

17 ive form recapitulates all major features of CHARGE syndrome.

18 e for investigation into the pathogenesis of CHARGE syndrome.

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

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

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

22 gyria, which we have also found in a case of CHARGE syndrome.

23 ential implications for our understanding of CHARGE syndrome.

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

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

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

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

28 the chromatin remodeling enzyme CHD7 causes CHARGE syndrome, a genetic disorder that affects the dev

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

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

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

32 CHARGE syndrome, a multisystem autosomal-dominant disord

33 CHARGE syndrome, a rare multiple congenital anomaly cond

34 tated, has been shown to be the cause of the CHARGE syndrome, a severe developmental human disorder.

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

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

37 Mutations in CHD7 cause CHARGE syndrome, affecting multiple organs including the

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

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

40 Haploinsufficiency of CHD7 in humans causes CHARGE syndrome and attenuation of let-7 function may be

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

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

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

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

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

46 omplete understanding of the pathogenesis of CHARGE syndrome and raises the possibility of a dose-sen

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

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

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

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

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

52 ein 7 (CHD7), which is frequently mutated in CHARGE syndrome, as an integral component of the non-hom

53 (2013) report that the gene mutated in human CHARGE syndrome, ATP-dependent chromatin remodeling fact

54 The majority of CHARGE syndrome cases are caused by heterozygous mutatio

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

56 linically relevant elements for interpreting CHARGE syndrome cases without causative allocation.

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

58 ction in the chromatin remodeler CHD7 causes CHARGE syndrome, characterized by variable penetrance an

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

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

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

62 lobomas, facial dysmorphology reminiscent of CHARGE syndrome, developmental delay and intellectual di

63 CHARGE syndrome has been associated with mutations in th

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

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

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

67 CHARGE syndrome is a complex developmental disorder caus

68 CHARGE syndrome is a multiple anomaly disorder in which

69 CHARGE syndrome is a rare genetic syndrome characterised

70 CHARGE syndrome is a relatively common cause of deafness

71 CHARGE syndrome is a sporadic autosomal-dominant genetic

72 CHARGE syndrome is a well-established multiple-malformat

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

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

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

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

77 ls are often associated with 22q11 deletion, CHARGE syndrome, or right aortic arch.

78 ation for CHD7, and offers new insights into CHARGE syndrome pathogenesis.

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

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

81 Neurocristopathies such as CHARGE syndrome result from aberrant neural crest develo

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

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

84 .23 duplication has not been associated with CHARGE syndrome, retinochoroidal colobomas, or significa

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

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

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

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

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

90 th 7q11.23 duplication syndrome and clinical CHARGE syndrome with no variant in CHARGE-associated gen

91 Those with CHARGE syndrome without CHD7 mutation typically do not h