ライフサイエンスコーパス: ciliary dyskinesia

1 proteins (DNAH5; CCDC39) as seen in primary ciliary dyskinesia.

2 this ratio, mimicking the ciliopathy primary ciliary dyskinesia.

3 ne-rich repeat that in humans causes primary ciliary dyskinesia.

4 ilia and offers a new model of human primary ciliary dyskinesia.

5 h the exception being a subject with primary ciliary dyskinesia.

6 se (PKD), Bardet-Biedl syndrome, and primary ciliary dyskinesia.

7 s found to be greater in both CF and primary ciliary dyskinesia.

8 s thus represent good candidates for primary ciliary dyskinesias.

9 cal disorder of respiratory cilia is primary ciliary dyskinesia, an inherited disorder that leads to

10 way nucleotide concentrations in CF, primary ciliary dyskinesia, and alpha1-antitrypsin deficiency.

11 adult respiratory distress syndrome, primary ciliary dyskinesia, and pulmonary hypertension.

12 We report the diagnosis of primary ciliary dyskinesia associated with a circular ciliary be

13 s that disable ciliary flow, such as primary ciliary dyskinesia, can compromise organ function or the

14 Defects in CCDC103 lead to primary ciliary dyskinesia caused by the loss of outer dynein ar

15 ) mice bear striking similarities to primary ciliary dyskinesia, Cby(-/-) mice may prove to be a usef

16 ene was concurrently identified, and primary ciliary dyskinesia, for which causative genes have been

17 ally, COME is highly associated with Primary Ciliary Dyskinesia, implicating significant contribution

18 diseases such as cystic fibrosis and primary ciliary dyskinesia, in which mucociliary dysfunction pre

19 Primary ciliary dyskinesia is an autosomal recessive disorder ch

20 CF patients, and a disease control, primary ciliary dyskinesia; it was found to be greater in both C

21 Primary ciliary dyskinesia most often arises from loss of the dy

22 eletal function, including manifestations of ciliary dyskinesia, neuronal loss, and defects in B and

23 hial cultures from patients with CF, primary ciliary dyskinesia, or alpha1-antitrypsin deficiency exh

24 g human patients and mouse models of primary ciliary dyskinesia over the last decade have uncovered a

25 ween clinical phenotype of childhood primary ciliary dyskinesia (PCD) and ultrastructural defects and

26 The diagnosis of primary ciliary dyskinesia (PCD) has relied on analysis of cilia

27 he standard approach to diagnosis of primary ciliary dyskinesia (PCD) in the United Kingdom consists

28 Primary ciliary dyskinesia (PCD) is a ciliopathy characterized b

29 Primary ciliary dyskinesia (PCD) is a genetic disease characteri

30 Primary ciliary dyskinesia (PCD) is a genetic disease characteri

31 Primary ciliary dyskinesia (PCD) is a genetic disorder character

32 Primary ciliary dyskinesia (PCD) is a genetically heterogeneous

33 Primary ciliary dyskinesia (PCD) is a genetically heterogeneous

34 Primary ciliary dyskinesia (PCD) is a genetically heterogeneous

35 Primary ciliary dyskinesia (PCD) is a genetically heterogeneous

36 Primary ciliary dyskinesia (PCD) is a genetically heterogeneous,

37 Primary ciliary dyskinesia (PCD) is a rare, usually autosomal re

38 Primary ciliary dyskinesia (PCD) is a recessive genetic disorder

39 Primary ciliary dyskinesia (PCD) is an autosomal recessive disea

40 Primary ciliary dyskinesia (PCD) is an autosomal recessive disor

41 Primary ciliary dyskinesia (PCD) is an inherited chronic respira

42 Primary ciliary dyskinesia (PCD) is caused when defects of motil

43 Primary ciliary dyskinesia (PCD) is characterized by dysfunction

44 dysfunction (CD) similar to that of primary ciliary dyskinesia (PCD) may contribute to increased res

45 Primary ciliary dyskinesia (PCD) results from ciliary dysfunctio

46 ormal donors and from a patient with primary ciliary dyskinesia (PCD) whose cilia demonstrated an abs

47 defects are the most common cause of primary ciliary dyskinesia (PCD), a congenital disorder of cilia

48 n mice caused a phenotype resembling primary ciliary dyskinesia (PCD), a disorder characterized by ch

49 1, 3, 4a and 9 have been linked with primary ciliary dyskinesia (PCD), a disorder characterized by ci

50 Primary ciliary dyskinesia (PCD), also known as Kartagener's syn

51 ODA assembly are the major cause of primary ciliary dyskinesia (PCD), an inherited disorder of cilia

52 otile cilia and sperm flagella cause primary ciliary dyskinesia (PCD), characterized by chronic airwa

53 Defects of motile cilia cause primary ciliary dyskinesia (PCD), characterized by recurrent res

54 ns and lead to a ciliopathy known as primary ciliary dyskinesia (PCD).

55 function results in diseases such as primary ciliary dyskinesia (PCD).

56 equally sensitive to lung disease in primary ciliary dyskinesia (PCD).

57 tionarily conserved organelles cause primary ciliary dyskinesia (PCD).

58 cilia (and the respiratory tract) is primary ciliary dyskinesia (PCD).

59 ly results in the pediatric syndrome primary ciliary dyskinesia (PCD).

60 Cilia motility defects cause primary ciliary dyskinesia (PCD, MIM244400), a disorder affectin

61 sembly and ciliary motility, causing primary ciliary dyskinesia phenotypes that include hydrocephalus

62 the central apparatus that includes primary ciliary dyskinesia protein 1 (Pcdp1).

63 of a single gene encoding the novel primary ciliary dyskinesia protein 1 (Pcdp1).

64 is an orthologue of mammalian Pcdp1 (primary ciliary dyskinesia protein 1).

65 ributors to several human diseases including ciliary dyskinesias, situs inversus, and retinitis pigme

66 Ciliary dyskinesia was observed by videomicroscopy.

67 in arm attachment factor that causes primary ciliary dyskinesia when mutated.

68 cilia motility deficiencies lead to primary ciliary dyskinesia, with upper-airways recurrent infecti