ライフサイエンスコーパス: primary ciliary dyskinesia

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

2 creases this ratio, mimicking the ciliopathy primary ciliary dyskinesia.

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

4 e, 9+2 cilia and offers a new model of human primary ciliary dyskinesia.

5 02), with the exception being a subject with primary ciliary dyskinesia.

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

7 a; it was found to be greater in both CF and primary ciliary dyskinesia.

8 H domains thus represent good candidates for primary ciliary dyskinesias.

9 rototypical disorder of respiratory cilia is primary ciliary dyskinesia, an inherited disorder that l

10 r of airway nucleotide concentrations in CF, primary ciliary dyskinesia, and alpha1-antitrypsin defic

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

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

13 diseases that disable ciliary flow, such as primary ciliary dyskinesia, can compromise organ functio

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

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

16 ch the gene was concurrently identified, and primary ciliary dyskinesia, for which causative genes ha

17 Clinically, COME is highly associated with Primary Ciliary Dyskinesia, implicating significant cont

18 ce from diseases such as cystic fibrosis and primary ciliary dyskinesia, in which mucociliary dysfunc

19 Primary ciliary dyskinesia is an autosomal recessive dis

20 mozygous CF patients, and a disease control, primary ciliary dyskinesia; it was found to be greater i

21 Primary ciliary dyskinesia most often arises from loss o

22 Bronchial cultures from patients with CF, primary ciliary dyskinesia, or alpha1-antitrypsin defici

23 involving human patients and mouse models of primary ciliary dyskinesia over the last decade have unc

24 ship between clinical phenotype of childhood primary ciliary dyskinesia (PCD) and ultrastructural def

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

26 ONALE: The standard approach to diagnosis of primary ciliary dyskinesia (PCD) in the United Kingdom c

27 Primary ciliary dyskinesia (PCD) is a ciliopathy charact

28 Primary ciliary dyskinesia (PCD) is a genetic disease ch

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

30 Primary ciliary dyskinesia (PCD) is a genetic disorder c

31 Primary ciliary dyskinesia (PCD) is a genetically hetero

32 Primary ciliary dyskinesia (PCD) is a genetically hetero

33 Primary ciliary dyskinesia (PCD) is a genetically hetero

34 Primary ciliary dyskinesia (PCD) is a genetically hetero

35 Primary ciliary dyskinesia (PCD) is a genetically hetero

36 Primary ciliary dyskinesia (PCD) is a rare, usually auto

37 Primary ciliary dyskinesia (PCD) is a recessive genetic

38 Primary ciliary dyskinesia (PCD) is an autosomal recessi

39 Primary ciliary dyskinesia (PCD) is an autosomal recessi

40 Primary ciliary dyskinesia (PCD) is an inherited chronic

41 Primary ciliary dyskinesia (PCD) is caused when defects

42 Primary ciliary dyskinesia (PCD) is characterized by dys

43 ciliary dysfunction (CD) similar to that of primary ciliary dyskinesia (PCD) may contribute to incre

44 Primary ciliary dyskinesia (PCD) results from ciliary dy

45 d from normal donors and from a patient with primary ciliary dyskinesia (PCD) whose cilia demonstrate

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

47 Dyx1c1 in mice caused a phenotype resembling primary ciliary dyskinesia (PCD), a disorder characteriz

48 nts RSPH1, 3, 4a and 9 have been linked with primary ciliary dyskinesia (PCD), a disorder characteriz

49 Primary ciliary dyskinesia (PCD), also known as Kartagen

50 fects in ODA assembly are the major cause of primary ciliary dyskinesia (PCD), an inherited disorder

51 cts in motile cilia and sperm flagella cause primary ciliary dyskinesia (PCD), characterized by chron

52 Defects of motile cilia cause primary ciliary dyskinesia (PCD), characterized by recur

53 in humans and lead to a ciliopathy known as primary ciliary dyskinesia (PCD).

54 ilia dysfunction results in diseases such as primary ciliary dyskinesia (PCD).

55 ould be equally sensitive to lung disease in primary ciliary dyskinesia (PCD).

56 se evolutionarily conserved organelles cause primary ciliary dyskinesia (PCD).

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

58 n commonly results in the pediatric syndrome primary ciliary dyskinesia (PCD).

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

60 n arm assembly and ciliary motility, causing primary ciliary dyskinesia phenotypes that include hydro

61 ction of the central apparatus that includes primary ciliary dyskinesia protein 1 (Pcdp1).

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

63 FAP221, is an orthologue of mammalian Pcdp1 (primary ciliary dyskinesia protein 1).

64 s a dynein arm attachment factor that causes primary ciliary dyskinesia when mutated.

65 humans, cilia motility deficiencies lead to primary ciliary dyskinesia, with upper-airways recurrent