ライフサイエンスコーパス: Lowe

1 Lowe syndrome (LS) is a devastating, X-linked genetic di

2 Lowe syndrome and Dent disease are two conditions that r

3 Lowe syndrome is a rare X-linked congenital disease that

4 Lowe syndrome is a rare X-linked disorder characterized

5 Lowe syndrome is an X-linked disorder that has a complex

6 Lowe syndrome results from mutations in the OCRL1 gene,

7 Lowe syndrome, a multisystem disease characterized by re

8 Lowe syndrome, which is characterized by defects in the

9 Lowe syndrome-associated mutations in OCRL result in sho

10 reased loss into urine in Dent's disease and Lowe's syndrome.

11 encies are associated with hydrocephalus and Lowe oculocerebrorenal syndrome, respectively.

12 framed within a kinetic scheme developed by Lowe and Thorneley.

13 The peptide KLVFF-K6 was observed by Lowe et al. to simultaneously enhance amyloid beta-prote

14 A recent paper published by Lowe and Romney in Emerging Infectious Diseases titled,

15 ons in the inositol 5-phosphatase OCRL cause Lowe syndrome and Dent's disease.

16 n of the inositol 5-phosphatase OCRL1 causes Lowe syndrome and Dent-2 disease.

17 in this activity result in the human disease Lowe syndrome.

18 n the urine of patients with Dent's disease, Lowe's syndrome, or autosomal dominant idiopathic Fancon

19 Here, we describe a zebrafish model for Lowe syndrome using stable and transient suppression of

20 OCRL, whose mutations are responsible for Lowe syndrome and Dent disease, and INPP5B are two simil

21 he gene that when mutated is responsible for Lowe syndrome, or oculocerebrorenal syndrome (OCRL), is

22 sitol 5-phosphatase OCRL are responsible for Lowe syndrome, whose manifestations include mental retar

23 AAAG in Lowe patient 1 and c.1595-1631del in Lowe patient 2.

24 utations are detected at c.739-742delAAAG in Lowe patient 1 and c.1595-1631del in Lowe patient 2.

25 (+2) that would be expected to be altered in Lowe cells.

26 ns result in a myriad of phenotypes found in Lowe syndrome.

27 s more-extensive phenotypic heterogeneity in Lowe syndrome than was previously appreciated.

28 Here we show that OCRL loss in Lowe syndrome patient fibroblasts impacts clathrin-media

29 lyphosphate 5-phosphatase that is mutated in Lowe syndrome, was investigated by fluorescence microsco

30 l polyphosphate 5-phosphatase, is mutated in Lowe syndrome.

31 nclusion, we report novel OCRL1 mutations in Lowe syndrome patients and the corresponding histopathol

32 logical defects similar to those reported in Lowe syndrome patients, namely increased susceptibility

33 nase inhibitors as a therapeutic strategy in Lowe syndrome.

34 ous system and ocular defects in the case of Lowe syndrome.

35 cal abnormalities that are characteristic of Lowe syndrome.

36 ciliary dysfunction in the manifestation of Lowe syndrome.

37 L1 leads to the phenotypic manifestations of Lowe syndrome are currently unclear, in part, owing to t

38 The pathogenesis of Lowe syndrome due to deficiency of a phosphatidylinosito

39 raffic leads to the neurological symptoms of Lowe syndrome.

40 Oculocerebral renal syndrome of Lowe (OCRL or Lowe syndrome), a severe X-linked congenit

41 5-phosphatase oculocerebrorenal syndrome of Lowe (OCRL) and share the feature of impaired kidney pro

42 ase-associated oculocerebrorenal syndrome of Lowe (OCRL) deficiencies are reduced by inhibiting PI(3)

43 5' phosphatase oculocerebrorenal syndrome of Lowe (OCRL) give rise to the congenital X-linked disorde

44 The oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by c

45 The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked human genetic disorder charac

46 nked disorders oculocerebrorenal syndrome of Lowe and Dent disease, two conditions giving rise to abn

47 inked disorder oculocerebrorenal syndrome of Lowe is caused by mutation of the OCRL1 protein, an inos

48 monstrate that oculocerebrorenal syndrome of Lowe protein 1 (OCRL1), a Golgi complex-localized phosph

49 tase, Ocrl1 (Oculo-Cerebro-Renal syndrome of Lowe protein 1), the mechanism by which this enzyme defi

50 result in the oculocerebrorenal syndrome of Lowe, with symptoms including congenital bilateral catar

51 fective in the oculocerebrorenal syndrome of Lowe.

52 culocerebral renal syndrome of Lowe (OCRL or Lowe syndrome), a severe X-linked congenital disorder ch

53 reference method), Etest using BGA and Regan-Lowe agar without cephalexin (RL-C), and disk diffusion

54 r disk diffusion testing on commercial Regan-Lowe agar appears to be an adequate method for erythromy

55 Agar dilution MICs were determined on Regan-Lowe agar.

56 ts, performed on commercially prepared Regan-Lowe agar, to the agar dilution MIC result.

57 elebrating peer reviewers, we talk to Robert Lowe, who is a Lecturer in computational biology at Quee

58 vels in patient keratinocytes and found that Lowe 1 patient cells had significantly reduced OCRL prot

59 The Lowe oculocerebrorenal syndrome is an X-linked disorder

60 The Lowe syndrome (LS) is a life-threatening, developmental

61 The Lowe syndrome gene, OCRL1, encodes a phosphatidylinosito

62 d we term this state "E0H(+)", following the Lowe-Thorneley naming scheme.

63 The cells from the Lowe syndrome patient lack OCRL protein.

64 or disorders resulting from mutations in the Lowe syndrome gene OCRL1 need to be revised.

65 A proposed unification of the Lowe-Thorneley kinetic model with the "prompt" alternati

66 In the context of the Lowe-Thorneley kinetic scheme for N2 reduction, these re

67 ) 5-phosphatase deficiency might produce the Lowe syndrome phenotype.

68 Assuming that the Lowe-Thorneley model for nitrogenase applies and that a

69 As simulated by the Thorneley-Lowe kinetic scheme, this single mutation lowered the ra

70 Unlike patients with typical Lowe syndrome, none of these patients had metabolic acid

71 ntified two novel mutations in two unrelated Lowe syndrome patients with congenital glaucoma.

72 and are consistent with a scenario in which Lowe syndrome and Dent disease result from perturbations

73 sease (n = 10) and for the two families with Lowe's syndrome (n = 3).

74 om kidney proximal tubules of a patient with Lowe syndrome and a normal individual were used to study

75 al enzymes in the plasma of 15 patients with Lowe syndrome and 15 age-matched male controls.

76 ysosomal enzyme trafficking in patients with Lowe syndrome that leads to increased extracellular lyso

77 PIP2 in human fibroblasts from patients with Lowe syndrome, a genetic disorder that affects phosphoin

78 toskeleton in fibroblasts from patients with Lowe syndrome.

79 ile 85% of the values are from patients with Lowe syndrome.