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 (LS) is a lethal genetic disorder caused b

3 Lowe syndrome (LS) is an X-linked developmental disease

4 Lowe syndrome (LS) is an X-linked recessive disorder cau

5 Lowe syndrome and Dent disease are two conditions that r

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

7 Lowe syndrome is a rare X-linked disorder characterized

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

9 Lowe syndrome results from mutations in the OCRL1 gene,

10 Lowe syndrome, a multisystem disease characterized by re

11 Lowe syndrome, a rare X-linked multisystem disorder pres

12 Lowe syndrome, which is characterized by defects in the

13 Lowe syndrome-associated mutations in OCRL result in sho

14 vestigate the role of OCRL in Dent disease 2/Lowe syndrome by using OcrlY/- mice, where the lethal de

15 mechanistic understanding of Dent disease 2/Lowe syndrome remains scarce due to limitations of anima

16 orrection of a disease-causing mutation in a Lowe patient-derived fibroblast line containing R844X mu

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

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

19 trum of neurodevelopmental disorders such as Lowe and Joubert syndromes and congenital muscular dystr

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

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

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

23 ons of the inositol 5-phosphatase OCRL cause Lowe syndrome (LS), characterized by congenital cataract

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

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

26 ntral hypotonia and intellectual disability (Lowe syndrome).

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

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

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

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

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

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

33 ere, we demonstrate a novel gene therapy for Lowe syndrome in patient fibroblasts using an adenine ba

34 ted gene therapy is a feasible treatment for Lowe syndrome, laying the foundation for therapeutic app

35 ere are no effective targeted treatments for Lowe syndrome.

36 pathway restores normal cytokinesis in human Lowe syndrome cells and rescues OCRL phenotypes in a zeb

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

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

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

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

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

42 new avenues for therapeutic interventions in Lowe syndrome and Dent disease.

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

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

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

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

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

48 nase inhibitors as a therapeutic strategy in Lowe syndrome.

49 docytosis underlies the renal tubulopathy in Lowe syndrome and Dent-2 disease.

50 e inositol polyphosphate 5-phosphatase OCRL (Lowe oculocerebrorenal syndrome protein) disrupt phospho

51 rthologue of dOCRL, causes oculocerebrorenal Lowe syndrome, a rare multisystemic genetic disease.

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

53 cal abnormalities that are characteristic of Lowe syndrome.

54 ciliary dysfunction in the manifestation of Lowe syndrome.

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

56 tudies substantiate the first mouse model of Lowe syndrome and give insights into the role of OCRL in

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

58 raffic leads to the neurological symptoms of Lowe syndrome.

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

60 5-phosphatase oculocerebrorenal syndrome of Lowe (OCRL) and share the feature of impaired kidney pro

61 ol phosphatase oculocerebrorenal syndrome of Lowe (OCRL) by coupling it to endocytic BAR domain prote

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

63 5' phosphatase oculocerebrorenal syndrome of Lowe (OCRL) give rise to the congenital X-linked disorde

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

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

66 ndrome protein oculocerebrorenal syndrome of Lowe (OCRL), is required for endocytic traffic of megali

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

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

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

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

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

72 fective in the oculocerebrorenal syndrome of Lowe.

73 potential new strategy for the treatment of Lowe syndrome.

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

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

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

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

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

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

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

81 The Lowe oculocerebrorenal syndrome is an X-linked disorder

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

83 The Lowe syndrome gene, OCRL1, encodes a phosphatidylinosito

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

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

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

87 kDa (Ipip27A), an interacting partner of the Lowe syndrome protein oculocerebrorenal syndrome of Lowe

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

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

90 ) 5-phosphatase deficiency might produce the Lowe syndrome phenotype.

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

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

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

94 tdIns(4,5)P(2) on membranes and, ultimately, Lowe syndrome.

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

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

97 thogenic variant in the gene associated with Lowe syndrome in one child, and an average of 1.8 report

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

99 biomicroscopy comparison of two infants with Lowe oculocerebrorenal syndrome, one with glaucoma and o

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

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

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

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

104 toskeleton in fibroblasts from patients with Lowe syndrome.

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

106 s and rescues OCRL phenotypes in a zebrafish Lowe syndrome model.