ライフサイエンスコーパス: dent

1 nce identity range, the so-called 'BRaliBase Dent'.

2 5-phosphatase OCRL1 causes Lowe syndrome and Dent-2 disease.

3 ent of whole-grain-maize-based noodles using Dent and Flint maize genotypes.

4 temporal endothelial cell density (DenC and DenT), and coefficient of variation in cell area (CVC an

5 Both this syndrome and Dent Disease 2 result from loss-of-function mutations in

6 hus, we created an animal model for OCRL and Dent Disease 2 tubulopathy by humanizing a modifier para

7 bservation confirms genetic heterogeneity in Dent disease and demonstrates more-extensive phenotypic

8 The symptoms of Dent disease are replicated in Clcn5 knock-out mice.

9 Lowe syndrome and Dent disease are two conditions that result from mutatio

10 mal-tubular reabsorption and is decreased in Dent disease because of mutations of the chloride/proton

11 amilies, all of whom met strict criteria for Dent disease but lacked mutations in CLCN5.

12 les, phenocopying what has been reported for Dent disease caused by mutations in the gene encoding en

13 s, our studies, which have established human Dent disease ciPTECs that will facilitate studies of mec

14 ected in Dent disease, but no other gene for Dent disease has been reported.

15 n occur with the isolated renal phenotype of Dent disease in patients lacking the cataracts, renal tu

16 Dent disease is an X-linked renal proximal tubulopathy a

17 t with a scenario in which Lowe syndrome and Dent disease result from perturbations at multiple sites

18 ations are responsible for Lowe syndrome and Dent disease, and INPP5B are two similar proteins compri

19 Genetic heterogeneity has been suspected in Dent disease, but no other gene for Dent disease has bee

20 rders oculocerebrorenal syndrome of Lowe and Dent disease, two conditions giving rise to abnormal kid

21 isms in renal reabsorption, demonstrate that Dent disease-causing CLC-5 mutations have differing effe

22 Mutations of the CLCN5 gene cause Dent disease.

23 t appears that the transient deformation (or dent) in the tube wall may provide a previously unknown

24 ion) into the background of N28 (a Corn Belt Dent inbred line).

25 ndoreduplication phenotype into a midwestern dent inbred line, a backcross population was generated f

26 In this article, we show this dent is owing to a bias in the composition of the BRaliB

27 idence of selection in the maize Krug Yellow Dent long-term divergent seed-size selection experiment.

28 arge and small seed size from Krug, a yellow dent maize cultivar.

29 Dent maize noodles from traditional and ecological nixta

30 Dent maize noodles had undergone phenolics loss of 5-6%

31 Hybrid WF9 * 38MS, B73 * Missouri 17, Yellow Dent, Merit, and Great Lakes Hybrid 422) to reinvestigat

32 The central dent of the prepore has a diameter of 3.2 +/- 0.2 nm.

33 was observed for eight of nine families with Dent's disease (n = 10) and for the two families with Lo

34 ubules and thus decreased loss into urine in Dent's disease and Lowe's syndrome.

35 Their dysfunction causes Dent's disease and osteopetrosis, respectively.

36 uptake, based on evidence from patients with Dent's disease and studies in ClC-5 knockout mice.

37 us, CLC-5-deficient mice provide a model for Dent's disease and this will help in elucidating the fun

38 rome and low molecular weight proteinuria in Dent's disease can be explained by disruption of endosom

39 In patients with Dent's disease during chlorthalidone therapy, the supers

40 This suggests that hypercalciuria in Dent's disease is a direct consequence of CLC5 hypofunct

41 Dent's disease is an X-linked inherited disorder charact

42 Dent's disease is due to inactivating mutations of the r

43 A microdeletion in one Dent's disease kindred allowed the identification of a c

44 acilitate in vivo investigations of CLC-5 in Dent's disease we generated mice lacking CLC-5 by target

45 rine composition in eight male patients with Dent's disease, ages 6 to 49 yr, all of whom were hyperc

46 jor risk factor promoting stone formation in Dent's disease, also known as X-linked recessive nephrol

47 or are present in the urine of patients with Dent's disease, Lowe's syndrome, or autosomal dominant i

48 One such hypercalciuric disorder is Dent's disease, which is characterized by renal proximal

49 disorders of hypercalciuric nephrolithiasis (Dent's disease, X-linked recessive nephrolithiasis (XRN)

50 The common aetiology for Dent's disease, XRN and XLRH indicates that CLCN5 may be

51 l 5-phosphatase OCRL cause Lowe syndrome and Dent's disease.

52 of kidney stone recurrence in patients with Dent's disease.

53 ssion (probands from the Depression Network [DeNT] study; N=332), and 3) a pharmacogenetic study (the

54 ittle variation was found between midwestern dent types, and high levels of endoreduplication were ob