ライフサイエンスコーパス: Lowe syndrome

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1 nase inhibitors as a therapeutic strategy in Lowe syndrome.

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

3 ciliary dysfunction in the manifestation of Lowe syndrome.

4 raffic leads to the neurological symptoms of Lowe syndrome.

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

6 cal abnormalities that are characteristic of Lowe syndrome.

7 toskeleton in fibroblasts from patients with Lowe syndrome.

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

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

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

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

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

13 Lowe syndrome, a multisystem disease characterized by re

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

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

16 Lowe syndrome and Dent disease are two conditions that r

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

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

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

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

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

22 Lowe syndrome-associated mutations in OCRL result in sho

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

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

25 The Lowe syndrome gene, OCRL1, encodes a phosphatidylinosito

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

27 Lowe syndrome is a rare X-linked disorder characterized

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

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

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

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

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

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

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

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

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

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

38 ) 5-phosphatase deficiency might produce the Lowe syndrome phenotype.

39 Lowe syndrome results from mutations in the OCRL1 gene,

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

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

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

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

44 Lowe syndrome, which is characterized by defects in the

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

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