ライフサイエンスコーパス: Blau syndrome

コーパス検索結果 (１語後でソート)

通し番号をクリックするとPubMedの該当ページを表示します

1 receptor NOD2 is a genetic cause of uveitis (Blau syndrome).

2 up results in a 5-year longitudinal study of Blau syndrome.

3 diate the inflammation seen in patients with Blau syndrome.

4 cause a granulomatous type of uveitis called Blau syndrome.

5 atous disorders, such as Crohn's disease and Blau syndrome.

6 c inflammatory bowel disorder, and can cause Blau syndrome.

7 d with susceptibility to Crohn's disease and Blau syndrome.

8 ay phenotypic traits beyond those of classic Blau syndrome.

9 atory disorders, including Crohn disease and Blau syndrome.

10 Human macrophages from two patients with Blau syndrome also showed a reduction of both cytokine p

11 cific mutations in the human NOD2 gene cause Blau syndrome, an autosomal dominant form of uveitis, ar

12 RD15 is an important susceptibility gene for Blau syndrome and for other familial granulomatoses that

13 Blau syndrome and its sporadic counterpart, early-onset

14 e is responsible for the Mendelian disorder, Blau syndrome, and also predisposes to Crohn disease.

15 two inflammatory diseases, Crohn disease and Blau syndrome, and are thought to contribute to disease

16 ted with the development of Crohn's disease, Blau syndrome, and gastrointestinal cancers.

17 Blau syndrome (BS) and Crohn disease (CD) are both chara

18 duction in cells obtained from subjects with Blau syndrome compared with healthy control subjects.

19 tion were also observed in several unrelated Blau syndrome families, some of whose phenotypes include

20 The phenotype of Blau syndrome has proven to be more complex than initial

21 ined the effect of mutations associated with Blau syndrome in vitro, but none has looked at the impli

22 Furthermore, we presented 2 cases of Blau syndrome in which recombinant human IL-1 receptor a

23 ear cells cultured in vitro, obtained from 5 Blau syndrome individuals with a NOD2 (CARD15) mutation.

24 Blau syndrome is a monogenic disease resulting from muta

25 Blau syndrome is a rare, autosomal-dominant, autoinflamm

26 Blau syndrome is an autoinflammatory disease resulting f

27 ependent autoinflammatory cryopyrinopathies, Blau syndrome is not mediated by excess IL-1beta or othe

28 omerization domain containing 2 (NOD2) cause Blau syndrome is unknown.

29 Affected family members from the original Blau syndrome kindred were heterozygous for the R334W mi

30 Blau syndrome (MIM 186580), first described in a large,

31 The granulomatous character of Blau syndrome provides an opportunity to look at possibl

32 se carrying the most common mutation seen in Blau syndrome, R314Q (corresponding to R334Q in humans).

33 both R314Q mice and cells from patients with Blau syndrome show reduced responses to MDP.

34 s analyzed as a positional candidate for the Blau syndrome susceptibility gene, by direct DNA sequenc

35 tion of IFN-gamma may occur in patients with Blau syndrome, thereby contributing to the granulomatous

36 feature historically considered absent from Blau syndrome, while typical of the adult form of sarcoi

37 t of a CARD15 mutation-positive patient with Blau syndrome who exhibited interstitial lung disease, a

WebLSDに未収録の専門用語（用法）は "新規対訳" から投稿できます。