ライフサイエンスコーパス: Wolfram 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 rs genetically and clinically from recessive Wolfram syndrome.

2 nsulin-producing cells from individuals with Wolfram syndrome.

3 ing in a monogenic form of diabetes known as Wolfram syndrome.

4 nt diabetes mellitus, the central feature of Wolfram syndrome.

5 in WFS1, the gene for recessively inherited Wolfram syndrome.

6 in is a primary neuropathological feature of Wolfram syndrome.

7 have previously shown that mutations in the Wolfram syndrome 1 (WFS1) gene cause Wolfram syndrome an

8 l nonsynonymous variant (p.Trp314Arg) in the Wolfram syndrome 1 (WFS1) gene that segregates completel

9 Wolfram syndrome 1 (WFS1) single nucleotide polymorphism

10 SD2, which codes for Miner1, is causative in Wolfram Syndrome 2 (WFS2) resulting in early onset optic

11 he type II diabetes-related mitoNEET and the Wolfram syndrome 2-linked Miner1.

12 In Wolfram syndrome, a rare form of juvenile diabetes, panc

13 Wolfram syndrome, an autosomal recessive disorder charac

14 gion includes WFS1, the gene responsible for Wolfram syndrome, an autosomal recessive disorder charac

15 Studies of patients with Wolfram syndrome and carriers have identified Wfs1 mutat

16 plays a central role in beta-cell failure in Wolfram syndrome and indicate that chemical chaperones m

17 c relevance under conditions of ER stress in Wolfram syndrome and other forms of diabetes.

18 in the Wolfram syndrome 1 (WFS1) gene cause Wolfram syndrome and that WFS1 has a protective function

19 associated with Mendelian disorders, such as Wolfram syndrome, and complex diseases, including amyotr

20 We have investigated 12 U.K. families with Wolfram syndrome, and we report confirmation of linkage

21 ) and in 8 patients with autosomal recessive Wolfram syndrome (arWS) associated with diabetes mellitu

22 ctionally different from the known recessive Wolfram syndrome-causing mutations, as they tend to aggr

23 Wolfram syndrome (DIDMOAD syndrome; MIM 222300) is an au

24 the prevalence of heterozygous carriers for Wolfram syndrome estimated at 0.3-1%.

25 ient mice and lymphocytes from patients with Wolfram syndrome exhibited dysregulated ER stress signal

26 se results indicate that the pathogenesis of Wolfram syndrome involves chronic ER stress in pancreati

27 Wolfram syndrome is a rare autosomal recessive genetic d

28 Wolfram syndrome is an autosomal recessive disorder caus

29 Wolfram syndrome is an autosomal recessive disorder char

30 Wolfram syndrome is an autosomal recessive disorder char

31 Wolfram syndrome is an autosomal recessive neuro-degener

32 Wolfram syndrome is an autosomal-recessive disorder char

33 Wolfram syndrome is defined by juvenile diabetes mellitu

34 ffected families indicated that the gene for Wolfram syndrome is on chromosome 4p, and it produced no

35 smic reticulum stress-related dysfunction in Wolfram syndrome may interact with the development of my

36 Heterozygotes for other Wolfram syndrome mutations generally have normal hearing

37 ce imaging in children and young adults with Wolfram syndrome (n = 21) and healthy and diabetic contr

38 se measures may provide objective indices of Wolfram syndrome pathophysiology that will be useful in

39 ed by DFNA38 is more severe than deafness of Wolfram syndrome patients and lacks any syndromic featur

40 published postmortem studies, indicate that Wolfram syndrome should be reemphasized as a unique here

41 ith an overlapping phenotype suggesting that Wolfram syndrome type 1 and type 2 form a continuous cli

42 described in a small number of families with Wolfram syndrome type 2 (WFS2).

43 Rare mutations in WFS1 cause Wolfram syndrome; using a gene-centric approach, we show

44 tion may contribute to the pathology seen in Wolfram syndrome via reductions in sodium pump alpha1 an

45 Wolfram syndrome was originally described as a combinati

46 nguineous families of Jordanian descent with Wolfram syndrome (WFS).

47 Wolfram syndrome (WS) is a progressive neurodegenerative

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。