ライフサイエンスコーパス: wolfram

1 cal CAs that parallels the 4-class system of Wolfram.

2 Upon exposure to experimental ER stress, Wolfram beta-cells showed impaired insulin processing an

3 st extensive introductions to the use of the Wolfram Language to tackle such problems in bioinformati

4 loss were diagnosed with autosomal dominant Wolfram-like syndrome (adWLS).

5 Wolfram patients had lower fractional anisotropy and hig

6 In this quick guide, Wolfram Schultz provides an introduction of reward predi

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

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

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

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

11 Wolfram syndrome (WS) is a progressive neurodegenerative

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

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

14 Wolfram syndrome 1 (WFS1) single nucleotide polymorphism

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

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

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

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

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

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

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

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

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

24 Wolfram syndrome is a rare autosomal recessive genetic d

25 Wolfram syndrome is an autosomal recessive disorder caus

26 Wolfram syndrome is an autosomal recessive disorder char

27 Wolfram syndrome is an autosomal recessive disorder char

28 Wolfram syndrome is an autosomal recessive neuro-degener

29 Wolfram syndrome is an autosomal-recessive disorder char

30 Wolfram syndrome is defined by juvenile diabetes mellitu

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

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

33 Heterozygotes for other Wolfram syndrome mutations generally have normal hearing

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

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

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

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

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

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

40 Wolfram syndrome was originally described as a combinati

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

42 Wolfram syndrome, an autosomal recessive disorder charac

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

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

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

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

47 rs genetically and clinically from recessive Wolfram syndrome.

48 in is a primary neuropathological feature of Wolfram syndrome.

49 nsulin-producing cells from individuals with Wolfram syndrome.

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

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

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

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