ライフサイエンスコーパス: Wolfram syndrome

1 ell as genetic forms of diabetes, especially Wolfram syndrome.

2 rs genetically and clinically from recessive Wolfram syndrome.

3 in is a primary neuropathological feature of Wolfram syndrome.

4 nsulin-producing cells from individuals with Wolfram syndrome.

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

6 s under chronic ER stress, as is the case in Wolfram syndrome.

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

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

9 els are also increased in some patients with Wolfram syndrome.

10 ng the aberrant neurobiological processes in Wolfram syndrome.

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

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

13 Wolfram syndrome 1 (WFS1) single nucleotide polymorphism

14 ted to pathogenic variants in a single gene, Wolfram syndrome 1 (WFS1).

15 Wolfram syndrome 1 (WS1) is a rare genetic disorder caus

16 Wolfram syndrome 1 (WS1) is a rare genetic disorder caus

17 gated, and no definitive therapies exist for Wolfram syndrome 1.

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

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

20 elevated in cell culture and mouse models of Wolfram syndrome, a prototype of ER stress-induced diabe

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

22 Wolfram syndrome, an autosomal recessive disorder charac

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

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

25 rovide insight into the disease mechanism of Wolfram syndrome and highlight new targets and drug cand

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

27 neonatal DM, and syndromic diabetes such as Wolfram syndrome and lipodystrophy.

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

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

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

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

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

33 rently is no disease-modifying treatment for Wolfram syndrome, as the molecular consequences of the l

34 potential therapeutic strategy for treating Wolfram syndrome by efficiently boosting MAM function us

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

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

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

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

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

40 The Wolfram syndrome is a rare autosomal recessive disease a

41 Wolfram syndrome is a rare autosomal recessive genetic d

42 Wolfram syndrome is a rare disease caused by mutations i

43 Wolfram syndrome is a rare genetic spectrum disorder cha

44 Wolfram syndrome is a rare multisystem disease character

45 Wolfram syndrome is an autosomal recessive disorder caus

46 Wolfram syndrome is an autosomal recessive disorder char

47 Wolfram syndrome is an autosomal recessive neuro-degener

48 Wolfram syndrome is an autosomal-recessive disorder char

49 Wolfram syndrome is defined by juvenile diabetes mellitu

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

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

52 Heterozygotes for other Wolfram syndrome mutations generally have normal hearing

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

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

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

56 None of them displayed a Wolfram syndrome presentation even though some features

57 o delay, halt, or reverse the progression of Wolfram syndrome, raising the urgency for innovative the

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

59 reatment strategies and achieving a cure for Wolfram-syndrome-spectrum disorder.

60 al acuity decline and retinal morphometry in Wolfram syndrome to date.

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

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

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

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

65 Wolfram syndrome was originally described as a combinati

66 s mellitus is the first diagnosed symptom of Wolfram syndrome, we aimed to further examine the functi

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

68 e early, stalled white matter development in Wolfram syndrome, with additional degenerative processes

69 Wolfram syndrome (WS) is a heterogeneous multisystem neu

70 Wolfram syndrome (WS) is a progressive neurodegenerative

71 Wolfram syndrome (WS) is a rare genetic disease characte

72 Wolfram syndrome (WS) is an ultra-rare progressive neuro

73 tric disorders, which are also manifested by wolfram syndrome (WS).

74 a rare autosomal-recessive disorder known as Wolfram syndrome (WS).