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 or decreasing volumes (cortex), whereas the Wolfram group had decreased volume in thalamus and cereb

4 creasing volume in white matter, whereas the Wolfram group had stable (optic radiations) or decreasin

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

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

7 peptide chain, with the latter incorporating Wolfram mathematical computation.

8 dinal analyses, we compared brain volumes in Wolfram patients (n = 29; ages 5-25 at baseline; mean fo

9 Wolfram patients had lower fractional anisotropy and hig

10 In a recent study by Wolfram-Schauerte et al. these ubiquitous bacteria-infec

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

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

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

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

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

16 Wolfram syndrome (WS) is a heterogeneous multisystem neu

17 Wolfram syndrome (WS) is a progressive neurodegenerative

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

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

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

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

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

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

24 Wolfram syndrome 1 (WFS1) single nucleotide polymorphism

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

41 The Wolfram syndrome is a rare autosomal recessive disease a

42 Wolfram syndrome is a rare autosomal recessive genetic d

43 Wolfram syndrome is a rare disease caused by mutations i

44 Wolfram syndrome is a rare genetic spectrum disorder cha

45 Wolfram syndrome is a rare multisystem disease character

46 Wolfram syndrome is an autosomal recessive disorder caus

47 Wolfram syndrome is an autosomal recessive disorder char

48 Wolfram syndrome is an autosomal recessive neuro-degener

49 Wolfram syndrome is an autosomal-recessive disorder char

50 Wolfram syndrome is defined by juvenile diabetes mellitu

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

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

53 Heterozygotes for other Wolfram syndrome mutations generally have normal hearing

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

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

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

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

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

62 Wolfram syndrome was originally described as a combinati

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

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

65 Wolfram syndrome, an autosomal recessive disorder charac

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

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

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

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

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

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

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

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

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

75 rs genetically and clinically from recessive Wolfram syndrome.

76 in is a primary neuropathological feature of Wolfram syndrome.

77 nsulin-producing cells from individuals with Wolfram syndrome.

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

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

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

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

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

83 ng the aberrant neurobiological processes in Wolfram syndrome.

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

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