ライフサイエンスコーパス: MWS

1 The proportion of participants with abnormal MWS and abnormal LV diastolic relaxation showed step-wis

2 Collectively, although GS, DA5, and MWS have traditionally been considered separate disorder

3 To identify the genes for FCAS and MWS, we screened exons in the 1q44 region for mutations

4 IAS1/PYPAF1 gene are associated with FCU and MWS, and that disease severity and clinical features may

5 % sequence similarities to the gecko RH2 and MWS pigment genes, respectively, but it shows 87% simila

6 Predictors of baseline MWS scores include female sex, personal history of melan

7 me 1q44, a region already implicated in both MWS and FCU.

8 ssion analyses of ancestral and contemporary MWS and LWS pigments show that single mutations S180A, H

9 relative loading sequence (late versus early MWS) on LA function.

10 en to characterize the genetic basis of FCU, MWS, and an overlapping disorder in French Canadian, Bri

11 es of 3 members of a family, all of whom had MWS associated with the NALP3 variant V200M (also design

12 Sensorineural deafness in MWS, and provocation of symptoms by cold in FCU, are dis

13 ose of certain "color-blind" people who lack MWS pigments, which are maximally sensitive to 530 nm.

14 m absorbance, lambdamax 428-430 nm), medium (MWS; lambdamax 496 nm), and long wavelengths of light (L

15 Despite the absence of MWS opsin expression in newborn retinal cultures, there

16 tense acute-phase response characteristic of MWS.

17 evelopmental context reflects inheritance of MWS and may underlie some sex-dependent, non-neural char

18 The remarkable response of MWS to anakinra suggests that IL-1beta has a fundamental

19 The segregation of MWS and SWS cones into dorsal and ventral fields in the

20 inical features overlapping some of those of MWS and FCU.

21 nstrated increased late/early ejection-phase MWS and reduced LA function.

22 that included early and late ejection-phase MWS as independent correlates of LA function, late systo

23 The ratio of late/early ejection-phase MWS time integrals was computed as an index of late syst

24 Greater levels of late/early ejection-phase MWS were associated with reduced LA conduit, reservoir,

25 vent Scale (RIES), the Melanoma Worry Scale (MWS), the Hospital Anxiety and Depression Scale, and the

26 e expression of middle wavelength-sensitive (MWS) and short wavelength-sensitive (SWS) opsins in cone

27 ion and stress-corrected midwall shortening (MWS) from Group I to Group III.

28 itish/Spanish patient with apparent sporadic MWS, and in matched population controls.

29 as also present in the subject with sporadic MWS.

30 olved ejection-phase myocardial wall stress (MWS).

31 sis type 5 (DA5) and Marden-Walker syndrome (MWS).

32 d urticaria (FCU) and Muckle-Wells syndrome (MWS) are dominantly inherited autoinflammatory disorders

33 lar syndrome, 12 with Muckle-Wells syndrome (MWS), 18 with familial cold-induced autoinflammatory syn

34 tory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal onset multisystem inflammatory diseas

35 inflammatory diseases Muckle-Wells syndrome (MWS), familial cold autoinflammatory syndrome (FCAS), an

36 Muckle-Wells syndrome (MWS; MIM 191900), which also maps to chromosome 1q44, is

37 the hZeb2 locus cause Mowat-Wilson syndrome (MWS), a genetic disorder that is associated with mental

38 ve been implicated in Mowat-Wilson syndrome (MWS), characterized by severe mental retardation and age

39 ssociated with lower, whereas early systolic MWS was associated with greater LA function, indicating

40 ent correlates of LA function, late systolic MWS was associated with lower, whereas early systolic MW

41 nce characterized by prominent late systolic MWS was independently associated with atrial dysfunction

42 ntional rods were not observed, although the MWS photoreceptor may be a "transmuted" rod.

43 ra hircus), and human (Homo sapiens);and the MWS pigments of cave fish, gecko (Gekko gekko), mouse (M

44 arithm of odds scores for 5 markers from the MWS/FCU region were obtained in this family, and the dis

45 However, the MWS opsin, identified by polyclonal antibody JH492, was

46 he molecular basis of spectral tuning in the MWS and LWS pigments during vertebrate evolution.

47 Changes in the MWS and new melanoma RIES scores.

48 the regional and temporal development of the MWS and SWS opsins was affected in these experiments.

49 9 (82%) DA5-affected families and one of two MWS-affected families.

50 ckle-Wells syndrome/familial cold urticaria (MWS/FCU) locus on distal chromosome 1q44.

51 affected members of the British family with MWS, in 2 of the 50 subjects with uncharacterized period

52 three families with FCAS and one family with MWS.

53 blockade may be therapeutic in patients with MWS.

54 mmatory syndrome (FCAS), and 3 probands with MWS/FCAS.