戻る
「早戻しボタン」を押すと検索画面に戻ります。 [閉じる]

コーパス検索結果 (left1)

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                                              CADASIL and CAA protein profiles from recently published
2                                              CADASIL changes also induced aberrant homodimerization o
3                                              CADASIL is a genetic paradigm of cerebral small vessel d
4                                              CADASIL is a small vessel disease caused by mutations in
5                                              CADASIL pathology is characterized by vascular smooth mu
6                                              CADASIL results from mutations in Notch3 that alter the
7                                              CADASIL, an inherited SVD, alters cerebral artery functi
8                              We recruited 23 CADASIL patients (age 51.1 +/- 10.1 years, 52% women) an
9 hanced in mice expressing a vascular Notch 3 CADASIL mutation (R90C) or a Notch 3 knockout mutation.
10     We recruited 77 patients (45 sporadic/32 CADASIL) at 3 sites.
11 uences of CADASIL mutations, we engineered 4 CADASIL-like mutations into rat Notch3 and have shown th
12 antibodies avidly stained arteries in 8 of 8 CADASIL brain samples.
13 chanism by which these mutations result in a CADASIL phenotype has been widely speculated upon.
14 ar domain in mice with the C455R mutation, a CADASIL variant associated with Notch3 loss of function.
15                                          All CADASIL mutations described to date affect the epidermal
16 ms in the cerebral vessels of North American CADASIL patients with classical NOTCH3 mutations.
17 o hereditary syndromes known as Alagille and CADASIL.
18 adic brain small vessel ischemic disease and CADASIL-like Caucasian patients from US, Portugal, Finla
19 pants with sporadic small vessel disease and CADASIL.
20 ner (SHP, NROB2) gene in normal subjects and CADASIL (cerebral autosomal dominant arteriopathy with s
21 h family with hereditary MID suspected to be CADASIL has a different novel disorder with dissimilar p
22 logic overlap, the molecular overlap between CADASIL and CAA was explored.
23 counting for the overlapped proteins between CADASIL and CAA are expressed by fibroblasts.
24 ghted 19 proteins that are regulated in both CADASIL and CAA.
25 adjusting for age, sex and education in both CADASIL and heterozygous HTRA1 mutation-related CSVD gro
26 multiple brain regions was decreased in both CADASIL and heterozygous HTRA1 mutation-related CSVD pat
27 d water exchange rate across the BBB in both CADASIL and heterozygous HTRA1 mutation-related CSVD pat
28 ngation of O-fucose on Notch3 is impaired by CADASIL mutations.
29  Patients were identified from the Cambridge CADASIL register and the UK Familial stroke study.
30        Insertion of point mutants that cause CADASIL results in significantly lower activity.
31 onal nature of the Notch 3 mutations causing CADASIL and their mechanistic connection to small-vessel
32                      Compared with controls, CADASIL patients showed lower blood flow velocity and hi
33 ines suppress the impact of loss of cysteine CADASIL mutations.
34 lay hallmarks of the ischemic stroke disease CADASIL.
35 ariants in the small vessel ischemic disease-CADASIL-like cohort (p.Glu198Gln, p.Arg204Gly, p.Val251L
36        Stereotyped mutations in NOTCH3 drive CADASIL, the leading inherited cause of stroke and vascu
37 ular macrophages were greater in the English CADASIL samples compared to those from the Swedish brain
38 in the general population than expected from CADASIL prevalence and are risk factors for apparently '
39 skin biopsies confirmed that the patient had CADASIL.
40  in pathologically affected vessels of human CADASIL-affected brains.
41                                           In CADASIL no increase in blood-brain barrier permeability
42 l vessel function on 7T-MRI were abnormal in CADASIL patients, indicative of increased arteriolar sti
43  may be the primary molecular abnormality in CADASIL.
44 irst cells affected by Notch3 aggregation in CADASIL mice.
45 bserved increased staining of capillaries in CADASIL for types I, IV, and VI collagen.
46 d (residues 121-122) of NOTCH3 is cleaved in CADASIL.
47 ease of types I, III, IV, and VI collagen in CADASIL brains.
48 l influence on vascular function (eg, CVR in CADASIL vs sporadic: B = 0.0169, 95% CI -0.0247, 0.0584)
49 p80 and Asp121, were previously described in CADASIL pathological samples.
50  the cleavage product was highly enriched in CADASIL brain tissue and localized to the media of degen
51 lood-brain barrier permeability was found in CADASIL.
52  vascular collagen subtypes are increased in CADASIL in multiple layers of all sizes of arteries, wit
53 the structural changes in NOTCH3 involved in CADASIL etiology are unclear.
54 3, is a major driver of arterial SMC loss in CADASIL, paving the way for NOTCH3-lowering therapeutic
55 tion in the vascular extracellular matrix in CADASIL is a key contributor to cerebrovascular dysfunct
56 llagen accumulation in the vascular media in CADASIL.
57 ct collagen subtype distribution patterns in CADASIL.
58 udies demonstrate that the NOTCH3 protein in CADASIL is cleaved in multiple locations at labile Asp-P
59 e for structurally altered NOTCH3 protein in CADASIL tissue.
60 ese data suggest that Fringe plays a role in CADASIL pathophysiology.
61 am of Notch3(ECD) deposition, play a role in CADASIL, producing divergent influences on early CBF def
62 e, in a distribution similar to that seen in CADASIL.
63  = 1.23 x 10(-3)), and it was upregulated in CADASIL cases.
64 tructural metrics explained most variance in CADASIL and arterial pulsatility in sporadic SVD, but si
65                             Previous work in CADASIL described N-terminal proteolysis of NOTCH3 gener
66 n was used with two disease groups including CADASIL (n = 24), heterozygous HTRA1 mutation-related CS
67 ubcortical infarcts and leucoencephalopathy (CADASIL) but their genetic identities remain unknown.
68 ubcortical infarcts and leucoencephalopathy (CADASIL), an autosomal dominant cerebral arteriopathy, i
69 ubcortical infarcts and leucoencephalopathy (CADASIL), due to mutations in the NOTCH: 3 gene, is incr
70 ubcortical infarcts and leucoencephalopathy (CADASIL)and some forms of cerebral amyloid angiopathy ha
71 subcortical infarcts and leukoencephalopathy CADASIL is caused by more than a hundred NOTCH3 mutation
72 ubcortical infarcts and leukoencephalopathy (CADASIL) and an indication for antihypertensive treatmen
73 ubcortical infarcts and leukoencephalopathy (CADASIL) and cerebral amyloid angiopathy (CAA) are two d
74 ubcortical infarcts and leukoencephalopathy (CADASIL) and heterozygous HTRA1 mutation-related cerebra
75 ubcortical infarcts and leukoencephalopathy (CADASIL) are susceptible to smooth muscle loss and fibro
76 ubcortical infarcts and leukoencephalopathy (CADASIL) arises from mutations in the human gene encodin
77 ubcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease that results
78 ubcortical infarcts and leukoencephalopathy (CADASIL) is a genetically linked neurologic disease char
79 ubcortical infarcts and leukoencephalopathy (CADASIL) is a neurological syndrome characterized by sma
80 ubcortical infarcts and leukoencephalopathy (CADASIL) is a vascular dementia arising from abnormal ar
81 ubcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic form of stroke and
82 ubcortical infarcts and leukoencephalopathy (CADASIL) is thought to be a pure genetic form of subcort
83 ubcortical infarcts and leukoencephalopathy (CADASIL) syndrome of premature stroke and dementia is a
84 ubcortical infarcts and leukoencephalopathy (CADASIL), a condition caused by NOTCH3 mutations alterin
85 ubcortical infarcts and leukoencephalopathy (CADASIL), a vascular disorder caused by NOTCH3 mutations
86 ubcortical infarcts and leukoencephalopathy (CADASIL), and mitochondrial and metabolic disorders.
87 ubcortical infarcts and leukoencephalopathy (CADASIL), caused by dominant mutations in the NOTCH3 rec
88 ubcortical infarcts and leukoencephalopathy (CADASIL), including structural, quantitative microstruct
89 ubcortical infarcts and leukoencephalopathy (CADASIL), the most common inherited cerebral small vesse
90 ubcortical infarcts and leukoencephalopathy (CADASIL), the most common inherited small-vessel disease
91 ubcortical Infarcts and Leukoencephalopathy (CADASIL), to establish which aspects of cerebral small v
92 ubcortical infarcts and leukoencephalopathy (CADASIL), which is associated with mutations in the Notc
93 ubcortical infarcts and leukoencephalopathy, CADASIL), and normal controls (n = 20) were studied.
94 ubcortical infarcts and leukoencephelopathy (CADASIL) syndrome, a heritable arteriopathy predisposing
95                      In a large longitudinal CADASIL cohort, we determined whether the prognosis has
96 ve been linked to the Marfan syndrome (MFS), CADASIL, protein S deficiency, haemophilia B and familia
97 ize cleavage events at Asp121 in post-mortem CADASIL and control brain tissue and to investigate fact
98 xperiments to detect epitopes in post-mortem CADASIL brains (n=8), control brains, and cells overexpr
99 conditions involving the vasculature, namely CADASIL (cerebral autosomal dominant arteriopathy with s
100    Furthermore, we show that the activity of CADASIL mutant reporters is amplified by the application
101 Within the thickened penetrating arteries of CADASIL patients, all four collagens extended through mo
102 d vitronectin are responsible for aspects of CADASIL disease phenotypes.
103  more highly expressed in the skin biopsy of CADASIL patients compared to controls, and its expressio
104 In a large prospectively recruited cohort of CADASIL subjects we determined relationships between phe
105    To examine the functional consequences of CADASIL mutations, we engineered 4 CADASIL-like mutation
106 ntial use of kw for monitoring the course of CADASIL and heterozygous HTRA1 mutation-related CSVD, a
107 , although he has a concomitant diagnosis of CADASIL (cerebral arteriopathy, autosomal dominant, with
108 1C mutation in the NOTCH3 gene diagnostic of CADASIL.
109 eptor (Notch3ECD) are the 2 core features of CADASIL, a common cerebral small vessel disease caused b
110 ular dementia and other clinical features of CADASIL, and MRI white matter hyperintensity volume were
111 scular smooth muscle cells, is a hallmark of CADASIL and other SVDs, including diabetic retinopathy,
112 e exclusive cerebrovascular manifestation of CADASIL.
113 urs at a high level in the arterial media of CADASIL cerebral arteries.
114 ope found in degenerating vascular medium of CADASIL brains, we mapped the site of fragmentation to t
115 c (Tg)Notch3(R169C) mice, a genetic model of CADASIL, revealed functional defects in cerebral (pial)
116 ice, a well-established preclinical model of CADASIL.
117 cells may play a role in the pathogenesis of CADASIL.
118                    The clinical phenotype of CADASIL is improving.
119 t understanding of the molecular profiles of CADASIL and CAA appears to support potential for common
120 ings open opportunities for the treatment of CADASIL and other SVDs by modulating Notch3 signaling.
121                   Two-, 7-, and 12-month-old CADASIL mutant mice (TgNotch3(R169C) ) and wild-type con
122                     In a clinically relevant CADASIL mouse model, we show that exogenous ADAM17 or HB
123 is of human brain vessels, carrying the same CADASIL mutations, identified clusterin and collagen 18
124                 One hundred and twenty-seven CADASIL cases from 65 families with 17 different mutatio
125 lagen in brains obtained at autopsy from six CADASIL patients with cysteine-altering mutations in NOT
126 e causing the rare monogenic form of stroke, CADASIL (cerebral autosomal dominant arteriopathy with s
127                                 Sporadic SVD-CADASIL differences largely reflect disease severity.
128       Mutations in Notch3 cause the syndrome CADASIL (cerebral autosomal dominant arteriopathy with s
129 l infarcts and leukoencephalopathy syndrome (CADASIL), a disorder caused by NOTCH3 gene mutations exp
130                             We conclude that CADASIL arteries feature latent N-terminal NOTCH3 epitop
131                            We determine that CADASIL pathophysiology is associated with hypomorphic N
132            Based upon clinical evidence that CADASIL arteriopathy results in degeneration and loss of
133  phenotype and increases the likelihood that CADASIL joins the growing list of neurological diseases
134 cluding the mutational hot spot, showed that CADASIL mutations do not affect the addition of O-fucose
135 tch paralogs and orthologs that suggest that CADASIL mutations result in a gain of function.
136                                       In the CADASIL group, decreased kw in the whole brain (beta = -
137 iations with blood markers were found in the CADASIL group.
138 sight into how Notch 3 function is linked to CADASIL pathophysiology, we studied two phenotypically d
139                                      Typical CADASIL patients showed more frequent white matter hyper
140 nical and radiologic courses between typical CADASIL patients and SVCI patients, we constructed a W-s
141 grity and cortical thickness between typical CADASIL, a genetic form, and two sporadic forms of SVCI
142                          We enrolled typical CADASIL patients (N = 11) and SVCI patients [with NOTCH3
143                       In this study, typical CADASIL and SVCI showed distinct anatomic vulnerabilitie
144 score, p < 0.05, FDR-corrected) than typical CADASIL patients.
145  detect and quantify previously undetectable CADASIL-driven arterial SMC loss in the CNS of mice expr
146                      It is not known whether CADASIL mutations lead to loss or gain of Notch3 recepto
147 th sporadic small vessel disease and 17 with CADASIL) entered the primary efficacy analysis.
148 e (mean age 64.9 years [SD 9.9]) and 26 with CADASIL (53.1 years [7.0]) were enrolled and randomly as
149 ulation in the English family afflicted with CADASIL.
150 etic alterations present in individuals with CADASIL to a post-translational protein alteration in de
151 erall)=0.39) but did differ in patients with CADASIL (15.7 x 10(-4)%/mm Hg [SE 27.5; 95% CI -38.3 to
152 troke and vascular dementia in patients with CADASIL (cerebral autosomal dominant arteriopathy with s
153 hould be used when counselling patients with CADASIL on prognosis.
154                 A total of 555 patients with CADASIL were recruited between 2001 and 2023.
155 cal feature found in brains of patients with CADASIL, a hereditary vascular dementia associated with
156                             In patients with CADASIL, pairwise comparisons showed that CVR improved w
157 s on brain vessels of mice and patients with CADASIL.
158 ferential treatment effects in patients with CADASIL.
159 We have found that recombinant proteins with CADASIL NOTCH3 EGF domains 1 to 3 fused to the C terminu

 
Page Top