ライフサイエンスコーパス: ADCA

1 ADCA-DN and HSN-IE are rare neurodegenerative syndromes

2 cancer in 181 tissue samples (31 MPM and 150 ADCA).

3 A training set of 32 samples (16 MPM and 16 ADCA) was used to identify pairs of genes with highly si

4 iate 7-aminodeacetoxycephalosporanic acid (7-ADCA).

5 les exhibited the expected core signals of 7-ADCA and could be quantified, while the degraded samples

6 leural mesothelioma (MPM)and adenocarcinoma (ADCA) of the lung can be cumbersome using established me

7 lung cancer (SCLC) and lung adenocarcinoma (ADCA) exhibit unique immune cell composition of the tumo

8 Ms, from a control pulmonary adenocarcinoma (ADCA), and from normal lung tissue.

9 CAs) constituted one group, adenocarcinomas (ADCAs) clustered separately, and one signet-ring carcino

10 e SCA2 mutation is the most frequent amongst ADCA I patients, accounting for 40%, compared with SCA1

11 hese neurological signs were also seen in an ADCA I family in which the SCA2 mutation was not identif

12 HSAN IE and ADCA-DN are two extreme phenotypic manifestations of a D

13 ype of autosomal dominant cerebellar ataxia (ADCA) in which pure cerebellar ataxia is often accompani

14 s with autosomal dominant cerebellar ataxia (ADCA) types I, II and III, and 47 isolated cases with id

15 ype of autosomal dominant cerebellar ataxia (ADCA).

16 ly of autosomal dominant cerebellar ataxias (ADCA), a genetically heterogeneous group of neurodegener

17 The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous gr

18 The dominant cerebellar ataxias (ADCAs) represent a clinically and genetically heterogene

19 of DNMT1 mutations in fibroblasts from four ADCA-DN and two HSN-IE patients.

20 henotype, but in none of those with ADCA II, ADCA III or ILOCA confirms the specificity of this mutat

21 ochondrial dysfunction was first observed in ADCA-DN.

22 t the differential diagnoses of MPM and lung ADCA were 95% and 99% accurate, respectively.

23 ding of reduced CD8(+) content in human lung ADCA.

24 wledge of the immune cell contexture of lung ADCA and SCLC and suggest that molecular and histologica

25 mune cell content using three models of lung ADCA driven by mutations in Kras, p53, and Egfr Although

26 markedly reduced in SCLC compared with lung ADCA, which was validated in human lung cancer specimens

27 t cerebellar ataxia-deafness and narcolepsy (ADCA-DN) disorder.

28 cerebellar ataxia, deafness and narcolepsy (ADCA-DN).

29 cerebellar ataxia, deafness and narcolepsy (ADCA-DN).

30 genes associated with clinical phenotypes of ADCA-DN, including PDGFB and PRDM8 for cerebellar ataxia

31 oms is required for the complex treatment of ADCA.

32 Phenotypic characterization pinpoints that ADCA-DN and HSAN IE represent two discrete clinical enti

33 ma was in its own cluster, distinct from the ADCA cluster.

34 A clinical comparison of the ADCA I patients with the three known mutations (SCA1, -2

35 2 mutation in 31 out of 38 families with the ADCA I phenotype, but in none of those with ADCA II, ADC

36 The utility of genetic classification of the ADCAs has been highlighted by the striking variability i

37 constitute >40% of the mutations leading to ADCA I in our population.

38 T1 and the molecular changes associated with ADCA-DN, with potential implications for genes associate

39 SCA2 accounts for 13% of patients with ADCA (without retinal degeneration), intermediate betwee

40 d neurons (iNs) generated from patients with ADCA-DN and controls, to explore the epigenomic and tran

41 ited upregulated expression in patients with ADCA-DN in both iPSC and iNs.

42 cting exon 21 of DNMT1 gene in patients with ADCA-DN, a novel heterozygous point mutation in exon 20

43 ADCA I phenotype, but in none of those with ADCA II, ADCA III or ILOCA confirms the specificity of t