71 research outputs found

    Abnormal cut-off scores and frequency of patients with cognitive impairments.

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    <p>Abnormal cut-off scores and frequency of patients with cognitive impairments.</p

    Performances in cognitive scores and ECAS time of ALS patients and healthy controls.

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    <p>Performances in cognitive scores and ECAS time of ALS patients and healthy controls.</p

    Correlations between the scores of ECAS and other neuropsychological tests.

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    <p>Correlations between the scores of ECAS and other neuropsychological tests.</p

    Characteristics of participants: ALS patients and healthy controls.

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    <p>Characteristics of participants: ALS patients and healthy controls.</p

    Amendments in the Chinese version compared to the original English version.

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    <p>Amendments in the Chinese version compared to the original English version.</p

    Table_1_Simultaneous genotyping for human platelet antigen systems and HLA-A and HLA-B loci by targeted next-generation sequencing.xlsx

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    In order to treat the alloimmunization platelet transfusion refractoriness (PTR), human leukocyte antigen (HLA)-type and/or human platelet antigen (HPA)-type matched platelets between donors and patients are usually used. Therefore, genotyping of HLA-A and HLA-B loci, as well as HPA systems, for donors and patients, is of great significance. However, there is a rare report of genotyping for HLA-A and HLA-B loci as well as HPA systems at the same time. In this study, a high-throughput method for simultaneous genotyping of HLA-A and HLA-B loci, as well as HPA genotyping, was developed. A RNA capture probe panel was designed covering all exon sequences of the GP1BA, GP1BB, ITGA2, CD109, ITGB3, and ITGA2B genes and HLA-A and HLA-B loci. The HLA-A, HLA-B, and 34 HPA systems were genotyped using a targeted next-generation sequencing (NGS) method. The genotypes of the HLA-A and HLA-B loci, as well as the HPA, were assigned based on the nucleotides in the polymorphism sites. Using the NGS method, 204 unrelated blood specimens were successfully genotyped for all 34 HPA systems as well as HLA-A and HLA-B loci. The accuracy of the NGS method was 100%. Only HPA-2, HPA-3, HPA-5, HPA-6w, HPA-15, and HPA-21w showed polymorphism with frequencies of 0.9412, 0.6863, 0.9853, 0.9779, 0.4314, and 0.9951 for a allele, respectively. Thirty-two single nucleotide variants (SNVs) were detected. Of them, 12 SNVs can lead to amino acid change. HLA-A*11:01 and HLA-B*46:01 are the most common alleles for HLA-A and HLA-B loci. A targeted next-generation sequencing method for simultaneously genotyping HPA systems and HLA-A and HLA-B loci was first established, which could be used to create a database of HLA-typed and/or HPA-typed unrelated donors.</p

    Table_2_Simultaneous genotyping for human platelet antigen systems and HLA-A and HLA-B loci by targeted next-generation sequencing.docx

    No full text
    In order to treat the alloimmunization platelet transfusion refractoriness (PTR), human leukocyte antigen (HLA)-type and/or human platelet antigen (HPA)-type matched platelets between donors and patients are usually used. Therefore, genotyping of HLA-A and HLA-B loci, as well as HPA systems, for donors and patients, is of great significance. However, there is a rare report of genotyping for HLA-A and HLA-B loci as well as HPA systems at the same time. In this study, a high-throughput method for simultaneous genotyping of HLA-A and HLA-B loci, as well as HPA genotyping, was developed. A RNA capture probe panel was designed covering all exon sequences of the GP1BA, GP1BB, ITGA2, CD109, ITGB3, and ITGA2B genes and HLA-A and HLA-B loci. The HLA-A, HLA-B, and 34 HPA systems were genotyped using a targeted next-generation sequencing (NGS) method. The genotypes of the HLA-A and HLA-B loci, as well as the HPA, were assigned based on the nucleotides in the polymorphism sites. Using the NGS method, 204 unrelated blood specimens were successfully genotyped for all 34 HPA systems as well as HLA-A and HLA-B loci. The accuracy of the NGS method was 100%. Only HPA-2, HPA-3, HPA-5, HPA-6w, HPA-15, and HPA-21w showed polymorphism with frequencies of 0.9412, 0.6863, 0.9853, 0.9779, 0.4314, and 0.9951 for a allele, respectively. Thirty-two single nucleotide variants (SNVs) were detected. Of them, 12 SNVs can lead to amino acid change. HLA-A*11:01 and HLA-B*46:01 are the most common alleles for HLA-A and HLA-B loci. A targeted next-generation sequencing method for simultaneously genotyping HPA systems and HLA-A and HLA-B loci was first established, which could be used to create a database of HLA-typed and/or HPA-typed unrelated donors.</p

    Distribution and polymorphism of 191 white clover SSRs based on number of repeat units (i

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    E. 2 = di-, 3 = tri, 6 = hexa- nucleotide repeats). The polymorphism was tested in GA43, SRVR, and six Fprogeny.<p><b>Copyright information:</b></p><p>Taken from "Genome-wide identification of microsatellites in white clover (L.) using FIASCO and phpSSRMiner"</p><p>http://www.plantmethods.com/content/4/1/19</p><p>Plant Methods 2008;4():19-19.</p><p>Published online 16 Jul 2008</p><p>PMCID:PMC2517061.</p><p></p

    PCR products using selected primers of precipitated DNA from SSR-enriched libraries

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    A 1 kb molecular size standard was loaded on each side and in the middle of the gel. A total of 3 μl of PCR products were loaded in each lane to evaluate the primer combinations (all four primers vs. three primer combinations of -A, -T, -C, or -G) showing the least duplication (bands) of PCR products. The primer combinations without -C and -G were selected to generate the SSR-enriched libraries.<p><b>Copyright information:</b></p><p>Taken from "Genome-wide identification of microsatellites in white clover (L.) using FIASCO and phpSSRMiner"</p><p>http://www.plantmethods.com/content/4/1/19</p><p>Plant Methods 2008;4():19-19.</p><p>Published online 16 Jul 2008</p><p>PMCID:PMC2517061.</p><p></p

    Optineurin mutations in patients with sporadic amyotrophic lateral sclerosis in China

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    <p>The purpose of this study was to assess the frequency of optineurin (<i>OPTN</i>) mutation in amyotrophic lateral sclerosis (ALS) patients from mainland China, as well as to characterize the relationship between <i>OPTN</i> mutation and clinical phenotypes. We examined the coding region of <i>OPTN</i> in 511 unrelated Chinese sporadic ALS (SALS) subjects and 204 healthy controls using a PCR direct sequencing strategy. Nine <i>OPTN</i> variants were identified, of which four were novel missense mutations: c.407C > T (p.A136V), c.1184A > G (p.K395R), c.1352T > C (p.I451T), and c.1546G > C (p.E516Q) (all heterozygous). The remaining five variants were already present in single nucleotide polymorphism databases. Patients with <i>OPTN</i> mutations were characterized by spinal onset, although they showed differences in disease progression. In conclusion, this study provides a genetic epidemiological characterization of <i>OPTN</i> mutations in Chinese patients, and our results are consistent with the proposition that such mutations are common in Asian populations.</p
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