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  1. Article ; Online: Analysis of clinical characteristics and treatment efficacy in two pediatric cases of

    Pang, Congfei / Wu, Xiaomei / Nikuze, Lauriane / Wei, Hongying

    Platelets

    2023  Volume 34, Issue 1, Page(s) 2262607

    Abstract: ... ...

    Abstract ANKRD26
    MeSH term(s) Humans ; Infant ; Benzoates/therapeutic use ; Hydrazines/therapeutic use ; Intercellular Signaling Peptides and Proteins/genetics ; Mutation ; Purpura, Thrombocytopenic, Idiopathic/diagnosis ; Purpura, Thrombocytopenic, Idiopathic/genetics ; Purpura, Thrombocytopenic, Idiopathic/therapy ; Thrombocytopenia/etiology ; Thrombocytopenia/genetics ; Treatment Outcome
    Chemical Substances ANKRD26 protein, human ; Benzoates ; Hydrazines ; Intercellular Signaling Peptides and Proteins
    Language English
    Publishing date 2023-10-18
    Publishing country England
    Document type Journal Article
    ZDB-ID 1034283-7
    ISSN 1369-1635 ; 0953-7104
    ISSN (online) 1369-1635
    ISSN 0953-7104
    DOI 10.1080/09537104.2023.2262607
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2888: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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  2. Article ; Online: Identification of two novel mutations in three children with congenital factor VII deficiency.

    Liang, Kairong / Nikuze, Lauriane / Zhang, Fuyong / Lu, Zhengjing / Wei, Manlv / Wei, Hongying

    Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis

    2021  Volume 32, Issue 5, Page(s) 340–343

    Abstract: Congenital factor VII deficiency (FVIID) is a rare F7 gene mutation causing bleeding disorder inherited in an autosomal recessive manner. In this study, we aimed to identify genetic defects and analyze their relationships with phenotype in three Chinese ... ...

    Abstract Congenital factor VII deficiency (FVIID) is a rare F7 gene mutation causing bleeding disorder inherited in an autosomal recessive manner. In this study, we aimed to identify genetic defects and analyze their relationships with phenotype in three Chinese FVIID patients. The diagnosis of FVIID was made based on FVII coagulant activity (FVII:C) levels assessed through prothrombin time assay. Direct sequencing and protein modeling were performed to detect genetic mutations and the resulting protein expression. Patient 1, a 2-year-old girl, presented with mild bleeding and was found to have a FVII:C of 0.2% and a compound heterozygous F7 Cys389Gly/Cys115Arg mutation. Patient 2, a 7-year-old boy, consulted for moderate bleeding and was found to have a FVII:C of 0.8% and a compound heterozygous F7 Thr241Asn/Pro324Leu mutation. Patient 3, a 5-year-old boy who developed a mild bleeding after trauma was found to have a FVII:C of 1.8% and a compound heterozygous F7 Thr241Asn/ IVS5-2A>G mutation. We hereby report three congenital FVIID patients with FVII:C less than 2% and their respective F7 mutations, two of which (F7 Cys115Arg, Pro324Leu) are novel. The molecular model analysis of the two novel mutations F7 Cys115Arg and Pro324Leu respectively indicated impairment of the proper folding of epidermal growth factor 1 domain situated on F7 gene and impairment of the procoagulant function of FVII both leading to the congenital deficiency of FVII.
    MeSH term(s) Child ; Child, Preschool ; Factor VII/chemistry ; Factor VII/genetics ; Factor VII Deficiency/congenital ; Factor VII Deficiency/genetics ; Female ; Humans ; Male ; Models, Molecular ; Mutation ; Point Mutation ; Protein Conformation
    Chemical Substances Factor VII (9001-25-6)
    Language English
    Publishing date 2021-02-15
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 1033551-1
    ISSN 1473-5733 ; 0957-5235
    ISSN (online) 1473-5733
    ISSN 0957-5235
    DOI 10.1097/MBC.0000000000001022
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2920: Show issues Location:
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  3. Article ; Online: Clinical and molecular characteristics of Wiskott-Aldrich Syndrome in five unrelated Chinese families.

    Jiang, Jiali / Zhou, Junli / Wei, Manlv / Singh, Sanjeev / Nikuze, Lauriane / Huang, Lifang / Li, Yuping / Jiang, Jinxia / Wei, Hongying

    Scandinavian journal of immunology

    2021  Volume 95, Issue 1, Page(s) e13115

    Abstract: Wiskott-Aldrich syndrome (WAS) also called the eczema-thrombocytopenia-immunodeficiency syndrome is a primary immunodeficiency disease with X-linked recessive inheritance caused by mutations in the WAS protein (WASp) gene and characterized by ... ...

    Abstract Wiskott-Aldrich syndrome (WAS) also called the eczema-thrombocytopenia-immunodeficiency syndrome is a primary immunodeficiency disease with X-linked recessive inheritance caused by mutations in the WAS protein (WASp) gene and characterized by thrombocytopenia with reduced platelet volume, eczema, immunodeficiency, and increased risk of malignant tumours. The mutations will lead to separate WAS severity which can be typical severe 'classical' WAS or less severe 'non-classical' WAS. This article will review and analyse clinical and immune characteristics of five unrelated Chinese families harbouring classical and non-classical WAS. The expression of WASp was detected in the peripheral blood monocytes (PBMC) by flow cytometry, and five mutations were found by WAS gene sequencing, one of which had not been reported in the literature, namely frameshift mutation c.1240_1247delCCACTCCC (p. P414Sfs*41).
    MeSH term(s) China ; DNA Mutational Analysis ; Eczema ; Family ; Female ; Humans ; Infant ; Leukocytes, Mononuclear/immunology ; Leukocytes, Mononuclear/metabolism ; Male ; Mean Platelet Volume ; Mutation/genetics ; Thrombocytopenia ; Wiskott-Aldrich Syndrome/genetics ; Wiskott-Aldrich Syndrome/immunology ; Wiskott-Aldrich Syndrome Protein/genetics
    Chemical Substances WAS protein, human ; Wiskott-Aldrich Syndrome Protein
    Language English
    Publishing date 2021-11-16
    Publishing country England
    Document type Journal Article
    ZDB-ID 120476-2
    ISSN 1365-3083 ; 0300-9475
    ISSN (online) 1365-3083
    ISSN 0300-9475
    DOI 10.1111/sji.13115
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 806: Show issues Location:
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  4. Article: Identification of novel pathogenic F13A1 mutation and novel NBEAL2 gene missense mutation in a pedigree with hereditary congenital factor XIII deficiency

    Jia, Siyuan / Yunyan He / Meirong Lu / Ning Liao / Yonghong Lei / Nikuze Lauriane / Kairong Liang / Hongying Wei

    Gene. 2019 June 20, v. 702

    2019  

    Abstract: The genetic defects of a 12-year-old patient with factor XIII deficiency (FXIIID) and eight pedigree members suspected with FXIIID were studied. Clinical diagnosis, pedigree investigation, phenotypic study and genetic analysis were performed. DNA ... ...

    Abstract The genetic defects of a 12-year-old patient with factor XIII deficiency (FXIIID) and eight pedigree members suspected with FXIIID were studied. Clinical diagnosis, pedigree investigation, phenotypic study and genetic analysis were performed. DNA sequence analysis revealed that the proband had a novel deletion mutation of F13A1 gene (NM_000129: exon 12: c.1652delC: p.Thr551LysfsTer26) which he inherited from both the parents who were heterozygous for the same 1652delC deletion. This frameshift (p.Thr551LysfsTer26) led in homozygous form to severe FXIIID. Additionally, a homozygous missense mutation of NBEAL2 gene (NM_015175: exon 13: c.1367C > T: p.Ala456Val) was identified in the proband. Again, the mutation was inherited from both the parents who were heterozygous for the same c.1367C > T novel mutation. Other members of the pedigree were also revealed to be heterozygous for the same proband's F13A1 and NBEAL2 genes mutations. We first report a pedigree with pathogenic F13A1 gene mutation and a novel mutant NBEAL2 gene.
    Keywords DNA ; exons ; genetic analysis ; genetic disorders ; heterozygosity ; homozygosity ; inheritance (genetics) ; missense mutation ; mutants ; parents ; patients ; pedigree ; phenotype ; sequence analysis ; sequence deletion
    Language English
    Dates of publication 2019-0620
    Size p. 143-147.
    Publishing place Elsevier B.V.
    Document type Article
    ZDB-ID 391792-7
    ISSN 1879-0038 ; 0378-1119
    ISSN (online) 1879-0038
    ISSN 0378-1119
    DOI 10.1016/j.gene.2019.03.067
    Database NAL-Catalogue (AGRICOLA)

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    In stock of ZB MED Bonn / Germany

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  5. Article ; Online: Spectrum of β-Thalassemia Mutations in Some Areas of Guangxi Zhuang Autonomous Region of Southern China: A Study on a Pediatric Population Aged 0-15 Years.

    Huang, Li-Fang / Yu, Li-Li / Nikuze, Lauriane / Singh, Sanjeev / Jiang, Jin-Xia / Jiang, Jia-Li / Li, Yu-Ping / Qin, Yu-Hui / Wei, Hong-Ying

    Hemoglobin

    2022  Volume 45, Issue 5, Page(s) 318–321

    Abstract: β-Thalassemia (β-thal), one of the most common form of single-gene inheritable blood diseases in the world, is highly prevalent in southern China, especially in the Guangxi Zhuang Autonomous Region. To update the β-thal mutation spectrum in this region, ... ...

    Abstract β-Thalassemia (β-thal), one of the most common form of single-gene inheritable blood diseases in the world, is highly prevalent in southern China, especially in the Guangxi Zhuang Autonomous Region. To update the β-thal mutation spectrum in this region, we performed hematological and genetic analyses on 888 β-thal major (β-TM), β-thal intermedia (β-TI) and β-thal carrier patients, aged 0-15 years old, from different parts of Guangxi Province. We identified 55 genotypes and 18 β-thal mutations. The codons 41/42 (-TTCT) (
    MeSH term(s) Adolescent ; Child ; Child, Preschool ; China/epidemiology ; Codon ; Gene Frequency ; Genotype ; Humans ; Infant ; Infant, Newborn ; Mutation ; beta-Globins/genetics ; beta-Thalassemia/epidemiology ; beta-Thalassemia/genetics
    Chemical Substances Codon ; beta-Globins
    Language English
    Publishing date 2022-05-06
    Publishing country England
    Document type Journal Article
    ZDB-ID 750615-6
    ISSN 1532-432X ; 0363-0269
    ISSN (online) 1532-432X
    ISSN 0363-0269
    DOI 10.1080/03630269.2022.2041435
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1345: Show issues Location:
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  6. Article ; Online: Identification of one novel pathogenic

    Lu, Zhengjing / Nikuze, Lauriane / Zhong, Zhoulin / Li, Fang / Zhang, Fuyong / Liang, Kairong / Wei, Manlv / Wei, Hongying

    Platelets

    2019  Volume 31, Issue 3, Page(s) 355–359

    Abstract: Glanzmann thrombasthenia (GT) is an inherited disorder of platelet aggregation resulting from quantitative and/or qualitative abnormalities of the glycoprotein IIb/IIIa complex. We analyzed the expression of GPIIb/IIIa and the gene sequencing in two ... ...

    Abstract Glanzmann thrombasthenia (GT) is an inherited disorder of platelet aggregation resulting from quantitative and/or qualitative abnormalities of the glycoprotein IIb/IIIa complex. We analyzed the expression of GPIIb/IIIa and the gene sequencing in two pedigrees with GT, so as to determine the type and the relationship between genotype and clinical phenotype. Platelet aggregation tests and flow cytometric studies were performed, along with gene sequencing. Both probands were classified as grade III of bleeding. Platelet aggregation was absent or defective upon stimulation with physiological stimuli like AA and ADP, but platelets agglutinated normally in response to ristocetin. MFI values were considerably reduced. Gene sequencing showed
    MeSH term(s) Alleles ; Biomarkers ; Blood Platelets/metabolism ; DNA Mutational Analysis ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genotype ; Humans ; Immunophenotyping ; Integrin beta3/chemistry ; Integrin beta3/genetics ; Models, Molecular ; Mutation ; Pedigree ; Phenotype ; Platelet Aggregation/genetics ; Platelet Function Tests ; Platelet Glycoprotein GPIIb-IIIa Complex/metabolism ; Protein Conformation ; Structure-Activity Relationship ; Thrombasthenia/diagnosis ; Thrombasthenia/genetics
    Chemical Substances Biomarkers ; ITGB3 protein, human ; Integrin beta3 ; Platelet Glycoprotein GPIIb-IIIa Complex
    Language English
    Publishing date 2019-05-14
    Publishing country England
    Document type Journal Article
    ZDB-ID 1034283-7
    ISSN 1369-1635 ; 0953-7104
    ISSN (online) 1369-1635
    ISSN 0953-7104
    DOI 10.1080/09537104.2019.1615614
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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