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  1. Article ; Online: A novel mutation in the ED1 gene in a patient with X-linked hypohidrotic ectodermal dysplasia.

    Wawrzynek, Alicja / Slęzak, Ryszard / Wiśniewski, Slawomir A / Trzeciak, Wieslaw H

    International journal of dermatology

    2013  Volume 52, Issue 9, Page(s) 1121–1124

    MeSH term(s) Base Sequence ; Child, Preschool ; Computer Simulation ; Ectodermal Dysplasia 1, Anhidrotic/genetics ; Ectodysplasins/chemistry ; Ectodysplasins/genetics ; Ectodysplasins/metabolism ; Family Health ; Female ; Frameshift Mutation/genetics ; Humans ; Male ; Signal Transduction/genetics
    Chemical Substances EDA protein, human ; Ectodysplasins
    Language English
    Publishing date 2013-09
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 412254-9
    ISSN 1365-4632 ; 0011-9059 ; 1461-1244
    ISSN (online) 1365-4632
    ISSN 0011-9059 ; 1461-1244
    DOI 10.1111/j.1365-4632.2011.05370.x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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  2. Article: Wykluczenia ojcostwa w świetle badań Katedry i Zakładu Medycyny Sadowej Akademii Medycznej w Poznaniu.

    Koralewska-Kordel, Małgorzata / Kordel, Krzysztof / Przybylski, Zygmunt / Wiśniewski, Sławomir A

    Archiwum medycyny sadowej i kryminologii

    2006  Volume 56, Issue 4, Page(s) 246–250

    Abstract: The study comprises the analysis of expert's hemogenetic reports carried out in the Department of Forensic Medicine, University of Medical Sciences in Poznan, in the years 1980-2004 and associated with paternity determination or exclusion. In the ... ...

    Title translation Paternity exclusion tests in the Department of Forensic Medicine, University of Medical Sciences in Poznan.
    Abstract The study comprises the analysis of expert's hemogenetic reports carried out in the Department of Forensic Medicine, University of Medical Sciences in Poznan, in the years 1980-2004 and associated with paternity determination or exclusion. In the analyzed period, the authors established 1064 cases of paternity exclusion in serological tests, 97 paternity exclusions in the HLA examinations, and 129 cases of paternity exclusions processed in DNA testing. On the base of gene frequencies, the theoretical chance of paternity exclusion was determined for every test. The significant usefulness of DNA testing in legal processes did not cause an increase in the percentage of paternity exclusions. Moreover, the authors observed a significant decrease in the number of paternity exclusions in comparison with results of serological tests (from 24.25% to 19.43%). With the drop in the number of births, the number of expert's reports significantly decreased.
    MeSH term(s) Academic Medical Centers ; DNA Fingerprinting/methods ; Forensic Medicine ; Humans ; Paternity ; Poland ; Polymorphism, Genetic ; Polymorphism, Restriction Fragment Length ; Probability ; Retrospective Studies ; Sequence Analysis, DNA/methods ; Tandem Repeat Sequences
    Language Polish
    Publishing date 2006-10
    Publishing country Poland
    Document type English Abstract ; Journal Article
    ZDB-ID 2780064-7
    ISSN 1689-1716 ; 0324-8267
    ISSN (online) 1689-1716
    ISSN 0324-8267
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Recent advances in understanding of the molecular basis of anhidrotic ectodermal dysplasia: discovery of a ligand, ectodysplasin A and its two receptors.

    Wiśniewski, Sławomir A / Kobielak, Agnieszka / Trzeciak, Wiesław H / Kobielak, Krzysztof

    Journal of applied genetics

    2002  Volume 43, Issue 1, Page(s) 97–107

    Abstract: Recent developments of the investigations on the molecular basis of anhidrotic ectodermal dysplasia are reviewed. Identification of the major product of the EDA gene (ectodysplasin A), a protein belonging to a group of TNF ligands, and molecular cloning ... ...

    Abstract Recent developments of the investigations on the molecular basis of anhidrotic ectodermal dysplasia are reviewed. Identification of the major product of the EDA gene (ectodysplasin A), a protein belonging to a group of TNF ligands, and molecular cloning of the cDNA, encoding its receptor (EDAR), a member of the TNF receptor family, are presented. The role of an alternative EDA receptor, localised on the X chromosome (XEDAR) in the developmental control of the differentiation of skin appendages, is discussed. Recent findings have elucidated the cause of the autosomal forms of EDA, both dominant and recessive, and indicated an important role of a signal transduction pathway involving a protein product of the NEMO gene and the transcription factor NFkappaB in the differentiation of skin appendages.
    MeSH term(s) Cloning, Molecular ; DNA, Complementary ; Ectodermal Dysplasia/genetics ; Ectodysplasins ; Humans ; Membrane Proteins/genetics
    Chemical Substances DNA, Complementary ; EDA protein, human ; Ectodysplasins ; Membrane Proteins
    Language English
    Publishing date 2002
    Publishing country Poland
    Document type Journal Article ; Review
    ISSN 1234-1983
    ISSN 1234-1983
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Novel mutation in the 5' splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome.

    Marszalek, Bozena / Wisniewski, Slawomir A / Wojcicki, Piotr / Kobus, Kazimierz / Trzeciak, Wieslaw H

    American journal of medical genetics. Part A

    2003  Volume 123A, Issue 2, Page(s) 169–171

    Abstract: Treacher Collins syndrome (TCS) is caused by mutations in the TCOF1 gene. This gene encodes a serine/alanine-rich protein called treacle. The structure of the entire TCOF1 gene was investigated in a patient with TCS. We detected a novel deletion ( ... ...

    Abstract Treacher Collins syndrome (TCS) is caused by mutations in the TCOF1 gene. This gene encodes a serine/alanine-rich protein called treacle. The structure of the entire TCOF1 gene was investigated in a patient with TCS. We detected a novel deletion (376delAAGGTGAGTGGGACTGCC) spanning 3 bp of exon 4 and 15 bp of the adjacent intronic sequence. This mutation causes premature termination of translation, resulting in a truncated protein devoid of nucleolar localization signal, and potential phosphorylation sites. Real-time PCR analysis showed different melting temperatures of the amplified fragment containing normal allele and that harboring the 18 bp deletion, thus providing a rapid screening assay for this and other deletions of the TCOF1 gene.
    MeSH term(s) Base Sequence ; Exons ; Humans ; Male ; Mandibulofacial Dysostosis/genetics ; Mutation/genetics ; Nuclear Proteins/genetics ; Pedigree ; Phosphoproteins/genetics ; Polymorphism, Single-Stranded Conformational ; Sequence Analysis, DNA ; Sequence Deletion/genetics
    Chemical Substances Nuclear Proteins ; Phosphoproteins ; TCOF1 protein, human
    Language English
    Publishing date 2003-11-01
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2108614-X
    ISSN 1552-4825
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.20312
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1376/A: Show issues Location:
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