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  1. Article: Lysosomal Acid phosphatase deficiency: liver specific variant in the mouse.

    Lalley, P A / Shows, T B

    Genetics

    2007  Volume 87, Issue 2, Page(s) 305–317

    Abstract: The number and classes of genes responsible for the final expression of lysosomal acid phosphatase were investigated in the mouse (Mus musculus ). In mouse tissues, lysosomal acid phosphatase activity was separated by gel electrophoresis into two major ... ...

    Abstract The number and classes of genes responsible for the final expression of lysosomal acid phosphatase were investigated in the mouse (Mus musculus ). In mouse tissues, lysosomal acid phosphatase activity was separated by gel electrophoresis into two major zones of activity. The cathodal zone of activity in liver of the SM/J inbred strain was almost completely absent, while the anodal zone was increased in activity. Other tissues from SM/J were not affected, nor were livers and other tissues in 27 inbred mouse strains. Genetic studies indicated that this deficiency variant segregated as an autosomal codominant gene which has been designated Apl to symbolize the acid phosphatase liver phenotype. The Apl gene was not linked to markers on chromosomes 1, 2, 4, 5, 7, 8, or X. Electrophoretic, heat denaturation, neuraminidase treatment, tartrate inhibition studies and tissue mixing experiments suggested that the Apl gene was not a structural gene for acid phosphatase, but a separate gene that functions in liver and is responsible for controlling or modifying an acid phosphatase structural gene product.
    Language English
    Publishing date 2007-01-02
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2167-2
    ISSN 1943-2631 ; 0016-6731
    ISSN (online) 1943-2631
    ISSN 0016-6731
    DOI 10.1093/genetics/87.2.305
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Assignment<footref rid="foot01"> ; </footref> of Ubiquilin2 (UBQLN2) to human chromosome Xp11.23→p11.1 by GeneBridge radiation hybrids

    Kaye, F.J. / Shows, T.B.

    Cytogenetic and Genome Research

    2000  Volume 89, Issue 1-2, Page(s) 116–117

    Institution Medicine Branch, National Cancer Institute and National Naval Medical Center, Bethesda, MD Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, NY (USA
    Language English
    Publishing date 2000-06-26
    Publisher S. Karger AG
    Publishing place Basel, Switzerland
    Document type Article
    Note Paper
    ZDB-ID 2087824-2
    ISSN 1424-859X ; 1424-8581
    ISSN (online) 1424-859X
    ISSN 1424-8581
    DOI 10.1159/000015588
    Database Karger publisher's database

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  3. Article: Assignment of ubiquilin2 (UBQLN2) to human chromosome xp11. 23-->p11.1 by GeneBridge radiation hybrids.

    Kaye, F J / Shows, T B

    Cytogenetics and cell genetics

    2000  Volume 89, Issue 1-2, Page(s) 116–117

    MeSH term(s) Cell Cycle Proteins ; Fungal Proteins/genetics ; Genetic Linkage/genetics ; Humans ; Hybrid Cells ; Nervous System Diseases/genetics ; Phenotype ; Physical Chromosome Mapping ; Saccharomyces cerevisiae Proteins ; Ubiquitins/genetics ; X Chromosome/genetics
    Chemical Substances Cell Cycle Proteins ; DSK2 protein, S cerevisiae ; Fungal Proteins ; Saccharomyces cerevisiae Proteins ; Ubiquitins
    Language English
    Publishing date 2000
    Publishing country Switzerland
    Document type Journal Article ; Research Support, U.S. Gov't, P.H.S.
    ZDB-ID 186001-x
    ISSN 1421-9816 ; 0301-0171
    ISSN (online) 1421-9816
    ISSN 0301-0171
    DOI 10.1159/000015588
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  4. Article: Inherited variant of erythrocyte carbonic anhydrase in micronesians from Guam and Saipan.

    TASHIAN, R E / PLATO, C C / SHOWS, T B

    Science (New York, N.Y.)

    2003  Volume 140, Issue 3562, Page(s) 53–54

    Abstract: A variant of one form of red cell carbonic anhydrase was discovered in "Chamorro" inhabitants from the islands of Guam and Saipan. Segregation of this trait in four pedigrees indicates that it is under the control of a single autosomal gene. ...

    Abstract A variant of one form of red cell carbonic anhydrase was discovered in "Chamorro" inhabitants from the islands of Guam and Saipan. Segregation of this trait in four pedigrees indicates that it is under the control of a single autosomal gene.
    MeSH term(s) Carbonic Anhydrases ; Erythrocytes ; Ethnic Groups ; Guam ; Humans ; Phenotype
    Chemical Substances Carbonic Anhydrases (EC 4.2.1.1)
    Language English
    Publishing date 2003-05-15
    Publishing country United States
    Document type Journal Article
    ZDB-ID 128410-1
    ISSN 1095-9203 ; 0036-8075
    ISSN (online) 1095-9203
    ISSN 0036-8075
    DOI 10.1126/science.140.3562.53
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  5. Article: Structure of the human 70 K type IV collagenase gene and assignment of the gene to the q21 region of chromosome 16.

    Huhtala, P / Chow, L / Shows, T / Tryggvason, K

    Matrix (Stuttgart, Germany). Supplement

    1992  Volume 1, Page(s) 84

    MeSH term(s) Chromosome Mapping ; Chromosomes, Human, Pair 16 ; Collagenases/genetics ; Genes ; Humans ; Matrix Metalloproteinase 9
    Chemical Substances Collagenases (EC 3.4.24.-) ; Matrix Metalloproteinase 9 (EC 3.4.24.35)
    Language English
    Publishing date 1992
    Publishing country Germany
    Document type Journal Article
    ISSN 0940-1199
    ISSN 0940-1199
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  6. Article: Human genome organization of enzyme loci and metabolic diseases.

    Shows, T B

    Isozymes

    1983  Volume 10, Page(s) 323–339

    MeSH term(s) Animals ; Biological Evolution ; Chromosome Mapping ; Genes ; Genetic Linkage ; Humans ; Isoenzymes/genetics ; Metabolism, Inborn Errors/enzymology ; Metabolism, Inborn Errors/genetics ; Mice
    Chemical Substances Isoenzymes
    Language English
    Publishing date 1983
    Publishing country United States
    Document type Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S. ; Review
    ZDB-ID 756149-0
    ISSN 0160-3787
    ISSN 0160-3787
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  7. Article: Genetics of chromosome 11: loci for pediatric and adult malignancies, developmental disorders, and other diseases.

    Nowak, N J / Shows, T B

    Cancer investigation

    1995  Volume 13, Issue 6, Page(s) 646–659

    MeSH term(s) Adult ; Child ; Chromosome Mapping ; Chromosomes, Human, Pair 11/genetics ; Developmental Disabilities/genetics ; Humans ; Neoplasms/genetics
    Language English
    Publishing date 1995
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 604942-4
    ISSN 0735-7907
    ISSN 0735-7907
    DOI 10.3109/07357909509024936
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  8. Article: Isolation and characterization of a novel zinc-finger protein with transcription repressor activity.

    Williams, A J / Khachigian, L M / Shows, T / Collins, T

    The Journal of biological chemistry

    1995  Volume 270, Issue 38, Page(s) 22143–22152

    Abstract: To identify genes that can repress the expression of growth regulatory molecules, a human fetal cDNA library was screened with a degenerate oligonucleotide that corresponds to the conserved stretch of 6 amino acids connecting successive zinc-finger ... ...

    Abstract To identify genes that can repress the expression of growth regulatory molecules, a human fetal cDNA library was screened with a degenerate oligonucleotide that corresponds to the conserved stretch of 6 amino acids connecting successive zinc-finger regions in the Wilms' tumor suppressor/Egr-1 family of DNA-binding proteins. One clone, designated zinc-finger protein 174 (ZNF174), corresponds to a putative transcription factor with three zinc fingers and a novel finger-associated domain, designated the SCAN box. The three Cys2-His2-type zinc fingers are positioned at the carboxyl terminus, while the 65-amino acid finger-associated SCAN box is located near the amino terminus. Chromosomal localization using somatic cell hybrid analysis and fluorescent in situ hybridization mapped the gene for ZNF174 to human chromosome 16p13.3. The 2.5-kilobase transcript from this gene is expressed in a variety of human organs, but most strongly in adult testis and ovary. Fusion of the upstream regulatory region of ZNF174 to the DNA-binding domain of GAL4 revealed that the gene could confer a repression function on the heterologous DNA-binding domain. ZNF174 selectively repressed reporter activity driven by the platelet-derived growth factor-B chain and transforming growth factor-beta 1 promoters and bound to DNA in a specific manner. This member of the C2H2-type zinc-finger family is a novel transcriptional repressor.
    MeSH term(s) Amino Acid Sequence ; Base Sequence ; Chromosomes, Human, Pair 16 ; Cloning, Molecular ; DNA Primers/chemistry ; DNA, Complementary/genetics ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/isolation & purification ; Gene Expression ; Genes ; Humans ; Molecular Sequence Data ; Platelet-Derived Growth Factor/genetics ; Promoter Regions, Genetic ; Protein Structure, Secondary ; Proto-Oncogene Proteins/genetics ; Proto-Oncogene Proteins c-sis ; RNA, Messenger/genetics ; Repressor Proteins/genetics ; Repressor Proteins/isolation & purification ; Sequence Alignment ; Sequence Homology, Amino Acid ; Tissue Distribution ; Zinc Fingers
    Chemical Substances DNA Primers ; DNA, Complementary ; DNA-Binding Proteins ; Platelet-Derived Growth Factor ; Proto-Oncogene Proteins ; Proto-Oncogene Proteins c-sis ; RNA, Messenger ; Repressor Proteins
    Language English
    Publishing date 1995-09-22
    Publishing country United States
    Document type Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
    ZDB-ID 2997-x
    ISSN 1083-351X ; 0021-9258
    ISSN (online) 1083-351X
    ISSN 0021-9258
    DOI 10.1074/jbc.270.38.22143
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  9. Article ; Online: Assignment ; of Ubiquilin2 (UBQLN2) to human chromosome Xp11.23→p11.1 by GeneBridge radiation hybrids

    Kaye, F. J. / Shows, T. B.

    Cytogenetics and Cell Genetics

    2000  Volume 89, Issue 1-2, Page(s) 116–117

    Language English
    Publisher S. Karger AG
    Publishing place Basel
    Publishing country Switzerland
    Document type Article ; Online
    ZDB-ID 186001-x
    ISSN 1422-9816 ; 0301-0171 ; 0301-0171
    ISSN (online) 1422-9816
    ISSN 0301-0171
    DOI 10.1159/000015588
    Database Karger publisher's database

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  10. Article: ERYTHROCYTE GLUCOSE-6-PHOSPHATE DEHYDROGENASE IN CAUCASIANS: NEW INHERITED VARIANT.

    SHOWS, T B / TASHIAN, R E / BREWER, G J / DERN, R J

    Science (New York, N.Y.)

    2003  Volume 145, Issue 3636, Page(s) 1056–1057

    Abstract: A new inherited variant of glucose-6-phosphate dehydrogenase having both a lowered enzyme activity and an altered electrophoretic mobility was discovered in two unrelated American families, one of Irish and the other of German ancestry. Family studies of ...

    Abstract A new inherited variant of glucose-6-phosphate dehydrogenase having both a lowered enzyme activity and an altered electrophoretic mobility was discovered in two unrelated American families, one of Irish and the other of German ancestry. Family studies of the trait indicate that it is due to a sexlinked gene.
    MeSH term(s) Erythrocytes ; European Continental Ancestry Group ; Genetics, Medical ; Glucosephosphate Dehydrogenase ; Humans
    Chemical Substances Glucosephosphate Dehydrogenase (EC 1.1.1.49)
    Language English
    Publishing date 2003-05-15
    Publishing country United States
    Document type Journal Article
    ZDB-ID 128410-1
    ISSN 1095-9203 ; 0036-8075
    ISSN (online) 1095-9203
    ISSN 0036-8075
    DOI 10.1126/science.145.3636.1056
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