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  2. Mucolipidosis type IV (MLIV) is an autosomal recessive lysosomal storage disorder characterized by severe neurologic and ophthalmologic abnormalities. Recently the MLIV gene, MCOLN1, has been identified as a new ...

    Authors: John L Falardeau, John C Kennedy, James S Acierno Jr, Mei Sun, Stefanie Stahl, Ehud Goldin and Susan A Slaugenhaupt
    Citation: BMC Genomics 2002 3:3
    Content type: Research article Published on:

  3. The phospholipase D (PLD) family has been identified in plants by recent molecular studies, fostered by the emerging importance of plant PLDs in stress physiology and signal transduction. However, the presence...

    Authors: Marek Eliáš, Martin Potocký, Fatima Cvrčková and Viktor Žárský
    Citation: BMC Genomics 2002 3:2
    Content type: Research article Published on:

  4. Two-hybrid screening for proteins that interact with the core domain of human topoisomerase I identified two novel proteins, BTBD1 and BTBD2, which share 80% amino acid identities.

    Authors: Lixin Xu, Lihong Yang, Keiko Hashimoto, Melvin Anderson, Glenda Kohlhagen, Yves Pommier and Peter D'Arpa
    Citation: BMC Genomics 2002 3:1
    Content type: Research article Published on:

  5. Non-allelic homologous recombination between paralogous repeats is increasingly being recognized as a major mechanism causing both pathogenic microdeletions and duplications, and structural polymorphism in the...

    Authors: Matthew E Hurles
    Citation: BMC Genomics 2001 2:11
    Content type: Research article Published on:

  7. The yeast yCCR4 factor belongs to the CCR4-NOT transcriptional regulatory complex, in which it interacts, through its leucine-rich repeat (LRR) motif with yPOP2. Recently, yCCR4 was shown to be a component of ...

    Authors: Anne Dupressoir, Anne-Pierre Morel, Willy Barbot, Marie-Paule Loireau, Laura Corbo and Thierry Heidmann
    Citation: BMC Genomics 2001 2:9
    Content type: Research article Published on:

  8. Studies suggest that the related proteins nucleoplasmin and nucleophosmin (also called B23, NO38 or numatrin) are nuclear chaperones that mediate the assembly of nucleosomes and ribosomes, respectively, and th...

    Authors: Gregory M Shackleford, Amit Ganguly and Craig A MacArthur
    Citation: BMC Genomics 2001 2:8
    Content type: Research article Published on:

  9. The tropomodulins (TMODs) are a family of proteins that cap the pointed ends of actin filaments. Four TMODs have been identified in humans, with orthologs in mice. Mutations in actin or actin-binding proteins ...

    Authors: Patrick R Cox, Teepu Siddique and Huda Y Zoghbi
    Citation: BMC Genomics 2001 2:7
    Content type: Research article Published on:

  10. DAZAP1 (DAZ Associated Protein 1) was originally identified by a yeast two-hybrid system through its interaction with a putative male infertility factor, DAZ (Deleted in Azoospermia). In vitro, DAZAP1 interacts w...

    Authors: Tiane Dai, Yanira Vera, Eduardo C Salido and Pauline H Yen
    Citation: BMC Genomics 2001 2:6
    Content type: Research article Published on:

  12. Single nucleotide polymorphisms (SNPs) are the foundation of powerful complex trait and pharmacogenomic analyses. The availability of large SNP databases, however, has emphasized a need for inexpensive SNP gen...

    Authors: A Fawad Faruqi, Seiyu Hosono, Mark D Driscoll, Frank B Dean, Osama Alsmadi, Rajanikanta Bandaru, Gyanendra Kumar, Brian Grimwade, Qiuling Zong, Zhenyu Sun, Yuefen Du, Stephen Kingsmore, Tim Knott and Roger S Lasken
    Citation: BMC Genomics 2001 2:4
    Content type: Research article Published on:

  13. A partial cDNA clone from dog thyroid presenting a very significant similarity with an uncharacterized mouse EST sequence was isolated fortuitously. We report here the identification of the complete mRNA and o...

    Authors: Christiane Christophe-Hobertus, Claude Szpirer, Richard Guyon and Daniel Christophe
    Citation: BMC Genomics 2001 2:3
    Content type: Research article Published on:

  15. Receptor protein tyrosine phosphatase rho (RPTPρ, gene symbol PTPRT) is a member of the type IIB RPTP family. These transmembrane molecules have been linked to signal transduction, cell adhesion and neurite ex...

    Authors: Julie A Besco, Adrienne Frostholm, Magdalena C Popesco, Arthur HM Burghes and Andrej Rotter
    Citation: BMC Genomics 2001 2:1
    Content type: Research article Published on:

  16. Cystinosis is an autosomal recessive disorder characterised by an intralysosomal accumulation of cystine, and affected individuals progress to end-stage renal failure before the age of ten. The causative gene, CT...

    Authors: Stéphanie Cherqui, Vasiliki Kalatzis, Lionel Forestier, Isabelle Poras and Corinne Antignac
    Citation: BMC Genomics 2000 1:2
    Content type: Research article Published on:

  17. Capping protein (CP), a heterodimer of α and β subunits, is found in all eukaryotes. CP binds to the barbed ends of actin filaments in vitro and controls actin assembly and cell motility in vivo. Vertebrates have...

    Authors: Marilyn C Hart, Yulia O Korshunova and John A Cooper
    Citation: BMC Genomics 2000 1:1
    Content type: Research article Published on:

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BMC Genomics

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