Andreas D Baxevanis

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc Characterization of the CHD family of proteins
    T Woodage
    Laboratory of Gene Transfer, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 94:11472-7. 1997
  2. pmc The Molecular Biology Database Collection: 2003 update
    Andreas D Baxevanis
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Building 50, Room 5222, Bethesda, MD 20892 8002, USA
    Nucleic Acids Res 31:1-12. 2003
  3. pmc The diversification of the LIM superclass at the base of the metazoa increased subcellular complexity and promoted multicellular specialization
    Bernard J Koch
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 7:e33261. 2012
  4. pmc The DNA-binding region of RAG 1 is not a homeodomain
    Sharmila Banerjee-Basu
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 4470, USA
    Genome Biol 3:INTERACTIONS1004. 2002
  5. pmc The Molecular Biology Database Collection: 2002 update
    Andreas D Baxevanis
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Building 50, Room 5222, Bethesda, MD 20892 8002, USA
    Nucleic Acids Res 30:1-12. 2002
  6. ncbi request reprint Homology model building of Hho1p supports its role as a yeast histone H1 protein
    A D Baxevanis
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    In Silico Biol 1:5-11. 1998
  7. pmc Using genomic databases for sequence-based biological discovery
    Andreas D Baxevanis
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20852, USA
    Mol Med 9:185-92. 2003
  8. pmc The Molecular Biology Database Collection: an updated compilation of biological database resources
    A D Baxevanis
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Building 49, Room 4A 22, Bethesda, MD 20892 4470, USA
    Nucleic Acids Res 29:1-10. 2001
  9. pmc The molecular biology database collection: an online compilation of relevant database resources
    A D Baxevanis
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Building 49, Room 4A 22, Bethesda, MD 20892 4470, USA
    Nucleic Acids Res 28:1-7. 2000
  10. pmc The homeodomain complement of the ctenophore Mnemiopsis leidyi suggests that Ctenophora and Porifera diverged prior to the ParaHoxozoa
    Joseph F Ryan
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Evodevo 1:9. 2010

Detail Information

Publications63

  1. pmc Characterization of the CHD family of proteins
    T Woodage
    Laboratory of Gene Transfer, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 94:11472-7. 1997
    ....
  2. pmc The Molecular Biology Database Collection: 2003 update
    Andreas D Baxevanis
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Building 50, Room 5222, Bethesda, MD 20892 8002, USA
    Nucleic Acids Res 31:1-12. 2003
    ..Short, searchable summaries and updates for each of the databases included in this Collection are available through the Nucleic Acids Research Web site at http://nar.oupjournals.org...
  3. pmc The diversification of the LIM superclass at the base of the metazoa increased subcellular complexity and promoted multicellular specialization
    Bernard J Koch
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 7:e33261. 2012
    ..Despite their fundamental roles in cellular processes and human disease, little is known about the evolution of the LIM superclass...
  4. pmc The DNA-binding region of RAG 1 is not a homeodomain
    Sharmila Banerjee-Basu
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 4470, USA
    Genome Biol 3:INTERACTIONS1004. 2002
    ..Functional annotation is used to catalog information that would be of value in experimental design and analysis but annotations in public databases are often incorrect. Here, one such case is discussed...
  5. pmc The Molecular Biology Database Collection: 2002 update
    Andreas D Baxevanis
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Building 50, Room 5222, Bethesda, MD 20892 8002, USA
    Nucleic Acids Res 30:1-12. 2002
    ..Short, searchable summaries and updates for each of the databases included in the Collection are available through the Nucleic Acids Research Web site at http://nar.oupjournals.org...
  6. ncbi request reprint Homology model building of Hho1p supports its role as a yeast histone H1 protein
    A D Baxevanis
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    In Silico Biol 1:5-11. 1998
    ..These findings support the proposal that Hho1p acts as an "H1 dimer" and could be responsible for the decreased linker DNA length observed between nucleosomal core particles...
  7. pmc Using genomic databases for sequence-based biological discovery
    Andreas D Baxevanis
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20852, USA
    Mol Med 9:185-92. 2003
    ..An overview of the types of information available through each of these front-ends is given, as well as information on tutorials and other documentation intended to increase the reader's familiarity with these tools...
  8. pmc The Molecular Biology Database Collection: an updated compilation of biological database resources
    A D Baxevanis
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Building 49, Room 4A 22, Bethesda, MD 20892 4470, USA
    Nucleic Acids Res 29:1-10. 2001
    ..Short, searchable summaries of each of the databases included in the Collection are available through the Nucleic Acids Research Web site, at http://www. nar.oupjournals.org...
  9. pmc The molecular biology database collection: an online compilation of relevant database resources
    A D Baxevanis
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Building 49, Room 4A 22, Bethesda, MD 20892 4470, USA
    Nucleic Acids Res 28:1-7. 2000
    ..An emphasis has also been placed on including databases where new value is added to the underlying data by virtue of curation, new data connections, or other innovative approaches...
  10. pmc The homeodomain complement of the ctenophore Mnemiopsis leidyi suggests that Ctenophora and Porifera diverged prior to the ParaHoxozoa
    Joseph F Ryan
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Evodevo 1:9. 2010
    ..The homeobox superfamily of genes is particularly suited for these kinds of gene content comparisons, since it is large, diverse, and features a highly conserved domain...
  11. pmc The Histone Database: an integrated resource for histones and histone fold-containing proteins
    Leonardo Mariño-Ramírez
    Computational Biology Branch, National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, 8600 Rockville Pike, MSC 6075, Bethesda, MD 20894 6075, USA
    Database (Oxford) 2011:bar048. 2011
    ..The Histone Sequence Database is an inclusive resource for the analysis of chromatin structure and function focused on histones and histone fold-containing proteins...
  12. ncbi request reprint Structural analysis of disease-causing mutations in the P-subfamily of forkhead transcription factors
    Sharmila Banerjee-Basu
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 8002, USA
    Proteins 54:639-47. 2004
    ..The missense mutations R553H in FOXP2 and R397W in FOXP3 dramatically alter the electrostatic potentials of the molecular surface of their respective forkhead domains...
  13. pmc The ENCODEdb portal: simplified access to ENCODE Consortium data
    Laura L Elnitski
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Genome Res 17:954-9. 2007
    ..The ENCODEdb portal is freely accessible at http://research.nhgri.nih.gov/ENCODEdb...
  14. pmc The Histone Database: a comprehensive resource for histones and histone fold-containing proteins
    Leonardo Mariño-Ramírez
    Computational Biology Branch, National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, Maryland 20894 6075, USA
    Proteins 62:838-42. 2006
    ..The Histone Database is a comprehensive bioinformatics resource for the study of structure and function of histones and histone fold-containing proteins. The database is available at http://research.nhgri.nih.gov/histones/...
  15. pmc The genome of the ctenophore Mnemiopsis leidyi and its implications for cell type evolution
    Joseph F Ryan
    Genome Technology Branch, Division of Intramural Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Science 342:1242592. 2013
    ..These results present a newly supported view of early animal evolution that accounts for major losses and/or gains of sophisticated cell types, including nerve and muscle cells. ..
  16. pmc Characteristics of users of online personalized genomic risk assessments: implications for physician-patient interactions
    Colleen M McBride
    Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Genet Med 11:582-7. 2009
    ..To evaluate what psychological and behavioral factors predict who is likely to seek SNP-based genetic tests for multiple common health conditions where feedback can be used to motivate primary prevention...
  17. ncbi request reprint A customized Web portal for the genome of the ctenophore Mnemiopsis leidyi
    R Travis Moreland
    Genome Technology Branch, Division of Intramural Research, National Human Genome Research Institute, National Institutes of Health, 50 South Drive, Bethesda, MD 20892, USA
    BMC Genomics 15:316. 2014
    ....
  18. pmc Genomic organization, evolution, and expression of photoprotein and opsin genes in Mnemiopsis leidyi: a new view of ctenophore photocytes
    Christine E Schnitzler
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    BMC Biol 10:107. 2012
    ..We combined our genomic survey with gene trees, developmental expression patterns, and functional protein assays of photoproteins and opsins to provide a comprehensive view of light production and light reception in Mnemiopsis...
  19. doi request reprint Searching Online Mendelian Inheritance in Man (OMIM) for information for genetic loci involved in human disease
    Andreas D Baxevanis
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Curr Protoc Bioinformatics . 2002
    ..This unit gives an overview of the OMIM database, the layout of the records, and the information that is available within each entry...
  20. ncbi request reprint Searching NCBI databases using Entrez
    Andreas D Baxevanis
    Bethesda, Maryland
    Curr Protoc Bioinformatics . 2008
    ..The Support Protocol reviews how to save frequently issued queries. Finally, Cn3D, a structure visualization tool, is also discussed...
  21. doi request reprint An overview of gene identification: approaches, strategies, and considerations
    Andreas D Baxevanis
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Curr Protoc Bioinformatics . 2004
    ..This unit offers an overview of many of the gene prediction methods that are currently available and offers a general assessment of how well the methods work for various problems...
  22. doi request reprint Searching Online Mendelian Inheritance in Man (OMIM) for information for genetic loci involved in human disease
    Andreas D Baxevanis
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Curr Protoc Hum Genet . 2003
    ....
  23. pmc Consumers' use of web-based information and their decisions about multiplex genetic susceptibility testing
    Kimberly A Kaphingst
    Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    J Med Internet Res 12:e41. 2010
    ....
  24. pmc Molecular evolution of the homeodomain family of transcription factors
    S Banerjee-Basu
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-4470, USA
    Nucleic Acids Res 29:3258-69. 2001
    ..The phylogenetic analysis, coupled with the chromosomal localization of these genes, provides powerful clues as to how each of these classes arose from the ancestral homeodomain...
  25. pmc The Homeodomain Resource: 2003 update
    Sharmila Banerjee-Basu
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Nucleic Acids Res 31:304-6. 2003
    ..All entries are cross-linked for easy retrieval of the original records from source databases. The Homeodomain Resource is freely available through the World Wide Web at http://research.nhgri.nih.gov/homeodomain/...
  26. pmc The Histone Database
    Steven Sullivan
    Computational Biology Branch, National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Building 45, Room 6AN12J, 45 Center Drive, MSC 6510, Bethesda, MD 20892 6510, USA
    Nucleic Acids Res 30:341-2. 2002
    ..The database also provides summaries of current information on solved histone fold structures, post-translational modifications of histones, and the human histone gene complement...
  27. ncbi request reprint Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus
    R Sood
    Cancer Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA
    Genomics 73:211-22. 2001
    ..Overall, data on 13 novel transcripts and the human RGS8 gene (homologue of the rat RGS8 gene) are presented in this paper. Ten of the 13 novel transcripts are expressed in prostate tissue and represent positional candidates for HPC1...
  28. ncbi request reprint The human RGL (RalGDS-like) gene: cloning, expression analysis and genomic organization
    R Sood
    Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 36, Room 3D05, 9000 Rockville Pike, Bethesda, MD, USA
    Biochim Biophys Acta 1491:285-8. 2000
    ..Northern blot analysis shows that human RGL is expressed in a wide variety of tissues with strong expression being seen in the heart, brain, kidney, spleen and testis...
  29. ncbi request reprint A 6-Mb high-resolution physical and transcription map encompassing the hereditary prostate cancer 1 (HPC1) region
    J D Carpten
    Cancer Genetics Branch, Bethesda, Maryland 20892, USA
    Genomics 64:1-14. 2000
    ..An additional 11 known genes and ESTs have been placed within the larger 1q24-q31 interval. These transcription units represent candidate genes for multiple hereditary diseases, including HPC1...
  30. ncbi request reprint Molecular modeling of mutations in the DNA-binding domain of the oncoprotein Qin
    Sharmila Banerjee-Basu
    Genome Technology Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland 20892 4470, USA
    Mol Cancer Ther 1:1237-41. 2002
    ..The mutated proteins form the overall structure of the forkhead domain, but the mutations do interfere with DNA binding...
  31. pmc MicroRNAs and essential components of the microRNA processing machinery are not encoded in the genome of the ctenophore Mnemiopsis leidyi
    Evan K Maxwell
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    BMC Genomics 13:714. 2012
    ..The genomic repertoires of metazoan microRNAs have become increasingly endorsed as phylogenetic characters and drivers of biological complexity...
  32. pmc GeneLink: a database to facilitate genetic studies of complex traits
    Elizabeth M Gillanders
    Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 8000, USA
    BMC Genomics 5:81. 2004
    ..To minimize the difficulties inherent in complex trait studies, we have developed GeneLink, a Web-accessible, password-protected Sybase database...
  33. ncbi request reprint Power to the people. A User's Guide to the Human Genome. Foreward
    Andreas D Baxevanis
    National Human Genome Research Institute, USA
    Nat Genet 35:2. 2003
  34. pmc Putting science over supposition in the arena of personalized genomics
    Colleen M McBride
    Social and Behavioral Research Branch, National Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Nat Genet 40:939-42. 2008
    ..They also outline one element of this agenda, the Multiplex Initiative, which has been underway since 2006...
  35. ncbi request reprint A user's guide to the human genome
    Tyra G Wolfsberg
    National Human Genome Research Institute, NIH, Bethesda, Maryland 20892, USA
    Nat Genet 32:1-79. 2002
  36. ncbi request reprint Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
    L A Everett
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Nat Genet 17:411-22. 1997
    ....
  37. pmc A variety of DNA-binding and multimeric proteins contain the histone fold motif
    A D Baxevanis
    National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20894, USA
    Nucleic Acids Res 23:2685-91. 1995
    ..It is proposed that these proteins may share a similar three-dimensional conformation despite the lack of significant sequence similarity...
  38. pmc Hox, Wnt, and the evolution of the primary body axis: insights from the early-divergent phyla
    Joseph F Ryan
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Biol Direct 2:37. 2007
    ....
  39. ncbi request reprint Identification of six novel genes by experimental validation of GeneMachine predicted genes
    Izabela Makalowska
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Gene 284:203-13. 2002
    ..Our studies support the feasibility of identifying novel genes from regions of interest using draft human genome sequence...
  40. pmc Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly
    Erich Roessler
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 3717, USA
    Mol Genet Metab 98:225-34. 2009
    ....
  41. ncbi request reprint MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability
    S M Lipkin
    Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA
    Nat Genet 24:27-35. 2000
    ..Functional redundancy among Mlh3, Pms1 and Pms2 may explain why neither Pms1 nor Pms2 mutant mice develop colon cancer, and why PMS1 and PMS2 mutations are only rarely found in HNPCC families...
  42. ncbi request reprint GeneMachine: gene prediction and sequence annotation
    I Makalowska
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Building 49, Room 4A-22, Bethesda, MD 20892, USA
    Bioinformatics 17:843-4. 2001
    ..nhgri.nih.gov. The Web supplement to this paper may be found at http://genome.nhgri.nih.gov/genemachine/supplement/...
  43. doi request reprint Internet basics
    A D Baxevanis
    National Human Genome Research Institute, NIH, Bethesda, Maryland, USA
    Curr Protoc Protein Sci . 2001
    ..Finally, one of the most common problems that has arisen with the proliferation of Web pages throughout the world is addressed--i.e., finding useful information on the World Wide Web...
  44. pmc MLV integration site selection is driven by strong enhancers and active promoters
    Matthew C LaFave
    Division of Intramural Research, Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 8004, USA
    Nucleic Acids Res 42:4257-69. 2014
    ..The approach we used is applicable to analyzing the integration pattern of any exogenous element and could be a valuable preclinical screen to evaluate the safety of gene therapy vectors...
  45. ncbi request reprint Searching NCBI Databases Using Entrez
    Gretchen Gibney
    Bethesda, Maryland
    Curr Protoc Hum Genet . 2011
    ..The support protocol reviews how to save frequently issued queries. Finally, Cn3D, a structure visualization tool, is also discussed. Curr. Protoc. Hum. Genet. 71:6.10.1-6.10.24 © 2011 by John Wiley & Sons, Inc...
  46. ncbi request reprint Searching NCBI Databases Using Entrez
    Gretchen Gibney
    Bethesda, Maryland
    Curr Protoc Bioinformatics . 2011
    ..The support protocol reviews how to save frequently issued queries. Finally, Cn3D, a structure visualization tool, is also discussed. Curr. Protoc. Bioinform. 34:1.3.1-1.3.25. © 2011 by John Wiley & Sons, Inc...
  47. ncbi request reprint Physical and transcript map of the hereditary prostate cancer region at xq27
    Dietrich A Stephan
    Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Genomics 79:41-50. 2002
    ..These transcriptional units represent candidate genes for HPCX and multiple other hereditary diseases at Xq26.3-q27.3...
  48. ncbi request reprint Gene identification: methods and considerations
    A D Baxevanis
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Curr Protoc Hum Genet . 2001
    ..This unit introduces readers to some of the more commonly used techniques for gene identification...
  49. pmc The HMG-1 box protein family: classification and functional relationships
    A D Baxevanis
    National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20894, USA
    Nucleic Acids Res 23:1604-13. 1995
    ..The HMG-1 box provides an excellent example of how a specific protein motif, with slight alteration, can be used to recognize DNA in a variety of functional contexts...
  50. ncbi request reprint Internet basics for biologists
    A D Baxevanis
    National Human Genome Research Institute, NIH, Bethesda, Maryland, USA
    Curr Protoc Cell Biol . 2001
    ..This unit provides an introduction to the internet-how it is organized, how you connect to it, using email and file transfer protocols, and finding your way around the Web...
  51. pmc Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene
    D A Stephan
    Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 96:1008-12. 1999
    ..This is the first gene defect shown to be responsible for a noncongenital progressive cataract, and studying the defective protein should teach us more about the mechanisms underlying cataract formation...
  52. ncbi request reprint Internet basics for biologists
    A D Baxevanis
    National Human Genome Research Institute, NIH, Bethesda, Maryland, USA
    Curr Protoc Mol Biol . 2001
    ..Finally, one of the most common problems that has arisen with the proliferation of Web pages throughout the world is addressed, i.e., finding useful information on the World Wide Web...
  53. ncbi request reprint Internet basics for biologists
    A D Baxevanis
    National Human Genome Research Institute, NIH, Bethesda, Maryland, USA
    Curr Protoc Hum Genet . 2001
    ..Finally, one of the most common problems that has arisen with the proliferation of Web pages throughout the worldWith the explosion of sequence and structural information available to researchers, the field of bioinformatics is playing...
  54. ncbi request reprint Comparative analyses of the Dominant megacolon-SOX10 genomic interval in mouse and human
    E M Southard-Smith
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 49 Convent Dr, Bethesda, Maryland 20892 4470, USA
    Mamm Genome 10:744-9. 1999
  55. pmc Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans
    J D Karkera
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 81:987-94. 2007
    ..These findings implicate perturbations of the TGF- beta signaling pathway in the causation of a major subclass of human CHDs...
  56. ncbi request reprint Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome
    D L Stone
    Genetic Diseases Research Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA
    Nat Genet 25:79-82. 2000
    ..We believe that this is the first description of a human disorder caused by mutations affecting a putative chaperonin molecule...
  57. ncbi request reprint The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome
    E M Southard-Smith
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health NIH, Bethesda, Maryland 20892 4472 USA
    Genome Res 9:215-25. 1999
    ..Structural analysis of the HMG DNA-binding domain was performed to evaluate the effect of human mutations in this region...
  58. doi request reprint Searching the NCBI databases using Entrez
    Andreas D Baxevanis
    Curr Protoc Hum Genet . 2006
    ..The Support Protocol reviews how to save frequently-issued queries. Finally, Cn3D, a structure visualization tool, is also discussed...
  59. ncbi request reprint Common file formats
    Shonda A Leonard
    IBM Life Sciences, St Leonards, NSW, Australia
    Curr Protoc Bioinformatics . 2007
    ..Specifically, it reviews the rules for generating FASTA files and provides guidance for interpreting NCBI descriptor lines, commonly found in FASTA files. In addition, it reviews the construction of GenBank, Phylip, MSF and Nexus files...
  60. doi request reprint The importance of biological databases in biological discovery
    Andreas D Baxevanis
    Curr Protoc Bioinformatics . 2006
    ..Non-sequence-centric databases such as Online Mendelian Inheritance in Man (OMIM), the Protein Data Bank (PDB), and the Kyoto Encyclopedia of Genes and Genomes (KEGG) are also discussed...
  61. doi request reprint Searching the NCBI databases using Entrez
    Andreas D Baxevanis
    Curr Protoc Bioinformatics . 2006
    ..The Support Protocol reviews how to save frequently-issued queries. Finally, Cn3D, a structure visualization tool, is also discussed...
  62. ncbi request reprint Gaucher mutation N188S is associated with myoclonic epilepsy
    Laurence Kowarz
    Hum Mutat 26:271-3; author reply 274-5. 2005
    ..quot; Our clinical experience with patients carrying this mutation and preliminary protein modeling data lead us to dispute this conclusion...