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  • 1
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    Haplotype variation and linkage disequilibrium in 313 human genes (2001)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2001-07-14
    Description: Variation within genes has important implications for all biological traits. We identified 3899 single nucleotide polymorphisms (SNPs) that were present within 313 genes from 82 unrelated individuals of diverse ancestry, and we organized the SNPs into 4304 different haplotypes. Each gene had several variable SNPs and haplotypes that were present in all populations, as well as a number that were population-specific. Pairs of SNPs exhibited variability in the degree of linkage disequilibrium that was a function of their location within a gene, distance from each other, population distribution, and population frequency. Haplotypes generally had more information content (heterozygosity) than did individual SNPs. Our analysis of the pattern of variation strongly supports the recent expansion of the human population.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Stephens, J C -- Schneider, J A -- Tanguay, D A -- Choi, J -- Acharya, T -- Stanley, S E -- Jiang, R -- Messer, C J -- Chew, A -- Han, J H -- Duan, J -- Carr, J L -- Lee, M S -- Koshy, B -- Kumar, A M -- Zhang, G -- Newell, W R -- Windemuth, A -- Xu, C -- Kalbfleisch, T S -- Shaner, S L -- Arnold, K -- Schulz, V -- Drysdale, C M -- Nandabalan, K -- Judson, R S -- Ruano, G -- Vovis, G F -- New York, N.Y. -- Science. 2001 Jul 20;293(5529):489-93. Epub 2001 Jul 12.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Genaissance Pharmaceuticals, Inc., Five Science Park, New Haven, CT 06511, USA. c.stephens@genaissance.com〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11452081" target="_blank"〉PubMed〈/a〉
    Keywords: African Continental Ancestry Group/genetics ; Alleles ; Animals ; Asian Continental Ancestry Group/genetics ; Dinucleoside Phosphates/genetics ; European Continental Ancestry Group/genetics ; Evolution, Molecular ; Female ; *Genetic Variation ; *Haplotypes ; Heterozygote ; Hispanic Americans/genetics ; Humans ; *Linkage Disequilibrium ; Male ; Mutation ; Pan troglodytes/genetics ; *Polymorphism, Single Nucleotide ; X Chromosome/genetics
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 2
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    Antagonistic actions of Msx1 and Osr2 pattern mammalian teeth into a single row (2009)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2009-03-03
    Description: Mammals have single-rowed dentitions, whereas many nonmammalian vertebrates have teeth in multiple rows. Neither the molecular mechanism regulating iterative tooth initiation nor that restricting mammalian tooth development in one row is known. We found that mice lacking the transcription factor odd-skipped related-2 (Osr2) develop supernumerary teeth lingual to their molars because of expansion of the odontogenic field. Osr2 was expressed in a lingual-to-buccal gradient and restricted expression of bone morphogenetic protein 4 (Bmp4), an essential odontogenic signal, in the developing tooth mesenchyme. Expansion of odontogenic field in Osr2-deficient mice required Msx1, a feedback activator of Bmp4 expression. These findings suggest that the Bmp4-Msx1 pathway propagates mesenchymal activation for sequential tooth induction and that spatial modulation of this pathway provides a mechanism for patterning vertebrate dentition.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2650836/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2650836/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Zhang, Zunyi -- Lan, Yu -- Chai, Yang -- Jiang, Rulang -- R01 DE013681/DE/NIDCR NIH HHS/ -- R01 DE013681-06/DE/NIDCR NIH HHS/ -- R01 DE013681-07/DE/NIDCR NIH HHS/ -- R01 DE013681-08/DE/NIDCR NIH HHS/ -- R01 DE013681-09/DE/NIDCR NIH HHS/ -- R01DE013681/DE/NIDCR NIH HHS/ -- T32DE007202/DE/NIDCR NIH HHS/ -- New York, N.Y. -- Science. 2009 Feb 27;323(5918):1232-4. doi: 10.1126/science.1167418.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Center for Oral Biology and Department of Biomedical Genetics, University of Rochester Medical Center, Rochester, NY 14642, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/19251632" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Bone Morphogenetic Protein 4/metabolism ; Dentition ; Epithelium/embryology/metabolism ; Gene Expression ; Gene Expression Profiling ; MSX1 Transcription Factor/genetics/*metabolism ; Mesoderm/embryology/metabolism ; Mice ; Molar/embryology ; Morphogenesis ; Mutation ; *Odontogenesis ; Tooth Germ/embryology/metabolism ; Tooth, Supernumerary/*embryology ; Transcription Factors/genetics/*metabolism
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
    Location Call Number Expected Availability
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    PAPER CURRENT
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