检索结果 - Daniel H. Cohn

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  1. 1
    Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.

    Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I. 由 Marcia Willing, Daniel H. Cohn, Peter H. Byers

    出版 1990
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  2. 2
    Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype.

    Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype. 由 Richard Wenstrup, Daniel H. Cohn, Tzafra Cohen, Peter H. Byers

    出版 1988
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  3. 3
    Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele.

    Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele. 由 Daniel H. Cohn, Peter H. Byers, B Steinmann, Richard Gelinas

    出版 1986
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  4. 4
    Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosiac parent exhibits phenotypic features of a mild form of the disease

    Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosiac parent exhibits phenotypic features of a mil... 由 Matthew Edwards, Richard Wenstrup, Peter H. Byers, Daniel H. Cohn

    出版 1992
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  5. 5
    Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and αVβ3 integrin

    Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and αVβ3 integrin 由 Matthew J. Rock, Paul Holden, William A. Horton, Daniel H. Cohn

    出版 2009
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  6. 6
    Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.

    Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia. 由 George E. Tiller, D L Rimoin, Louann W. Murray, Daniel H. Cohn

    出版 1990
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  7. 7
    Investigating the interplay between RNA structural dynamics and RNA chemical probing experiments

    Investigating the interplay between RNA structural dynamics and RNA chemical probing experiments 由 Ethan B Arnold, Daniel H. Cohn, Emma Bose, David Klingler, Gregory Wolfe, Alisha Jones

    出版 2025
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  8. 8
    Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta.

    Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta. 由 Marcia Willing, Daniel H. Cohn, B J Starman, K A Holbrook, Cheryl R. Greenberg, Peter H. Byers

    出版 1988
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  9. 9
    Procollagen II Amino Propeptide Processing by ADAMTS-3

    Procollagen II Amino Propeptide Processing by ADAMTS-3 由 Russell J. Fernandes, Satoshi Hirohata, J. Michael Engle, Alain Colige, Daniel H. Cohn, David R. Eyre, Suneel Apte

    出版 2001
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  10. 10
    Nucleotide sequence of the luxA gene of Vibrio harveyi and the complete amino acid sequence of the alpha subunit of bacterial luciferase.

    Nucleotide sequence of the luxA gene of Vibrio harveyi and the complete amino acid sequence of the alpha subunit of bacterial luciferase. 由 Daniel H. Cohn, Alan J. Mileham, Melvin I. Simon, Kenneth H. Nealson, Steven K. Rausch, D Bonam, Thomas Baldwin

    出版 1985
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  11. 11
    Cloning of the Vibrio harveyi luciferase genes: use of a synthetic oligonucleotide probe.

    Cloning of the Vibrio harveyi luciferase genes: use of a synthetic oligonucleotide probe. 由 Daniel H. Cohn, Richard C. Ogden, John Abelson, Thomas Baldwin, Kenneth H. Nealson, Melvin I. Simon, Alan J. Mileham

    出版 1983
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  12. 12
    <i>IFT52</i>mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome

    <i>IFT52</i>mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome 由 Wenjuan Zhang, S. Paige Taylor, Lisette Nevarez, Ralph S. Lachman, Deborah A. Nickerson, Michael J. Bamshad, Deborah Krakow, Daniel H. Cohn

    出版 2016
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  13. 13
    An amino acid substitution (Gly853–&gt;Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis.

    An amino acid substitution (Gly853–&gt;Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis. 由 R. Bogaert, George E. Tiller, MaryAnn Weis, Helen E. Gruber, David L. Rimoin, Daniel H. Cohn, David R. Eyre

    出版 1992
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  14. 14
    Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis

    Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis 由 Felipe Albuquerque Marques, Jessica Tenney, Iván Durán, Jorge Martı́n, Lisette Nevarez, Robert Pogue, Deborah Krakow, Daniel H. Cohn, Bing Li

    出版 2016
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  15. 15
    Dominant <i>TRPV4</i> mutations in nonlethal and lethal metatropic dysplasia

    Dominant <i>TRPV4</i> mutations in nonlethal and lethal metatropic dysplasia 由 Natalia Camacho, Deborah Krakow, Sharlin Johnykutty, Philip J. Katzman, Samuel H. Pepkowitz, Joris Vriens, Bernd Nilius, Brendan F. Boyce, Daniel H. Cohn

    出版 2010
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  16. 16
    Patient-Derived Skeletal Dysplasia Induced Pluripotent Stem Cells Display Abnormal Chondrogenic Marker Expression and Regulation by<i>BMP2</i>and<i>TGFβ1</i>

    Patient-Derived Skeletal Dysplasia Induced Pluripotent Stem Cells Display Abnormal Chondrogenic Marker Expression and Regulation by<i>BMP2</i>and<i>TGFβ1</i> 由 B. Saitta, Jenna Passarini, Dhruv Sareen, Loren Ornelas, Anais Sahabian, Shilpa Argade, Deborah Krakow, Daniel H. Cohn, Clive N. Svendsen, David L. Rimoin

    出版 2014
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  17. 17
    Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis

    Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis 由 Hane Lee, John M. Graham, David L. Rimoin, Ralph S. Lachman, Pavel Krejčı́, Stuart W. Tompson, Stanley F. Nelson, Deborah Krakow, Daniel H. Cohn

    出版 2012
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  18. 18
    HSP47 and FKBP65 cooperate in the synthesis of type I procollagen

    HSP47 and FKBP65 cooperate in the synthesis of type I procollagen 由 Iván Durán, Lisette Nevarez, Anna Sarukhanov, Sulin Wu, Katrina Lee, Pavel Krejčı́, MaryAnn Weis, David R. Eyre, Deborah Krakow, Daniel H. Cohn

    出版 2014
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  19. 19
    Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome

    Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome 由 Iván Durán, S. Paige Taylor, Wenjuan Zhang, Jorge Martı́n, Kimberly N. Forlenza, Rhonda Spiro, Deborah A. Nickerson, Michael J. Bamshad, Daniel H. Cohn, Deborah Krakow

    出版 2016
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  20. 20
    A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan

    A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan 由 Stuart W. Tompson, Barry Merriman, Vincent Funari, Maryline Fresquet, Ralph S. Lachman, David L. Rimoin, Stanley F. Nelson, Michael D. Briggs, Daniel H. Cohn, Deborah Krakow

    出版 2008
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