Spelling suggestions: "subject:"own syndrome"" "subject:"down syndrome""
31 |
Identification and Verification of Candidate Biomarkers for Down Syndrome and Discovery of Dysregulated Molecular Pathways in Amniocytes by Proteomics ApproachesCho, Chan-Kyung Jane 06 December 2012 (has links)
Down syndrome (DS), caused by an extra chromosome 21, affects 1 in 750 live births, and is characterized by cognitive impairment as well as several congenital defects. Currently, little is known about the molecular pathogenesis of DS and no direct genotype-phenotype relationship has yet been confirmed. The current screening test for DS subjects many women to undergo invasive procedures such as amniocentesis due to suboptimal sensitivity and specificity. Therefore, this study aimed to discover novel biomarkers to improve screening tests, and to discovery dysregulated molecular pathways in DS-affected fetus to better understand pathogenesis. To achieve this objective, proteomic analyses of amniotic fluid (AF) and amniotic fluid cells (amniocytes) were performed using mass spectrometry (MS), which allows discovery of a large number of proteins in complex biological samples. Since AF contains the most information of the developing fetus, we first generated the most comprehensive list of proteins present in AF by using high resolution MS. We then performed quantitative analyses of proteins from AF as well as amniocytes to reveal novel biomarkers and clues to altered molecular mechanisms of DS. Comparison between the proteome of AF from unaffected and DS-affected pregnancies allowed selection of 60 candidate biomarkers based on spectral counting. Two candidates, APP and TNC-C, were verified by immunoassays to show two-fold increase in AF from DS-pregnancies. Additionally, CPA4, MUC13, CEL, DPP4 and MMP2 were verified to be differentially expressed in trisomy 21-AF via selected reaction monitoring assays using triple-quadruple mass spectrometer. Amniocytes from DS-affected and unaffected fetuses were also quantitatively analyzed by using Stable Isotope Labelling of Amino acids in Cell culture technique. Over 4900 proteins were identified from amniocyte lysate and supernatant by LTQ-Orbitrap mass spectrometer, and 85% of these proteins were quantified based on MS/MS spectra ratios of peptides containing isotope-labelled amino acids. Proteins that consistently showed aberrant expression from affected amniocytes have been selected for further verification and molecular network analyses since they may play a role in DS pathogenesis.
|
32 |
Craniofacial relations in the Down's syndrome a thesis submitted in partial fulfillment ... pedodontics ... /Hollman, Gary C. January 1976 (has links)
Thesis (M.S.)--University of Michigan, 1976.
|
33 |
A comparative cephalometric study of mongoloid and non-mongoloid children a thesis submitted in partial fulfillment ... /Rezk, Enrique R. January 1964 (has links)
Thesis (M.S.)--University of Michigan, 1964.
|
34 |
An analysis of factors relating to low caries activity of institutionalized mongoloid childrenMeyers, Robert A. January 1964 (has links)
Thesis (M.S.)--University of Michigan, Ann Arbor, 1964. / Typescript (photocopy). Includes bibliographical references (leaves 47-50). Also issued in print.
|
35 |
The morphology of the mandible in Down's syndrome submitted in partial fulfillment of the requirements ... [pedodontics] /Kanar, Henry L. January 1971 (has links)
Thesis (M.S.)--University of Michigan, 1971.
|
36 |
Dimensional and proportional characteristics of the face in the Down's syndrome a dissertation [sic] submitted in partial fulfillment ... pedodontics ... /O'Riordan, Michael Walter. January 1975 (has links)
Thesis (M.S.)--University of Michigan, 1975.
|
37 |
A quantitative study of the face in Down's syndrome a thesis submitted in partial fulfillment ... pedodontics ... /Madaus, William K. Fink, George B. January 1974 (has links)
Thesis (M.S.)--University of Michigan, 1974.
|
38 |
The morphology of the mandible in Down's syndrome submitted in partial fulfillment of the requirements ... [pedodontics] /Kanar, Henry L. January 1971 (has links)
Thesis (M.S.)--University of Michigan, 1971.
|
39 |
A quantitative study of the face in Down's syndrome a thesis submitted in partial fulfillment ... pedodontics ... /Madaus, William K. Fink, George B. January 1974 (has links)
Thesis (M.S.)--University of Michigan, 1974.
|
40 |
An analysis of factors relating to low caries activity of institutionalized mongoloid childrenMeyers, Robert A. January 1964 (has links)
Thesis (M.S.)--University of Michigan, Ann Arbor, 1964. / Typescript (photocopy). eContent provider-neutral record in process. Description based on print version record. Includes bibliographical references (leaves 47-50).
|
Page generated in 0.0717 seconds