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Full-Text Articles in Life Sciences

Comparisons Of Isogenic Trisomic And Disomic Cells From People With Mosaicism For Down Syndrome Unmask Cellular Differences Related To Trisomy 21, Kelly A. Rafferty Jan 2017

Comparisons Of Isogenic Trisomic And Disomic Cells From People With Mosaicism For Down Syndrome Unmask Cellular Differences Related To Trisomy 21, Kelly A. Rafferty

Theses and Dissertations

It is known that age-related changes impacting multiple organ systems occur earlier in people with Down syndrome (Ds), but the biological basis underlying this trisomy 21-associated propensity for premature aging is poorly understood. Given that the trisomic/normal cells from people with mosaic Ds (mDs) are identical with regards to environmental exposures and genes (except for chromosome 21 copy number), comparisons of these isogenic trisomic/disomic cells allow one to “unmask” the cellular consequences of trisomy 21 by removing extraneous factors. The primary aim of this study was to determine if trisomy 21 results in an increase in the acquisition of age-related …


Exploring Birthparent’S Experiences Of Creating An Adoption Plan For Their Children With Special Needs, Sanjukta Tawde Jan 2015

Exploring Birthparent’S Experiences Of Creating An Adoption Plan For Their Children With Special Needs, Sanjukta Tawde

Theses and Dissertations

Very little information is available regarding the experience and needs of families who create an adoption plan for their child with disability. The purpose of this study was to learn more about the experiences of birthparents who created an adoption plan after the diagnosis of Down syndrome so as to understand their needs during the process. Birthparents were invited to participate in the study through National Down Syndrome Adoption Network (NDSAN) by membership emails. Information about the study was made available on the organization’s website and social media pages. Potential participants also learned about the study from one of the …


Dna Methylation Arrays As Surrogate Measures Of Cell Mixture Distribution, Eugene Houseman, William P. Accomando, Devin C. Koestler, Brock C. Christensen, Carmen J. Marsit May 2012

Dna Methylation Arrays As Surrogate Measures Of Cell Mixture Distribution, Eugene Houseman, William P. Accomando, Devin C. Koestler, Brock C. Christensen, Carmen J. Marsit

Dartmouth Scholarship

There has been a long-standing need in biomedical research for a method that quantifies the normally mixed composition of leukocytes beyond what is possible by simple histological or flow cytometric assessments. The latter is restricted by the labile nature of protein epitopes, requirements for cell processing, and timely cell analysis. In a diverse array of diseases and following numerous immune-toxic exposures, leukocyte composition will critically inform the underlying immuno-biology to most chronic medical conditions. Emerging research demonstrates that DNA methylation is responsible for cellular differentiation, and when measured in whole peripheral blood, serves to distinguish cancer cases from controls.


Organization Of The Centromeric Satellite I Cluster And D21z1 Short Arm Junction Region Of Human Chromosome 21, Riddhi V. Patel Jan 2012

Organization Of The Centromeric Satellite I Cluster And D21z1 Short Arm Junction Region Of Human Chromosome 21, Riddhi V. Patel

Master's Theses

To study chromosomal segregation errors causing Down syndrome one needs a chromosome 21 (HC21) specific centromeric marker, which presently does not exist. Alphoid DNA is the only repetitive sequence at all human centromeres. The current map of HC21 has a gap in the p-arm alphoid (D21Z1) junction region and the centromeric satellite I (satI) sequence. This satellite I cluster was shown not to be a specific centromeric marker since it is also on HC13. There are actually multiple satI families on both HC13 and HC21. This project also filled the gap in the HC21map and characterized the D21Z1 p- arm …