Search Results - "Rodenhiser, David I"

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes by Aref-Eshghi, Erfan, Rodenhiser, David I., Schenkel, Laila C., Lin, Hanxin, Skinner, Cindy, Ainsworth, Peter, Paré, Guillaume, Hood, Rebecca L., Bulman, Dennis E., Kernohan, Kristin D., Boycott, Kym M., Campeau, Philippe M., Schwartz, Charles, Sadikovic, Bekim

“…Pediatric developmental syndromes present with systemic, complex, and often overlapping clinical features that are not infrequently a consequence of Mendelian…”
Get full text

BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes by Aref-Eshghi, Erfan, Bend, Eric G., Hood, Rebecca L., Schenkel, Laila C., Carere, Deanna Alexis, Chakrabarti, Rana, Nagamani, Sandesh C. S., Cheung, Sau Wai, Campeau, Philippe M., Prasad, Chitra, Siu, Victoria Mok, Brady, Lauren, Tarnopolsky, Mark A., Callen, David J., Innes, A. Micheil, White, Susan M., Meschino, Wendy S., Shuen, Andrew Y., Paré, Guillaume, Bulman, Dennis E., Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Hennekam, Raoul C., Boycott, Kym M., Schwartz, Charles E., Sadikovic, Bekim

“…Coffin–Siris and Nicolaides–Baraitser syndromes (CSS and NCBRS) are Mendelian disorders caused by mutations in subunits of the BAF chromatin remodeling…”
Get full text

Genomic DNA Methylation-Derived Algorithm Enables Accurate Detection of Malignant Prostate Tissues by Aref-Eshghi, Erfan, Schenkel, Laila C, Ainsworth, Peter, Lin, Hanxin, Rodenhiser, David I, Cutz, Jean-Claude, Sadikovic, Bekim

“…The current methodology involving diagnosis of prostate cancer (PCa) relies on the pathology examination of prostate needle biopsies, a method with high false…”
Get full text

Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C by Schenkel, Laila C, Aref-Eshghi, Erfan, Skinner, Cindy, Ainsworth, Peter, Lin, Hanxin, Paré, Guillaume, Rodenhiser, David I, Schwartz, Charles, Sadikovic, Bekim

“…Claes-Jensen syndrome is an X-linked inherited intellectual disability caused by mutations in the gene. Kdm5c is a histone lysine demethylase involved in…”
Get full text

Genome-wide analysis in human colorectal cancer cells reveals ischemia-mediated expression of motility genes via DNA hypomethylation by Skowronski, Karolina, Skowronki, Karolina, Andrews, Joseph, Rodenhiser, David I, Coomber, Brenda L

“…DNA hypomethylation is an important epigenetic modification found to occur in many different cancer types, leading to the upregulation of previously silenced…”
Get full text

Genome-wide H3K9 Histone Acetylation Profiles Are Altered in Benzopyrene-treated MCF7 Breast Cancer Cells by Sadikovic, Bekim, Andrews, Joseph, Carter, David, Robinson, John, Rodenhiser, David I.

“…Current toxicogenomic approaches generate transcriptional profiles that can identify functional gene expression signatures of environmental toxicants. However,…”
Get full text

Multi-platform whole-genome microarray analyses refine the epigenetic signature of breast cancer metastasis with gene expression and copy number by Andrews, Joseph, Kennette, Wendy, Pilon, Jenna, Hodgson, Alexandra, Tuck, Alan B, Chambers, Ann F, Rodenhiser, David I

“…We have previously identified genome-wide DNA methylation changes in a cell line model of breast cancer metastasis. These complex epigenetic changes that we…”
Get full text

Epigenetic mapping and functional analysis in a breast cancer metastasis model using whole-genome promoter tiling microarrays by Rodenhiser, David I, Andrews, Joseph, Kennette, Wendy, Sadikovic, Bekim, Mendlowitz, Ariel, Tuck, Alan B, Chambers, Ann F

“…Breast cancer metastasis is a complex, multi-step biological process. Genetic mutations along with epigenetic alterations in the form of DNA methylation…”
Get full text

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions by Aref-Eshghi, Erfan, Bend, Eric G., Colaiacovo, Samantha, Caudle, Michelle, Chakrabarti, Rana, Napier, Melanie, Brick, Lauren, Brady, Lauren, Carere, Deanna Alexis, Levy, Michael A., Kerkhof, Jennifer, Stuart, Alan, Saleh, Maha, Beaudet, Arthur L., Li, Chumei, Kozenko, Maryia, Karp, Natalya, Prasad, Chitra, Siu, Victoria Mok, Tarnopolsky, Mark A., Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Krantz, Ian D., Deardorff, Matthew A., Schwartz, Charles E., Sadikovic, Bekim

“…Conventional genetic testing of individuals with neurodevelopmental presentations and congenital anomalies (ND/CAs), i.e., the analysis of sequence and copy…”
Get full text

DNA binding sites for putative methylation boundaries in the unmethylated region of the BRCA1 promoter by Butcher, Darci T., Mancini‐DiNardo, Debora N., Archer, Trevor K., Rodenhiser, David I.

“…Changes in DNA methylation patterns are frequently observed in human cancers and are associated with a decrease in tumor suppressor gene expression…”
Get full text

Epigenetics, Eh!: A meeting summary of the Canadian Conference on Epigenetics by Rodenhiser, David I., Bérubé, Nathalie G., Mann, Mellissa R.W.

“…In May 2011, the Canadian Conference on Epigenetics: Epigenetics Eh! was held in London, Canada. The objectives of this conference were to showcase the breadth…”
Get full text

Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array by Schenkel, Laila C, Schwartz, Charles, Skinner, Cindy, Rodenhiser, David I, Ainsworth, Peter J, Pare, Guillaume, Sadikovic, Bekim

“…Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. It is most frequently caused by an abnormal expansion of the CGG…”
Get full text

CpG methylation within the 5' regulatory region of the BRCA1 gene is tumor specific and includes a putative CREB binding site by MANCINI, D. N, RODENHISER, D. I, AINSWORTH, P. J, O'MALLEY, F. P, SINGH, S. M, WEIRONG XING, ARCHER, T. K

“…Breast cancer is a genetic disease arising from a series of germ-line and/or somatic DNA changes in a variety of genes, including BRCA1 and BRCA2. DNA…”
Get full text

Epigenetic contributions to cancer metastasis by Rodenhiser, David I

“…The molecular basis of cancer encompasses both genetic and epigenetic alterations. These epigenetic changes primarily involve global DNA methylation changes in…”
Get full text

Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome by Schenkel, Laila C, Kernohan, Kristin D, McBride, Arran, Reina, Ditta, Hodge, Amanda, Ainsworth, Peter J, Rodenhiser, David I, Pare, Guillaume, Bérubé, Nathalie G, Skinner, Cindy, Boycott, Kym M, Schwartz, Charles, Sadikovic, Bekim

“…Alpha thalassemia/mental retardation X-linked syndrome (ATR-X) is caused by a mutation at the chromatin regulator gene . The mechanisms involved in the ATR-X…”
Get full text

DNA methylation analysis in constitutional disorders: Clinical implications of the epigenome by Schenkel, Laila C., Rodenhiser, David I., Ainsworth, Peter J., Paré, Guillaume, Sadikovic, Bekim

“…Genomic, chromosomal, and gene-specific changes in the DNA sequence underpin both phenotypic variations in populations as well as disease associations, and the…”
Get full text

Epigenetic inactivation of BRCA1 is associated with aberrant expression of CTCF and DNA methyltransferase ( DNMT3B ) in some sporadic breast tumours by Butcher, Darci T, Rodenhiser, David I

“…Abstract We assessed expression of the BRCA1 , CTCF and DNMT3b methyltransferase genes along with BRCA1 promoter methylation to better define the epigenetic…”
Get full text

Benzopyrene exposure disrupts DNA methylation and growth dynamics in breast cancer cells by Sadikovic, Bekim, Rodenhiser, David I.

“…Exposures to environmental carcinogens and unhealthy lifestyle choices increase the incidence of breast cancer. One such compound, benzo(a)pyrene (BaP), leads…”
Get full text

Gene signatures of breast cancer progression and metastasis by Rodenhiser, David I, Andrews, Joseph D, Vandenberg, Theodore A, Chambers, Ann F

“…Breast cancer is a heterogeneous disease. Patient outcome varies significantly, depending on prognostic features of patients and their tumors, including…”
Get full text

Human 21T breast epithelial cell lines mimic breast cancer progression in vivo and in vitro and show stage-specific gene expression patterns by Souter, Lesley H, Andrews, Joseph D, Zhang, Guihua, Cook, Amy C, Postenka, Carl O, Al-Katib, Waleed, Leong, Hon S, Rodenhiser, David I, Chambers, Ann F, Tuck, Alan B

“…Early breast cancer progression involves advancement through specific morphological stages including atypical ductal hyperplasia (ADH), ductal carcinoma in…”
Get full text