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Your search keyword '"FitzPatrick, David R."' showing total 4 results
Start Over Author "FitzPatrick, David R." Journal science
4 results on '"FitzPatrick, David R."'

1. Quantifying the contribution of recessive coding variation to developmental disorders

Author

Deciphering Developmental Disorders Study, Martin, Hilary C., Jones, Wendy D., McIntyre, Rebecca, Sanchez-Andrade, Gabriela, Sanderson, Mark, Stephenson, James D., Jones, Carla P., Handsaker, Juliet, Gallone, Giuseppe, Bruntraeger, Michaela, McRae, Jeremy F., Prigmore, Elena, Short, Patrick, Niemi, Mari, Kaplanis, Joanna, Radford, Elizabeth J., Akawi, Nadia, Balasubramanian, Meena, Dean, John, Horton, Rachel, Hulbert, Alice, Johnson, Diana S., Johnson, Katie, Kumar, Dhavendra, Lynch, Sally Ann, Mehta, Sarju G., Morton, Jenny, Parker, Michael J., Splitt, Miranda, Turnpenny, Peter D., Vasudevan, Pradeep C., Wright, Michael, Bassett, Andrew, Gerety, Sebastian S., Wright, Caroline F., FitzPatrick, David R., Firth, Helen V., Hurles, Matthew E., and Barrett, Jeffrey C.

Published
2018

2. Fine Tuning of Craniofacial Morphology by Distant-Acting Enhancers

Author

Attanasio, Catia, Nord, Alex S, Zhu, Yiwen, Blow, Matthew J, Li, Zirong, Liberton, Denise K, Morrison, Harris, Plajzer-Frick, Ingrid, Holt, Amy, Hosseini, Roya, Phouanenavong, Sengthavy, Akiyama, Jennifer A, Shoukry, Malak, Afzal, Veena, Rubin, Edward M, FitzPatrick, David R, Ren, Bing, Hallgrímsson, Benedikt, Pennacchio, Len A, and Visel, Axel

Subjects
Pediatric Research Initiative, Biotechnology, Dental/Oral and Craniofacial Disease, Genetics, Congenital Structural Anomalies, Human Genome, Pediatric, Animals, Craniofacial Abnormalities, Enhancer Elements, Genetic, Epigenesis, Genetic, Face, Gene Expression Profiling, Gene Expression Regulation, Developmental, Gene Targeting, Maxillofacial Development, Mice, Mice, Transgenic, Sequence Deletion, Skull, General Science & Technology
Abstract

The shape of the human face and skull is largely genetically determined. However, the genomic basis of craniofacial morphology is incompletely understood and hypothesized to involve protein-coding genes, as well as gene regulatory sequences. We used a combination of epigenomic profiling, in vivo characterization of candidate enhancer sequences in transgenic mice, and targeted deletion experiments to examine the role of distant-acting enhancers in craniofacial development. We identified complex regulatory landscapes consisting of enhancers that drive spatially complex developmental expression patterns. Analysis of mouse lines in which individual craniofacial enhancers had been deleted revealed significant alterations of craniofacial shape, demonstrating the functional importance of enhancers in defining face and skull morphology. These results demonstrate that enhancers are involved in craniofacial development and suggest that enhancer sequence variation contributes to the diversity of human facial morphology.

Published
2013

4. Response to Comment on "Human-Specific Gain of Function in a Developmental Enhancer"

Author

Prabhakar, Shyam, primary, Visel, Axel, additional, Akiyama, Jennifer A., additional, Shoukry, Malak, additional, Lewis, Keith D., additional, Holt, Amy, additional, Plajzer-Frick, Ingrid, additional, Morrison, Harris, additional, FitzPatrick, David R., additional, Afzal, Veena, additional, Pennacchio, Len A., additional, Rubin, Edward M., additional, and Noonan, James P., additional

Published
2009
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