Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Hatice Ozel Abaan"'
Autor:
Stephen C J Parker, Jared Gartner, Isabel Cardenas-Navia, Xiaomu Wei, Hatice Ozel Abaan, Subramanian S Ajay, Nancy F Hansen, Lingyun Song, Umesh K Bhanot, J Keith Killian, Yevgeniy Gindin, Robert L Walker, Paul S Meltzer, James C Mullikin, Terrence S Furey, Gregory E Crawford, Steven A Rosenberg, Yardena Samuels, Elliott H Margulies
Publikováno v:
PLoS Genetics, Vol 8, Iss 8, p e1002871 (2012)
Much emphasis has been placed on the identification, functional characterization, and therapeutic potential of somatic variants in tumor genomes. However, the majority of somatic variants lie outside coding regions and their role in cancer progressio
Externí odkaz:
https://doaj.org/article/c2a545e050c64392b218f99a77987a41
Autor:
Rachel L Goldfeder, Stephen C J Parker, Subramanian S Ajay, Hatice Ozel Abaan, Elliott H Margulies
Publikováno v:
PLoS ONE, Vol 6, Iss 8, p e23683 (2011)
The ability to generate whole genome data is rapidly becoming commoditized. For example, a mammalian sized genome (∼3Gb) can now be sequenced using approximately ten lanes on an Illumina HiSeq 2000. Since lanes from different runs are often combine
Externí odkaz:
https://doaj.org/article/0f631d693d224570b1438c98354644ec
Autor:
Faith Pangilinan, David Watkins, David Bernard, Yue Chen, Ningzheng Dong, Qingyu Wu, Hatice Ozel‐Abaan, Manjit Kaur, Michele Caggana, Mark Morrissey, Marilyn L. Browne, James L. Mills, Carol Van Ryzin, Oleg Shchelochkov, Jennifer Sloan, Charles P. Venditti, Kyriakie Sarafoglou, David S. Rosenblatt, Denise M. Kay, Lawrence C. Brody
Publikováno v:
Am J Med Genet A
The biological and clinical significance of the p.E88del variant in the transcobalamin receptor, CD320, is unknown. This allele is annotated in ClinVar as likely benign, pathogenic, and of uncertain significance. To determine functional consequence a
Autor:
Hatice Ozel Abaan, Mary Ward, Cheryl D. Cropp, Lawrence C. Brody, Helene McNulty, Faith Pangilinan, Per Magne Ueland, Mary B. O’Neill, Anne M. Molloy, Barry Shane, Alexander F. Wilson, David M. McGaughey, Conal Cunningham, James L. Mills, James J. Strain, Miriam Casey, Aneliya Velkova, Joan E. Bailey-Wilson, Yoonhee Kim
Publikováno v:
The American Journal of Human Genetics. 98(5):869-882
Methylmalonic acid (MMA) is a by-product of propionic acid metabolism through the vitamin B12 (cobalamin)-dependent enzyme methylmalonyl CoA mutase. Elevated MMA concentrations are a hallmark of several inborn errors of metabolism and indicators of c
Publikováno v:
G3: Genes|Genomes|Genetics
DNA methylation is a dynamic process through which specific chromatin modifications can be stably transmitted from parent to daughter cells. A large body of work has suggested that DNA methylation influences gene expression by silencing gene promoter
Autor:
Hatice Ozel Abaan, Lori L. Bonnycastle, Nisc Comparative Sequencing Program, Francis S. Collins, Jamie K. Teer, Natsuyo Aoyama, Leslie G. Biesecker, Eric D. Green, Peter S. Chines, Amy J. Swift, Elliott H. Margulies, Thomas J. Albert, Nancy F. Hansen, James C. Mullikin
Publikováno v:
Genome Research. 20:1420-1431
Massively parallel DNA sequencing technologies have greatly increased our ability to generate large amounts of sequencing data at a rapid pace. Several methods have been developed to enrich for genomic regions of interest for targeted sequencing. We
Autor:
Loren Hansen, Stephen C. J. Parker, Thomas D. Tullius, Elliott H. Margulies, Hatice Ozel Abaan
Publikováno v:
Science. 324:389-392
The three-dimensional molecular structure of DNA, specifically the shape of the backbone and grooves of genomic DNA, can be dramatically affected by nucleotide changes, which can cause differences in protein-binding affinity and phenotype. We develop
Autor:
Corina E. Gonzalez, Mutlu Hayran, Tobey J. MacDonald, Hatice Ozel Abaan, Shannon Fallen, Jeffrey A. Toretsky, Felasfa M. Wodajo, Kevin Chen, Aykut Üren
Publikováno v:
Pediatric Blood & Cancer. 51:349-355
Background Osteosarcoma (OS) is a primary malignant tumor of the bone that typically presents in the second decade of life and has a poor prognosis, especially in metastatic cases. Wnt signaling contributes to the pathogenesis of tumors such as colon
Autor:
Barry Shane, Marilyn L. Browne, Anne Parle-McDermott, Hatice Ozel Abaan, James Troendle, John M. Scott, Michele Caggana, Lawrence C. Brody, Marie Sutton, Emily C. McGrath, Denise M. Kay, Peadar N. Kirke, James L. Mills, Faith Pangilinan, Anne M. Molloy
Publikováno v:
BMC Medical Genetics
BMC medical genetics, vol 15, iss 1
BMC medical genetics, vol 15, iss 1
Background Neural tube defects (NTDs), which are among the most common congenital malformations, are influenced by environmental and genetic factors. Low maternal folate is the strongest known contributing factor, making variants in genes in the fola
Autor:
Lingyun Song, Steven A. Rosenberg, Subramanian S. Ajay, Elliott H. Margulies, Nancy F. Hansen, Jared J. Gartner, James C. Mullikin, Xiaomu Wei, Isabel Cardenas-Navia, Terrence S. Furey, Yevgeniy Gindin, Umesh Bhanot, Paul S. Meltzer, Hatice Ozel Abaan, Robert L. Walker, Gregory E. Crawford, J. Keith Killian, Stephen C. J. Parker, Yardena Samuels
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 8, Iss 8, p e1002871 (2012)
PLoS Genetics, Vol 8, Iss 8, p e1002871 (2012)
Much emphasis has been placed on the identification, functional characterization, and therapeutic potential of somatic variants in tumor genomes. However, the majority of somatic variants lie outside coding regions and their role in cancer progressio