Search Results - "Vaccaro, Courtney"

An analysis of differential gene expression in peripheral nerve and muscle utilizing RNA sequencing after polyethylene glycol nerve fusion in a rat sciatic nerve injury model by Weiss, Samantha N, Legato, Joseph M, Liu, Yichuan, Vaccaro, Courtney N, Da Silva, Renata Pellegrino, Miskiel, Sandra, Gilbert, Grace V, Hakonarson, Hakon, Fuller, David A, Buono, Russell J

“…Application of polyethylene glycol (PEG) to a peripheral nerve injury at the time of primary neurorrhaphy is thought to prevent Wallerian degeneration via…”
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Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic Analysis by Li, Jin, Li, Yun R., Glessner, Joseph T., Yang, Jie, March, Michael E., Kao, Charlly, Vaccaro, Courtney N., Bradfield, Jonathan P., Li, Junyi, Mentch, Frank D., Qu, Hui‐Qi, Qi, Xiaohui, Chang, Xiao, Hou, Cuiping, Abrams, Debra J., Qiu, Haijun, Wei, Zhi, Connolly, John J., Wang, Fengxiang, Snyder, James, Flatø, Berit, Thompson, Susan D., Langefeld, Carl D., Lie, Benedicte A., Munro, Jane E., Wise, Carol, Sleiman, Patrick M. A., Hakonarson, Hakon

“…Objective Juvenile idiopathic arthritis (JIA) is the most common chronic immune‐mediated joint disease among children and encompasses a heterogeneous group of…”
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Metabolic Insight into Glioma Heterogeneity: Mapping Whole Exome Sequencing to In Vivo Imaging with Stereotactic Localization and Deep Learning by Servati, Mahsa, Vaccaro, Courtney N, Diller, Emily E, Pellegrino Da Silva, Renata, Mafra, Fernanda, Cao, Sha, Stanley, Katherine B, Cohen-Gadol, Aaron A, Parker, Jason G

“…Intratumoral heterogeneity (ITH) complicates the diagnosis and treatment of glioma, partly due to the diverse metabolic profiles driven by underlying genomic…”
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Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel by Leung, Marco L., Watson, Deborah J., Vaccaro, Courtney N., Mafra, Fernanda, Wenocur, Adam, Wang, Tiancheng, Hakonarson, Hakon, Santani, Avni

“…Cystic fibrosis (CF) is one of the most common genetic diseases worldwide with high carrier frequencies across different ethnicities. Next generation…”
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Frequency of MC4R Pathway Variants in a Large US Cohort of Patients with Severe Obesity by Moeller, Ida Hatoum, Kleyn, Patrick, Sleiman, Patrick, Vaccaro, Courtney, Hakonarson, Hakon, Bahl, Samira, Antao, Tiago, Garfield, Alastair

“…Background: The melanocortin 4 receptor (MC4R) pathway is critical for the regulation of energy balance. Variants within genes comprising this pathway,…”
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GATA1 controls numbers of hematopoietic progenitors and their response to autoimmune neuroinflammation by Hwang, Daniel, Ishikawa, Larissa Lumi Watanabe, Seyedsadr, Maryam S., Mari, Elisabeth, Kasimoglu, Ezgi, Sahin, Ziver, Boehm, Alexandra, Jang, Soohwa, Rasouli, Javad, Vaccaro, Courtney, Gonzalez, Michael, Hakonarson, Hakon, Rostami, Abdolmohamad, Zhang, Guang-Xian, Ciric, Bogoljub

“…Abstract GATA-binding factor 1 (GATA1) is a transcription factor that governs the development and function of multiple hematopoietic cell lineages. GATA1 is…”
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Genetic Analysis for Type 1 Diabetes Genes in Juvenile Dermatomyositis Unveils Genetic Disease Overlap by Qu, Hui-Qi, Qu, Jingchun, Vaccaro, Courtney, Chang, Xiao, Mentch, Frank, Li, Jin, Mafra, Fernanda, Nguyen, Kenny, Gonzalez, Michael, March, Michael, Pellegrino, Renata, Glessner, Joseph, Sleiman, Patrick, Kao, Charlly, Hakonarson, Hakon

“…Juvenile dermatomyositis (JDM) is a serious autoimmune and complex genetic disease. Another autoimmune genetic disease, type 1 diabetes (T1D), has been…”
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Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes by Glessner, Joseph T., Ningappa, Mylarappa B., Ngo, Kim A., Zahid, Maliha, So, Juhoon, Higgs, Brandon W., Sleiman, Patrick M.A., Narayanan, Tejaswini, Ranganathan, Sarangarajan, March, Michael, Prasadan, Krishna, Vaccaro, Courtney, Reyes-Mugica, Miguel, Velazquez, Jeremy, Salgado, Claudia M., Ebrahimkhani, Mo R., Schmitt, Lori, Rajasundaram, Dhivyaa, Paul, Morgan, Pellegrino, Renata, Gittes, George K., Li, Dong, Wang, Xiang, Billings, Jonathan, Squires, Robert, Ashokkumar, Chethan, Sharif, Khalid, Kelly, Deirdre, Dhawan, Anil, Horslen, Simon, Lo, Cecilia W., Shin, Donghun, Subramaniam, Shankar, Hakonarson, Hakon, Sindhi, Rakesh

“…Biliary atresia (BA) is poorly understood and leads to liver transplantation (LT), with the requirement for and associated risks of lifelong immunosuppression,…”
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Expanding the genetic landscape of oral‐facial‐digital syndrome with two novel genes by Strong, Alanna, Simone, Laurie, Krentz, Anthony, Vaccaro, Courtney, Watson, Deborah, Ron, Hayley, Kalish, Jennifer M., Pedro, Helio F., Zackai, Elaine H., Hakonarson, Hakon

“…Oral‐facial‐digital syndromes (OFDS) are a heterogeneous and rare group of Mendelian disorders characterized by developmental abnormalities of the oral cavity,…”
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A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213 by Strong, Alanna, O'Grady, Gina, Shih, Evelyn, Bishop, Jonathan R., Loomes, Kathleen, Diamond, Tamir, Hartung, Erum A., Wong, William, Cuddapah, Sanmati, Cahill, Anne Marie, Hou, Cuiping, Slater, Diana, Vaccaro, Courtney, Watson, Deborah, Li, Dong, Hakonarson, Hakon

“…Ring‐finger protein 213 (RNF213) encodes a protein of unknown function believed to play a role in cellular metabolism and angiogenesis. Gene variants are…”
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Lymphocytes Utilize Somatic Mutations, Epigenetic Silencing, and the Proteasome to Escape Truncated WASP Expression by Khanna, Caroline, Le Coz, Carole, Vaccaro, Courtney, Pillarisetti, Piyush, Knox, Ainsley V. C., Sy, Andrew, Behrens, Edward M., Buchbinder, David, Romberg, Neil

“…Wiskott-Aldrich Syndrome Protein (WASP) deficiency causes Wiskott-Aldrich Syndrome (WAS), a sex-linked disorder characterized by combined immunodeficiency,…”
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TBX6 as a cause of a combined skeletal‐kidney dysplasia syndrome by Li, Guozhuang, Strong, Alanna, Wang, Haojun, Kim, Ji‐Sun, Watson, Deborah, Zhao, Sen, Vaccaro, Courtney, Hartung, Erum, Hakonarson, Hakon, Zhang, Terry Jianguo, Giampietro, Philip F., Wu, Nan

“…TBX6 encodes transcription‐factor box 6, a transcription factor critical to paraxial mesoderm segmentation and somitogenesis during embryonic development. TBX6…”
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A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response by Strong, Alanna, March, Michael E., Cardinale, Christopher J., Kim, Sophia E., Merves, Jamie, Whitworth, Hilary, Raffini, Leslie, Larosa, Christopher, Copelovitch, Lawrence, Hou, Cuiping, Slater, Diana, Vaccaro, Courtney, Watson, Deborah, Zackai, Elaine H., Billheimer, Jeffrey, Hakonarson, Hakon

“…Ichthyosis follicularis, atrichia, and photophobia syndrome (IFAP syndrome) is a rare, X‐linked disorder caused by pathogenic variants in membrane‐bound…”
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A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature by Strong, Alanna, Rao, Soumya, Hardenberg, Sandra, Li, Dong, Cox, Liza L., Lee, Paul C., Zhang, Li Q., Awotoye, Waheed, Diamond, Tamir, Gold, Jessica, Gooch, Catherine, Gowans, Lord Jephthah Joojo, Hakonarson, Hakon, Hing, Anne, Loomes, Kathleen, Martin, Nicole, Marazita, Mary L., Mononen, Tarja, Piccoli, David, Pfundt, Rolph, Raskin, Salmo, Scherer, Stephen W., Sobriera, Nara, Vaccaro, Courtney, Wang, Xiang, Watson, Deborah, Weksberg, Rosanna, Bhoj, Elizabeth, Murray, Jeffrey C., Lidral, Andrew C., Butali, Azeez, Buckley, Michael F., Roscioli, Tony, Koolen, David A., Seaver, Laurie H., Prows, Cynthia A., Stottmann, Rolf W., Cox, Timothy C.

“…AMOTL1 encodes angiomotin‐like protein 1, an actin‐binding protein that regulates cell polarity, adhesion, and migration. The role of AMOTL1 in human disease…”
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GATA1 controls numbers of hematopoietic progenitors and their response to autoimmune neuroinflammation by Hwang, Daniel, Ishikawa, Larissa Lumi Watanabe, Seyedsadr, Maryam S., Mari, Elisabeth, Kasimoglu, Ezgi, Sahin, Ziver, Boehm, Alexandra, Jang, Soohwa, Rasouli, Javad, Vaccaro, Courtney, Gonzalez, Michael, Hakonarson, Hakon, Rostami, Abdolmohamad, Zhang, Guang-Xian, Ciric, Bogoljub

“…•ΔdblGATA mice are resistant to EAE but not due to their lack of eosinophils.•GATA1 regulates numbers of HSPCs in the BM, and the ΔdblGATA mutation causes a…”
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Red light districts and segregated prostitution in progressive era Chicago: A demographic survey of the levee in 1910 by Vaccaro, Courtney

“…This study is intended to serve as a demographic overview of Chicago's red light district, the Levee, as represented in 1910. Much has been written of…”
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Mapping Whole Exome Sequencing to In Vivo Imaging with Stereotactic Localization and Deep Learning by Servati, Mahsa, Vaccaro, Courtney N, Diller, Emily E, Da Silva, Renata Pellegrino, Mafra, Fernanda, Cao, Sha, Stanley, Katherine B, Cohen-Gadol, Aaron, Parker, Jason G

“…This study presents a multi-faceted approach combining stereotactic biopsy with standard clinical open-craniotomy for sample collection, voxel-wise analysis of…”
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A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213 by Strong, Alanna, O'Grady, Gina, Shih, Evelyn, Bishop, Jonathan R, Loomes, Kathleen, Diamond, Tamir, Hartung, Erum A, Wong, William, Cuddapah, Sanmati, Cahill, Anne Marie, Hou, Cuiping, Slater, Diana, Vaccaro, Courtney, Watson, Deborah, Li, Dong, Hakonarson, Hakon

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