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18 results on '"Scott, Tiana M."'

1. Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

Author

Accogli, Andrea, Shakya, Saurabh, Yang, Taewoo, Insinna, Christine, Kim, Soo Yeon, Bell, David, Butov, Kirill R., Severino, Mariasavina, Niceta, Marcello, Scala, Marcello, Lee, Hyun Sik, Yoo, Taekyeong, Stauffer, Jimmy, Zhao, Huijie, Fiorillo, Chiara, Pedemonte, Marina, Diana, Maria C., Baldassari, Simona, Zakharova, Viktoria, Shcherbina, Anna, Rodina, Yulia, Fagerberg, Christina, Roos, Laura Sønderberg, Wierzba, Jolanta, Dobosz, Artur, Gerard, Amanda, Potocki, Lorraine, Rosenfeld, Jill A., Lalani, Seema R., Scott, Tiana M., Scott, Daryl, Azamian, Mahshid S., Louie, Raymond, Moore, Hannah W., Champaigne, Neena L., Hollingsworth, Grace, Torella, Annalaura, Nigro, Vincenzo, Ploski, Rafal, Salpietro, Vincenzo, Zara, Federico, Pizzi, Simone, Chillemi, Giovanni, Ognibene, Marzia, Cooney, Erin, Do, Jenny, Linnemann, Anders, Larsen, Martin J., Specht, Suzanne, Walters, Kylie J., Choi, Hee-Jung, Choi, Murim, Tartaglia, Marco, Youkharibache, Phillippe, Chae, Jong-Hee, Capra, Valeria, Park, Sung-Gyoo, and Westlake, Christopher J.

Published
2024
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2. PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects

Author

Petit, Florence, Longoni, Mauro, Wells, Julie, Maser, Richard S., Bogenschutz, Eric L., Dysart, Matthew J., Contreras, Hannah T.M., Frénois, Frederic, Pober, Barbara R., Clark, Robin D., Giampietro, Philip F., Ropers, Hilger H., Hu, Hao, Loscertales, Maria, Wagner, Richard, Ai, Xingbin, Brand, Harrison, Jourdain, Anne-Sophie, Delrue, Marie-Ange, Gilbert-Dussardier, Brigitte, Devisme, Louise, Keren, Boris, McCulley, David J., Qiao, Lu, Hernan, Rebecca, Wynn, Julia, Scott, Tiana M., Calame, Daniel G., Coban-Akdemir, Zeynep, Hernandez, Patricia, Hernandez-Garcia, Andres, Yonath, Hagith, Lupski, James R., Shen, Yufeng, Chung, Wendy K., Scott, Daryl A., Bult, Carol J., Donahoe, Patricia K., and High, Frances A.

Published
2023
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3. Cell-free reconstitution of HIV-1 innate immune sensing reveals the capsid is a molecular cloak that protects reverse transcripts from cGAS

Author

Scott, Tiana M., primary, Arnold, Lydia M., additional, Powers, Jordan A., additional, McCann, Delaney A., additional, Christensen, Devin E., additional, Zhou, Wen, additional, Torrez, Rachel M., additional, Iwasa, Janet H., additional, Kranzusch, Philip J., additional, Sundquist, Wesley I., additional, and Johnson, Jarrod S., additional

Published
2024
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4. Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Author

Brunet, Theresa, McWalter, Kirsty, Mayerhanser, Katharina, Anbouba, Grace M., Armstrong-Javors, Amy, Bader, Ingrid, Baugh, Evan, Begtrup, Amber, Bupp, Caleb P., Callewaert, Bert L., Cereda, Anna, Cousin, Margot A., Del Rey Jimenez, Juan C., Demmer, Laurie, Dsouza, Nikita R., Fleischer, Nicole, Gavrilova, Ralitza H., Ghate, Sumedha, Graf, Elisabeth, Green, Andrew, Green, Sarah R., Iascone, Maria, Kdissa, Ameni, Klee, Dirk, Klee, Eric W., Lancaster, Emily, Lindstrom, Kristin, Mayr, Johannes A., McEntagart, Meriel, Meeks, Naomi J. L., Mittag, Dana, Moore, Harrison, Olsen, Anne K., Ortiz, Damara, Parsons, Gretchen, Pena, Loren D. M., Person, Richard E., Punj, Sumit, Ramos-Rivera, Gonzalo Alonso, Sacoto, Maria J. Guillen, Bradley Schaefer, G., Schnur, Rhonda E., Scott, Tiana M., Scott, Daryl A., Serbinski, Carolyn R., Shashi, Vandana, Siu, Victoria M., Stadheim, Barbro Fossøy, Sullivan, Jennifer A., Švantnerová, Jana, Velsher, Lea, Wargowski, David S., Wentzensen, Ingrid M., Wieczorek, Dagmar, Winkelmann, Juliane, Yap, Patrick, Zech, Michael, Zimmermann, Michael T., Meitinger, Thomas, Distelmaier, Felix, and Wagner, Matias

Published
2021
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5. A large-scale genetic screen identifies genes essential for motility in Agrobacterium fabrum

Author

Calvopina-Chavez, Diana G., primary, Howarth, Robyn E., additional, Memmott, Audrey K., additional, Pech Gonzalez, Oscar H., additional, Hafen, Caleb B., additional, Jensen, Kyson T., additional, Benedict, Alex B., additional, Altman, Jessica D., additional, Burnside, Brittany S., additional, Childs, Justin S., additional, Dallon, Samuel W., additional, DeMarco, Alexa C., additional, Flindt, Kirsten C., additional, Grover, Sarah A., additional, Heninger, Elizabeth, additional, Iverson, Christina S., additional, Johnson, Abigail K., additional, Lopez, Jack B., additional, Meinzer, McKay A., additional, Moulder, Brook A., additional, Moulton, Rebecca I., additional, Russell, Hyrum S., additional, Scott, Tiana M., additional, Shiobara, Yuka, additional, Taylor, Mason D., additional, Tippets, Kathryn E., additional, Vainerere, Kayla M., additional, Von Wallwitz, Isabella C., additional, Wagley, Madison, additional, Wiley, Megumi S., additional, Young, Naomi J., additional, and Griffitts, Joel S., additional

Published
2023
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8. Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease–associated loci for BAFopathies

Author

Chen, Chun-An, primary, Lattier, John, additional, Zhu, Wenmiao, additional, Rosenfeld, Jill, additional, Wang, Lei, additional, Scott, Tiana M., additional, Du, Haowei, additional, Patel, Vipulkumar, additional, Dang, Anh, additional, Magoulas, Pilar, additional, Streff, Haley, additional, Sebastian, Jessica, additional, Svihovec, Shayna, additional, Curry, Kathryn, additional, Delgado, Mauricio R., additional, Hanchard, Neil A., additional, Lalani, Seema, additional, Marom, Ronit, additional, Madan-Khetarpal, Suneeta, additional, Saenz, Margarita, additional, Dai, Hongzheng, additional, Meng, Linyan, additional, Xia, Fan, additional, Bi, Weimin, additional, Liu, Pengfei, additional, Posey, Jennifer E., additional, Scott, Daryl A., additional, Lupski, James R., additional, Eng, Christine M., additional, Xiao, Rui, additional, and Yuan, Bo, additional

Published
2022
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9. Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency

Author

Gofin, Yoel, primary, Wang, Tianyun, additional, Gillentine, Madelyn A., additional, Scott, Tiana M., additional, Berry, Aliska M., additional, Azamian, Mahshid S., additional, Genetti, Casie, additional, Agrawal, Pankaj B., additional, Picker, Jonathan, additional, Wojcik, Monica H., additional, Delgado, Mauricio R., additional, Lynch, Sally A., additional, Scherer, Stephen W., additional, Howe, Jennifer L., additional, Bacino, Carlos A., additional, DiTroia, Stephanie, additional, VanNoy, Grace E., additional, O'Donnell‐Luria, Anne, additional, Lalani, Seema R., additional, Graf, William D., additional, Rosenfeld, Jill A., additional, Eichler, Evan E., additional, Earl, Rachel K., additional, and Scott, Daryl A., additional

Published
2022
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12. Missense variants affecting the actin-binding domains of PLS3 cause X-linked congenital diaphragmatic hernia and body wall defects

Author

Petit, Florence, primary, Longoni, Mauro, additional, Wells, Julie, additional, Maser, Richard, additional, Dysart, Matthew J., additional, Contreras, Hannah T.M., additional, Frénois, Frederic, additional, Bogenschutz, Eric, additional, Pober, Barbara R., additional, Clark, Robin D., additional, Giampietro, Philip F., additional, Ropers, Hilger H., additional, Hu, Hao, additional, Loscertales, Maria, additional, Ai, Xingbin, additional, Brand, Harrison, additional, Jourdain, Anne-Sophie, additional, Delrue, Marie-Ange, additional, Gilbert-Dussardier, Brigitte, additional, Devisme, Louise, additional, Keren, Boris, additional, McCulley, David J., additional, Qiao, Lu, additional, Hernan, Rebecca, additional, Wynn, Julia, additional, Scott, Tiana M., additional, Calame, Daniel G., additional, Coban-Akdemir, Zeynep, additional, Hernandez, Patricia, additional, Hernandez-Garcia, Andres, additional, Yonath, Hagith, additional, Lupski, James R., additional, Shen, Yufeng, additional, Chung, Wendy K., additional, Scott, Daryl A., additional, Bult, Carol J., additional, Donahoe, Patricia K., additional, and High, Frances A., additional

Published
2021
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15. BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

Author

Barish, Scott, primary, Barakat, Tahsin Stefan, additional, Michel, Brittany C., additional, Mashtalir, Nazar, additional, Phillips, Jennifer B., additional, Valencia, Alfredo M., additional, Ugur, Berrak, additional, Wegner, Jeremy, additional, Scott, Tiana M., additional, Bostwick, Brett, additional, Murdock, David R., additional, Dai, Hongzheng, additional, Perenthaler, Elena, additional, Nikoncuk, Anita, additional, van Slegtenhorst, Marjon, additional, Brooks, Alice S., additional, Keren, Boris, additional, Nava, Caroline, additional, Mignot, Cyril, additional, Douglas, Jessica, additional, Rodan, Lance, additional, Nowak, Catherine, additional, Ellard, Sian, additional, Stals, Karen, additional, Lynch, Sally Ann, additional, Faoucher, Marie, additional, Lesca, Gaetan, additional, Edery, Patrick, additional, Engleman, Kendra L., additional, Zhou, Dihong, additional, Thiffault, Isabelle, additional, Herriges, John, additional, Gass, Jennifer, additional, Louie, Raymond J., additional, Stolerman, Elliot, additional, Washington, Camerun, additional, Vetrini, Francesco, additional, Otsubo, Aiko, additional, Pratt, Victoria M., additional, Conboy, Erin, additional, Treat, Kayla, additional, Shannon, Nora, additional, Camacho, Jose, additional, Wakeling, Emma, additional, Yuan, Bo, additional, Chen, Chun-An, additional, Rosenfeld, Jill A., additional, Westerfield, Monte, additional, Wangler, Michael, additional, Yamamoto, Shinya, additional, Kadoch, Cigall, additional, Scott, Daryl A., additional, and Bellen, Hugo J., additional

Published
2020
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16. Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.

Author

Scott, Tiana M., Campbell, Ian M., Hernandez-Garcia, Andres, Lalani, Seema R., Pengfei Liu, Shaw, Chad A., Rosenfeld, Jill A., and Scott, Daryl A.

Abstract

Background Congenital diaphragmatic hernia (CDH) is a life-threatening birth defect that often co-occurs with non-hernia-related anomalies (CDH+). While copy number variant (CNV) analysis is often employed as a diagnostic test for CDH+, clinical exome sequencing (ES) has not been universally adopted. Methods We analysed a clinical database of ~12 000 test results to determine the diagnostic yields of ES in CDH+ and to identify new phenotypic expansions. Results Among the 76 cases with an indication of CDH+, a molecular diagnosis was made in 28 cases for a diagnostic yield of 37% (28/76). A provisional diagnosis was made in seven other cases (9%; 7/76). Four individuals had a diagnosis of Kabuki syndrome caused by frameshift variants in KMT2D. Putatively deleterious variants in ALG12 and EP300 were each found in two individuals, supporting their role in CDH development. We also identified individuals with de novo pathogenic variants in FOXP1 and SMARCA4, and compound heterozygous pathogenic variants in BRCA2. The role of these genes in CDH development is supported by the expression of their mouse homologs in the developing diaphragm, their high CDH-specific pathogenicity scores generated using a previously validated algorithm for genome-scale knowledge synthesis and previously published case reports. Conclusion We conclude that ES should be ordered in cases of CDH+ when a specific diagnosis is not suspected and CNV analyses are negative. Our results also provide evidence in favour of phenotypic expansions involving CDH for genes associated with ALG12-congenital disorder of glycosylation, Rubinstein-Taybi syndrome, Fanconi anaemia, Coffin-Siris syndrome and FOXP1-related disorders. [ABSTRACT FROM AUTHOR]

Published
2022
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17. BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

Author

Scott, Tiana M., primary, Guo, Hui, additional, Eichler, Evan E., additional, Rosenfeld, Jill A., additional, Pang, Kaifang, additional, Liu, Zhandong, additional, Lalani, Seema, additional, Bi, Weimin, additional, Yang, Yaping, additional, Bacino, Carlos A., additional, Streff, Haley, additional, Lewis, Andrea M., additional, Koenig, Mary K., additional, Thiffault, Isabelle, additional, Bellomo, Allison, additional, Everman, David B., additional, Jones, Julie R., additional, Stevenson, Roger E., additional, Bernier, Raphael, additional, Gilissen, Christian, additional, Pfundt, Rolph, additional, Hiatt, Susan M., additional, Cooper, Gregory M., additional, Holder, Jimmy L., additional, and Scott, Daryl A., additional

Published
2020
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18. Cell-free assays reveal that the HIV-1 capsid protects reverse transcripts from cGAS.

Author

Scott TM, Arnold LM, Powers JA, McCann DA, Rowe AB, Christensen DE, Pereira MJ, Zhou W, Torrez RM, Iwasa JH, Kranzusch PJ, Sundquist WI, and Johnson JS

Abstract

Retroviruses can be detected by the innate immune sensor cyclic GMP-AMP synthase (cGAS), which recognizes reverse-transcribed DNA and activates an antiviral response. However, the extent to which HIV-1 shields its genome from cGAS recognition remains unclear. To study this process in mechanistic detail, we reconstituted reverse transcription, genome release, and innate immune sensing of HIV-1 in a cell-free system. We found that wild-type HIV-1 capsids protect viral genomes from cGAS even after completing reverse transcription. Viral DNA could be "deprotected" by thermal stress, capsid mutations, or reduced concentrations of inositol hexakisphosphate (IP6) that destabilize the capsid. Strikingly, the capsid inhibitor lenacapavir also disrupted viral cores and dramatically potentiated cGAS activity, both in vitro and in cellular infections. Our results provide biochemical evidence that the HIV-1 capsid lattice conceals the genome from cGAS and that chemical or physical disruption of the viral core can expose HIV-1 DNA and activate innate immune signaling.

Published
2024
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