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3. Works Cited

Author

Mews, Constant J., Crossley, John N., Jeffreys, Catherine, McKinnon, Leigh, and Williams, Carol J.

Published
2011

4. Back Cover

Author

Mews, Constant J., Crossley, John N., Jeffreys, Catherine, McKinnon, Leigh, and Williams, Carol J.

Published
2011

5. Lexicon

Author

Mews, Constant J., Crossley, John N., Jeffreys, Catherine, McKinnon, Leigh, and Williams, Carol J.

Published
2011

6. Outline of the Ars musice

Author

Mews, Constant J., Crossley, John N., Jeffreys, Catherine, McKinnon, Leigh, and Williams, Carol J.

Published
2011

7. Abbreviations

Author

Mews, Constant J., Crossley, John N., Jeffreys, Catherine, McKinnon, Leigh, and Williams, Carol J.

Published
2011

8. Introduction

Author

Mews, Constant J., Crossley, John N., Jeffreys, Catherine, McKinnon, Leigh, and Williams, Carol J.

Published
2011

9. Contents

Author

Mews, Constant J., Crossley, John N., Jeffreys, Catherine, McKinnon, Leigh, and Williams, Carol J.

Published
2011

10. Title Page, Copyright

Author

Mews, Constant J., Crossley, John N., Jeffreys, Catherine, McKinnon, Leigh, and Williams, Carol J.

Published
2011

15. A family of process-based models to simulate landscape use by multiple taxa

Author

Gardner, Emma, Robinson, Robert A., Julian, Angela, Boughey, Katherine, Langham, Steve, Tse-Leon, Jenny, Petrovskii, Sergei, Baker, David J., Bellamy, Chloe, Buxton, Andrew, Franks, Samantha, Monk, Chris, Morris, Nicola, Park, Kirsty J., Petrovan, Silviu, Pitt, Katie, Taylor, Rachel, Turner, Rebecca K., Allain, Steven J. R., Bradley, Val, Broughton, Richard K., Cartwright, Mandy, Clarke, Kevin, Cranfield, Jon, Fuentes-Montemayor, Elisa, Gandola, Robert, Gent, Tony, Hinsley, Shelley A., Madsen, Thomas, Reading, Chris, Redhead, John W., Reveley, Sonia, Wilkinson, John, Williams, Carol, Woodward, Ian, Baker, John, Briggs, Philip, Dyason, Sheila, Langton, Steve, Mawby, Ashlea, Pywell, Richard F., and Bullock, James M.

Published
2024
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18. First Peoples’ knowledge leads scientists to reveal ‘fairy circles’ and termite linyji are linked in Australia

Author

Walsh, Fiona, Bidu, Gladys Karimarra, Bidu, Ngamaru Karimarra, Evans, Theodore A., Judson, Thelma Milangka, Kendrick, Peter, Michaels, Alice Nampijinpa, Moore, Danae, Nelson, Matilda, Oldham, Carolyn, Schofield, Josef, Sparrow, Ashley, Taylor, Muuki Karimarra, Taylor, Desmond Purungu, Wayne, Lee Nangala, and Williams, Carol Milangka

Published
2023
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19. Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations

Author

Zhao, Shujuan, Mekbib, Kedous Y., van der Ent, Martijn A., Allington, Garrett, Prendergast, Andrew, Chau, Jocelyn E., Smith, Hannah, Shohfi, John, Ocken, Jack, Duran, Daniel, Furey, Charuta G., Hao, Le Thi, Duy, Phan Q., Reeves, Benjamin C., Zhang, Junhui, Nelson-Williams, Carol, Chen, Di, Li, Boyang, Nottoli, Timothy, Bai, Suxia, Rolle, Myron, Zeng, Xue, Dong, Weilai, Fu, Po-Ying, Wang, Yung-Chun, Mane, Shrikant, Piwowarczyk, Paulina, Fehnel, Katie Pricola, See, Alfred Pokmeng, Iskandar, Bermans J., Aagaard-Kienitz, Beverly, Moyer, Quentin J., Dennis, Evan, Kiziltug, Emre, Kundishora, Adam J., DeSpenza, Jr., Tyrone, Greenberg, Ana B. W., Kidanemariam, Seblewengel M., Hale, Andrew T., Johnston, James M., Jackson, Eric M., Storm, Phillip B., Lang, Shih-Shan, Butler, William E., Carter, Bob S., Chapman, Paul, Stapleton, Christopher J., Patel, Aman B., Rodesch, Georges, Smajda, Stanislas, Berenstein, Alejandro, Barak, Tanyeri, Erson-Omay, E. Zeynep, Zhao, Hongyu, Moreno-De-Luca, Andres, Proctor, Mark R., Smith, Edward R., Orbach, Darren B., Alper, Seth L., Nicoli, Stefania, Boggon, Titus J., Lifton, Richard P., Gunel, Murat, King, Philip D., Jin, Sheng Chih, and Kahle, Kristopher T.

Published
2023
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20. Human genetics and molecular genomics of Chiari malformation type 1

Author

Mekbib, Kedous Y., Muñoz, William, Allington, Garrett, McGee, Stephen, Mehta, Neel H., Shofi, John P., Fortes, Carla, Le, Hao Thi, Nelson-Williams, Carol, Nanda, Pranav, Dennis, Evan, Kundishora, Adam J., Khanna, Arjun, Smith, Hannah, Ocken, Jack, Greenberg, Ana B.W., Wu, Rui, Moreno-De-Luca, Andres, DeSpenza, Tyrone, Jr, Zhao, Shujuan, Marlier, Arnaud, Jin, Sheng Chih, Alper, Seth L., Butler, William E., and Kahle, Kristopher T.

Published
2023
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21. Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

Author

Kundishora, Adam J., Allington, Garrett, McGee, Stephen, Mekbib, Kedous Y., Gainullin, Vladimir, Timberlake, Andrew T., Nelson-Williams, Carol, Kiziltug, Emre, Smith, Hannah, Ocken, Jack, Shohfi, John, Allocco, August, Duy, Phan Q., Elsamadicy, Aladine A., Dong, Weilai, Zhao, Shujuan, Wang, Yung-Chun, Qureshi, Hanya M., DiLuna, Michael L., Mane, Shrikant, Tikhonova, Irina R., Fu, Po-Ying, Castaldi, Christopher, López-Giráldez, Francesc, Knight, James R., Furey, Charuta G., Carter, Bob S., Haider, Shozeb, Moreno-De-Luca, Andres, Alper, Seth L., Gunel, Murat, Millan, Francisca, Lifton, Richard P., Torene, Rebecca I., Jin, Sheng Chih, and Kahle, Kristopher T.

Published
2023
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22. De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis

Author

Timberlake, Andrew T., Kiziltug, Emre, Jin, Sheng Chih, Nelson-Williams, Carol, Loring, Erin, Allocco, August, Marlier, Arnaud, Banka, Siddharth, Stuart, Helen, Passos-Buenos, Maria Rita, Rosa, Rafael, Rogatto, Silvia R., Tonne, Elin, Stiegler, Amy L., Boggon, Titus J., Alperovich, Michael, Steinbacher, Derek, Staffenberg, David A., Flores, Roberto L., Persing, John A., Kahle, Kristopher T., and Lifton, Richard P.

Published
2023
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24. Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus

Author

Duy, Phan Q., Weise, Stefan C., Marini, Claudia, Li, Xiao-Jun, Liang, Dan, Dahl, Peter J., Ma, Shaojie, Spajic, Ana, Dong, Weilai, Juusola, Jane, Kiziltug, Emre, Kundishora, Adam J., Koundal, Sunil, Pedram, Maysam Z., Torres-Fernández, Lucia A., Händler, Kristian, De Domenico, Elena, Becker, Matthias, Ulas, Thomas, Juranek, Stefan A., Cuevas, Elisa, Hao, Le Thi, Jux, Bettina, Sousa, André M. M., Liu, Fuchen, Kim, Suel-Kee, Li, Mingfeng, Yang, Yiying, Takeo, Yutaka, Duque, Alvaro, Nelson-Williams, Carol, Ha, Yonghyun, Selvaganesan, Kartiga, Robert, Stephanie M., Singh, Amrita K., Allington, Garrett, Furey, Charuta G., Timberlake, Andrew T., Reeves, Benjamin C., Smith, Hannah, Dunbar, Ashley, DeSpenza, Jr., Tyrone, Goto, June, Marlier, Arnaud, Moreno-De-Luca, Andres, Yu, Xin, Butler, William E., Carter, Bob S., Lake, Evelyn M. R., Constable, R. Todd, Rakic, Pasko, Lin, Haifan, Deniz, Engin, Benveniste, Helene, Malvankar, Nikhil S., Estrada-Veras, Juvianee I., Walsh, Christopher A., Alper, Seth L., Schultze, Joachim L., Paeschke, Katrin, Doetzlhofer, Angelika, Wulczyn, F. Gregory, Jin, Sheng Chih, Lifton, Richard P., Sestan, Nenad, Kolanus, Waldemar, and Kahle, Kristopher T.

Published
2022
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25. TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus

Author

Duy, Phan Q, primary, Jux, Bettina, additional, Zhao, Shujuan, additional, Mekbib, Kedous Y, additional, Dennis, Evan, additional, Dong, Weilai, additional, Nelson-Williams, Carol, additional, Mehta, Neel H, additional, Shohfi, John P, additional, Juusola, Jane, additional, Allington, Garrett, additional, Smith, Hannah, additional, Marlin, Sandrine, additional, Belhous, Kahina, additional, Monteleone, Berrin, additional, Schaefer, G Bradley, additional, Pisarska, Margareta D, additional, Vásquez, Jaime, additional, Estrada-Veras, Juviannee I, additional, Keren, Boris, additional, Mignot, Cyril, additional, Flore, Leigh A, additional, Palafoll, Irene V, additional, Alper, Seth L, additional, Lifton, Richard P, additional, Haider, Shozeb, additional, Moreno-De-Luca, Andres, additional, Jin, Sheng Chih, additional, Kolanus, Waldemar, additional, and Kahle, Kristopher T, additional

Published
2024
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26. PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans

Author

Barak, Tanyeri, Ristori, Emma, Ercan-Sencicek, A. Gulhan, Miyagishima, Danielle F., Nelson-Williams, Carol, Dong, Weilai, and Jin, Sheng Chih

Subjects
Gene mutations -- Health aspects, Intracranial aneurysms -- Diagnosis -- Care and treatment -- Risk factors, Neovascularization -- Methods -- Health aspects, Peptidyl transferases -- Testing, Biological sciences, Health
Abstract

Intracranial aneurysm (IA) rupture leads to subarachnoid hemorrhage, a sudden-onset disease that often causes death or severe disability. Although genome-wide association studies have identified common genetic variants that increase IA risk moderately, the contribution of variants with large effect remains poorly defined. Using whole-exome sequencing, we identified significant enrichment of rare, deleterious mutations in PPIL4, encoding peptidyl-prolyl cis-trans isomerase-like 4, in both familial and index IA cases. Ppil4 depletion in vertebrate models causes intracerebral hemorrhage, defects in cerebrovascular morphology and impaired Wnt signaling. Wild-type, but not IA-mutant, PPIL4 potentiates Wnt signaling by binding JMJD6, a known angiogenesis regulator and Wnt activator. These findings identify a novel PPIL4-dependent Wnt signaling mechanism involved in brain-specific angiogenesis and maintenance of cerebrovascular integrity and implicate PPIL4 gene mutations in the pathogenesis of IA. Genomic analyses in individuals with index and familial intracranial aneurysms and experiments in vertebrate models identify pathogenic variants in the PPIL4 gene implicated in cerebral angiogenesis and cerebrovascular integrity, through the Wnt signaling pathway., Author(s): Tanyeri Barak [sup.1] [sup.2] [sup.3] [sup.4] , Emma Ristori [sup.2] [sup.5] , A. Gulhan Ercan-Sencicek [sup.1] [sup.2] [sup.3] [sup.4] , Danielle F. Miyagishima [sup.1] [sup.2] [sup.3] [sup.4] , Carol [...]

Published
2021
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27. Effects of oral anticoagulation for atrial fibrillation after spontaneous intracranial haemorrhage in the UK: a randomised, open-label, assessor-masked, pilot-phase, non-inferiority trial

Author

Al-Shahi Salman, Rustam, Keerie, Catriona, Stephen, Jacqueline, Lewis, Steff, Norrie, John, Dennis, Martin S., Newby, David E., Wardlaw, Joanna M., Lip, Gregory Y.H., Parry-Jones, Adrian, White, Philip M., Baigent, Colin, Lasserson, Dan, Oliver, Colin, O'Mahony, Fiach, Amoils, Shannon, Bamford, John, Armitage, Jane, Emberson, Jonathan, Rinkel, Gabriël J.R., Lowe, Gordon, Innes, Karen, Adamczuk, Kasia, Dinsmore, Lynn, Drever, Jonathan, Milne, Garry, Walker, Allan, Hutchison, Aidan, Williams, Carol, Fraser, Ruth, Anderson, Rosemary, Covil, Kate, Stewart, Kelly, Rees, Jessica, Hall, Peter, Bullen, Alistair, Stoddart, Andrew, Moullaali, Tom J., Palmer, Jeb, Sakka, Eleni, Perthen, Joanne, Lyttle, Nicola, Samarasekera, Neshika, MacRaild, Allan, Burgess, Seona, Teasdale, Jessica, Coakley, Michelle, Taylor, Pat, Blair, Gordon, Whiteley, William, Shenkin, Susan, Clancy, Una, Macleod, Malcolm, Sutherland, Rachel, Moullaali, Tom, Barugh, Amanda, Lerpiniere, Christine, Moreton, Fiona, Fethers, Nicholas, Anjum, Tal, Krishnan, Manju, Slade, Peter, Storton, Sharon, Williams, Marie, Davies, Caroline, Connor, Lynda, Gainard, Glyn, Murphy, Carl, Barber, Mark, Esson, Derek, Choulerton, James, Shaw, Louise, Lucas, Suzanne, Hierons, Sarah, Avis, Joanne, Stone, Andrew, Gbadamoshi, Lukuman, Costa, Telma, Pearce, Lauren, Harkness, Kirsty, Richards, Emma, Howe, Jo, Kamara, Christine, Lindert, Ralf, Ali, Ali, Rehan, Jahanzeb, Chapman, Sarah, Edwards, Maria, Bathula, Raj, Cohen, David, Devine, Joseph, Mpelembue, Mushiya, Yesupatham, Priya, Chhabra, Swati, Adewetan, Gbadebo, Ballantine, Robert, Brooks, Daniel, Smith, Gemma, Rogers, Gill, Marsden, Stuart, Clark, Sarah, Wilkinson, Ami, Brown, Ellen, Stephenson, Lynsey, Nyo, Khin, Abraham, Annie, Pai, Yogish, Shim, Gek, Baliga, Vidya, Nair, Anand, Robinson, Matthew, Hawksworth, Catherine, Greig, Jill, Alam, Irfan, Nortcliffe, Tonicha, Ramiz, Ridha, Shaw, Ryan, Lee, Stephanie, Marsden, Tracy, Perez, Jane, Birleson, Emily, Yadava, Rajendra, Sangombe, Mirriam, Stafford, Sam, Hughes, Tom, Knibbs, Lucy, Morse, Bethan, Schwarz, Stefan, Jelley, Benjamin, White, Susan, Richard, Bella, Lawson, Heidi, Moseley, Sally, Tayler, Michelle, Edwards, Mandy, Triscott, Claire, Wallace, Rebecca, Hall, Angela, Dell, Amanda, Rashed, Khalid, Board, Sarah, Buckley, Clare, Tanate, Alfonso, Pitt-Kerby, Tressy, Beesley, Kate, Perry, Jess, Hellyer, Christine, Guyler, Paul, Menon, Nisha, Tysoe, Sharon, Prabakaran, Raji, Cooper, Martin, Rajapakse, Anoja, Wynter, Inez, Smith, Susan, Weir, Nic, Boxall, Cherish, Yates, Hannah, Smith, Simon, Crawford, Pamela, Marigold, James, Smith, Fiona, Harvey, Jake, Evans, Sue, Baldwin, Laura, Hammond, Sarah, Mudd, Paul, Bowring, Angela, Keenan, Samantha, Thorpe, Kevin, Haque, Mohammad, Taaffe, Joanne, Temple, Natalie, Peachey, Tracey, Wells, Kim, Haines, Fiona, Butterworth-Cowin, Nicola, Horne, Zoey, Licenik, Radim, Boughton, Hayley, England, Timothy, Hedstrom, Amanda, Menezes, Brian, Davies, Ruth, Johnson, Venetia, Whittingham-Jones, Simon, Werring, David, Obarey, Sabaa, Watchurst, Caroline, Ashton, Amy, Feerick, Shez, Francia, Nina, Banaras, Azra, Epstein, Daniel, Marinescu, Marilena, Williams, Annick, Robinson, Anna, Humphries, Fiona, Anwar, Ijaz, Annamalai, Arunkumar, Crawford, Susan, Collins, Vicky, Shepherd, Lorna, Siddle, Elaine, Penge, Justin, Qureshi, Sam, Krishnamurthy, Vinodh, Papavasileiou, Vasileios, Waugh, Dean, Veraque, Emelda, Douglas, Nathan, Khan, Numan, Ramachandran, Sankaranarayanan, Sommerville, Peter, Rudd, Anthony, Kullane, Sagal, Bhalla, Ajay, Birns, Jonathan, Ahmed, Rowshanara, Gibbons, Meegan, Klamerus, Eva, Cendreda, Benjie, Muir, Keith, Day, Nicola, Welch, Angela, Smith, Wilma, Elliot, Jennifer, Eltawil, Salwa, Mahmood, Ammad, Hatherley, Kim, Mitchell, Shirley, Bains, Harjit, Quinn, Lauren, Teal, Rachel, Gbinigie, Ivie, Harston, George, Mathieson, Phil, Ford, Gary, Schulz, Ursula, Kennedy, James, Nagaratnam, Kirubananthan, Bangalore, Kiran, Bhupathiraju, Neelima, Wharton, Chris, Fotherby, Ken, Nasar, Ahmad, Stevens, Angie, Willberry, Angela, Evans, Rachel, Rai, Baljinder, Blake, Chloe, Thavanesan, Kamy, Hann, Gail, Changuion, Tanith, Nix, Sara, Whiting, Amanda, Dharmasiri, Michelle, Mallon, Louise, Keltos, Marketa, Smyth, Nigel, Eglinton, Charlotte, Duffy, John, Tone, Ela, Sykes, Lucy, Porter, Emily, Fitton, Carolyn, Kirkineziadis, Nikolaos, Cluckie, Gillian, Kennedy, Kate, Trippier, Sarah, Williams, Rebecca, Hayter, Elizabeth, Rackie, James, Patel, Bhavini, Rita, Ghatala, Blight, Adrian, Jones, Val, Zhang, Liqun, Choy, Lillian, Pereira, Anthony, Clarke, Brian, Al-Hussayni, Samer, Dixon, Lynn, Young, Andrew, Bergin, Adrian, Broughton, David, Raghunathan, Senthil, Jackson, Benjamin, Appleton, Jason, Wilkes, Gwendoline, Buck, Amanda, Richardson, Carla, Clarke, Judith, Fleming, Lucy, Squires, Gemma, Law, Zhe, Hutchinson, Camille, Cvoro, Vera, Couser, Mandy, McGregor, Amanda, McAuley, Sean, Pound, Susan, Cochrane, Patricia, Holmes, Clare, Murphy, Peter, Devitt, Nicola, Osborn, Mairead, Steele, Amy, Guthrie, Lucy Belle, Smith, Elizabeth, Hewitt, Jonathan, Chaston, Natalie, Myint, Min, Smith, Andrew, Fairlie, Louise, Davis, Michelle, Atkinson, Beth, Woodward, Stephen, Hogg, Valerie, Fawcett, Michelle, Finlay, Louise, Dixit, Anand, Cameron, Eleanor, Keegan, Breffni, Kelly, Jim, Concannon, Dónal, Dutta, Dipankar, Ward, Deborah, Glass, Jon, O'Connell, Susan, Ngeh, Joseph, O'Kelly, Alison, Williams, Emma, Ragab, Suzanne, Jenkinson, Damian, Dube, Judith, Gleave, Laura, Leggett, Jacqui, Kissoon, Nisha, Southern, Louise, Naghotra, Utpal, Bokhari, Maria, McClelland, Beverley, Adie, Katja, Mate, Abhijit, Harrington, Frances, James, Ali, Swanson, Elizabeth, Chant, Terri, Naccache, Miriam, Coutts, Abbie, Courtauld, Gillian, Whurr, Sarah, Webber, Sue, Shead, Emily, Luder, Robert, Bhargava, Maneesh, Murali, Elodie, Cuenoud, Larissa, Pasco, Kath, Speirs, O, Chapman, Lianne, Inskip, Linda, Kavanagh, Lisa, Srinivasan, Meena, Motherwell, Nichola, Mukherjee, Indranil, Tonks, Louise, Donaldson, Denise, Button, Heather, Wilcox, Rebecca, Hurford, Fran, Logan, Rachel, Taylor, Andy, Arden, Tracie, Carpenter, Michael, Datta, Prabal, Zahoor, Tajammal, Jackson, Linda, Needle, Ann, Stanners, Andrew, Ghouri, Imran, Exley, Donna, Akhtar, Salman, Brooke, Hollie, Beadle, Shannen, O'Brien, Eoin, Francis, Jobbin, McGee, Joanne, Amis, Elaine, Mitchell, Jennifer, Finlay, Sarah, Sinha, Devesh, Manoczki, Csilla, King, Sam, Tarka, James, Choudhary, Sumita, Premaruban, Jegamalini, Sutton, Dorothy, Kumar, Pradeep, Culmsee, Charlotte, Winckley, Caroline, Davies, Holly, Thatcher, Hilary, Vasileiadis, Evangelos, Aweid, Basaam, Holden, Melinda, Mason, Cathy, Hlaing, Thant, Madzamba, Gladys, Ingram, Tanya, Linforth, Michelle, Cullen, Claire, Thomas, Nibu, France, John, Saulat, Afaq, Bhaskaran, Biju, Fitzell, Pauline, Horan, Kathleen, Manyoni, Catherine, Garfield-Smith, Josie, Griffin, Hannah, Atkins, Stacey, Redome, Joan, Muddegowda, Girish, Maguire, Holly, Barry, Adrian, Abano, Nenette, Varquez, Resti, Hiden, Joanne, Lyjko, Susan, Remegoso, Alda, Finney, Kay, Butler, Adrian, Strecker, Martin, MaCleod, Mary Joan, Irvine, Janice, Nelson, Sandra, Guzmangutierrez, German, Furnace, Jacqueline, Taylor, Vicky, Ramadan, Hawraman, Storton, Kim, Hassan, Sohail, Abdus Sami, Eman, Bellfield, Ruth, Stewart, Kelvin, Quinn, Outi, Patterson, Chris, Emsley, Hedley, Gregary, Bindu, Ahmed, Shakeel, Patel, Shakeelah, Raj, Sonia, Sultan, Sulaiman, Wright, Fiona, Langhorne, Peter, Graham, Ruth, Quinn, Terry, and McArthur, Kate

Published
2021
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28. Access to sexual violence services for underserved communities in Southern Alberta

Author

Williams, Carol, Bastien, Aleah, University of Lethbridge. Faculty of Arts and Science, Williams, Carol, Bastien, Aleah, and University of Lethbridge. Faculty of Arts and Science

Abstract

This thesis examines accessibility to sexual violence services for 2SLGBTQIA+ and faith affirmed communities in Southern Alberta. My central research question was: what is the current state of accessibility to sexual violence services for underserved communities in Lethbridge and surrounding rural communities? The limited scope of inclusion within the scholarship I reviewed meant I was unable to explore a wide range of diverse experiences and how different facets of identity may contribute to increased vulnerability of experiencing sexual violence. Using a combination of praxis and embodiment as methodologies, I conducted eight individual interviews with participants who self- identified as either 2SLGBTQIA+ and/or faith affirmed. Following the completion of each interview, as well as the transcribing process, I deployed intersectional and queer theoretical frameworks to find common themes throughout each of my conversations with participants. I found common themes relating to the normalization of sexual violence, through sites of indoctrination and structures of inequity. I also found a common theme surrounding access and affirming sexual violence services in Southern Alberta. To demonstrate the commonalities identified, experiences and/or examples are pulled directly from my conversations with participants. These experiences and examples are then used to detail pathways forward.

Published
2024

31. Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics.

Author

DeSpenza Jr, Tyrone, Singh, Amrita, Allington, Garrett, Shujuan Zhao, Junghoon Lee, Kiziltug, Emre, Prina, Mackenzi L., Desmet, Nicole, Dang, Huy Q., Fields, Jennifer, Nelson-Williams, Carol, Junhui Zhang, Mekbib, Kedous Y., Dennis, Evan, Mehta, Neel H., Duy, Phan Q., Shimelis, Hermela, Walsh, Lauren K., Marlier, Arnaud, and Deniz, Engin

Subjects
AUTISM spectrum disorders, CEREBRAL ventricles, GENETIC variation, HYDROCEPHALUS, MICROTUBULES, CHILDREN with autism spectrum disorders
Abstract

Enlargement of the cerebrospinal fluid (CSF)-filled brain ventricles (cerebral ventriculomegaly), the cardinal feature of congenital hydrocephalus (CH), is increasingly recognized among patients with autism spectrum disorders (ASD). KATNAL2, a member of Katanin family microtubule-severing ATPases, is a known ASD risk gene, but its roles in human brain development remain unclear. Here, we show that nonsense truncation of Katnal2 (Katnal2Δ17) in mice results in classic ciliopathy phenotypes, including impaired spermatogenesis and cerebral ventriculomegaly. In both humans and mice, KATNAL2 is highly expressed in ciliated radial glia of the fetal ventricular-subventricular zone as well as in their postnatal ependymal and neuronal progeny. The ventriculomegaly observed in Katnal2Δ17 mice is associated with disrupted primary cilia and ependymal planar cell polarity that results in impaired cilia-generated CSF flow. Further, prefrontal pyramidal neurons in ventriculomegalic Katnal2Δ17 mice exhibit decreased excitatory drive and reduced high-frequency firing. Consistent with these findings in mice, we identified rare, damaging heterozygous germline variants in KATNAL2 in five unrelated patients with neurosurgically treated CH and comorbid ASD or other neurodevelopmental disorders. Mice engineered with the orthologous ASD-associated KATNAL2 F244L missense variant recapitulated the ventriculomegaly found in human patients. Together, these data suggest KATNAL2 pathogenic variants alter intraventricular CSF homeostasis and parenchymal neuronal connectivity by disrupting microtubule dynamics in fetal radial glia and their postnatal ependymal and neuronal descendants. The results identify a molecular mechanism underlying the development of ventriculomegaly in a genetic subset of patients with ASD and may explain persistence of neurodevelopmental phenotypes in some patients with CH despite neurosurgical CSF shunting. [ABSTRACT FROM AUTHOR]

Published
2024
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32. Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia

Author

Dong, Weilai, Jin, Sheng Chih, Allocco, August, Zeng, Xue, Sheth, Amar H., Panchagnula, Shreyas, Castonguay, Annie, Lorenzo, Louis-Étienne, Islam, Barira, Brindle, Geneviève, Bachand, Karine, Hu, Jamie, Sularz, Agata, Gaillard, Jonathan, Choi, Jungmin, Dunbar, Ashley, Nelson-Williams, Carol, Kiziltug, Emre, Furey, Charuta Gavankar, Conine, Sierra, Duy, Phan Q., Kundishora, Adam J., Loring, Erin, Li, Boyang, Lu, Qiongshi, Zhou, Geyu, Liu, Wei, Li, Xinyue, Sierant, Michael C., Mane, Shrikant, Castaldi, Christopher, López-Giráldez, Francesc, Knight, James R., Sekula, Raymond F., Jr., Simard, J. Marc, Eskandar, Emad N., Gottschalk, Christopher, Moliterno, Jennifer, Günel, Murat, Gerrard, Jason L., Dib-Hajj, Sulayman, Waxman, Stephen G., Barker, Fred G., II, Alper, Seth L., Chahine, Mohamed, Haider, Shozeb, De Koninck, Yves, Lifton, Richard P., and Kahle, Kristopher T.

Published
2020
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33. De novo Variants Disrupt an LDB1-Regulated Transcriptional Network in Congenital Ventriculomegaly

Author

Allington, Garrett, primary, Mehta, Neel, additional, Dennis, Evan, additional, Mekbib, Kedous Y., additional, Reeves, Benjamin, additional, Kiziltug, Emre, additional, Chen, Shuang, additional, Zhao, Shujuan, additional, Walsh, Lauren, additional, Shimelis, Hermela, additional, Fan, Baojian, additional, Nelson-Williams, Carol, additional, Moreno De Luca, Andres, additional, Haider, Shozeb, additional, Lifton, Richard P., additional, Alper, Seth, additional, McGee, Stephen, additional, Jin, Sheng Chih, additional, and Kahle, Kristopher T., additional

Published
2024
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36. Landlabs: An Integrated Approach to Creating Agricultural Enterprises that Meet the Triple Bottom Line

Author

Jordan, Nicholas, Schulte, Lisa A., Williams, Carol, Mulla, David, Pitt, David, Slotterback, Carissa Schively, Jackson, Randall, Landis, Douglas, Dale, Bruce, Becker, Dennis, Rickenbach, Mark, Helmers, Matt, and Bringi, Bobby

Abstract

Global demand is increasing for food, feed, and fiber; for additional agricultural outputs, such as biofuels; and for ecosystem services, such as clean water and outdoor recreation. In response, new agricultural enterprises are needed that produce more outputs from existing lands while meeting the "triple bottom line" of high performance in economic, environmental, and social terms. Establishing such enterprises requires coordination and development within three critical domains: landscape configurations (i.e., types and arrangements of land uses), supply/value chains (i.e., processing and utilization), and policy and governance. In this essay, we describe our efforts, as land-grant university scientists, to support coordinated innovation and enterprise development in integrated place-based institutions, which we term landlabs. We describe our experiences in three prototyping efforts and outline key features of landlabs that are emerging from these efforts. Land-grant universities have a central and crucial role to play in organizing and operating landlabs.

Published
2013

37. Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

Author

Jin, Sheng Chih, Dong, Weilai, Kundishora, Adam J., Panchagnula, Shreyas, Moreno-De-Luca, Andres, Furey, Charuta G., Allocco, August A., Walker, Rebecca L., Nelson-Williams, Carol, Smith, Hannah, Dunbar, Ashley, Conine, Sierra, Lu, Qiongshi, Zeng, Xue, Sierant, Michael C., Knight, James R., Sullivan, William, Duy, Phan Q., DeSpenza, Tyrone, Reeves, Benjamin C., Karimy, Jason K., Marlier, Arnaud, Castaldi, Christopher, Tikhonova, Irina R., Li, Boyang, Peña, Helena Perez, Broach, James R., Kabachelor, Edith M., Ssenyonga, Peter, Hehnly, Christine, Ge, Li, Keren, Boris, Timberlake, Andrew T., Goto, June, Mangano, Francesco T., Johnston, James M., Butler, William E., Warf, Benjamin C., Smith, Edward R., Schiff, Steven J., Limbrick, Jr, David D., Heuer, Gregory, Jackson, Eric M., Iskandar, Bermans J., Mane, Shrikant, Haider, Shozeb, Guclu, Bulent, Bayri, Yasar, Sahin, Yener, Duncan, Charles C., Apuzzo, Michael L. J., DiLuna, Michael L., Hoffman, Ellen J., Sestan, Nenad, Ment, Laura R., Alper, Seth L., Bilguvar, Kaya, Geschwind, Daniel H., Günel, Murat, Lifton, Richard P., and Kahle, Kristopher T.

Published
2020
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39. Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti

Author

Choate, Keith A, Lu, Yin, Zhou, Jing, Elias, Peter M, Zaidi, Samir, Paller, Amy S, Farhi, Anita, Nelson-Williams, Carol, Crumrine, Debra, Milstone, Leonard M, and Lifton, Richard P

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Pediatric, Skin, Adult, Age of Onset, Amino Acid Sequence, Cell Line, Tumor, Cell Nucleus, Child, Child, Preschool, Chromosomes, Human, Pair 12, Cytoskeleton, Frameshift Mutation, Humans, Ichthyosis, Intermediate Filaments, Keratin-1, Keratinocytes, Loss of Heterozygosity, Male, Molecular Sequence Data, Mosaicism, Phenotype, Polymorphism, Single Nucleotide, Protein Transport, Transfection, Medical and Health Sciences, Immunology, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Widespread reversion of genetic disease is rare; however, such events are particularly evident in some skin disorders in which normal clones develop on a background of affected skin. We previously demonstrated that mutations in keratin 10 (KRT10) cause ichthyosis with confetti (IWC), a severe dominant disorder that is characterized by progressive development of hundreds of normal skin spots via revertant mosaicism. Here, we report on a clinical and histological IWC subtype in which affected subjects have red, scaly skin at birth, experience worsening palmoplantar keratoderma in childhood, and develop hundreds of normal skin spots, beginning at around 20 years of age, that increase in size and number over time. We identified a causal de novo mutation in keratin 1 (KRT1). Similar to IWC-causing KRT10 mutations, this mutation in KRT1 resulted in a C-terminal frameshift, replacing 22 C-terminal amino acids with an alternate 30-residue peptide. Mutant KRT1 caused partial collapse of the cytoplasmic intermediate filament network and mislocalized to the nucleus. As with KRT10 mutations causing IWC, reversion of KRT1 mutations occurred via mitotic recombination. Because reversion is not observed with other disease-causing keratin mutations, the results of this study implicate KRT1 and KRT10 C-terminal frameshift mutations in the high frequency of revertant mosaicism in IWC.

Published
2015

40. Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas.

Author

Cromer, M, Choi, Murim, Nelson-Williams, Carol, Fonseca, Annabelle, Kunstman, John, Korah, Reju, Overton, John, Mane, Shrikant, Kenney, Barton, Malchoff, Carl, Stalberg, Peter, Akerström, Göran, Westin, Gunnar, Hellman, Per, Carling, Tobias, Björklund, Peyman, and Lifton, Richard

Subjects
YY1, adenylyl cyclase, cAMP, exome sequencing, insulinoma, Adenylyl Cyclases, Adolescent, Adult, Aged, Aged, 80 and over, Base Sequence, Binding Sites, Blood Glucose, Calcium, Calcium Channels, Cohort Studies, Cyclic AMP, Female, Gene Expression Regulation, Humans, Insulin, Insulin-Secreting Cells, Insulinoma, Male, Middle Aged, Molecular Sequence Data, Mutation, Missense, Pancreatic Neoplasms, Protein Binding, YY1 Transcription Factor
Abstract

Insulinomas are pancreatic islet tumors that inappropriately secrete insulin, producing hypoglycemia. Exome and targeted sequencing revealed that 14 of 43 insulinomas harbored the identical somatic mutation in the DNA-binding zinc finger of the transcription factor Yin Yang 1 (YY1). Chromatin immunoprecipitation sequencing (ChIP-Seq) showed that this T372R substitution changes the DNA motif bound by YY1. Global analysis of gene expression demonstrated distinct clustering of tumors with and without YY1(T372R) mutations. Genes showing large increases in expression in YY1(T372R) tumors included ADCY1 (an adenylyl cyclase) and CACNA2D2 (a Ca(2+) channel); both are expressed at very low levels in normal β-cells and show mutation-specific YY1 binding sites. Both gene products are involved in key pathways regulating insulin secretion. Expression of these genes in rat INS-1 cells demonstrated markedly increased insulin secretion. These findings indicate that YY1(T372R) mutations are neomorphic, resulting in constitutive activation of cAMP and Ca(2+) signaling pathways involved in insulin secretion.

Published
2015

41. Effects of antiplatelet therapy on stroke risk by brain imaging features of intracerebral haemorrhage and cerebral small vessel diseases: subgroup analyses of the RESTART randomised, open-label trial

Author

Baigent, Colin, Lasserson, Daniel, Sullivan, Frank, Carrie, Johanna, Rojas, Javier, Amoils, Shannon, Bamford, John, Armitage, Jane, Rinkel, Gabriel, Lowe, Gordon, Emberson, Jonathan, Innes, Karen, Dinsmore, Lynn, Drever, Jonathan, Williams, Carol, Perry, David, McGill, Connor, Buchanan, David, Walker, Allan, Hutchison, Aidan, Matthews, Christopher, Fraser, Ruth, McGrath, Aileen, Deary, Ann, Anderson, Rosemary, Walker, Pauli, Hansen, Christian, Parker, Richard, Rodriguez, Aryelly, Macleod, Malcolm, Gattringer, Thomas, Palmer, Jeb, Sakka, Eleni, Adil-Smith, Jennifer, Minks, David, Mitra, Dipayan, Bhatnagar, Priya, du Plessis, Johannes, Joshi, Yogish, Lerpiniere, Christine, O'Brien, Richard, Burgess, Seona, Mead, Gillian, Paulton, Ruth, Doubal, Fergus, McCormick, Katrina, Hunter, Neil, Taylor, Pat, Parakramawansha, Ruwan, Perry, Jack, Blair, Gordon, MacRaild, Allan, Parry-Jones, Adrian, Johnes, Mary, Lee, Stephanie, Shaw, Kelly Marie, Burger, Ilse, Punter, Martin, Ingham, Andrea, Perez, Jane, Naing, Zin, Morell, Jordi, Marsden, Tracy, Hall, Andrea, Marshall, Sally, Harrison, Louise, Jarapa, Rowilson, Wood, Edith, O'Loughlin, Victoria, Cohen, David, Davies, Silvie, Njoku, Kelechi, Mpelembue, Mushiya, Burgess, Laura, Licenik, Radim, Ngwako, Mmua, Nisar, Nabeela, Niranchanan, Rangah, Roganova, Tatjana, Bathula, Rajaram, Devine, Joseph, David, Anette, Oshodi, Anne, Guo, Fenglin, Owoyele, Emmanuelle, Sukdeo, Varthi, Ballantine, Robert, Abbdul-saheb, Mudhar, Chamberlain, Angela, Chandrakumar, Aberami, Poku, Philip, Harkness, Kirsty, Blank, Catrin, Richards, Emma, Ali, Ali, Kibutu, Faith, Balitska, Olesia, Birchall, Kathryn, Bayliss, Pauline, Doyle, Clare, Stocks, Kathy, Majis, Arshad, Howe, Jo, Kamara, Christine, Barron, Luke, Maatouk, Ahmad, Lindert, Ralf, Dakin, Katy, Redgrave, Jessica, Bhaskaran, Biju, Salih, Isam, Kelly, Debs, Szabo, Susan, Tomlin, Dawn, Bearne, Helen, Buxton, Jean, Fitzell, Pauline, Ayres, Georgina, Saulat, Afaq, Horan, Kathleen, Garfield-Smith, Joanne, Bhakri, Harbens, Guyler, Paul, Sinha, Devesh, Loganathan, Thayalini, Siddiqui, Amber, Siddiqui, Anwer, Coward, Lucy, Kunhunny, Swapna, Tysoe, Sharon, Orath Prabakaran, Rajalakshmi, Kelavkar, Shyam, Rashmi, Sindhu, Ngo, David, Ng, Kheng Xiong, Menon, Nisha, Shah, Sweni, Barber, Mark, Esson, Derek, Brodie, Fiona, Anjum, Talat, Wani, Mushtaq, Krishnan, Manju, Quinn, Leanne, Spencer, Jayne, Jones, Terry, Thompson-Jones, Helen, Dacey, Lynne, Chenna, Srikanth, Storton, Sharon, Thomas, Sarah, Beaty, Teresa, Treadwell, Shelley, Davies, Caroline, Tucker, Susan, Connor, Lynda, Slade, Peter, Gainard, Glyn, Muddegowda, Girish, Sanyal, Ranjan, Remegoso, Alda, Abano, Nenette, Causley, Chelsea, Carpio, Racquel, Stevens, Stephanie, Butler, Adrian, Varquez, Resti, Denic, Hayley, Alipio, Francis, Moores, Andrew, Barry, Adrian, Maguire, Holly, Grocott, Jeanette, Finney, Kay, Lyjko, Sue, Roffe, Christine, Hiden, Joanne, Ferdinand, Phillip, Cvoro, Vera, Ullah, Khalil, Chapman, Nicola, Couser, Mandy, Pound, Susan, Mcauley, Sean, Raghunathan, Senthil, Shelton, Faye, Hedstrom, Amanda, Godfrey, Margi, Havard, Diane, Buck, Amanda, Krishnan, Kailash, Gilzeane, Nicola, Roffe, Jack, Clarke, Judith, Whittamore, Katherine, Sheikh, Saima, Sprigg, Nikola, Keshvara, Rekha, Jordan, Carla, Jackson, Benjamin, Wilkes, Gwendoline, Appleton, Jason, Law, Zhe, Matias, Oliver, Vasileiadis, Evangelos, Mason, Cathy, Parry, Anthea, Landers, Geraldine, Holden, Melinda, Aweid, Basaam, Rashed, Khalid, Balian, Linda, Vickers, Carinna, Keeling, Elizabeth, Board, Sarah, Allison, Joanna, Buckley, Clare, Williams-Yesson, Barbara, Board, Joanne, Pitt-Kerby, Tressy, Tanate, Alfonso, Wood, Diane, Kini, Manohar, Chadha, Dinesh, Walstow, Deborah, Fong, Rosanna, Luder, Robert, Adesina, Tolu, Gallagher, Jill, Bridger, Hayley, Murali, Elodie, Bhargava, Maneesh, van Someren, Chloe, Harrington, Frances, Mate, Abhijit, James, Ali, Courtauld, Gillian, Schofield, Christine, Adie, Katja, Lucas, Linda, Bond, Kirsty, Maund, Bev, Ellis, Sam, Mudd, Paul, James, Martin, Keenan, Samantha, Bowring, Angela, Cageao, Julie, Kingwell, Hayley, Roughan, Caroline, Hemsley, Anthony, Sword, Jane, Strain, David, Miller, Keniesha, Goff, Anita, Gupwell, Karin, Thorpe, Kevin, Emsley, Hedley, Punekar, Shuja, McLoughlin, Alison, Sultan, Sulaiman, Gregory, Bindu, Raj, Sonia, Doyle, Donna, Muir, Keith, Smith, Wilma, Welch, Angela, Moreton, Fiona, Cheripelli, Bharath Kumar, El Tawil, Salwa, Kalladka, Dheeraj, Huang, Xuya, Day, Nicola, Ramachandran, Sankaranarayanan, Crosbie, Caroline, Elliot, Jennifer, Rudd, Tony, Marks, Katherine, Bhalla, Ajay, Birns, Jonathan, Kullane, Sagal, Weir, Nic, Allen, Christopher, Pressly, Vanessa, Crawford, Pam, Battersby-Wood, Emma, Blades, Alex, Egerton, Shuna, Walters, Ashleigh, Evans, Sue, Marigold, James Richard, Smith, Fiona, Howard, Gabriella, Gartrell, Imogen, Smith, Simon, Creeden, Robyn, Cox, Chloe, Boxall, Cherish, Hewitt, Jonathan, Nott, Claire, Sarah, Procter, Whiteman, Jessica, Buckle, Steve, Wallace, Rebecca, Mardania, Rina, Gray, Jane, Triscott, Claire, Nair, Anand, Greig, Jill, Rana, Pratap, Robinson, Matthew, Alam, Mohammad Irfan, Werring, David, Wilson, Duncan, Watchurst, Caroline, Brezitski, Maria, Crook, Luci, Jones, Ifan, Banaras, Azra, Patel, Krishna, Erande, Renuka, Hogan, Caroline, Hostettler, Isabel, Ashton, Amy, Feerick, Shez, Francia, Nina, Oji, Nnebuife, Elliott, Emma, Al-Mayhani, Talal, Dennis, Martin, Sudlow, Cathie, Whiteley, William, Al-Shahi Salman, Rustam, Dutta, Dipankar, Brown, Pauline, Ward, Deborah, Davis, Fiona, Turfrey, Jennifer, Hughes, Chloe, Collins, Kayleigh, Bakawala, Rehana, O'Connell, Susan, Glass, Jon, Broughton, David, Tryambake, Dinesh, Dixon, Lynn, Chapman, Kath, Young, Andrew, Bergin, Adrian, Sigsworth, Andrew, Manoj, Aravind, Fletcher, Glyn, Lopez, Paula, Cox, Penelope, Wilkinson, Mark, Fitzsimmons, Paul, Sharma, Nikhil, Choulerton, James, Button, Denise, Dow, Lindsey, Gbadamoshi, Lukuman, Avis, Joanne, Madigan, Barbara, McCann, Stephanie, Shaw, Louise, Howcroft, Deborah, Lucas, Suzanne, Stone, Andrew, Cluckie, Gillian, Lovelock, Caroline, Clarke, Brian, Chopra, Neha, Clarke, Natasha, Patel, Bhavini, Kennedy, Kate, Williams, Rebecca, Blight, Adrian, O'Reilly, Joanna, Orefo, Chukwuka, Dayal, Nilofer, Ghatala, Rita, Adedoyin, Temi, Watson, Fran, Trippier, Sarah, Choy, Lillian, Moynihan, Barry, Khan, Usman, Jones, Val, Jeyaraj, Naomi, Kerin, Lourda, Thavanesan, Kamy, Tiwari, Divya, Cox, Chantel, Ljubez, Anja, Tucker, Laura, Iqbal, Arshi, Bagnall, Caroline, Keltos, Marketa, Roberts, Josh, Jupp, Becky, Ovington, Catherine, Rogers, Emily, David, Owen, Bell, Jo, Longland, Barbara, Hann, Gail, Cooper, Martin, Nasar, Mohammad, Rajapakse, Anoja, Wynter, Inez, Anwar, Ijaz, Skinner, Helen, Nozedar, Tarn, McArdle, Damian, Kumar, Balakrishna, Crawford, Susan, Annamalai, Arunkumar, Ramshaw, Alex, Holmes, Clare, Caine, Sarah, Osborn, Mairead, Dodd, Emily, Murphy, Peter, Devitt, Nicola, Baker, Pauline, Steele, Amy, Guthrie, Lucy Belle, Clarke, Samantha, Hassan, Ahamad, Waugh, Dean, Veraque, Emelda, Makawa, Linetty, Kambafwile, Mary, Randall, Marc, Papavasileiou, Vasileios, Cullen, Claire, Peters, Jenny, Thant, Hlaing, Ingram, Tanya, Zoe, Mellor, Durairaj, Ramesh, Harrison, Melanie, Stevenson, Sarah, Shackcloth, Daniela, Ewing, Jordan, Sutton, Victoria, McCarron, Mark, McKee, Jacqueline, Doherty, Mandy, McVerry, Ferghal, Blair, Caroline, MacLeod, Mary, Irvine, Janice, Gow, Heather, Furnace, Jacqueline, Joyson, Anu, Jagpal, Baljit, Ross, Sarah, Klaasen, Katrina, Nelson, Sandra, Clarke, Rebecca, Crouch, Nichola, MacLennan, Beverly, Taylor, Vicky, Epstein, Daniel, Shukla, Avani, Krishnamurthy, Vinodh, Nicholas, Paul, Qureshi, Sammie, Webber, Adam, Penge, Justin, Ramadan, Hawraman, Maguire, Stuart, Patterson, Chris, Bellfield, Ruth, Hairsine, Brigid, Stewart, Kelvin, Hooley, Michaela, Quinn, Outi, Richard, Bella, Moseley, Sally, Edwards, Mandy, Lawson, Heidi, Tayler, Michelle, Pai, Yogish, Dhakal, Mahesh, Esisi, Bernard, Dima, Sofia, Smith, Gemma Marie, Garside, Mark, Naeem, Muhammad, Baliga, Vidya, Rogers, Gill, Brown, Ellen, Bruce, David, Hayman, Rachel, Clayton, Susan, Gamble, Ed, Grue, Rebecca, Charles, Bethan, Hague, Adam, Blane, Sujata, Lambert, Caroline, Chaudhry, Afnan, Harrison, Thomas, Saastamoinen, Kari, Hove, Dionne, Howaniec, Laura, Grimwood, Gemma, Redjep, Ozlem, Humphries, Fiona, Argandona, Lucia, Cuenoud, Larissa, Erumere, Esther, Amlani, Sageet, Auld, Grace, Salek-Haddadi, Afraim, Schulz, Ursula, Kennedy, James, Ford, Gary, Mathieson, Philip, Reckless, Ian, Teal, Rachel, Lenti, Giulia, Harston, George, O'Brien, Eoin, Mcgee, Joanne, Mitchell, Jennifer, Amis, Elaine, Handley, Dominic, Kelly, Siobhan, Zachariah, George, Francis, Jobbin, Crisp, Sarah, Sesay, Juliana, Finlay, Sarah, Hayhoe, Helen, Hannon, Niamh, Hughes, Tom, Morse, Bethan, De Berker, Henry, Tallantyre, Emma, Osman, Ahmed, White, Susan, Schwarz, Stefan, Jelley, Benjamin, Yadava, Rajendra, Azhar, Khalid, Reddan, Julie, Sangombe, Mirriam, Stafford, Samantha, Fotherby, Ken, Morgan, Debbie, Baig, Farrukh, Jennings-Preece, Karla, Butler, Donna, Ahmad, Nasar, Willberry, Angela, Stevens, Angela, Rai, Baljinder, Siddegowda, Prasad, Howard, Peter, Hyatt, Lisa, Dobson, Tracey, Jarrett, David, Ponnambath, Suheil, Tandy, Jane, Harrington-Davies, Yasmin, Butler, Rebecca, James, Claire, Valentine, Stacey, Suttling, Anne, Langhorne, Peter, Kerr, Gillian, Wright, Fiona, Graham, Ruth, McAlpine, Christine, Iqbal, Mohammad Shahzad, Humphreys, Louise, Pasco, Kath, Balazikova, Olga, Nasim, Ashraf, Peixoto, Cassilda, Gallagher, Louise, Shahmehri, Shahrzad, Ghosh, Sandip, Barrie, Elizabeth, Gilmour, Danielle, Henry, Margo, Webb, Tom, Cowie, Linda, Rudenko, Hannah, McDonald, Shanni, Schumacher, Natasha, Walker, Susannah, Cosier, Tracey, Verrion, Anna, Beranova, Eva, Thomson, Audrey, Venter, Marius, Kar, Arindam, Mashate, Sheila, Harvey, Kirsten, Gardener, Léjeune, Nguyen, Vinh, Halse, Omid, Geraghty, Olivia, Hazel, Beth, Wilding, Peter, Tilley, Victoria, Cassidy, Tim, McClelland, Beverley, Bokhari, Maria, England, Timothy, Maddula, Mohana, Donnelly, Richard, Findlay, Paul, Macaden, Ashish, Shread, Ian, Barr, Charlotte, Mohd Nor, Azlisham, Brown, Claire, Persad, Nicola, Eglinton, Charlotte, Weinling, Marie, Hyams, Benjamin, Shah, Alex, Baker, John, Byrne, Anthony, McGhee, Caroline, Smart, Amanda, Copeland, Claire, Carpenter, Michael, Walker, Marion, Davey, Richard, Needle, Ann, Fathima, Razik, Bateman, Gavin, Datta, Prabal, Stanners, Andrew, Jackson, Linda, Ball, Julie, Davis, Michelle, Atkinson, Natalie, Fawcett, Michelle, Thompson, Teresa, Guy, Helen, Hogg, Valerie, Hays, Carole, Woodward, Stephen, Haque, Mohammad, Hakim, Eluzai, Symonds, Stuart, Maanoosi, Mehran, Herman, Jane, Black, Toby, Miriam, Skelton, Clarke, Caroline, Anthony, Alpha, Tribbeck, Michele, Cronin, Julie, Mead, Denise, Fennelly, Ruth, McIlmoyle, James, Dickinson, Christina, Jeffs, Carol, Anwar, Sajjad, Howard, Joanne, Jones, Kirsty, Dhar, Saikat, Clay, Caroline, Siddiq, Muhammad, Ivatts, Simone, Baird, Yolanda, Sally, Moore, Amey, Isobel, Newton, Sophie, Clayton-Evans, Lisa, Chadbourn, Indra, Rayessa, Rayessa, Naylor, Charde, Rodgers, Alicia, Wilson, Lisa, Wilson, Sarah, Clarkson, Emma, Davies, Ruth, Owings, Paula, Sangster, Graeme, Gott, Valerie, Little, Victoria, Weir, Pauline, Cherian, Suja, Jose, Deepa, Moroney, Helen, Downham, Susan, Dodd, Angela, Vettimootal Johnson, Venetia, Codd, Laura, Robinson, Naomi, Ahmed, Ashraf, Albazzaz, Mo, Johnson, Sharon, Denniss, Carol, Cunningham, Mishell, Zahoor, Tajammal, Webster, Timothy, Leason, Sandra, Haider, Syed, Chatterjee, Kausic, Nallasivan, Arumugam, Perkins, Charlotte, Seagrave, Samantha, Jenkins, Colin, Price, Fiona, Hughes, Claire, Mercer, Lily, Hussain, Malik, Brown, Sarah, Harvey, Miriam, Homan, Jane, Khan, Mohammad, Whiting, Robert, Foote, Leanne, Hunt, Nicholas, Durman, Helen, Brotherton, Lucy, Foot, Jayne, Pawley, Corinne, Foster, Eliza, Whitcher, Alison, Metcalf, Kneale, Jagger, Jenny, McDonald, Susan, Waterfield, Kelly, Sutton, Patrick, Shinh, Naval, Anversha, Ajmal, Ravenhill, Garth, Greenwood, Richard, Saada, Janak, Wiltshire, Alison, Perfitt, Rebekah, Andole, Sreeman, Gadapa, Naveen, Dunne, Karen, Krommyda, Magdalini, Burssens, Evelyne, King, Sam, Plewa, Catherine, Smyth, Nigel, Wilson, Jenny, Giallombardo, Elio, Sykes, Lucy, Kumar, Pradeep, Barker, James, Huggett, Isabel, Dunn, Linda, Culmsee, Charlotte, Thomas, Philip, Myint, Min, Brew, Helen, Majmudar, Nikhil, OConnell, Janice, Bunea, George, Fox, Charlotte, Gulliver, Diane, Smith, Andrew, Mokoena, Betty, Sattar, Naweed, Krishnamurthy, Ramesh, Osborne, Emily, Wilson, David, Wroath, Belinda, Dynan, Kevin, Power, Michael, Thompson, Susan, Adell, Victoria, Orugun, Enoch, Poultney, Una, Glover, Rachel, Crowther, Hannah, Thornthwaite, Sarah, Wiggam, Ivan, Wallace, Aine, Kerr, Enda, Fulton, Ailsa, Hunter, Annemarie, Tauro, Suzanne, Cuddy, Sarah, Mangion, David, Hardwick, Anne, Markova, Skarlet, Lawrence, Tara, Constantin, Carmen, Fletcher, Jo, Thomas, Isobel, Pettitt, Kerry, Sekaran, Lakshmanan, Tate, Margaret, Bharaj, Kiranjit, Simon, Rohan, Justin, Frances, Sethuraman, Sakthivel, Phiri, Duke, Mohammed, Niaz, Chauhan, Meena, Elfandi, Khaled, Khan, Uzma, Eveson, David, Mistri, Amit, Manning, Lisa, Khan, Shagufta, Patel, Champa, Moqsith, Mohammed, Sattar, Saira, Lam, Man Yee, Musarrat, Kashif, Stephens, Claire, Kalathil, Latheef, Miller, Richard, Salehin, Maqsud, Gautam, Nikki, Bailey, Duncan, Amor, Kelly, Meir, Julie, Nicolson, Anne, Imam, Javed, Wood, Lisa, White, Julie, Sajid, Mahmud, Ghaly, George, Ball, Margaret, Gascoyne, Rachel, Proeschel, Harald, Sharpe, Simon, Horton, Sarah, Beaves, Emily, Jones, Stephanie, Yip, Brigitte, Bell, Murdina, MacLiver, Linda, MacInnes, Brian, Sims, Don, Hurley, Jennifer, Willmot, Mark, Sutton, Claire, Littleton, Edward, Maiden, Susan, Jones, Rachael, Cunningham, James, Green, Carole, Bates, Michelle, Shekhar, Raj, Gilham, Ellie, Ahmed, Iman, Crown, Rachel, Fuller, Tracy, Goorah, Neetish, Bell, Angela, Kelly, Christine, Singh, Arun, Walford, Jamie, Tomlinson, Benjamin, Patel, Farzana, Duberley, Stephen, Kane, Ingrid, Rajkumar, Chakravarthi, Gaylard, Jane, Breeds, Joanna, Gainsborough, Nicola, Pitt-Ford, Alexandra, Barbon, Emma, Latter, Laura, Thompson, Philip, Hervey, Simon, Krishnamoorthy, Shrivakumar, Vassallo, Joseph, Walter, Deborah, Cochrane, Helen, Srinivasan, Meena, Campbell, Robert, Donaldson, Denise, Motherwell, Nichola, Hurford, Frances, Mukherjee, Indranil, Kenton, Antony, Nyabadza, Sheila, Martin, Irene, Hunt, Benjamin, Hassan, Hardi, O'Toole, Sarah, Dallol, Bander, Putterill, Janet, Jha, Ratneshwari, Gallifent, Rachel, Kakar, Puneet, Pusalkar, Aparna, Chan, kelly, Dangri, Puneet, Beadle, Hannah, Cook, Angela, Crabtree, Karen, Subramonian, Santhosh, Owusu-Agyei, Peter, Temple, Natalie, Butterworth-Cowin, Nicola, Ragab, Suzanne, Knops, Kerstin, Jinks, Emma, Dickson, Christine, Gleave, Laura, Dube, Judith, Leggett, Jacqui, Garcia, Tatiana, Ispoglou, Sissy, Evans, Rachel, Ankolekar, Sandeep, Hayes, Anne, Ni, Hlaing, Rahman, Bithi, Milligan, Josette, Graham, Carol, Jose, Josin, Keegan, Breffni, Kelly, Jim, Dewar, Richard, White, James, Thomas, Kelly, Minks, David P, Rodrigues, Mark A, du Plessis, Johann C, Dennis, Martin S, Murray, Gordon D, Newby, David E, Sandercock, Peter A G, Stephen, Jacqueline, Sudlow, Cathie L M, Werring, David J, Whiteley, William N, Wardlaw, Joanna M, and White, Philip M

Published
2019
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42. PowerPoint Presentation Handouts and College Student Learning Outcomes

Author

Noppe, Illene C., Achterberg, Jeanie, Duquaine, Lori, Huebbe, Margaret, and Williams, Carol

Abstract

This investigation sought to determine if supplementing lectures using Microsoft PowerPoint slides with handouts of the slides enhanced test-taking performance in an undergraduate Human Development course. In the first study, one section of the course (N = 50) was given handouts for one exam and a final; the other (N = 50) received handouts only for the final. No significant differences in test performance occurred across sections. The second study, conducted the following semester for two sections of the same course, assessed whether the receipt of PowerPoint handouts was moderated by learning styles. Learning styles were not predictive of improved test performance as a function of receipt of handouts. These results question the efficacy of presentation software handouts for student learning outcomes.

Published
2007

43. A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.

Author

Singh, Amrita K, Allington, Garrett, Viviano, Stephen, McGee, Stephen, Kiziltug, Emre, Ma, Shaojie, Zhao, Shujuan, Mekbib, Kedous Y, Shohfi, John P, Duy, Phan Q, DeSpenza, Tyrone, Furey, Charuta G, Reeves, Benjamin C, Smith, Hannah, Sousa, André M M, Cherskov, Adriana, Allocco, August, Nelson-Williams, Carol, Haider, Shozeb, and Rizvi, Syed R A

Subjects
HYDROCEPHALUS, NEURAL stem cells, OPTICAL coherence tomography, AUTISM spectrum disorders, EPIGENETICS, GONADAL dysgenesis, CHROMATIN-remodeling complexes
Abstract

Hydrocephalus, characterized by cerebral ventriculomegaly, is the most common disorder requiring brain surgery in children. Recent studies have implicated SMARCC1 , a component of the BRG1-associated factor (BAF) chromatin remodelling complex, as a candidate congenital hydrocephalus gene. However, SMARCC1 variants have not been systematically examined in a large patient cohort or conclusively linked with a human syndrome. Moreover, congenital hydrocephalus-associated SMARCC1 variants have not been functionally validated or mechanistically studied in vivo. Here, we aimed to assess the prevalence of SMARCC1 variants in an expanded patient cohort, describe associated clinical and radiographic phenotypes, and assess the impact of Smarcc1 depletion in a novel Xenopus tropicalis model of congenital hydrocephalus. To do this, we performed a genetic association study using whole-exome sequencing from a cohort consisting of 2697 total ventriculomegalic trios, including patients with neurosurgically-treated congenital hydrocephalus, that total 8091 exomes collected over 7 years (2016–23). A comparison control cohort consisted of 1798 exomes from unaffected siblings of patients with autism spectrum disorder and their unaffected parents were sourced from the Simons Simplex Collection. Enrichment and impact on protein structure were assessed in identified variants. Effects on the human fetal brain transcriptome were examined with RNA-sequencing and Smarcc1 knockdowns were generated in Xenopus and studied using optical coherence tomography imaging, in situ hybridization and immunofluorescence. SMARCC1 surpassed genome-wide significance thresholds, yielding six rare, protein-altering de novo variants localized to highly conserved residues in key functional domains. Patients exhibited hydrocephalus with aqueductal stenosis; corpus callosum abnormalities, developmental delay, and cardiac defects were also common. Xenopus knockdowns recapitulated both aqueductal stenosis and cardiac defects and were rescued by wild-type but not patient-specific variant SMARCC1. Hydrocephalic SMARCC1-variant human fetal brain and Smarcc1-variant Xenopus brain exhibited a similarly altered expression of key genes linked to midgestational neurogenesis, including the transcription factors NEUROD2 and MAB21L2. These results suggest de novo variants in SMARCC1 cause a novel human BAFopathy we term 'SMARCC1-associated developmental dysgenesis syndrome', characterized by variable presence of cerebral ventriculomegaly, aqueductal stenosis, developmental delay and a variety of structural brain or cardiac defects. These data underscore the importance of SMARCC1 and the BAF chromatin remodelling complex for human brain morphogenesis and provide evidence for a 'neural stem cell' paradigm of congenital hydrocephalus pathogenesis. These results highlight utility of trio-based whole-exome sequencing for identifying pathogenic variants in sporadic congenital structural brain disorders and suggest whole-exome sequencing may be a valuable adjunct in clinical management of congenital hydrocephalus patients. [ABSTRACT FROM AUTHOR]

Published
2024
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44. A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus

Author

Singh, Amrita K, primary, Allington, Garrett, additional, Viviano, Stephen, additional, McGee, Stephen, additional, Kiziltug, Emre, additional, Ma, Shaojie, additional, Zhao, Shujuan, additional, Mekbib, Kedous Y, additional, Shohfi, John P, additional, Duy, Phan Q, additional, DeSpenza, Tyrone, additional, Furey, Charuta G, additional, Reeves, Benjamin C, additional, Smith, Hannah, additional, Sousa, André M M, additional, Cherskov, Adriana, additional, Allocco, August, additional, Nelson-Williams, Carol, additional, Haider, Shozeb, additional, Rizvi, Syed R A, additional, Alper, Seth L, additional, Sestan, Nenad, additional, Shimelis, Hermela, additional, Walsh, Lauren K, additional, Lifton, Richard P, additional, Moreno-De-Luca, Andres, additional, Jin, Sheng Chih, additional, Kruszka, Paul, additional, Deniz, Engin, additional, and Kahle, Kristopher T, additional

Published
2023
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47. List of Contributors

Author

Williams, Carol L., primary, Porter, Pam, additional, Dahiya, Anju, additional, Hubbard, William G., additional, Bosworth, Sidney C., additional, Pennington, Dennis, additional, Darby, Heather M., additional, Callahan, Christopher W., additional, Garza, Eric L., additional, Hanna, H. Mark, additional, Scott, M. Sanford, additional, Mosier, Nathan S., additional, Hedden, Robert G., additional, Jenkins, Robert G., additional, Ileleji, Klein E., additional, Martin, Chad, additional, Jones, Don, additional, Kirk, Dana M., additional, Charles Gould, M., additional, Funk, Kip, additional, Milford, Jana, additional, Simpkins, Travis, additional, Duarte, Natasha, additional, Lee Bradley, Athena, additional, Pruszko, Rudy, additional, McCarthy, Sean M., additional, Melman, Jonathan H., additional, Reffell, Omar K., additional, Gordon-Wylie, Scott W., additional, Laurens, Lieve M.L., additional, Mielenz, Jonathan R., additional, Pecha, M. Brennan, additional, Garcia-Perez, Manuel, additional, Altman, Richard, additional, Tyner, Wallace E., additional, Parsons, Bob, additional, Cota, Matthew, additional, Hay, F. John, additional, Ciolkosz, Daniel, additional, Gorton, Samuel M., additional, Tailer, Tom, additional, McGarvey, Ron, additional, Snow, Heather M., additional, Custeau, Chuck, additional, Bellavance, Ethan, additional, McCowen, Tracey, additional, Csapilla, Samantha, additional, Troester, Grant, additional, Riggen, Adam, additional, Brancato, Ariadne, additional, Perruccio, Deandra, additional, Hart, Olivia, additional, Gutberlet, Dan, additional, Freitas, Justin, additional, Lisle, Isabel, additional, Jackson, Matt, additional, Reagan, Annie, additional, Zohn, Brian, additional, Sheridan, Jess, additional, Aronow, Roz, additional, Van Horn, Ryan, additional, Moloznik, Alec, additional, Beall, Ian, additional, Cicak, Irma, additional, Heilenbach, Kate, additional, McGovern, Allison, additional, Meharg, Hannah, additional, Companion, Adam, additional, Militi, Mike, additional, Lindley, Amanda, additional, MacIntyre, Claire, additional, Beaudet, Eric, additional, Evarts, Miranda, additional, Barwin, Richard O., additional, Riggs, William R., additional, O’Shea, John C., additional, Joslin, Thomas G., additional, Lam, Vanessia B., additional, and Smith, Richard P., additional

Published
2020
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49. Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer

Author

Nissim, Sahar, Leshchiner, Ignaty, Mancias, Joseph D., Greenblatt, Matthew B., Maertens, Ophélia, Cassa, Christopher A., Rosenfeld, Jill A., Cox, Andrew G., Hedgepeth, John, Wucherpfennig, Julia I., Kim, Andrew J., Henderson, Jake E., Gonyo, Patrick, Brandt, Anthony, Lorimer, Ellen, Unger, Bethany, Prokop, Jeremy W., Heidel, Jerry R., Wang, Xiao-Xu, Ukaegbu, Chinedu I., Jennings, Benjamin C., Paulo, Joao A., Gableske, Sebastian, Fierke, Carol A., Getz, Gad, Sunyaev, Shamil R., Wade Harper, J., Cichowski, Karen, Kimmelman, Alec C., Houvras, Yariv, Syngal, Sapna, Williams, Carol, and Goessling, Wolfram

Published
2019
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50. Concept Maps as Research Tools in Mathematics.

Author

Williams, Carol G.

Abstract

Reform efforts in mathematics aim to increase conceptual understanding, an aim that can be supported through concept maps. This study compared the conceptual knowledge of function held by college students in reform and traditional calculus sections at a large state university. Fourteen students from reform sections and 14 from traditional sections served as subjects. A primary task was the construction of a concept map of function. Four instructors of reform sessions and four from traditional sections also completed concept maps. Quantitative analyses of the concept maps showed that the core contents from both student groups matched poorly with instructors' core concepts. Qualitative analysis of the student maps revealed differences between the student groups, with the reform group using terminology common in the reform text and using fewer algorithmic references than the traditional group. The traditional group's maps contained more algorithmic references to hand-graphing techniques. Maps of both groups were considerably less well-structured than experts' maps and lacked their higher level categories. (Contains 9 figures, 10 tables, and 35 references.) (Author/SLD)

Published
1995

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