Zobrazeno 1 - 10
of 101
pro vyhledávání: '"Kit Sing Au"'
Autor:
Hongyu Luo, Linjiang Lao, Kit Sing Au, Hope Northrup, Xiao He, Diane Forget, Marie-Soleil Gauthier, Benoit Coulombe, Isabelle Bourdeau, Wei Shi, Lucia Gagliardi, Maria Candida Barisson Villares Fragoso, Junzheng Peng, Jiangping Wu
Publikováno v:
Genome Biology, Vol 25, Iss 1, Pp 1-42 (2024)
Abstract Background Neural tube defects (NTDs) are caused by genetic and environmental factors. ARMC5 is part of a novel ubiquitin ligase specific for POLR2A, the largest subunit of RNA polymerase II (Pol II). Results We find that ARMC5 knockout mice
Externí odkaz:
https://doaj.org/article/5dba6e1a966c401b883f1f1b4da5dd56
Autor:
Paul Hillman, Craig Baker, Luke Hebert, Michael Brown, James Hixson, Allison Ashley‐Koch, Alanna C. Morrison, Hope Northrup, Kit Sing Au
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
Abstract Background Neural tube defects (NTDs) are the second most common complex birth defect, yet, our understanding of the genetic contribution to their development remains incomplete. Two environmental factors associated with NTDs are Folate and
Externí odkaz:
https://doaj.org/article/0209ff22ada74b249d679797bfbed3e7
Autor:
Luke Hebert, Paul Hillman, Craig Baker, Michael Brown, Allison Ashley-Koch, James E Hixson, Alanna C Morrison, Hope Northrup, Kit Sing Au
Publikováno v:
PLoS ONE, Vol 15, Iss 9, p e0239083 (2020)
Genes in the noncanonical WNT signaling pathway controlling planar cell polarity have been linked to the neural tube defect myelomeningocele. We hypothesized that some genes in the WNT signaling network have a higher mutational burden in myelomeningo
Externí odkaz:
https://doaj.org/article/0cd6b0292bff4b4298e67158fe1a2986
Autor:
Katie R. Martin, Wanding Zhou, Megan J. Bowman, Juliann Shih, Kit Sing Au, Kristin E. Dittenhafer-Reed, Kellie A. Sisson, Julie Koeman, Daniel J. Weisenberger, Sandra L. Cottingham, Steven T. DeRoos, Orrin Devinsky, Mary E. Winn, Andrew D. Cherniack, Hui Shen, Hope Northrup, Darcy A. Krueger, Jeffrey P. MacKeigan
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-13 (2017)
Tuberous sclerosis complex (TSC) is a rare genetic disease causing multisystem tumour growth. Here the authors analyse 111 TSC-associated tissues for TSC1/TSC2 status, DNA mutations, copy number aberrations, differential gene expression and DNA methy
Externí odkaz:
https://doaj.org/article/cce878691c884b4cbf1df21c1d12c2c9
Autor:
Catherine J Spellicy, Hope Northrup, Jack M Fletcher, Paul T Cirino, Maureen Dennis, Alanna C Morrison, Carla A Martinez, Kit Sing Au
Publikováno v:
PLoS ONE, Vol 7, Iss 12, p e51330 (2012)
The objective of this study was to examine the relation between the 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene and behaviors related to attention- deficit/hyperactivity disorder (ADHD) in individuals with myelomeningocele. The rationale f
Externí odkaz:
https://doaj.org/article/0df75b86e0934f8b816ce93edc962db9
Autor:
Keng Ioi Vong, SangmoonLee, Kit Sing Au, Crowley, T. Blaine, Capra, Valeria, Martino, Jeremiah, Haller, Meade, Araújo, Camila, Machado, Hélio R., George, Renee, Gerding, Bryn, James, Kiely N., Stanley, Valentina, Nan Jiang, Alu, Kameron, Naomi Meave, Nidhiry, Anna S., Jiwani, Fiza, Tang, Isaac, Nisal, Ashna
Publikováno v:
Science; 5/3/2024, Vol. 384 Issue 6695, p584-590, 7p, 3 Diagrams
Autor:
Elke Bogaert, Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc, Emma van Reempts, Frederic Tran Mau-Them, Ingrid M. Wentzensen, Kit Sing Au, Kate Richardson, Hope Northrup, Vincent Gatinois, David Geneviève, Raymond J. Louie, Michael J. Lyons, Lone Walentin Laulund, Charlotte Brasch-Andersen, Trine Maxel Juul, Fatima El It, Nathalie Marle, Patrick Callier, Raissa Relator, Sadegheh Haghshenas, Haley McConkey, Jennifer Kerkhof, Claudia Cesario, Antonio Novelli, Nicola Brunetti-Pierri, Michele Pinelli, Perrine Pennamen, Sophie Naudion, Marine Legendre, Cécile Courdier, Aurelien Trimouille, Martine Doco Fenzy, Lynn Pais, Alison Yeung, Kimberly Nugent, Elizabeth R. Roeder, Tadahiro Mitani, Jennifer E. Posey, Daniel Calame, Hagith Yonath, Jill A. Rosenfeld, Luciana Musante, Flavio Faletra, Francesca Montanari, Giovanna Sartor, Alessandra Vancini, Marco Seri, Claude Besmond, Karine Poirier, Laurence Hubert, Dimitri Hemelsoet, Arnold Munnich, James R. Lupski, Christophe Philippe, Christel Thauvin-Robinet, Laurence Faivre, Bekim Sadikovic, Jérôme Govin, Bart Dermaut, Antonio Vitobello
Publikováno v:
AMERICAN JOURNAL OF HUMAN GENETICS
SRSF1 (also known as ASF/SF2) is a non-small nuclear ribonucleoprotein (non-snRNP) that belongs to the arginine/serine (R/S) domain family. It recognizes and binds to mRNA, regulating both constitutive and alternative splicing. The complete loss of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a5551e236309b7081069f46ca7428ec
https://hdl.handle.net/1854/LU-01GYYM7M9B6XFW9NMT6Y4E6XMM
https://hdl.handle.net/1854/LU-01GYYM7M9B6XFW9NMT6Y4E6XMM
Autor:
Kai Ming Chow, Curie Ahn, Ian Dittmer, Derrick Kit-Sing Au, Ian Cheung, Yuk Lun Cheng, Chak Sing Lau, Deacons Tai-Kong Yeung, Philip Kam-Tao Li
Publikováno v:
Seminars in nephrology.
Despite the effectiveness of solid organ transplantation, progress to close the gap between donor organs and demand remains slow. An organ shortage increases the waiting time for transplant and involves significant costs including patient morbidity a
Autor:
Chunyan Wang, Steve Seltzsam, Bixia Zheng, Chen‐Han Wilfred Wu, Camille Nicolas‐Frank, Kirollos Yousef, Kit Sing Au, Nina Mann, Dalia Pantel, Sophia Schneider, Luca Schierbaum, Thomas M. Kitzler, Dervla M. Connaughton, Youying Mao, Rufeng Dai, Makiko Nakayama, Jameela A. Kari, Sherif El Desoky, Mohammed Shalaby, Loai A. Eid, Hazem S. Awad, Velibor Tasic, Shrikant M. Mane, Richard P. Lifton, Michelle A. Baum, Shirlee Shril, Carlos R. Estrada, Friedhelm Hildebrandt
Publikováno v:
Am J Med Genet A
BACKGROUND: Spina bifida (SB) is the second most common nonlethal congenital malformation. The existence of monogenic SB mouse models and human monogenic syndromes with SB features indicate that human SB may be caused by monogenic genes. We hypothesi
Autor:
Jeannine Garnett, Eric P. Bergh, Lovepreet Mann, Kuojen Tsao, Mary Austin, Anthony Johnson, Hope Northrup, Kit Sing Au, Brandon Miller, Stephen A. Fletcher, Ramesha Papanna
Publikováno v:
American Journal of Obstetrics and Gynecology. 228:S383-S384