Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Danica, Novacic"'
Autor:
Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, Genomics England Research Consortium, Joanna Poulton, Hector Garcia‐Moreno, Paola Giunti, Carlos A deMoura Aschoff, Jonas A Morales Saute, Amelia J Kirby, Camilo Toro, Lynne Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S Gorman, Andrew M Schaefer, Claes M Gustafsson, Robert W Taylor, Maria Falkenberg, Thomas J Nicholls
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 5, Pp n/a-n/a (2023)
Abstract Topoisomerase 3α (TOP3A) is an enzyme that removes torsional strain and interlinks between DNA molecules. TOP3A localises to both the nucleus and mitochondria, with the two isoforms playing specialised roles in DNA recombination and replica
Externí odkaz:
https://doaj.org/article/c9e7e4ced0784d4394725c67d2a116f4
Autor:
Danica Novacic, William Gahl, Johan Van Hove, Marisa W. Friederich, Dana Strode, Roxanne Van Hove
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100286- (2023)
Externí odkaz:
https://doaj.org/article/bb6bc6297ed5498686efcb246ca9a4b2
Autor:
Howard J. Li, Catherine Groden, Melanie P. Hoenig, Evan C. Ray, Carlos R. Ferreira, Willam Gahl, Danica Novacic
Publikováno v:
BMC Nephrology, Vol 20, Iss 1, Pp 1-6 (2019)
Abstract Background 17q12 deletion syndrome encompasses a broad constellation of clinical phenotypes, including renal magnesium wasting, maturity-onset diabetes of the young (MODY), renal cysts, genitourinary malformations, and neuropsychiatric illne
Externí odkaz:
https://doaj.org/article/26bceb58cbcb42f3ad1c26abbf894b26
Autor:
Sarthak Gupta, Amanda K. Ombrello, Emily Rominger, Megan Trick, Karyl S. Barron, Ryan S. Laird, Sinisa Savic, Shuichiro Nakabo, Daniela Ospina Cardona, Ivona Aksentijevich, Carmelo Carmona-Rivera, Gustaf Wigerblad, Mariana J. Kaplan, Emma M. Groarke, Laura W. Dillon, Chyi-Chia Richard Lee, Kalpana Manthiram, Kristina V. Wells, Nicholas Balanda, Zhijie Wu, Helen J. Lachmann, Daniel L. Kastner, Fernanda Gutierrez-Rodrigues, Achim Werner, Michele Nehrebecky, Lisha Xu, Alina Dulau-Florea, Wanxia L. Tsai, Bhavisha A Patel, Stefania Dell'Orso, Weixin Wang, Anthony J. Asmar, Danica Novacic, Katherine R. Calvo, David B. Beck, Robert A. Colbert, Massimo Gadina, William A. Gahl, Wendy Goodspeed, Natalie Deuitch, Dorota Rowczenio, Peter C. Grayson, Daron L. Ross, Sofia Rosenzweig, Anne Jones, Christopher S. Hourigan, James C. Mullikin, Stephen R. Brooks, Jason C. Collins, Wuhong Pei, May Christine V. Malicdan, Neal S. Young, Shawn M. Burgess, Keith A. Sikora, Mones Abu-Asab, Kyle Retterer, Patrycja Hoffmann, Hirotsugu Oda, Marcela A. Ferrada, Zuoming Deng, Benjamin D. Solomon, Jae Jin Chae
Publikováno v:
New England Journal of Medicine. 383:2628-2638
Background Adult-onset inflammatory syndromes often manifest with overlapping clinical features. Variants in ubiquitin-related genes, previously implicated in autoinflammatory disease, may...
Publikováno v:
Kidney Medicine
In patients with urinary magnesium wasting, oral and intravenous supplementation often fail to adequately improve serum magnesium levels. Glucose intolerance and diabetes mellitus frequently accompany hypomagnesemia. Clinical trials examining inhibit
Autor:
David B, Beck, Marcela A, Ferrada, Keith A, Sikora, Amanda K, Ombrello, Jason C, Collins, Wuhong, Pei, Nicholas, Balanda, Daron L, Ross, Daniela, Ospina Cardona, Zhijie, Wu, Bhavisha, Patel, Kalpana, Manthiram, Emma M, Groarke, Fernanda, Gutierrez-Rodrigues, Patrycja, Hoffmann, Sofia, Rosenzweig, Shuichiro, Nakabo, Laura W, Dillon, Christopher S, Hourigan, Wanxia L, Tsai, Sarthak, Gupta, Carmelo, Carmona-Rivera, Anthony J, Asmar, Lisha, Xu, Hirotsugu, Oda, Wendy, Goodspeed, Karyl S, Barron, Michele, Nehrebecky, Anne, Jones, Ryan S, Laird, Natalie, Deuitch, Dorota, Rowczenio, Emily, Rominger, Kristina V, Wells, Chyi-Chia R, Lee, Weixin, Wang, Megan, Trick, James, Mullikin, Gustaf, Wigerblad, Stephen, Brooks, Stefania, Dell'Orso, Zuoming, Deng, Jae J, Chae, Alina, Dulau-Florea, May C V, Malicdan, Danica, Novacic, Robert A, Colbert, Mariana J, Kaplan, Massimo, Gadina, Sinisa, Savic, Helen J, Lachmann, Mones, Abu-Asab, Benjamin D, Solomon, Kyle, Retterer, William A, Gahl, Shawn M, Burgess, Ivona, Aksentijevich, Neal S, Young, Katherine R, Calvo, Achim, Werner, Daniel L, Kastner, Peter C, Grayson
Publikováno v:
Arthritis Rheumatol
Adult-onset inflammatory syndromes often manifest with overlapping clinical features. Variants in ubiquitin-related genes, previously implicated in autoinflammatory disease, may define new disorders.We analyzed peripheral-blood exome sequence data in
Autor:
Catherine Groden, Danica Novacic, Melanie P. Hoenig, Howard J. Li, W.A. Gahl, Carlos Ferreira, Evan C. Ray
Publikováno v:
BMC Nephrology, Vol 20, Iss 1, Pp 1-6 (2019)
BMC Nephrology
BMC Nephrology
Background 17q12 deletion syndrome encompasses a broad constellation of clinical phenotypes, including renal magnesium wasting, maturity-onset diabetes of the young (MODY), renal cysts, genitourinary malformations, and neuropsychiatric illness. Manif
Autor:
Katherine Anderson, Tom O. A. R. Missotten, Pauline C. Ng, James Malatack, Albert T. Vitale, Linda Zheng, Denise J. Morgan, Shankaracharya, Frank Martin, Robyn V. Jamieson, Alexis Jiaying Khng, Gary L. Farley, Iris H.I.M. Hollink, Leah A. Owen, Krista Kinard, Amin Sabri, Michael Polo, Julie Curtin, Kathleen B. Digre, John R. Grigg, Axel M. Hillmer, Margaux A. Morrison, Susan Arbuckle, P. Martin van Hagen, Neena B. Haider, Marjon van Slegtenhorst, Danica Novacic, George M. Rodgers, Rebecca Greenlees, Lloyd B. Williams, Anson Cheng, H. Nida Sen, Megan Chircop, Xiu Ting Heng, Mark C Gillies, Wadih M. Zein, Margaret M. DeAngelis, Sonia Davila, Stephen I. Alexander, Asif Javed, Chad D. Huff
Publikováno v:
Genetics in Medicine, 21(9), 2103-2115. Lippincott Williams & Wilkins
Genetics in Medicine
Genetics in Medicine
Purpose To identify the molecular cause in five unrelated families with a distinct autosomal dominant ocular systemic disorder we called ROSAH syndrome due to clinical features of retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and mi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa53f311e1b3f3b6cdba7523a27dca29
https://pure.eur.nl/en/publications/1a39b99a-08db-4031-b28c-f8f093f2a616
https://pure.eur.nl/en/publications/1a39b99a-08db-4031-b28c-f8f093f2a616
Autor:
Lynne A. Wolfe, Jill A. Rosenfeld, Julia Silver, Marco Sardiello, Andrea Hanson-Kahn, Yaping Yang, Danica Novacic, Yanjun Jiang, Stella Chen, Colleen E. Wahl, Dominyka Batkovskyte, Vipulkumar Patel, David Chitayat, Wenmiao Zhu, Neil A. Hanchard, Jonathan A. Bernstein, Yunru Shao, Xia Wang, Pilar L. Magoulas, Ronit Marom, Chun-An Chen, Brendan Lee, Caitlin L. Hale, Shirley Shuster, Pengfei Liu, Christian P. Schaaf, Mari Tokita, Louanne Hudgins, Ellen Macnamara, Amitha Ananth, Chester W. Brown, Christine M. Eng, Camilo Toro, Alberto di Ronza, Andrea M. Lewis, Cynthia J. Tifft
Publikováno v:
American journal of human genetics. 103(1)
TRAF7 is a multi-functional protein involved in diverse signaling pathways and cellular processes. The phenotypic consequence of germline TRAF7 variants remains unclear. Here we report missense variants in TRAF7 in seven unrelated individuals referre
Autor:
Robert A. Vogel, Valerie Beach, Jeffrey Rhyne, John D. Sorkin, C. Dobmeier, Charles Mangano, Michael Miller, Danica Novacic
Publikováno v:
Journal of the American Dietetic Association. 109(4)
Although popular diets focus on weight loss and their favorable biochemical and physiological effects, fewer investigations have evaluated the biological impact of these diets during weight maintenance. To study this issue, three popular diets—Atki