Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Gagan B, Panigrahi"'
Autor:
Gagan B. Panigrahi, Jean-Yves Masson, Amit Laxmikant Deshmukh, Antonio Porro, Mohiuddin Mohiuddin, Stella Lanni, Christopher E. Pearson, Alessandro A. Sartori, Marie-Christine Caron
Publikováno v:
Journal of Huntington's Disease
FAN1 encodes a DNA repair nuclease. Genetic deficiencies, copy number variants, and single nucleotide variants of FAN1 have been linked to karyomegalic interstitial nephritis, 15q13.3 microdeletion/microduplication syndrome (autism, schizophrenia, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7e92a8368c843dfd093416c7ac00b39
https://doi.org/10.3233/jhd-200448
https://doi.org/10.3233/jhd-200448
Autor:
Theodore W. Laetsch, Luis Alberto Pedroza, Brittany Campbell, Mark L. Bernstein, An Van Damme, Scott Lindhorst, Bruce Crooks, Melyssa Aronson, Jagadeesh Ramdas, Shlomi Constantini, Patrick Tomboc, Ashraf Shamvil, Ben George, Gary Mason, Vanan Magimairajan, Garth Nicholas, Uri Tabori, Kami Wolfe Schneider, William D. Foulkes, Lisa Yu, Kara Semotiuk, David Sumerauer, Cindy Zhang, Rebecca C. Luiten, Sara Carroll, Michal Zapotocky, Stella Lanni, Christopher E. Pearson, Laura Palma, Ariane Mandel, David Malkin, Daniel C. Bowers, Melissa Edwards, Andrew Y. Shuen, Nobuko Hijiya, Rina Dvir, Warren Mason, Gagan B. Panigrahi, Nataliya Zhukova, Roula Farah, Michael Yalon Oren, Oz Mordechai, Eric Bouffet, Helen Toledano, Naureen Mushtaq, Musa Alharbi, Margaret E. Wierman, Kristina A. Cole, Andrea H. Seeley, S. Gallinger, Yi Yen Lee, Valerie Larouche, Carol Durno, David Samuel
Publikováno v:
Journal of clinical oncology, Vol. 37, no.6, p. 461-470 (2019)
Purpose Constitutional mismatch repair deficiency (CMMRD) is a highly penetrant cancer predisposition syndrome caused by biallelic mutations in mismatch repair (MMR) genes. As several cancer syndromes are clinically similar, accurate diagnosis is cri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9db2df8de98a692f0db34941043a3b9
https://doi.org/10.1200/jco.18.00474
https://doi.org/10.1200/jco.18.00474
Autor:
Ryan K. C. Yuen, Jean-Yves Masson, Mahreen Khan, Marie-Christine Caron, Amit Laxmikant Deshmukh, Natalie Shum, Masayuki Nakamori, Worrawat Engchuan, Stella Lanni, Christopher E. Pearson, Gagan B. Panigrahi, Peixiang Wang, Mohiuddin Mohiuddin, Kazuhiko Nakatani, Aisha Faruqui
SummaryFAN1 nuclease is a modifier of repeat expansion diseases, including Huntington’s disease (HD), fragile X syndrome, and autism. The age of HD onset correlates with ongoing ‘inchworm-like’ repeat expansions (1-3 CAG units/event) in HD brai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aae98ac2c0cea282dabedfe2407dc1e3
https://doi.org/10.1101/2021.04.15.439995
https://doi.org/10.1101/2021.04.15.439995
Autor:
Ricardo Mouro Pinto, Ella Dragileva, Andrew Kirby, Alejandro Lloret, Edith Lopez, Jason St Claire, Gagan B Panigrahi, Caixia Hou, Kim Holloway, Tammy Gillis, Jolene R Guide, Paula E Cohen, Guo-Min Li, Christopher E Pearson, Mark J Daly, Vanessa C Wheeler
Publikováno v:
PLoS Genetics, Vol 9, Iss 10, p e1003930 (2013)
The Huntington's disease gene (HTT) CAG repeat mutation undergoes somatic expansion that correlates with pathogenesis. Modifiers of somatic expansion may therefore provide routes for therapies targeting the underlying mutation, an approach that is li
Externí odkaz:
https://doaj.org/article/d07c6027fd15471d92356b349cb1ba4e
Autor:
Gagan B. Panigrahi, Arturo López Castel, August B. Pearson, Alan E. Tomkinson, Meghan M. Slean, Christopher E. Pearson
Publikováno v:
DNA Repair. 42:107-118
Typically disease-causing CAG/CTG repeats expand, but rare affected families can display high levels of contraction of the expanded repeat amongst offspring. Understanding instability is important since arresting expansions or enhancing contractions
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7602d9378bcb7e2790bfe42a365dfaf8
https://doi.org/10.1016/j.dnarep.2016.04.002
https://doi.org/10.1016/j.dnarep.2016.04.002
Autor:
Takahiro Otabe, Terence Gall-Duncan, Stella Lanni, Scott Davidson, John Huddleston, Christopher E. Pearson, Hana Tanaka, Jinxing Li, Lisa-Monique Edward, Marc S. Wold, Jean-Yves Masson, Adam Shlien, Masanori P. Takahashi, Kazuhiko Nakatani, Evan E. Eichler, Marietta Y.W.T. Lee, Marie-Christine Caron, Karen Chiang, Jennifer Luo, Xiaoxiao Wang, Hideki Hayakawa, Niraj Joshi, Mehdi Layeghifard, Gagan B. Panigrahi, Mauro Santibanez-Koref, Hideki Mochizuki, Akihiro Sakata, Katherine M. Munson, Richard Gallon, Asako Murata, Masayuki Nakamori, Tanya Prasolava
Publikováno v:
Nature genetics
In many repeat diseases, such as Huntington's disease (HD), ongoing repeat expansions in affected tissues contribute to disease onset, progression and severity. Inducing contractions of expanded repeats by exogenous agents is not yet possible. Tradit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab0da769de8eae0819717d05ea77722b
https://pubmed.ncbi.nlm.nih.gov/32060488
https://pubmed.ncbi.nlm.nih.gov/32060488
Autor:
Samuel P. Strom, Naghmeh Dorrani, Jean Reiss, Hane Lee, Peter Shintaku, Andrew Y. Shuen, Christopher E. Pearson, Fred H. Laningham, Eric Vilain, Joseph J. Shen, Gagan B. Panigrahi, Sibel Kantarci, David Samuel, Xinmin Li, Rina Kansal, Joshua L. Deignan, Wayne W. Grody
Publikováno v:
Genes, Chromosomes and Cancer. 55:131-142
A 4-month-old male infant presented with severe developmental delay, cerebellar, brainstem, and cutaneous hemangiomas, bilateral tumors (vestibular, hypoglossal, cervical, and lumbar spinal), and few cafe-au-lait macules. Cerebellar and lumbar tumor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::82f9580c38b35e4ed68506ac2cc38957
https://doi.org/10.1002/gcc.22319
https://doi.org/10.1002/gcc.22319
Autor:
Adam, Shlien, Brittany B, Campbell, Richard, de Borja, Ludmil B, Alexandrov, Daniele, Merico, David, Wedge, Peter, Van Loo, Patrick S, Tarpey, Paul, Coupland, Sam, Behjati, Aaron, Pollett, Tatiana, Lipman, Abolfazl, Heidari, Shriya, Deshmukh, Na'ama, Avitzur, Bettina, Meier, Moritz, Gerstung, Ye, Hong, Diana M, Merino, Manasa, Ramakrishna, Marc, Remke, Roland, Arnold, Gagan B, Panigrahi, Neha P, Thakkar, Karl P, Hodel, Erin E, Henninger, A Yasemin, Göksenin, Doua, Bakry, George S, Charames, Harriet, Druker, Jordan, Lerner-Ellis, Matthew, Mistry, Rina, Dvir, Ronald, Grant, Ronit, Elhasid, Roula, Farah, Glenn P, Taylor, Paul C, Nathan, Sarah, Alexander, Shay, Ben-Shachar, Simon C, Ling, Steven, Gallinger, Shlomi, Constantini, Peter, Dirks, Annie, Huang, Stephen W, Scherer, Richard G, Grundy, Carol, Durno, Melyssa, Aronson, Anton, Gartner, M Stephen, Meyn, Michael D, Taylor, Zachary F, Pursell, Christopher E, Pearson, David, Malkin, P Andrew, Futreal, Michael R, Stratton, Eric, Bouffet, Cynthia, Hawkins, Peter J, Campbell, Uri, Tabori
Publikováno v:
Nature Genetics. 47:257-262
DNA replication-associated mutations are repaired by two components: polymerase proofreading and mismatch repair. The mutation consequences of disruption to both repair components in humans are not well studied. We sequenced cancer genomes from child
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2872d9f4b6d4f6a48ba693ff41bee84f
https://doi.org/10.1038/ng.3202
https://doi.org/10.1038/ng.3202
Publikováno v:
Journal of Biological Chemistry. 287:41844-41850
Mismatch repair (MMR) is required for proper maintenance of the genome by protecting against mutations. The mismatch repair system has also been implicated as a driver of certain mutations, including disease-associated trinucleotide repeat instabilit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76c27c5ef9303c65468983853a668c96
https://doi.org/10.1074/jbc.m112.420398
https://doi.org/10.1074/jbc.m112.420398
Publikováno v:
DNA Repair. 7:1135-1154
While DNA repair proteins are generally thought to maintain the integrity of the whole genome by correctly repairing mutagenic DNA intermediates, there are cases where DNA "repair" proteins are involved in causing mutations instead. For instance, som
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2cf6e358f94e924d9fde4ffa7df6bd2
https://doi.org/10.1016/j.dnarep.2008.03.014
https://doi.org/10.1016/j.dnarep.2008.03.014