Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Marina Kerr"'
Autor:
Morris Scantlebury, Karlene Tanechia Barrett, Simeona Jacinto, David Orlando Christopher Corbin, Marina Kerr, Aneal Khan
Publikováno v:
The Pan African Medical Journal, Vol 38, Iss 111 (2021)
Millions of patients, with suspected complex neurogenetic disorders, living in resource limited regions around the world have no access to genetic testing despite the rapidly expanding availability and decreasing costs of genetic testing in first wor
Externí odkaz:
https://doaj.org/article/b353523d03f542a0b588f084c93310d8
Autor:
Jennifer Bennett, Marina Kerr, Steven C. Greenway, Marisa W. Friederich, Johan L.K. Van Hove, Dustin Hittel, Aneal Khan
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100616- (2020)
Mitochondrial methionyl-tRNA formyltransferase (MTFMT) is a nuclear-encoded gene that produces a protein involved in mitochondrial translation. MTFMT formylates a portion of Met-tRNAMet, which allows for translation initiation of mitochondrial mRNA.
Externí odkaz:
https://doaj.org/article/7e01c5a3704b4c5cb0f2b7b298dac361
Autor:
Ping Yee Billie Au, Setareh Ashtiani, Marina Kerr, Juan Pablo Appendino, Paolo Federico, Karl Martin Klein, Aneal Khan, Christina Cherian, Christine P. Molnar
Publikováno v:
Journal of Neurology. 269:2162-2171
Pathogenic variants in KCNT1 have been associated with severe forms of epilepsy, typically sleep-related hypermotor epilepsy or epilepsy of infancy with migrating focal seizures. To show that pathogenic variants in KCNT1 can be associated with mild e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::018153fafa4da066876ada6bb4a39fd0
https://doi.org/10.1007/s00415-021-10808-y
https://doi.org/10.1007/s00415-021-10808-y
Autor:
Iman Al Khatib, Jingti Deng, Andrew Symes, Marina Kerr, Hongliang Zhang, Shar-yin Naomi Huang, Yves Pommier, Aneal Khan, Timothy E. Shutt
Publikováno v:
The Journal of biological chemistry. 298(10)
TOP1MT encodes a mitochondrial topoisomerase that is important for mtDNA regulation and is involved in mitochondrial replication, transcription, and translation. Two variants predicted to affect TOP1MT function (V1 - R198C and V2 - V338L) were identi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46e7c2da530d7f4bd1e15ae52670e414
https://pubmed.ncbi.nlm.nih.gov/36030054
https://pubmed.ncbi.nlm.nih.gov/36030054
Autor:
Roman J. McDonald, Hanen Alfuhaid, Marina Kerr, Aneal Khan, Dustin S. Hittel, Xing-Chang Wei, Suhaib Aman, Desmond Koo, Rebecca Sparkes, Maida Khan, Heather Barnes, Liam McDonald, Stacey Hume, Christopher Newell, Fadya Omar
Publikováno v:
Molecular Genetics and Metabolism. 131:66-82
Mitochondrial diseases, due to nuclear or mitochondrial genome mutations causing mitochondrial dysfunction, have a wide range of clinical features involving neurologic, muscular, cardiac, hepatic, visual, and auditory symptoms. Making a diagnosis of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93e05de12992af4f56aa51f48505f680
https://doi.org/10.1016/j.ymgme.2020.08.009
https://doi.org/10.1016/j.ymgme.2020.08.009
Autor:
Georg F. Vogel, Yael Mozer-Glassberg, Yuval E. Landau, Lea D. Schlieben, Holger Prokisch, René G. Feichtinger, Johannes A. Mayr, Heiko Brennenstuhl, Julian Schröter, Agnes Pechlaner, Fowzan S. Alkuraya, Joshua J. Baker, Giulia Barcia, Ivo Baric, Nancy Braverman, Birute Burnyte, John Christodoulou, Elzbieta Ciara, David Coman, Anibh M. Das, Niklas Darin, Adela Della Marina, Felix Distelmaier, Erik A. Eklund, Melike Ersoy, Weiyan Fang, Pauline Gaignard, Rebecca D. Ganetzky, Emmanuel Gonzales, Caoimhe Howard, Joanne Hughes, Vassiliki Konstantopoulou, Melis Kose, Marina Kerr, Aneal Khan, Dominic Lenz, Robert McFarland, Merav Gil Margolis, Kevin Morrison, Thomas Müller, Kei Murayama, Emanuele Nicastro, Alessandra Pennisi, Heidi Peters, Dorota Piekutowska-Abramczuk, Agnès Rötig, René Santer, Fernando Scaglia, Manuel Schiff, Mohmmad Shagrani, Mark Sharrard, Claudia Soler-Alfonso, Christian Staufner, Imogen Storey, Michael Stormon, Robert W. Taylor, David R. Thorburn, Elisa Leao Teles, Jian-She Wang, Daniel Weghuber, Saskia Wortmann
Publikováno v:
Genetics in Medicine, 25, 6
Genet. Med., 100314 (2022)
Genetics in Medicine, 25
Genet. Med., 100314 (2022)
Genetics in Medicine, 25
Purpose: The study aimed to define the genotypic and phenotypic spectrum of reversible acute liver failure (ALF) of infancy resulting from biallelic pathogenic TRMU variants and to determine the role of cysteine supplementation in its treatment. Meth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34d2d162b7b4a0245f739ac55e7b742a
https://doi.org/10.1016/j.gim.2022.09.015
https://doi.org/10.1016/j.gim.2022.09.015
Autor:
Iman Al Khatib, Jingti Deng, Andrew Symes, Marina Kerr, Hongliang Zhang, Sharyin Huang, Yves Pommier, Aneal Khan, Timothy E Shutt
TOP1MT encodes a mitochondrial topoisomerase that is important for mtDNA regulation, and that is involved in mitochondrial replication, transcription and translation. Two variants predicted to affect TOP1MT function (V1 - R198C and V2 - V338L) were i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1ff9bd51a3581053179d8cade855a070
https://doi.org/10.1101/2021.08.02.454711
https://doi.org/10.1101/2021.08.02.454711
Autor:
Christina, Cherian, Juan P, Appendino, Setareh, Ashtiani, Paolo, Federico, Christine P, Molnar, Marina, Kerr, Aneal, Khan, Ping Yee Billie, Au, Karl Martin, Klein
Publikováno v:
Journal of neurology. 269(4)
Pathogenic variants in KCNT1 have been associated with severe forms of epilepsy, typically sleep-related hypermotor epilepsy or epilepsy of infancy with migrating focal seizures. To show that pathogenic variants in KCNT1 can be associated with mild e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1092ff48c3368b068467e605a2dc422b
https://pubmed.ncbi.nlm.nih.gov/34537872
https://pubmed.ncbi.nlm.nih.gov/34537872
Publikováno v:
Child Neurology Open
Child Neurology Open, Vol 7 (2020)
Child Neurology Open, Vol 7 (2020)
This case report describes 2 siblings with myoclonic epilepsy who had novel mutations in the glutamine synthetase ( GLUL) gene: c.316C>T, p.(Arg106*) and c.42G>C, p.(Lys14Asn). Valproic acid improved seizure control, but was associated with hyperammo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21a8e4de90dafcaf76fb677654c5179d
http://europepmc.org/articles/PMC7585879
http://europepmc.org/articles/PMC7585879
Autor:
Aneal Khan MSc, MD, FRCPC, FCCMG, Jennifer Bennett BA, Morris H. Scantlebury MD, diplomate ABPN, CSCN (EEG), Xing-Chang Wei MB, MSc, FRCPC, Marina Kerr BHSc and BHSc (Hon)
Publikováno v:
Child Neurology Open, Vol 6 (2019)
Aminoacyl transfer RNA (tRNA) synthetase complex-interacting multifunctional protein I is a noncatalytic component of tRNA multi-synthetase complexes. Although important in joining tRNAs to their cognate amino acids, AIMP1 has several other functions
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::3f27d75b6812367fd9f44659ea7001ca
https://doaj.org/article/0f86052ff99f466fb2d82c720177b554
https://doaj.org/article/0f86052ff99f466fb2d82c720177b554