Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Matilda R. Jackson"'
Autor:
Patricia J. Sullivan, Velimir Gayevskiy, Ryan L. Davis, Marie Wong, Chelsea Mayoh, Amali Mallawaarachchi, Yvonne Hort, Mark J. McCabe, Sarah Beecroft, Matilda R. Jackson, Peer Arts, Andrew Dubowsky, Nigel Laing, Marcel E. Dinger, Hamish S. Scott, Emily Oates, Mark Pinese, Mark J. Cowley
Publikováno v:
Genome Biology, Vol 24, Iss 1, Pp 1-18 (2023)
Abstract Predicting the impact of coding and noncoding variants on splicing is challenging, particularly in non-canonical splice sites, leading to missed diagnoses in patients. Existing splice prediction tools are complementary but knowing which to u
Externí odkaz:
https://doaj.org/article/a68b29b28f7044f1a5d703764aca0078
Autor:
Karagh E. Loring, Tessa Mattiske, Kristie Lee, Aneta Zysk, Matilda R. Jackson, Jeffrey L. Noebels, Cheryl Shoubridge
Publikováno v:
Neurobiology of Disease, Vol 153, Iss , Pp 105329- (2021)
Children with severe intellectual disability have an increased prevalence of refractory seizures. Steroid treatment may improve seizure outcomes, but the mechanism remains unknown. Here we demonstrate that short term, daily delivery of an exogenous s
Externí odkaz:
https://doaj.org/article/235544c8c6c84f93b1147cc49cc216ea
Autor:
Matilda R. Jackson, Kristie Lee, Tessa Mattiske, Emily J. Jaehne, Ezgi Ozturk, Bernhard T. Baune, Terence J. O'Brien, Nigel Jones, Cheryl Shoubridge
Publikováno v:
Neurobiology of Disease, Vol 105, Iss , Pp 245-256 (2017)
The Aristaless-related homeobox gene (ARX) is a known intellectual disability (ID) gene that frequently presents with X-linked infantile spasm syndrome as a comorbidity. ID with epilepsy in children is a chronic and devastating disorder that has poor
Externí odkaz:
https://doaj.org/article/fe487acfa76d44f2a56a861f9de7558a
Publikováno v:
Diseases, Vol 5, Iss 1, p 5 (2017)
Mucopolysaccharidosis type I (MPS I) is the most common form of the MPS group of genetic diseases. MPS I results from a deficiency in the lysosomal enzyme α-l-iduronidase, leading to accumulation of undegraded heparan and dermatan sulphate glycosami
Externí odkaz:
https://doaj.org/article/0b98d3909f0341459ba9eda401fb0aea
Autor:
Dominyka Batkovskyte, Fiona McKenzie, Fulya Taylan, Pelin Ozlem Simsek‐Kiper, Sarah M Nikkel, Hirofumi Ohashi, Roger E Stevenson, Thuong Ha, Denise P Cavalcanti, Hiroyuki Miyahara, Steven A Skinner, Miguel A Aguirre, Zühal Akçören, Gulen Eda Utine, Tillie Chiu, Kenji Shimizu, Anna Hammarsjö, Koray Boduroglu, Hannah W Moore, Raymond J Louie, Peer Arts, Allie N Merrihew, Milena Babic, Matilda R Jackson, Nikos Papadogiannakis, Anna Lindstrand, Ann Nordgren, Christopher P Barnett, Hamish S Scott, Andrei S Chagin, Gen Nishimura, Giedre Grigelioniene
Publikováno v:
Journal of Bone and Mineral Research. 38:692-706
Refereed/Peer-reviewed Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356), also called dysplastic cortical hyperostosis, Al-Gazali type, is an ultra-rare disorder previously reported in only three unrelated individuals. The genetic et
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0811f8a136c9e97697b6bc08c12756b
https://doi.org/10.1002/jbmr.4799
https://doi.org/10.1002/jbmr.4799
Autor:
Wan Chin Liaw, Janice M. Fletcher, Peter Sharp, Matilda R. Jackson, Xiaodan Ding, Chun Ong, Xenia Kaidonis, Enzo Ranieri, Sharon Byers, Ainslie L.K. Derrick-Roberts
Publikováno v:
Molecular Genetics and Metabolism. 131:197-205
The cause of neurodegeneration in MPS mouse models is the focus of much debate and what the underlying cause of disease pathology in MPS mice is. The timing of development of pathology and when this can be reversed or impacted is the key to developin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d807843dcbe6d556c2ee4f944e700636
https://doi.org/10.1016/j.ymgme.2020.07.006
https://doi.org/10.1016/j.ymgme.2020.07.006
Autor:
Jodie Ingles, Kathy H C Wu, Desiree Hilton, Michelle G. de Silva, Linda J. Wornham, Sophie Devery, Matilda R. Jackson, Michael C.J. Quinn, Clifford Afoakwah, Stefanie Elbracht-Leong, Alejandro Metke-Jimenez, Christopher Semsarian, Julie McGaughran, Angela Overkov, Gemma Correnti, Jaye S. Brown, Hugo Leroux, Ellenore M. Martin, John Atherton, Rachel Austin, Ivan Macciocca, Paul Anthony Scuffham, T. Thompson
Background: This sub-study of the Australian Genomics Cardiovascular Genetic Disorders Flagship sought to conduct the first nation-wide audit in Australia to establish the current practices across cardiac genetics clinics. Method: An audit of records
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7b9def0bf9b0f6a440bf2919f660ec2
https://hdl.handle.net/11541.2/147358
https://hdl.handle.net/11541.2/147358
Autor:
Carlos H. Vieira-Vieira, Ajay Taranath, Achim Dickmanns, Ramona Jühlen, Sylvie Picker-Minh, Nuno Martins, Yuval Salzberg, Hamish S. Scott, Peer Arts, Thuong Ha, Paraskevi Bessa, Ethiraj Ravindran, Na Li, Gisela Stoltenburg-Didinger, Matilda R. Jackson, Boris Fichtman, Angela M. Kaindl, Birthe Fahrenkrog, Amnon Harel, Benjamin Kamien, Lena Luise-Becker, Hao Hu, Matthias Selbach, Victor Tarabykin, Christopher Barnett
Publikováno v:
Human Molecular Genetics.
Primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders (MCPH-SCKS) include a heterogeneous group of autosomal recessive inherited diseases characterized by primary (congenital) microcephaly, the absence of visceral abnormalit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cc21b12d915fc61434d361bca0460169
https://doi.org/10.1093/hmg/ddab160
https://doi.org/10.1093/hmg/ddab160
Autor:
Aneta Zysk, Tessa Mattiske, Karagh E. Loring, Kristie Lee, Matilda R. Jackson, Cheryl Shoubridge, Jeffrey L. Noebels
Publikováno v:
Neurobiology of Disease, Vol 153, Iss, Pp 105329-(2021)
Children with severe intellectual disability have an increased prevalence of refractory seizures. Steroid treatment may improve seizure outcomes, but the mechanism remains unknown. Here we demonstrate that short term, daily delivery of an exogenous s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::654edc50c9bd7bea0bdd8561cd6a6736
https://pubmed.ncbi.nlm.nih.gov/33711494
https://pubmed.ncbi.nlm.nih.gov/33711494
Autor:
Ainslie Derrick-Roberts, Xenia Kaidonis, Matilda R. Jackson, Wan Chin Liaw, XiaoDan Ding, Chun Ong, Enzo Ranieri, Peter Sharp, Janice Fletcher, Sharon Byers
Publikováno v:
Molecular Genetics and Metabolism. 135:114
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8298cdfbef973f2e7b01e79cc25e30fa
https://doi.org/10.1016/j.ymgme.2021.12.011
https://doi.org/10.1016/j.ymgme.2021.12.011