Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Sandy S. Pineda"'
Publikováno v:
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-20 (2021)
Abstract Background Short tandem repeat (STR) expansion disorders are an important cause of human neurological disease. They have an established role in more than 40 different phenotypes including the myotonic dystrophies, Fragile X syndrome, Hunting
Externí odkaz:
https://doaj.org/article/edda3574e96d4cdba97a0cfac1ba0d79
Autor:
Fernanda C. Cardoso, Sandy S. Pineda, Volker Herzig, Kartik Sunagar, Naeem Yusuf Shaikh, Ai-Hua Jin, Glenn F. King, Paul F. Alewood, Richard J. Lewis, Sébastien Dutertre
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 21, p 13077 (2022)
Australian funnel-web spiders are amongst the most dangerous venomous animals. Their venoms induce potentially deadly symptoms, including hyper- and hypotension, tachycardia, bradycardia and pulmonary oedema. Human envenomation is more frequent with
Externí odkaz:
https://doaj.org/article/abfd3208d54a4d95ab1ed26946d4da67
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 9, p 5200 (2022)
Most neurodegenerative disorders take decades to develop, and their early detection is challenged by confounding non-pathological ageing processes. Therefore, the discovery of genes and molecular pathways in both peripheral and brain tissues that are
Externí odkaz:
https://doaj.org/article/153d1a44211e40f8a4dabe4adec7b2df
Autor:
Samira R. Aili, Axel Touchard, Regan Hayward, Samuel D. Robinson, Sandy S. Pineda, Hadrien Lalagüe, Mrinalini, Irina Vetter, Eivind A. B. Undheim, R. Manjunatha Kini, Pierre Escoubas, Matthew P. Padula, Garry S. A. Myers, Graham M. Nicholson
Publikováno v:
Toxins, Vol 12, Iss 5, p 324 (2020)
A critical hurdle in ant venom proteomic investigations is the lack of databases to comprehensively and specifically identify the sequence and function of venom proteins and peptides. To resolve this, we used venom gland transcriptomics to generate a
Externí odkaz:
https://doaj.org/article/55d7d69d39f74058b7a192f9f196b696
Autor:
Dessislava Mladenova, Guy Barry, Lyndsey M. Konen, Sandy S. Pineda, Boris Guennewig, Lotta Avesson, Raphael Zinn, Nicole Schonrock, Maina Bitar, Nicky Jonkhout, Lauren Crumlish, Dominik C. Kaczorowski, Andrew Gong, Mark Pinese, Gloria R. Franco, Carl R. Walkley, Bryce Vissel, John S. Mattick
Publikováno v:
Frontiers in Neuroscience, Vol 12 (2018)
The amount of regulatory RNA encoded in the genome and the extent of RNA editing by the post-transcriptional deamination of adenosine to inosine (A-I) have increased with developmental complexity and may be an important factor in the cognitive evolut
Externí odkaz:
https://doaj.org/article/035a01122d1e4d05b15faa12ae756e8d
Publikováno v:
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-20 (2021)
Acta Neuropathologica Communications
Acta Neuropathologica Communications
Background Short tandem repeat (STR) expansion disorders are an important cause of human neurological disease. They have an established role in more than 40 different phenotypes including the myotonic dystrophies, Fragile X syndrome, Huntington’s d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae34010aed48b9fc04f14d3dfc705530
https://doaj.org/article/edda3574e96d4cdba97a0cfac1ba0d79
https://doaj.org/article/edda3574e96d4cdba97a0cfac1ba0d79
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 9; Pages: 5200
Most neurodegenerative disorders take decades to develop, and their early detection is challenged by confounding non-pathological ageing processes. Therefore, the discovery of genes and molecular pathways in both peripheral and brain tissues that are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::854a0484367ad1a4a822d6518e0918f4
Autor:
Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, James M. Ferguson, Sandy S. Pineda, Carolin K. Scriba, Michel Tchan, Victor Fung, Karl Ng, Andrea Cortese, Henry Houlden, Carol Dobson-Stone, Lauren Fitzpatrick, Glenda Halliday, Gianina Ravenscroft, Mark R. Davis, Nigel G. Laing, Avi Fellner, Marina Kennerson, Kishore R. Kumar, Ira W. Deveson
Publikováno v:
Science Advances. 8
More than 50 neurological and neuromuscular diseases are caused by short tandem repeat (STR) expansions, with 37 different genes implicated to date. We describe the use of programmable targeted long-read sequencing with Oxford Nanopore’s ReadUntil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18dd6fe8cd2ecbb65a4debd1a62af241
https://doi.org/10.1126/sciadv.abm5386
https://doi.org/10.1126/sciadv.abm5386
Autor:
Yanni K.-Y. Chin, Sebastian Senff, Pierre Escoubas, Mehdi Mobli, Graham M. Nicholson, John S. Mattick, Glenn F. King, Shaodong Guo, Eivind A. B. Undheim, Sandy S. Pineda, Claire Dauly, Volker Herzig, Quentin Kaas
Publikováno v:
Proc Natl Acad Sci U S A
Spiders are one of the most successful venomous animals, with more than 48,000 described species. Most spider venoms are dominated by cysteine-rich peptides with a diverse range of pharmacological activities. Some spider venoms contain thousands of u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1337b6017577ff6a25d792777d4fa63
https://doi.org/10.1073/pnas.1914536117
https://doi.org/10.1073/pnas.1914536117
Autor:
Michel Tchan, Glenda M. Halliday, Henry Houlden, Gianina Ravenscroft, Cortese A, Marina L. Kennerson, Sandy S. Pineda, Igor Stevanovski, Davis Mr, Nigel G. Laing, Kishore R. Kumar, Carol Dobson-Stone, Fitzpatrick L, Avi Fellner, Ira W. Deveson, Carolin K. Scriba, Fung, James Ferguson, Hasindu Gamaarachchi, Karl Ng, Chintalaphani
Short-tandem repeat (STR) expansions are an important class of pathogenic genetic variants. Over forty neurological and neuromuscular diseases are caused by STR expansions, with 37 different genes implicated to date. Here we describe the use of progr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cb0fc90d123ebebde26c978f8ce40946
https://doi.org/10.1101/2021.09.27.21263187
https://doi.org/10.1101/2021.09.27.21263187
