Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Kristian Brion"'
Autor:
Tatiane Yanes, Anna Sullivan, Pasquale Barbaro, Kristian Brion, Georgina Hollway, Jane Peake, Peter McNaughton
Publikováno v:
European Journal of Human Genetics.
Molecular diagnosis of paediatric inborn errors of immunity (IEI) influences management decisions and alters clinical outcomes, through early use of targeted and curative therapies. The increasing demand for genetic services has resulted in growing w
Autor:
Lata Vadlamudi, Carmen Maree Bennett, Melanie Tom, Ghusoon Abdulrasool, Kristian Brion, Ben Lundie, Hnin Aung, Chiyan Lau, Jonathan Rodgers, Kate Riney, Louisa Gordon
Publikováno v:
Journal of Clinical Medicine; Volume 11; Issue 14; Pages: 4238
Background. The genomic era has led to enormous progress in clinical care and a multi-disciplinary team (MDT) approach is imperative for integration of genomics into epilepsy patient care. Methods. The MDT approach involved patient selection, genomic
Autor:
Emma Tudini, James Andrews, David M. Lawrence, Sarah L. King-Smith, Naomi Baker, Leanne Baxter, John Beilby, Bruce Bennetts, Victoria Beshay, Michael Black, Tiffany F. Boughtwood, Kristian Brion, Pak Leng Cheong, Michael Christie, John Christodoulou, Belinda Chong, Kathy Cox, Mark R. Davis, Lucas Dejong, Marcel E. Dinger, Kenneth D. Doig, Evelyn Douglas, Andrew Dubowsky, Melissa Ellul, Andrew Fellowes, Katrina Fisk, Cristina Fortuno, Kathryn Friend, Renee L. Gallagher, Song Gao, Emma Hackett, Johanna Hadler, Michael Hipwell, Gladys Ho, Georgina Hollway, Amanda J. Hooper, Karin S. Kassahn, Rahul Krishnaraj, Chiyan Lau, Huong Le, Huei San Leong, Ben Lundie, Sebastian Lunke, Anthony Marty, Mary McPhillips, Lan T. Nguyen, Katia Nones, Kristen Palmer, John V. Pearson, Michael C.J. Quinn, Lesley H. Rawlings, Simon Sadedin, Louisa Sanchez, Andreas W. Schreiber, Emanouil Sigalas, Aygul Simsek, Julien Soubrier, Zornitza Stark, Bryony A. Thompson, James U, Cassandra G. Vakulin, Amanda V. Wells, Cheryl A. Wise, Rick Woods, Andrew Ziolkowski, Marie-Jo Brion, Hamish S. Scott, Natalie P. Thorne, Amanda B. Spurdle, Lauren Akesson, Richard Allcock, Katie Ashton, Damon A. Bell, Anna Brown, Michael Buckley, John R. Burnett, Linda Burrows, Alicia Byrne, Eva Chan, Corrina Cliffe, Roderick Clifton-Bligh, Susan Dooley, Miriam Fanjul Fernandez, Elizabeth Farnsworth, Thuong Ha, Denae Henry, Duncan Holds, Katherine Holman, Matilda Jackson, Sinlay Kang, Catherine Luxford, Sam McManus, Rachael Mehrtens, Cliff Meldrum, David Mossman, Sarah-Jane Pantaleo, Dean Phelan, Electra Pontikinas, Anja Ravine, Tony Roscioli, Rodney Scott, Keryn Simons, Oliver Vanwageningen
Publikováno v:
Am J Hum Genet
Sharing genomic variant interpretations across laboratories promotes consistency in variant assertions. A landscape analysis of Australian clinical genetic-testing laboratories in 2017 identified that, despite the national-accreditation-body recommen
Publikováno v:
Practical Neurology. 19:360-363
A young woman with a history of previously undiagnosed episodic neurological deterioration since early childhood associated with viral illnesses developed fulminant encephalitis. Standard investigations gave no diagnosis. Next-generation sequencing i
Publikováno v:
Practical neurology. 19(4)
A young woman with a history of previously undiagnosed episodic neurological deterioration since early childhood associated with viral illnesses developed fulminant encephalitis. Standard investigations gave no diagnosis. Next-generation sequencing i
Autor:
Tim Pyragius, Janina Pacyna, Kristian Brion, Sharon Chin, Maria Fuller, Samantha Stark, Melissa Gurner, Julia Dobbins, Janice M. Fletcher
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 89:A7.1-A7
IntroductionFabry disease is an X-linked disorder of glycosphingolipid metabolism arising from a deficiency of the enzyme, α-galactosidase A (AGA). In the absence of a family history, biochemical diagnosis is conferred by reduced activity in dried f
Autor:
Janice M. Fletcher, Samantha Stark, Sharon Chin, Tim Pyragius, Janina Pacyna, Kristian Brion, Melissa Gurner, Julia Dobbins
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 89:A44.2-A44
IntroductionPompe disease is classified by age of onset and presentation. Late-onset Pompe disease (LOPD) generally presents with progressive limb-girdle and respiratory muscle weakness. Diagnosis is confirmed following dried blood spot (DBS) enzyme
Autor:
David P. Sester, Tara L. Roberts, Angela Trieu, Matthew J. Sweet, David A. Hume, Katryn J. Stacey, Helen S. Goodridge, Jasmyn A. Dunn, Kristian Brion
Publikováno v:
The Journal of Immunology. 177:4473-4480
Bacterial CpG-containing (CpG) DNA promotes survival of murine macrophages and triggers production of proinflammatory mediators. The CpG DNA-induced inflammatory response is mediated via TLR9, whereas a recent study reported that activation of the Ak
Autor:
Timothy Ravasi, Hnin Thanda Aung, Wendy J. van Zuylen, Kate Schroder, Matthew J. Sweet, Stewart R. Himes, Yoshihide Hayashizaki, David A. Hume, Kristian Brion, Angela Trieu, Harukazu Suzuki
Publikováno v:
The FASEB Journal. 20:1315-1327
Bacterial LPS triggers dramatic changes in gene expression in macrophages. We show here that LPS regulated several members of the histone deacetylase (HDAC) family at the mRNA level in murine bone marrow-derived macrophages (BMM). LPS transiently rep
Autor:
Katryn J. Stacey, David P. Sester, Matthew J. Sweet, Christine A. Wells, Yoshihide Hayashizaki, Jodie A. Robinson, Kristian Brion, Angela Trieu, Harukazu Suzuki, Kate Schroder, Timothy Ravasi, Rebecca C. McDonald, Vera M. Ripoll, David A. Hume
Publikováno v:
Immunobiology. 210:97-107
We previously reported that bacterial products such as LPS and CpG DNA down-modulated cell surface levels of the Colony Stimulating Factor (CSF)-1 receptor (CSF-1R) on primary murine macrophages in an all-or-nothing manner. Here we show that the abil