Evidence of a Recessively Inherited CCN3 Mutation as a Rare Cause of Early-Onset Parkinsonism

Autor: Steven R. Bentley, Suliman Khan, Marco Öchsner, Susitha Premarathne, Zain Aslam, Javed Y. Fowdar, Jamila Iqbal, Muhammad Naeem, Christopher A. Love, Stephen A. Wood, George D. Mellick, Alex M. Sykes

Publikováno v: Frontiers in Neurology, Vol 11 (2020)

The study of consanguineous families has provided novel insights into genetic causes of monogenic parkinsonism. Here, we present a family from the rural Khyber Pakhtunkhwa province, Pakistan, where three siblings were diagnosed with early-onset parki

Externí odkaz: https://doaj.org/article/5a51418bc4344b788a604a11a65095cc

Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders

Autor: Simon J.G. Lewis, Jan H. Veldink, Iwona Kłoszewska, Jonathan Mill, Nicola J. Armstrong, Eilis Hannon, Allan F. McRae, Simon M. Laws, Pamela J. Shaw, Katie Lunnon, Pamela A. McCombe, Ammar Al-Chalabi, Anjali K. Henders, Marta F. Nabais, Alfredo Iacoangeli, Glenda M. Halliday, Susan Mathers, John B.J. Kwok, Ashley R. Jones, Anna J. Stevenson, Ian B. Hickie, Tian Lin, Cristopher E. Shaw, Ian P. Blair, Hilkka Soininen, Wouter van Rheenen, Karen E. Morrison, Jacob Gratten, Toni L. Pitcher, Ian J. Deary, Janou A. Y. Roubroeks, Shyuan T. Ngo, Tim J. Anderson, Sarah Furlong, Merrilee Needham, Peter M. Visscher, Peter A. Silburn, Ramona A. J. Zwamborn, Karen A. Mather, Patrizia Mecocci, Naomi R. Wray, Roger Pamphlett, Paul J. Hop, Garth A. Nicholson, John F. Pearson, Jian Yang, Simon Lovestone, Kelly L. Williams, Costanza L. Vallerga, Magda Tsolaki, Ehsan Pishva, Robert D. Henderson, Futao Zhang, Grant W. Montgomery, Bruno Vellas, Robert F. Hillary, Steven R. Bentley, John C. Dalrymple-Alford, Frederik J. Steyn, Riccardo E. Marioni, Dominic B. Rowe, Leanne Wallace, Leonard H. van den Berg, Aleksey Shatunov, Sarah E. Harris, Perminder S. Sachdev, Fleur C. Garton, George D. Mellick, Javed Fowder, Martin A. Kennedy

Publikováno v: Nabais, M F, Laws, S M, Lin, T, Vallerga, C L, Armstrong, N J, Blair, I P, Kwok, J B, Mather, K A, Mellick, G D, Sachdev, P S, Wallace, L, Henders, A K, Zwamborn, R A J, Hop, P J, Lunnon, K, Pishva, E, Roubroeks, J A Y, Soininen, H, Tsolaki, M, Mecocci, P, Lovestone, S, Kłoszewska, I, Vellas, B, Furlong, S, Garton, F C, Henderson, R D, Mathers, S, Mccombe, P A, Needham, M, Ngo, S T, Nicholson, G, Pamphlett, R, Rowe, D B, Steyn, F J, Williams, K L, Anderson, T J, Bentley, S R, Dalrymple-alford, J, Fowder, J, Gratten, J, Halliday, G, Hickie, I B, Kennedy, M, Lewis, S J G, Montgomery, G W, Pearson, J, Pitcher, T L, Silburn, P, Zhang, F, Visscher, P M, Yang, J, Stevenson, A J, Hillary, R F, Marioni, R E, Harris, S E, Deary, I J, Jones, A R, Shatunov, A, Iacoangeli, A, Van Rheenen, W, Van Den Berg, L H, Shaw, P J, Shaw, C E, Morrison, K E, Al-chalabi, A, Veldink, J H, Hannon, E, Mill, J, Wray, N R & Mcrae, A F 2021, ' Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders ', Genome Biology, vol. 22, no. 1 . https://doi.org/10.1186/s13059-021-02275-5
Genome Biology, Vol 22, Iss 1, Pp 1-30 (2021)
Genome Biology
Genome Biology, 22(1):90. BioMed Central Ltd.
Australian Imaging Biomarkers and Lifestyle study & Alzheimer’s Disease Neuroimaging Initiative 2021, ' Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders ', Genome Biology, vol. 22, 90 . https://doi.org/10.1186/s13059-021-02275-5

Background People with neurodegenerative disorders show diverse clinical syndromes, genetic heterogeneity, and distinct brain pathological changes, but studies report overlap between these features. DNA methylation (DNAm) provides a way to explore th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::222e9540511330ced2d46144bc1f420e
https://zenodo.org/record/4643029

Draft Genome Sequence of

Autor: Cameron J, Lee, Mitchell H, Wright, Steven R, Bentley, Anthony C, Greene

Publikováno v: Microbiology Resource Announcements

Halomonas sp. strain KAO is an aerobic, Mn(II)-oxidizing, halophilic bacterium. The draft genome of the isolate contains 47 contigs encompassing 3.7 Mb and a G+C content of 64.22%. This sequence will provide essential information for future studies o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ba92fa1d615dd9cacc91a71ab7a51aff
https://pubmed.ncbi.nlm.nih.gov/33632853

Draft Genome Sequence of Halomonas sp. Strain ML-15, a Haloalkaliphilic, Polycyclic Aromatic Hydrocarbon-Degrading Bacterium

Autor: Steven R. Bentley, Mitchell Henry Wright, Anthony Carlson Greene

Publikováno v: Microbiology Resource Announcements. 9

Halomonas sp. strain ML-15 is an aerobic, haloalkaliphilic bacterium capable of degrading polycyclic aromatic hydrocarbons (PAHs). The draft genome sequence of the isolate contains 19 contigs encompassing 4.8 Mb and a G+C content of 65.38%. This sequ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6afc28fce3e1fa8a28794a5610e2b687
https://doi.org/10.1128/mra.01175-20

Nursing students' perceptions of clinical relevance and engagement with bioscience education: A cross-sectional study of undergraduate and postgraduate nursing students

Autor: Christopher J. Gordon, Elizabeth A. Cayanan, Amanda Connors, Michael Todorovic, Oliver Dupen, Matthew J. Barton, Amy N.B. Johnston, Elicia Kunst, Steven R. Bentley, Judy Craft

Publikováno v: Nurse education today. 99

Background Bioscience in nursing education covers a broad range of disciplinary areas (anatomy, physiology, pathophysiology and pharmacology) and underpins clinical assessment and critical thinking in nursing practice. This is imperative for patient

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69d4cb6a3200ac79fea3c2e171d801b8
https://pubmed.ncbi.nlm.nih.gov/33571929