Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Bruce Hayward"'
Autor:
Bruce Hayward, Daman Kumari, Saikat Santra, Clara D. M. van Karnebeek, André B. P. van Kuilenburg, Karen Usdin
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
Abstract The Repeat Expansion Diseases (REDs) arise from the expansion of a disease-specific short tandem repeat (STR). Different REDs differ with respect to the repeat involved, the cells that are most expansion prone and the extent of expansion. Fu
Externí odkaz:
https://doaj.org/article/d5440151ce024f64b7170c28c47217da
Autor:
Ramkumar Aishworiya, Ye Hyun Hwang, Ellery Santos, Bruce Hayward, Karen Usdin, Blythe Durbin-Johnson, Randi Hagerman, Flora Tassone
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-10 (2023)
Abstract Carriers of a premutation allele (PM) in the FMR1 gene are at risk of developing a number of Fragile X premutation asssociated disorders (FXPAC), including Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), Fragile X-associated Primary Ova
Externí odkaz:
https://doaj.org/article/ff6e078df0a149d2940058c1155ed4ed
Autor:
Xiaonan Zhao, Inbal Gazy, Bruce Hayward, Elizabeth Pintado, Ye Hyun Hwang, Flora Tassone, Karen Usdin
Publikováno v:
Brain Sciences, Vol 9, Iss 3, p 52 (2019)
The fragile X-related disorders (FXDs) are a group of clinical conditions that result primarily from an unusual mutation, the expansion of a CGG-repeat tract in exon 1 of the FMR1 gene. Mouse models are proving useful for understanding many aspects o
Externí odkaz:
https://doaj.org/article/4e2120e0e7cc49658afa71f4728a3b22
Autor:
Christine P Diggle, Daniel J Moore, Girish Mali, Petra zur Lage, Aouatef Ait-Lounis, Miriam Schmidts, Amelia Shoemark, Amaya Garcia Munoz, Mihail R Halachev, Philippe Gautier, Patricia L Yeyati, David T Bonthron, Ian M Carr, Bruce Hayward, Alexander F Markham, Jilly E Hope, Alex von Kriegsheim, Hannah M Mitchison, Ian J Jackson, Bénédicte Durand, Walter Reith, Eamonn Sheridan, Andrew P Jarman, Pleasantine Mill
Publikováno v:
PLoS Genetics, Vol 10, Iss 9, p e1004577 (2014)
Cilia are highly conserved microtubule-based structures that perform a variety of sensory and motility functions during development and adult homeostasis. In humans, defects specifically affecting motile cilia lead to chronic airway infections, infer
Externí odkaz:
https://doaj.org/article/221a47d3cc01479e8e83de40453586ea
Autor:
Sarah Fazal, Matt C Danzi, André B P van Kuilenburg, Selina Reich, Andreas Traschütz, Benjamin Bender, René Leen, Camilo Toro, Karen Usdin, Bruce Hayward, David R Adams, Clara D M van Karnebeek, Carlos R Ferreira, Precilla D’Sousa, Undiagnosed Diseases Network, Mustafa Tekin, Stephan Züchner, Matthis Synofzik
Publikováno v:
Human molecular genetics 32(1), 46-54 (2023). doi:10.1093/hmg/ddac173
Human molecular genetics, 32(1), 46-54. Oxford University Press
Human molecular genetics, 32(1), 46-54. Oxford University Press
Glutaminase deficiency has recently been associated with ataxia and developmental delay due to repeat expansions in the 5′UTR of the glutaminase (GLS) gene. Patients with the described GLS repeat expansion may indeed remain undiagnosed due to the r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de019e5e3fcd9c31a84a5673f0719a6c
Autor:
Ed Garrett, Roland Gehrels, Bruce Hayward, Rewi Newnham, Maria Gehrels, Craig Morey, Sonke Dangendorf
We present new proxy-based sea-level reconstructions for southern New Zealand spanning the last millennium. These palaeo sea-level records usefully complement sparse Southern Hemisphere proxy and tide-gauge sea-level datasets and, in combination with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::64b56205c1bfdfcf824899f4c36934f2
https://doi.org/10.5194/egusphere-egu22-5675
https://doi.org/10.5194/egusphere-egu22-5675
Autor:
Elaine Baguley, Graham A. Hitman, Sinisa Savic, Bruce Hayward, Mark D. Turner, Sarah M Churchman, Paul Emery, Lydia R. Coulthard, Leigh D Church, Hock Chye Gooi, Philip Wood, Rebeccah J. Mathews, Micheal F. McDermott, Belinda Nedjai
Publikováno v:
Annals of the Rheumatic Diseases. 67:1589-1595
Objective: To characterise and investigate the functional consequences of a novel TNFRSF1A splice site mutation causing tumour necrosis factor receptor associated periodic syndrome (TRAPS) in a 16-year-old male patient and his mother. Methods: Mutati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de64bb7ddafd10f770885293cba6919f
https://doi.org/10.1136/ard.2007.078667
https://doi.org/10.1136/ard.2007.078667
Publikováno v:
The Journal of Wildlife Management. 61:123
Livestock in arid regions often concentrate their grazing in riparian areas, and this activity can have strong effects on native vegetation and wildlife. Small mammals at a desert wetland (cienaga) in southwestern New Mexico were more abundant on 2 1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::70d1f9262f1af0f1af5ae556b907965d
https://doi.org/10.2307/3802421
https://doi.org/10.2307/3802421