Zobrazeno 1 - 10
of 84
pro vyhledávání: '"Trevor HUMBY"'
Publikováno v:
PLoS ONE, Vol 19, Iss 8, p e0298717 (2024)
Loss of function (LoF) mutations affecting the histone methyl transferase SETD1A are implicated in the aetiology of a range of neurodevelopmental disorders including schizophrenia. We examined indices of development and adult behaviour in a mouse mod
Externí odkaz:
https://doaj.org/article/eb3b3a06bced421e9ae528b61631e47c
Publikováno v:
Translational Psychiatry, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract Prader-Willi Syndrome (PWS) is a neurodevelopmental disorder caused by mutations affecting paternal chromosome 15q11-q13, and characterized by hypotonia, hyperphagia, impaired cognition, and behavioural problems. Psychotic illness is a chall
Externí odkaz:
https://doaj.org/article/bfe9406a565643728a0bb57272fc6102
Autor:
Ana I. Silva, Josephine E. Haddon, Yasir Ahmed Syed, Simon Trent, Tzu-Ching E. Lin, Yateen Patel, Jenny Carter, Niels Haan, Robert C. Honey, Trevor Humby, Yaniv Assaf, Michael J. Owen, David E. J. Linden, Jeremy Hall, Lawrence S. Wilkinson
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
People with a genetic deletion of the 15q11.2 locus are at increased risk for psychiatric disorders and white matter disturbances, but the gene(s) responsible are unclear. Here, the authors show that low dosage of CYFIP1, present in the human 15q11.2
Externí odkaz:
https://doaj.org/article/411296870f6b40bf8e1be35dea45f741
Publikováno v:
PLoS ONE, Vol 11, Iss 10, p e0164417 (2016)
BACKGROUND:X-linked ichthyosis (XLI) is a rare dermatological condition arising from deficiency for the enzyme steroid sulfatase (STS). Preliminary evidence in boys with XLI, and animal model studies, suggests that individuals lacking STS are at incr
Externí odkaz:
https://doaj.org/article/5b62150e60f2402bb97842e74c3973f2
Publikováno v:
PLoS ONE, Vol 8, Iss 8, p e73699 (2013)
Whilst gonadal hormones can substantially influence sexual differentiation of the brain, recent findings have suggested that sex-linked genes may also directly influence neurodevelopment. Here we used the well-established murine 'four core genotype'
Externí odkaz:
https://doaj.org/article/5ecd3c7a8b3a431386969c2b9b0684b1
Autor:
Georgina Wren, Emily Baker, Jack Underwood, Trevor Humby, Andrew Thompson, George Kirov, Valentina Escott-Price, William Davies
Publikováno v:
Journal of medical genetics.
BackgroundGenetic deletions at Xp22.31 are associated with the skin condition X linked ichthyosis (XLI), and with a substantially increased risk of atrial fibrillation/flutter (AF), in males. AF is associated with elevated thrombosis, heart failure,
Summary Background High rates of adverse mood/neurodevelopmental traits are seen in multiple dermatological conditions, and can significantly affect patient quality of life. Understanding the sex-specific nature, magnitude, impact and basis of such t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22be07c933659119e5ee0906a9d87aaf
Autor:
Trevor Humby, Emma S J Robinson, Lawrence Stephen Wilkinson, Kerrie L. Thomas, Jeremy Hall, Jack R. Mellor, Sophie Waldron, Dominic M. Dwyer, Rachel Pass, Simonas Griesius
Publikováno v:
Waldron, S, Pass, R, Griesius, S, Mellor, J R, Robinson, E S J, Thomas, K L, Wilkinson, L S, Humby, T, Hall, J & Dwyer, D M 2022, ' Behavioural and molecular characterisation of the Dlg2 haploinsufficiency rat model of genetic risk for psychiatric disorder ', Genes, Brain and Behavior, vol. 21, no. 4, e12797 . https://doi.org/10.1111/gbb.12797
Genetic studies implicate disruption to the DLG2 gene in copy number variants as increasing risk for schizophrenia, autism spectrum disorders and intellectual disability. To investigate psychiatric endophenotypes associated with DLG2 haploinsufficien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1c4be05fa9c002591054c7c52d8cbda
Autor:
Sophie A. Brain, Jack Reddaway, Trevor Humby, Timothy R. Hughes, Margarita Toneva, William P. Gray, Andreea-Ingrid Baloc, Jeremy Hall, B. Paul Morgan, Lawrence Stephen Wilkinson, Anna L. Moon, Laura J. Westacott, Niels Haan, Michael J. Owen, Emma-Louise Bush
Complement is a key component of the immune system with roles in inflammation and host-defence. Here we reveal novel functions of complement pathways impacting on emotional reactivity of potential relevance to the emerging links between complement an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c451320364300f1c3f9bae6b9f578a5
Autor:
Trevor Humby, Rachel Pass, Kerrie L. Thomas, Jeremy Hall, Lawrence Stephen Wilkinson, Niels Haan
Publikováno v:
Genes, brain, and behavior. 21(4)
Mutations affectingDLG2are emerging as a genetic risk factor associated with neurodevelopmental psychiatric disorders including schizophrenia, autism spectrum disorder and bipolar disorder. Discs large homolog 2 (DLG2) is a member of the membrane-ass