A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome

Autor: Amber Geerts‐Haages, Stijn N. V. Bossuyt, Inge denBesten, Hennie Bruggenwirth, Ineke van derBurgt, Helger G. Yntema, A. Mattijs Punt, Alice Brooks, Ype Elgersma, Ben Distel, Marlies Valstar

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)

Abstract Background Loss of functional UBE3A, an E3 protein ubiquitin ligase, causes Angelman syndrome (AS), a neurodevelopmental disorder characterized by severe developmental delay, speech impairment, epilepsy, movement or balance disorder, and a c

Externí odkaz: https://doaj.org/article/951f87a1100f45729e7e69dffa69cd7c

Human mutations in integrator complex subunits link transcriptome integrity to brain development.

Autor: Renske Oegema, David Baillat, Rachel Schot, Leontine M van Unen, Alice Brooks, Sima Kheradmand Kia, A Jeannette M Hoogeboom, Zheng Xia, Wei Li, Matteo Cesaroni, Maarten H Lequin, Marjon van Slegtenhorst, William B Dobyns, Irenaeus F M de Coo, Frans W Verheijen, Andreas Kremer, Peter J van der Spek, Daphne Heijsman, Eric J Wagner, Maarten Fornerod, Grazia M S Mancini

Publikováno v: PLoS Genetics, Vol 13, Iss 5, p e1006809 (2017)

Integrator is an RNA polymerase II (RNAPII)-associated complex that was recently identified to have a broad role in both RNA processing and transcription regulation. Importantly, its role in human development and disease is so far largely unexplored.

Externí odkaz: https://doaj.org/article/af63fe74d10344f78122a961db9962c3

Biallelic PAX5 mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder

Autor: Fabian M.P. Kaiser, Sarah Gruenbacher, Maria Roa Oyaga, Enzo Nio, Markus Jaritz, Qiong Sun, Wietske van der Zwaag, Emanuel Kreidl, Lydia M. Zopf, Virgil A.S.H. Dalm, Johan Pel, Carolin Gaiser, Rick van der Vliet, Lucas Wahl, André Rietman, Louisa Hill, Ines Leca, Gertjan Driessen, Charlie Laffeber, Alice Brooks, Peter D. Katsikis, Joyce H.G. Lebbink, Kikuë Tachibana, Mirjam van der Burg, Chris I. De Zeeuw, Aleksandra Badura, Meinrad Busslinger

Publikováno v: Journal of Experimental Medicine, 219(9). ROCKEFELLER UNIV PRESS
Journal of Experimental Medicine, 219(9). Rockefeller University Press
Journal of Experimental Medicine, 219(9):e20220498. Rockefeller University Press

The genetic causes of primary antibody deficiencies and autism spectrum disorder (ASD) are largely unknown. Here, we report a patient with hypogammaglobulinemia and ASD who carries biallelic mutations in the transcription factor PAX5. A patient-speci

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0c45534b870443c148751c0cebb9e1b
https://doi.org/10.1084/jem.20220498

The Library and the Social Studies

Autor: McGuire, Alice Brooks

Publikováno v: Theory Into Practice, 1967 Feb 01. 6(1), 13-17.

Externí odkaz: https://www.jstor.org/stable/1475614

The impact of volunteering on the volunteer: findings from a peer support programme for family carers of people with dementia

Autor: Fiona Poland, Theresa Sullivan, Georgina Charlesworth, Shaheen Ahmad, James B. Sinclair, Alice Brooks

With an ageing population, there are increasing numbers of experienced family carers (FCs) who could provide peer support to newer carers in a similar care situation. The aims of this paper are to: (i) use a cross-sectional study design to compare ch

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2b2e800f910ef02b92ec4f27f05b392
https://ueaeprints.uea.ac.uk/id/eprint/59037/