Zobrazeno 1 - 10
of 87
pro vyhledávání: '"Vivien J. Bubb"'
Autor:
Alexander Fröhlich, Abigail L. Pfaff, Ben Middlehurst, Lauren S. Hughes, Vivien J. Bubb, John P. Quinn, Sulev Koks
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract SINE-VNTR-Alu (SVA) retrotransposons are transposable elements which represent a source of genetic variation. We previously demonstrated that the presence/absence of a human-specific SVA, termed SVA_67, correlated with the progression of Par
Externí odkaz:
https://doaj.org/article/d2f476689c424207a54da2ebbb79a360
Autor:
Ashley Hall, Ben Middlehurst, Max A. M. Cadogan, Xylena Reed, Kimberley J. Billingsley, Vivien J. Bubb, John P. Quinn
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract SINE-VNTR-Alu (SVA) retrotransposons represent mobile regulatory elements that have the potential to influence the surrounding genome when they insert into a locus. Evolutionarily recent mobilisation has resulted in loci in the human genome
Externí odkaz:
https://doaj.org/article/df9519328cc6452badeef6cde5500070
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023)
Abstract Long interspersed nuclear element-1 (LINE-1/L1) retrotransposons make up 17% of the human genome. They represent one class of transposable elements with the capacity to both mobilize autonomously and in trans via the mobilization of other el
Externí odkaz:
https://doaj.org/article/0d59d7baa0db4388a6876ea34293d174
Autor:
Lauren S. Hughes, Alexander Fröhlich, Abigail L. Pfaff, Vivien J. Bubb, John P. Quinn, Sulev Kõks
Publikováno v:
Biomolecules, Vol 14, Iss 3, p 358 (2024)
Transposable elements (TEs) are repetitive elements which make up around 45% of the human genome. A class of TEs, known as SINE-VNTR-Alu (SVA), demonstrate the capacity to mobilise throughout the genome, resulting in SVA polymorphisms for their prese
Externí odkaz:
https://doaj.org/article/af72b72ad85e498e883cdb4b796d626d
Autor:
Alexander Fröhlich, Lauren S. Hughes, Ben Middlehurst, Abigail L. Pfaff, Vivien J. Bubb, Sulev Koks, John P. Quinn
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
BackgroundSINE-VNTR-Alu (SVA) retrotransposons are hominid-specific elements which have been shown to play important roles in processes such as chromatin structure remodelling and regulation of gene expression demonstrating that these repetitive elem
Externí odkaz:
https://doaj.org/article/38c1abd247cb4339b4a62507e653761a
Publikováno v:
Molecular Brain, Vol 15, Iss 1, Pp 1-13 (2022)
Abstract The activation and dysregulation of retrotransposons has been identified in the CNS of individuals with the fatal neurodegenerative disorder Amyotrophic lateral sclerosis (ALS). This includes elements from multiple different families and sub
Externí odkaz:
https://doaj.org/article/505639f94bb9454292343e853c63cee0
Autor:
Jack N. G. Marshall, Alexander Fröhlich, Li Li, Abigail L. Pfaff, Ben Middlehurst, Thomas P. Spargo, Alfredo Iacoangeli, Bing Lang, Ammar Al-Chalabi, Sulev Koks, Vivien J. Bubb, John P. Quinn
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
We describe the characterisation of a variable number tandem repeat (VNTR) domain within intron 1 of the amyotrophic lateral sclerosis (ALS) risk gene CFAP410 (Cilia and flagella associated protein 410) (previously known as C21orf2), providing insigh
Externí odkaz:
https://doaj.org/article/e3eb151ad11e418f88d86ee79eeb04b5
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 14, p 11548 (2023)
The hominid-specific retrotransposon SINE-VNTR-Alu (SVA) is a composite element that has contributed to the genetic variation between individuals and influenced genomic structure and function. SVAs are involved in modulating gene expression and splic
Externí odkaz:
https://doaj.org/article/5f060bde494946149479fe06f84f8580
Publikováno v:
npj Parkinson's Disease, Vol 7, Iss 1, Pp 1-9 (2021)
Abstract The development of Parkinson’s disease (PD) involves a complex interaction of genetic and environmental factors. Genome-wide association studies using extensive single nucleotide polymorphism datasets have identified many loci involved in
Externí odkaz:
https://doaj.org/article/78795e36eac14be780ff37628f4d84cb
Autor:
Abigail L. Savage, Ana Illera Lopez, Alfredo Iacoangeli, Vivien J. Bubb, Bradley Smith, Claire Troakes, Nada Alahmady, Sulev Koks, Gerald G. Schumann, Ammar Al-Chalabi, John P. Quinn
Publikováno v:
Molecular Brain, Vol 13, Iss 1, Pp 1-12 (2020)
Abstract Long interspersed element-1 (LINE-1/L1) is the only autonomous transposable element in the human genome that currently mobilises in both germline and somatic tissues. Recent studies have identified correlations between altered retrotransposo
Externí odkaz:
https://doaj.org/article/61332205f54d4ad88aadf6f392daf67f