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Limited By:	Author = Ennis, Sean;

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A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder (2015)

Casey, Jillian; Goggin, Patricia; McDaid, Jennifer; Ennis, Sean; Lynch, Sally; et al.

Mark

A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder. (2015)

Casey, Jillian P; Goggin, Patricia; McDaid, Jennifer; White, Martin; Ennis, Sean; Betts...

Mark

A genome-wide scan for common alleles affecting risk for autism (2013)

Anney, Richard; Klei, Lambertus; Pinto, Dalila; Regan, Regina; Casey, Jillian; Segurado...

Mark

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder (2014)

Casey, Jillian; Magalhaes, Tiago; Conroy, Judith M.; Regan, Regina; Shah, Naisha; Shiel...

Mark

Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria. (2014)

Casey, Jillian; McGettigan, Paul; Brosnahan, Donal; Curtis, Emma; Treacy, Eileen; Ennis...

Mark

Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder (2018)

Allen, Nicholas M.; Conroy, Judith; Deonna, Thierry; McCreary, Dara; McGettigan, Paul; ...

Mark

Common polygenic variation in coeliac disease and confirmation of znf335 and nifa as disease susceptibility loci (2018)

Coleman, Ciara; Quinn, Emma M; Ryan, Anthony W; Conroy, Judith; Trimble, Valerie; Mahmu...

Common polygenic variation in coeliac disease and confirmation of znf335 and nifa as disease susceptibility loci (2018)

Coleman, Ciara; Quinn, Emma M; Ryan, Anthony W; Conroy, Judith; Trimble, Valerie; Mahmud, Nasir; Kennedy, Nicholas; Corvin, Aiden P; Morris, Derek W.; Donohoe, Gary; O'Morain, Colm; MacMathuna, Padraic; Byrnes, Valerie; Kiat, Clifford; Trynka, Gosia; Wijmenga, Cisca; Kelleher, Dermot; Ennis, Sean; Anney, Richard JL; McManus, Ross

Abstract:

Coeliac disease (CD) is a chronic immune-mediated disease triggered by the ingestion of gluten. It has an estimated prevalence of approximately 1% in European populations. Specific HLA-DQA1 and HLA-DQB1 alleles are established coeliac susceptibility genes and are required for the presentation of gliadin to the immune system resulting in damage to the intestinal mucosa. In the largest association analysis of CD to date, 39 non-HLA risk loci were identified, 13 of which were new, in a sample of 12 014 individuals with CD and 12 228 controls using the Immunochip genotyping platform. Including the HLA, this brings the total number of known CD loci to 40. We have replicated this study in an independent Irish CD case-control population of 425 CD and 453 controls using the Immunochip platform. Using a binomial sign test, we show that the direction of the effects of previously described risk alleles were highly correlated with those reported in the Irish population, (P= 2.2 x 10(-16)). Usin...

http://hdl.handle.net/10379/10836

Mark

Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders (2020)

Kenny, Elaine M.; Cormican, Paul; Furlong, Sarah; Heron, Eleisa; Kenny, Graham; Fahey, ...

Mark

First implication of STRA6 mutations in isolated anophthalmia, microphthalmia and coloboma: a new dimension to the STRA6 phenotype (2014)

Casey, Jillian; Kawaguchi, Riki; Morrissey, Maria; McGettigan, Paul A.; Nielsen, Jens E...

Mark

Functional impact of global rare copy number variation in autism spectrum disorders (2013)

Pinto, Dalila; Pagnamenta, Alistair T.; Klei, Lambertus; Regan, Regina; Conroy, Judith;...

Mark

Genomic insights into the population structure and history of the Irish Travellers. (2017)

Gilbert, Edmund; Carmi, Shai; Ennis, Sean; Wilson, James F; Cavalleri, Gianpiero L

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Identification of a mutation in LARS as a novel cause of infantile hepatopathy (2014)

Casey, Jillian; McGettigan, Paul A.; Lynam-Lennon, Niamh; Regan, Regina; Conroy, Judith...

Mark

Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair (2014)

Casey, Jillian; Nobbs, Michael; McGettigan, Paul A.; Ennis, Sean; et al.

Mark

Tdp2 protects transcription from abortive topoisomerase activity and is required for normal neural function (2018)

Gómez-Herreros, Fernando; Schuurs-Hoeijmakers, Janneke H M; McCormack, Mark; Greally, M...

Tdp2 protects transcription from abortive topoisomerase activity and is required for normal neural function (2018)

Gómez-Herreros, Fernando; Schuurs-Hoeijmakers, Janneke H M; McCormack, Mark; Greally, Marie T; Rulten, Stuart; Romero-Granados, Rocío; Counihan, Timothy J; Chaila, Elijah; Conroy, Judith; Ennis, Sean; Delanty, Norman; Cortés-Ledesma, Felipe; de Brouwer, Arjan P M; Cavalleri, Gianpiero L; El-Khamisy, Sherif F; de Vries, Bert B A; Caldecott, Keith W

Abstract:

Topoisomerase II (TOP2) removes torsional stress from DNA and facilitates gene transcription by introducing transient DNA double-strand breaks (DSBs). Such DSBs are normally rejoined by TOP2 but on occasion can become abortive and remain unsealed. Here we identify homozygous mutations in the TDP2 gene encoding tyrosyl DNA phosphodiesterase-2, an enzyme that repairs 'abortive' TOP2-induced DSBs, in individuals with intellectual disability, seizures and ataxia. We show that cells from affected individuals are hypersensitive to TOP2-induced DSBs and that loss of TDP2 inhibits TOP2-dependent gene transcription in cultured human cells and in mouse post-mitotic neurons following abortive TOP2 activity. Notably, TDP2 is also required for normal levels of many gene transcripts in developing mouse brain, including numerous gene transcripts associated with neurological function and/or disease, and for normal interneuron density in mouse cerebellum. Collectively, these data implicate...

http://hdl.handle.net/10379/11689