7 Result(s)

Article

Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

Antony Kaspi, Michael S. Hildebrand, Victoria E. Jackson… in Molecular Psychiatry (2023)

Article

Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

Childhood apraxia of speech (CAS), the prototypic severe childhood speech disorder, is characterized by motor programming and planning deficits. Genetic factors make substantive contributions to CAS aetiology,...

Antony Kaspi, Michael S. Hildebrand, Victoria E. Jackson… in Molecular Psychiatry (2023)

Article

mitch: multi-contrast pathway enrichment for multi-omics and single-cell profiling data

Inference of biological pathway activity via gene set enrichment analysis is frequently used in the interpretation of clinical and other omics data. With the proliferation of new omics profiling approaches and...

Antony Kaspi, Mark Ziemann in BMC Genomics (2020)

Article

Transcription factors Tp73, Cebpd, Pax6, and Spi1 rather than DNA methylation regulate chronic transcriptomics changes after experimental traumatic brain injury

Traumatic brain injury (TBI) induces a wide variety of cellular and molecular changes that can continue for days to weeks to months, leading to functional impairments. Currently, there are no pharmacotherapies...

Anssi Lipponen, Assam El-Osta, Antony Kaspi… in Acta Neuropathologica Communications (2018)

Article

Etiology matters – Genomic DNA Methylation Patterns in Three Rat Models of Acquired Epilepsy

This study tested the hypothesis that acquired epileptogenesis is accompanied by DNA methylation changes independent of etiology. We investigated DNA methylation and gene expression in the hippocampal CA3/dent...

Konrad J. Dębski, Asla Pitkanen, Noora Puhakka, Anna M. Bot… in Scientific Reports (2016)

Article

Deep sequencing reveals increased DNA methylation in chronic rat epilepsy

Epilepsy is a frequent neurological disorder, although onset and progression of seizures remain difficult to predict in affected patients, irrespective of their epileptogenic condition. Previous studies in ani...

Katja Kobow, Antony Kaspi, K. N. Harikrishnan, Katharina Kiese… in Acta Neuropathologica (2013)

Article

Combining target enrichment with barcode multiplexing for high throughput SNP discovery

The primary goal of genetic linkage analysis is to identify genes affecting a phenotypic trait. After localisation of the linkage region, efficient genetic dissection of the disease linked loci requires that f...

Nik Cummings, Rob King, Andre Rickers, Antony Kaspi, Sebastian Lunke… in BMC Genomics (2010)