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10 results on '"Siu, Victoria"'

1. Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders (Genetics in Medicine, (2021), 23, 6, (1065-1074), 10.1038/s41436-020-01096-4)

Author

Sadikovic, Bekim, Levy, Michael A., Kerkhof, Jennifer, Aref-Eshghi, Erfan, Schenkel, Laila, Stuart, Alan, McConkey, Haley, Henneman, Peter, Venema, Andrea, Schwartz, Charles E., Stevenson, Roger E., Skinner, Steven A., DuPont, Barbara R., Fletcher, Robin S., Balci, Tugce B., Siu, Victoria Mok, Granadillo, Jorge L., Masters, Jennefer, Kadour, Mike, Friez, Michael J., van Haelst, Mieke M., Mannens, Marcel M. A. M., Louie, Raymond J., Lee, Jennifer A., Tedder, Matthew L., Alders, Marielle, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Human Genetics, Amsterdam Gastroenterology Endocrinology Metabolism, and ACS - Pulmonary hypertension & thrombosis

Abstract

A Correction to this paper has been published: https://doi.org/10.1038/s41436-021-01130-z.

Published
2021
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3. MOESM1 of Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature

Author

Ciolfi, Andrea, Aref-Eshghi, Erfan, Pizzi, Simone, Pedace, Lucia, Miele, Evelina, Kerkhof, Jennifer, Flex, Elisabetta, Martinelli, Simone, Radio, Francesca, Ruivenkamp, Claudia, Santen, Gijs, Bijlsma, Emilia, Barge-Schaapveld, Daniela, Ounap, Katrin, Siu, Victoria, R. Kooy, Dallapiccola, Bruno, Sadikovic, Bekim, and Tartaglia, Marco

Abstract

Additional file 1: Figure S1. Differentially methylated regions in Rahman syndrome (RMNS). Plots display chromosome coordinates vs CpG site’s methylation level, for RMNS samples (red) and controls (blue).

Published
2020
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4. MOESM2 of Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature

Author

Ciolfi, Andrea, Aref-Eshghi, Erfan, Pizzi, Simone, Pedace, Lucia, Miele, Evelina, Kerkhof, Jennifer, Flex, Elisabetta, Martinelli, Simone, Radio, Francesca, Ruivenkamp, Claudia, Santen, Gijs, Bijlsma, Emilia, Barge-Schaapveld, Daniela, Ounap, Katrin, Siu, Victoria, R. Kooy, Dallapiccola, Bruno, Sadikovic, Bekim, and Tartaglia, Marco

Abstract

Additional file 2: Figure S2. Tissue-specific expression profiles for hypomethylated genes in Rahman syndrome (RMNS). The expression profiles from 416 tissues/anatomical parts are calculated using 65761 Affymetrix Human Genome U133 Plus 2.0 arrays in Genevestigator; hierarchical clustering is performed using Pearson correlation as similarity measure and optimal-leaf ordering. Black square highlights gene cluster with maximum expression in brain tissues (displayed in Fig. 3).

Published
2020
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5. MOESM3 of A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

Author

Oud, Machteld, Bonnard, Carine, Mans, Dorus, Altunoglu, Umut, Sumanty Tohari, Ng, Alvin, Ascia Eskin, Lee, Hane, C. Rupar, Wagenaar, Nathalie, Wu, Ka, Piya Lahiry, Pazour, Gregory, Nelson, Stanley, Hegele, Robert, Roepman, Ronald, HĂźlya Kayserili, Byrappa Venkatesh, Siu, Victoria, Reversade, Bruno, and Arts, Heleen

Abstract

Additional file 3: Figure S1. The ICK missense mutation (c.358GÂ >Â T; p.G120C) segregates with disease.

Published
2016
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6. MOESM5 of A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

Author

Oud, Machteld, Bonnard, Carine, Mans, Dorus, Altunoglu, Umut, Sumanty Tohari, Ng, Alvin, Ascia Eskin, Lee, Hane, C. Rupar, Wagenaar, Nathalie, Wu, Ka, Piya Lahiry, Pazour, Gregory, Nelson, Stanley, Hegele, Robert, Roepman, Ronald, HĂźlya Kayserili, Byrappa Venkatesh, Siu, Victoria, Reversade, Bruno, and Arts, Heleen

Abstract

Additional file 5: Figure S3. Different classes of ciliary phenotypes.

Published
2016
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7. MOESM6 of A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

Author

Oud, Machteld, Bonnard, Carine, Mans, Dorus, Altunoglu, Umut, Sumanty Tohari, Ng, Alvin, Ascia Eskin, Lee, Hane, C. Rupar, Wagenaar, Nathalie, Wu, Ka, Piya Lahiry, Pazour, Gregory, Nelson, Stanley, Hegele, Robert, Roepman, Ronald, HĂźlya Kayserili, Byrappa Venkatesh, Siu, Victoria, Reversade, Bruno, and Arts, Heleen

Abstract

Additional file 6: Figure S4. Ciliary length is not essentially altered in cilia of cells expressing mutant mRFP-ICK.

Published
2016
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8. MOESM7 of A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

Author

Oud, Machteld, Bonnard, Carine, Mans, Dorus, Altunoglu, Umut, Sumanty Tohari, Ng, Alvin, Ascia Eskin, Lee, Hane, C. Rupar, Wagenaar, Nathalie, Wu, Ka, Piya Lahiry, Pazour, Gregory, Nelson, Stanley, Hegele, Robert, Roepman, Ronald, HĂźlya Kayserili, Byrappa Venkatesh, Siu, Victoria, Reversade, Bruno, and Arts, Heleen

Subjects
parasitic diseases
Abstract

Additional file 7: Figure S5. Ciliary length is not markedly altered in ECO patient-derived fibroblasts.

Published
2016
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9. MOESM4 of A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

Author

Oud, Machteld, Bonnard, Carine, Mans, Dorus, Altunoglu, Umut, Sumanty Tohari, Ng, Alvin, Ascia Eskin, Lee, Hane, C. Rupar, Wagenaar, Nathalie, Wu, Ka, Piya Lahiry, Pazour, Gregory, Nelson, Stanley, Hegele, Robert, Roepman, Ronald, HĂźlya Kayserili, Byrappa Venkatesh, Siu, Victoria, Reversade, Bruno, and Arts, Heleen

Abstract

Additional file 4: Figure S2. Alignment of the protein kinase domain in ICK, MAK and MOK in different species.

Published
2016
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10. Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia

Author

Farhan, Sali M.K., Murphy, Lisa M., Robinson, John F., Wang, Jian, Siu, Victoria M., Rupar, C. Anthony, Prasad, Asuri N., Boycott, Kym, Friedman, Jan, Michaud, Jacques, Bernier, Francois, Brudno, Michael, Fernandez, Bridget, Knoppers, Bartha, Samuels, Mark, Scherer, Steve, and Hegele, Robert A.

Subjects
Male, Ataxia, Potassium Channels, Adolescent, KCTD7, Genetic Linkage, Population, Progressive myoclonus epilepsy, Biology, Bioinformatics, Epileptogenesis, Epilepsy, Genetic linkage, medicine, Humans, Exome, Cysteine, education, Exome sequencing, Genetics, education.field_of_study, Chromosome Mapping, Infant, Electroencephalography, medicine.disease, Myoclonic Epilepsies, Progressive, Neurology, Whole-exome sequencing, Child, Preschool, Mutation, Tyrosine, Female, Neurology (clinical), medicine.symptom, Chromosomes, Human, Pair 7
Abstract

Summary Epilepsy affects approximately 1% of the world's population. Genetic factors and acquired etiologies, as well as a range of environmental triggers, together contribute to epileptogenesis. We have identified a family with three daughters affected with progressive myoclonus epilepsy with ataxia. Clinical details of the onset and progression of the neurologic presentation, epileptic seizures, and the natural history of progression over a 10-year period are described. Using autozygosity genetic mapping, we identified a high likelihood homozygous region on chromosome 7p12.1-7q11.22. We subsequently applied whole-exome sequencing and employed a rare variant prioritization analysis within the homozygous region. We identified p.Tyr276Cys in the potassium channel tetramerization domain–containing seven gene, KCTD7, which is expressed predominantly in the brain. Mutations in this gene have been implicated previously in epileptic phenotypes due to disturbances in potassium channel conductance. Pathogenicity of the mutation was supported by bioinformatic predictive analyses and variant cosegregation within the family. Further biologic validation is necessary to fully characterize the pathogenic mechanisms that explain the phenotypic causes of epilepsy with ataxia in these patients.

Published
2014

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