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Your search keyword '"Yvonne Hilhorst-Hofstee"' showing total 2 results
Start Over Author "Yvonne Hilhorst-Hofstee" Journal nature genetics
2 results on '"Yvonne Hilhorst-Hofstee"'

1. SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype

Author

H Joenje, Detlev Schindler, E. T. Korthof, Thomas Bettecken, Beatrice Schuster, Anneke B. Oostra, J.P. de Winter, Karolina Hain, A. W. M. Nieuwint, Chantal Stoepker, Yvonne Hilhorst-Hofstee, Katharina Eirich, Nicolaas G. J. Jaspers, Martin A. Rooimans, John Rouse, Jurgen Steltenpool, Human genetics, CCA - Oncogenesis, Molecular Genetics, and Developmental Biology

Subjects
Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Fanconi anemia, complementation group C, DNA repair, Regulator, nutritional and metabolic diseases, Interstrand crosslink, Biology, medicine.disease, chemistry.chemical_compound, Fanconi Anemia Proteins, chemistry, Genome maintenance, Fanconi anemia, hemic and lymphatic diseases, medicine, DNA
Abstract

DNA interstrand crosslink repair requires several classes of proteins, including structure-specific endonucleases and Fanconi anemia proteins. SLX4, which coordinates three separate endonucleases, was recently recognized as an important regulator of DNA repair. Here we report the first human individuals found to have biallelic mutations in SLX4. These individuals, who were previously diagnosed as having Fanconi anemia, add SLX4 as an essential component to the FA-BRCA genome maintenance pathway.

Published
2011
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2. Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

Author

Sarina G. Kant, Marjolein Kriek, Johan T. den Dunnen, Nicolette S. den Hollander, Arie van Haeringen, Gert-Jan B. van Ommen, Irina N. Snoeck, Marja W. Wessels, Christian Gilissen, Emmelien Aten, Yvonne Hilhorst-Hofstee, Martijn H. Breuning, Claudia A. L. Ruivenkamp, Rowida Almomani, Gijs W. E. Santen, Maartje Nielsen, Els A. J. Peeters, Yu Sun, Public Health, Clinical Genetics, and Obstetrics & Gynecology

Subjects
Male, DNA Copy Number Variations, Micrognathism, Biology, medicine.disease_cause, Chromatin remodeling, Speech Disorders, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Intellectual disability, Genetics, medicine, otorhinolaryngologic diseases, Humans, Abnormalities, Multiple, Child, Coffin–Siris syndrome, Exome sequencing, 030304 developmental biology, Sequence Deletion, 0303 health sciences, Mutation, Middle Aged, medicine.disease, Chromatin Assembly and Disassembly, SWI/SNF, Chromatin, DNA-Binding Proteins, Child, Preschool, Face, Female, Haploinsufficiency, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Hand Deformities, Congenital, 030217 neurology & neurosurgery, Neck, Transcription Factors
Abstract

Item does not contain fulltext We identified de novo truncating mutations in ARID1B in three individuals with Coffin-Siris syndrome (CSS) by exome sequencing. Array-based copy-number variation (CNV) analysis in 2,000 individuals with intellectual disability revealed deletions encompassing ARID1B in 3 subjects with phenotypes partially overlapping that of CSS. Taken together with published data, these results indicate that haploinsufficiency of the ARID1B gene, which encodes an epigenetic modifier of chromatin structure, is an important cause of CSS and is potentially a common cause of intellectual disability and speech impairment.

Published
2012

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