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Your search keyword '"Dauwerse, J.G."' showing total 29 results
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29 results on '"Dauwerse, J.G."'

1. Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome. (Letters)

Author

Dauwerse, J.G., Bouman, K., Essen, A.J. van, Hout, A.H. van der, Koisters, G., Breuning, M.H., and Peters, D.J.M.

Subjects
Craniofacial dysostosis -- Genetic aspects, Health, Genetic aspects
Abstract

The acrofacial dysostoses (AFD) are a heterogeneous group of disorders characterised by defects in craniofacial and limb development. The hallmarks include downward slanting palpebral fissures, malar hypoplasia, and receding chin [...]

Published
2002

2. Heterozygous truncating mutation in the human homeobox gene GSH2 has no discernable phenotypic effect. (Letter to JMG)

Author

Dauwerse, J.G., De Die-Smulders, C.E.M., Bakker, E., Breuning, M.H., and Peters, D.J.M.

Subjects
Gene mutations -- Research, Homeobox genes -- Research, Homeotic genes -- Research, Mice, mutant strains -- Observations -- Research, Somatotypes -- Research, Chromosome mapping -- Research, Health, Observations, Research
Abstract

Mutations in transcription factors with homeobox domains have been identified in a number of developmental disorders, for instance, mutations in PAX6 have been identified in patients with aniridia, mutations in [...]

Published
2002

4. Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation

Author

Gijsbers, A.C.J., Dauwerse, J.G., Bosch, C.A.J., Boon, E.M.J., Ende, W. van den, Kant, S.G., Hansson, K.M.B., Breuning, M.H., Bakker, E., and Ruivenkamp, C.A.L.

Subjects
Mosaicism Unbalanced autosomal reciprocal translocation structural rearrangement chimerism
Abstract

Mosaicism involving a normal cell line and an unbalanced autosomal translocation are rare. In this study we present three new cases with such a mosaicism, which were detected by Single Nucleotide Polymorphism (SNP) array analysis in our routine diagnostic setting. These cases were further characterized using Fluorescence in situ Hybridisation (FISH) analysis and conventional karyotyping. The first case is a mentally retarded male who carries an unbalanced translocation in 87% of his cells. The phenotypically normal mother carries the balanced form of the translocation in all her cells. The second case is a phenotypically normal female who has an unbalanced translocation in 52% of her cells. The inheritance could not be determined. The third case is a female referred for Rubinsteine-Taybi syndrome who carries an unbalanced translocation in 60% of her cells. Both parents of this case showed a normal karyotype. The mechanisms that might be responsible for these mosaic karyotypes are discussed. Furthermore, we demonstrate that high-resolution whole-genome SNP array is a powerful tool to reveal cryptic unbalanced translocations and mosaicisms, including the more rare cases. (C) 2011 Elsevier Masson SAS. All rights reserved.

Published
2011

5. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.

Author

Dauwerse, J.G., Dixon, J., Seland, S., Ruivenkamp, C.A., Haeringen, A. van, Hoefsloot, L.H., Peters, D.J., Boers, A.C., Daumer-Haas, C., Maiwald, R., Zweier, C., Kerr, B., Cobo, A.M., Toral, J.F., Hoogeboom, A.J.M., Lohmann, D.R., Hehr, U., Dixon, M.J., Breuning, M.H., Wieczorek, D., Dauwerse, J.G., Dixon, J., Seland, S., Ruivenkamp, C.A., Haeringen, A. van, Hoefsloot, L.H., Peters, D.J., Boers, A.C., Daumer-Haas, C., Maiwald, R., Zweier, C., Kerr, B., Cobo, A.M., Toral, J.F., Hoogeboom, A.J.M., Lohmann, D.R., Hehr, U., Dixon, M.J., Breuning, M.H., and Wieczorek, D.

Abstract

1 januari 2011, Contains fulltext : 96129.pdf (publisher's version ) (Closed access), We identified a deletion of a gene encoding a subunit of RNA polymerases I and III, POLR1D, in an individual with Treacher Collins syndrome (TCS). Subsequently, we detected 20 additional heterozygous mutations of POLR1D in 252 individuals with TCS. Furthermore, we discovered mutations in both alleles of POLR1C in three individuals with TCS. These findings identify two additional genes involved in TCS, confirm the genetic heterogeneity of TCS and support the hypothesis that TCS is a ribosomopathy.

Published
2011

6. A unifying genetic model for facioscapulohumeral muscular dystrophy.

Author

Lemmers, R.J., Vliet, P.J.C. Van, Klooster, R., Sacconi, S., Camano, P., Dauwerse, J.G., Snider, L., Straasheijm, K.R., Ommen, G.J.B. van, Padberg, G.W.A.M., Miller, D.G., Tapscott, S.J., Tawil, R., Frants, R.R., Maarel, S.M. van der, Lemmers, R.J., Vliet, P.J.C. Van, Klooster, R., Sacconi, S., Camano, P., Dauwerse, J.G., Snider, L., Straasheijm, K.R., Ommen, G.J.B. van, Padberg, G.W.A.M., Miller, D.G., Tapscott, S.J., Tawil, R., Frants, R.R., and Maarel, S.M. van der

Abstract

Item does not contain fulltext, Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy in adults that is foremost characterized by progressive wasting of muscles in the upper body. FSHD is associated with contraction of D4Z4 macrosatellite repeats on chromosome 4q35, but this contraction is pathogenic only in certain "permissive" chromosomal backgrounds. Here, we show that FSHD patients carry specific single-nucleotide polymorphisms in the chromosomal region distal to the last D4Z4 repeat. This FSHD-predisposing configuration creates a canonical polyadenylation signal for transcripts derived from DUX4, a double homeobox gene of unknown function that straddles the last repeat unit and the adjacent sequence. Transfection studies revealed that DUX4 transcripts are efficiently polyadenylated and are more stable when expressed from permissive chromosomes. These findings suggest that FSHD arises through a toxic gain of function attributable to the stabilized distal DUX4 transcript.

Published
2010

7. A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome.

Author

Dauwerse, J.G., Vries, B. de, Wouters, C.H., Bakker, E., Rappold, G.A., Mortier, G.R., Breuning, M.H., Peters, D.J., Dauwerse, J.G., Vries, B. de, Wouters, C.H., Bakker, E., Rappold, G.A., Mortier, G.R., Breuning, M.H., and Peters, D.J.

Abstract

Item does not contain fulltext, Here, we report a patient with a novel brachydactyly-syndactyly syndrome and a de novo translocation 46,XY,t(4;6)(q12;p23). We mapped the breakpoint and identified genes in the breakpoint region. One of the genes on chromosome 6, the membrane-associated O-acetyl transferase gene 1 (MBOAT1), was disrupted by the breakpoint. This gene consists of 13 exons and encodes a protein of 495 amino acids. MBOAT1 is predicted to be a transmembrane protein and belongs to the superfamily of membrane-bound O-acyltransferases. These proteins transfer organic compounds, usually fatty acids, onto hydroxyl groups of membrane-embedded targets. Identification of the transferred acyl group and the target may reveal the signaling pathways altered in this novel brachydactyly-syndactyly syndrome.

Published
2007

9. A partial BRCA1 sequence homology mapping to 4q28

Author

Stec, I., primary, van Vliet, M., additional, van Eijk, R., additional, Meijers, H., additional, Kroeze, K.H.G., additional, Dauwerse, J.G., additional, van Ommen, G.-J.B., additional, Cornelisse, C.J., additional, den Dunnen, J.T., additional, and Devilee, P., additional

Published
2001
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10. Refined localisation of the second gene for autosomal dominant polycystic kidney disease

Author

Peters, D.J.M., Saris, J.J., Spruit, L., Dauwerse, J.G., Lannoy, N., Constantinou-Deltas, C.D., Pierides, A., Coto, E., Ravine, D., Fossdal, R., Nørby, Søren, LePaslier, D., Weissenbach, J., van Ommen, G.-J. B., Breuning, M.H., Peters, D.J.M., Saris, J.J., Spruit, L., Dauwerse, J.G., Lannoy, N., Constantinou-Deltas, C.D., Pierides, A., Coto, E., Ravine, D., Fossdal, R., Nørby, Søren, LePaslier, D., Weissenbach, J., van Ommen, G.-J. B., and Breuning, M.H.

Abstract

Genetik, cystenyrer, kortlægning, ADPKD, kromosom 4

Published
1994

13. Cloning the breakpoint cluster region of the inv(16) in acute nonlymphocytic leukemia M4 Eo

Author

Dauwerse, J.G., primary, Wessels, J.W., additional, Giles, R.H., additional, Wiegant, J., additional, van der Reijden, B.A., additional, Fugazza, G., additional, Jumelet, E.A., additional, Smit, E., additional, Baas, F., additional, Raap, A.K., additional, Hagemeijer, A., additional, Baverstock, G.C., additional, van Ommen, G.J.B., additional, and Breuning, M.H., additional

Published
1993
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23. Two Distinct Loci on the Short Arm of Chromosome 16 Are Involved in Myeloid Leukemia

Author

Wessels, J.W., Mollevanger, P., Dauwerse, J.G., Cluitmans, F.H.M., Breuning, M.H., and Beverstock, G.C.

Abstract

We report a case of acute nonlymphocytic leukemia (ANLL) M5 with the characteristic t(8;16)(p11;p13). The breakpoint in the short arm was regionally localized using nonradioactive in situ hybridization with a series of cosmids of chromosome 16. The results show that a difference exists between the breakpoint in chromosome 16(p13) in this t(8;16) and the breakpoint involved in the short arm in the characteristic inversion 16 (p13;q22)) that occurs in ANLL M4eo. Two different loci appear to be involved in these chromosomal rearrangements.

Published
1991
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24. Three Human Glutamate Dehydrogenase Genes (GLUD1, GLUDP2,and GLUDP3) Are Located on Chromosome 10q, but Are Not Closely Physically Linked

Author

Deloukas, P., Dauwerse, J.G., Moschonas, N.K., van Ommen, G.J.B., and van Loon, A.P.G.M.

Abstract

Yeast artificial chromosomes (YACs) or 340 and 370 kb that contain the functional human glutamate dehydrogenase gene (GLUDI) and the pseudogene GLUDP2, respectively, were isolated. These genes were not physically linked t each other nor to any other sequences homologous to the exons of GLUD1. No additional GLUDsequences were found within at least 70 kb of the 5′ and 175 kb of the 3′ end of GLUD1or 150 kb of either end of GLUDP2. By in situhybridization, GLUD1was located at 10q23.3, GLUDP2at 10q11.2, and another pseudogene of the GLUDgene family, GLUDP3, at 10q22.1. DNA fragments of these three genes showed cross-hybridization to the loci assigned to the other two genes, but not to any other chromosomal locus. Thus, these three genes are located at distinct positions on chromosome 10q.

Published
1993
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25. Extensive Cross-Homology Between the Long and the Short Arm of Chromosome 16 May Explain Leukemic Inversions and Translocations

Author

Dauwerse, J.G., Jumelet, E.A., Wessels, J.W., Saris, J.J., Hagemeijer, A., Beverstock, G.C., Ommen, G.J.B. van, and Breuning, M.H.

Abstract

Specific rearrangements of chromosome 16 are well known in acute nonlymphocytic leukemia with abnormal eosinophils. While mapping cosmids relative to breakpoints in chromosome 16 in leukemic cells with fluorescence in situ hybridization (FISH), we have identified three areas of extensive cross-homology between 16p and 16q. Three cosmids among 99 tested showed two large signals on the short arm and one signal on the long arm of chromosome 16. A fourth cosmid showed mainly two signals on the short arm. With the 16p-specific cosmid we can demonstrate that the break-

Published
1992
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