A. Poustka

Details der Publikationsliste

Zeitraum

1988 - 2008

Anzahl

82

Co-Autoren

A Database of Germline P53 Mutations in Cancer-Prone Families (2007)

Sedlacek Kodet, Z. Sedlacek, A. Poustka, P. Goetz

We created a comprehensive database covering all published cases of germline p53 mutations. The current version lists 580 tumours in 448 individuals belonging to 122 independent pedigrees. The...

DMBT1 expression is down-regulated in breast cancer (2004)

Braidotti, P, Nuciforo, PG, Mollenhauer, J, Poustka, A, Pellegrini, C, Moro, A, ...

Abstract Background We studied the expression of DMBT1 (deleted in malignant brain tumor 1), a putative tumor suppressor gene, in normal, proliferative, and malignant breast epithelium and its...

Variance stabilization and robust normalization for microarray gene expression data (2002)

Von Heydebreck,A., Huber,W., Poustka,A., Vingron,M.

We introduce a statistical model for microarray gene expression data that comprises data calibration, the quantification of di erential gene expression, and the quantification of measurement error....

Variance stabilization and robust normalization for microarray gene expression data (2002)

Von Heydebreck, A., Huber, W., Poustka, A., Vingron, M.

We introduce a statistical model for microarray gene expression data that comprises data calibration, the quantification of di erential gene expression, and the quantification of measurement error....

Toward a catalog of human genes and proteins: Sequencing and analysis of 500 novel complete protein coding human cDNAs (2001)

Wiemann, S., Weil, B., Wellenreuther, R., Gassenhuber, J., Glassl, S., Ansorge, W., ...

With the complete human genomic sequence being unraveled, the focus will shift to gene identification and to the functional analysis of gene products. The generation of a set of cDNAs, both sequences...

Processing and quality control of DNA array hybridization data (2000)

Beißbarth, T., Fellenberg, K., Brors, B., Arribas-Prat, R., Boer, J. M., Hauser, N. C., ...

Motivation: The technology of hybridization to DNA arrays is used to obtain the expression levels of many different genes simultaneously. It enables searching for genes that are expressed...

1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis (1999)

Vulliamy, T J, Heiss, N S, Connor, J M, ...

Dyskeratosis congenita (DC) is a rare inherited disorder characterised by the early onset of reticulate skin pigmentation, nail dystrophy, and mucosal leucoplakia. In over 80% of cases bone marrow...

A database of germline p53 mutations in cancer-prone families (1997)

Z. Sedlacek, R. Kodet, A. Poustka, P. Goetz

We created a comprehensive database covering all published cases of germline p53 mutations. The current version lists 580 tumours in 448 individuals belonging to 122 independent pedigrees. The...

Alternative splicing in the fragile X gene FMR1 (1993)

De Graaff, E., De Boulle, K., Eichler, E.E., Konecki, D.S., Reyniers, E., ...

Human Molecular Genetics 2 pp. 399–404 (1993) The authors wish to note a mistake which was incorporated in figure 3 where both Asp and Asn were given the letter code N. A correct version of the...

The human embryonic myosin alkali light chain gene: use of alternative promoters and 3' non-coding regions (1991)

Rorter, M., Zimmermann, K., Poustka, A., Sousssi-Yanicostas, N., Starzinski-Powitz, A.

Nucleic Acids Research, 19, pp. 1497–1504 (1991) The authors wish to apologise for the omission of a co-author from the title of this article. Some of the human RNA samples used were provided by...

Physical maps of 4p16.3, the area expected to contain the Huntington disease mutation (1990)

Bucan, Maja, Zimmer, M., Whaley, W. Lance, Poustka, A., Youngman, S., Allitto, Bernice A., ...

The gene for Huntington disease, a neurodegenerative disorder with autosomal dominant inheritance, has been localized to the terminal portion of the short arm of human chromosome 4 (4p16.3) by...

The murine genes Hox-5.1 and Hox-4.1 belong to the same HOX complex on chromosome 2 (1990)

Stubbs, L., Poustka, A., Baron, A., Lehrach, H., Lonai, P., Duboule, D.

Two different loci of Antennapedia-related homeobox-containing genes have been shown to map to mouse chromosome 2: the HOX-5 complex and the Hox-4.1 gene. These independently derived loci are likely...

Construction of a NotI linking library and isolation of new markers close to the Huntington's disease gene (1988)

Pohl, T.M., Zimmer, M., MacDonald, M.E., Smith, B., Bucan, M., Poustka, A., ...

Linking clones contain sequences flanking recognition sites for enzymes cutting rarely in mammalian DNA. They can be used to obtain and correlate both physical and genetic mapping information over...

Transcriptional organization of a 450-kb region of the human X chromosome in Xq28.

Bione, S, Tamanini, F, Maestrini, E, Tribioli, C, Poustka, A, Torri, G, ...

In this paper, we report the transcriptional organization of a 450-kb gene cluster in Xq28, flanked by the glucose-6-phosphate dehydrogenase and the color vision genes. CpG islands previously...

Physical map of human Xq27-qter: localizing the region of the fragile X mutation.

Poustka, A, Dietrich, A, Langenstein, G, Toniolo, D, Warren, S T, Lehrach, H

We describe a physical map of the end of the long arm of the human X chromosome encompassing the region from Xq27.2 to the q telomere, inclusive of the chromosomal band Xq28. This region is of...

A database of germline p53 mutations in cancer-prone families.

Sedlacek, Z, Kodet, R, Poustka, A, Goetz, P

We created a comprehensive database covering all published cases of germline p53 mutations. The current version lists 580 tumours in 448 individuals belonging to 122 independent pedigrees. The...

Primer design for large scale sequencing.

Haas, S, Vingron, M, Poustka, A, Wiemann, S

We have developed PRIDE, a primer design program that automatically designs primers in single contigs or whole sequencing projects to extend the already known sequence and to double strand...

Preselection of shotgun clones by oligonucleotide fingerprinting: an efficient and high throughput strategy to reduce redundancy in large-scale sequencing projects.

Radelof, U, Hennig, S, Seranski, P, Steinfath, M, Ramser, J, Reinhardt, R, ...

Large-scale genomic sequencing projects generally rely on random sequencing of shotgun clones, followed by different gap closing strategies. To reduce the overall effort and cost of those projects...

Normalization of array hybridization experiments in differential gene expression analysis.

Eickhoff, B, Korn, B, Schick, M, Poustka, A

For detecting and confirming differentially expressed genes it is necessary to have a trustworthy reference. So called 'housekeeping genes' are frequently used for this purpose as internal standard....

Comparative Genome Sequence Analysis of the Bpa/Str Region in Mouse and Man

Platzer, M., Bate, R., Gloeckner, G., Botcherby, M.R.M., Nordsiek, G., ...

The progress of human and mouse genome sequencing programs presages the possibility of systematic cross-species comparison of the two genomes as a powerful tool for gene and regulatory element...

Clustering of multiallele DNA markers near the Huntington's disease gene.

MacDonald, M E, Cheng, S V, Zimmer, M, Haines, J L, Poustka, A, Allitto, B, ...

Five highly informative multiallele restriction fragment length polymorphisms (RFLPs) of value for preclinical diagnosis of Huntington's disease (HD) have been genetically characterized. One RFLP was...

Direct selection of DNA sequences conserved between species.

Sedlacek, Z, Konecki, D S, Siebenhaar, R, Kioschis, P, Poustka, A

An essential requirement in the analysis of genomes is the identification of functionally important sequence elements, which are often evolutionarily conserved. We describe here the development of a...

The human embryonic myosin alkali light chain gene: use of alternative promoters and 3' non-coding regions.

Rotter, M, Zimmerman, K, Poustka, A, Soussi-Yanicostas, N, Starzinski-Powitz, A

Recently we have found evidence that the human embryonic myosin alkali light chain (MLC1 emb) gene has two functional promoters and that its mRNAs exhibit heterogeneity in their 3'untranslated...

Construction of a NotI linking library and isolation of new markers close to the Huntington's disease gene.

Pohl, T M, Zimmer, M, MacDonald, M E, Smith, B, Bucan, M, Poustka, A, ...

Linking clones contain sequences flanking recognition sites for enzymes cutting rarely in mammalian DNA. They can be used to obtain and correlate both physical and genetic mapping information over...

Selective isolation of cosmid clones by homologous recombination in Escherichia coli.

Poustka, A, Rackwitz, H R, Frischauf, A M, Hohn, B, Lehrach, H

A procedure for selection of specific cosmid clones by homologous recombination between cosmid clones from a library and sequences cloned into a plasmid has been developed. Cosmid libraries...

The (6;9) chromosome translocation, associated with a specific subtype of acute nonlymphocytic leukemia, leads to aberrant transcription of a target gene on 9q34.

Von Lindern, M, Poustka, A, Lerach, H, Grosveld, G

The specific (6;9)(p23;q34) chromosomal translocation is associated with a defined subtype of acute nonlymphocytic leukemia (ANLL). The 9q34 breakpoint is located at the telomeric side of the c-abl...

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

Knight, S W, Heiss, N S, Vulliamy, T J, Greschner, S, Stavrides, G, Pai, G S, ...

Dyskeratosis congenita is a rare inherited bone marrow-failure syndrome characterized by abnormal skin pigmentation, nail dystrophy, and mucosal leukoplakia. More than 80% of patients develop...

A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene

Bates, G. P., MacDonald, M. E., Baxendale, S., Sedlacek, Z., Youngman, S., Romano, D., ...

The Huntington disease (HD) gene has been mapped to the most distal subband of chromosome 4p. Analysis of recombination events has not provided an unequivocal location of the HD gene, but it...

Transcriptional organization of a 450-kb region of the human X chromosome in Xq28.

Bione, S, Tamanini, F, Maestrini, E, Tribioli, C, Poustka, A, Torri, G, ...

In this paper, we report the transcriptional organization of a 450-kb gene cluster in Xq28, flanked by the glucose-6-phosphate dehydrogenase and the color vision genes. CpG islands previously...

Physical map of human Xq27-qter: localizing the region of the fragile X mutation.

Poustka, A, Dietrich, A, Langenstein, G, Toniolo, D, Warren, S T, Lehrach, H

We describe a physical map of the end of the long arm of the human X chromosome encompassing the region from Xq27.2 to the q telomere, inclusive of the chromosomal band Xq28. This region is of...

A database of germline p53 mutations in cancer-prone families.

Sedlacek, Z, Kodet, R, Poustka, A, Goetz, P

We created a comprehensive database covering all published cases of germline p53 mutations. The current version lists 580 tumours in 448 individuals belonging to 122 independent pedigrees. The...

Primer design for large scale sequencing.

Haas, S, Vingron, M, Poustka, A, Wiemann, S

We have developed PRIDE, a primer design program that automatically designs primers in single contigs or whole sequencing projects to extend the already known sequence and to double strand...

Preselection of shotgun clones by oligonucleotide fingerprinting: an efficient and high throughput strategy to reduce redundancy in large-scale sequencing projects.

Radelof, U, Hennig, S, Seranski, P, Steinfath, M, Ramser, J, Reinhardt, R, ...

Large-scale genomic sequencing projects generally rely on random sequencing of shotgun clones, followed by different gap closing strategies. To reduce the overall effort and cost of those projects...

Normalization of array hybridization experiments in differential gene expression analysis.

Eickhoff, B, Korn, B, Schick, M, Poustka, A

For detecting and confirming differentially expressed genes it is necessary to have a trustworthy reference. So called 'housekeeping genes' are frequently used for this purpose as internal standard....

Comparative Genome Sequence Analysis of the Bpa/Str Region in Mouse and Man

Platzer, M., Bate, R., Gloeckner, G., Botcherby, M.R.M., Nordsiek, G., ...

The progress of human and mouse genome sequencing programs presages the possibility of systematic cross-species comparison of the two genomes as a powerful tool for gene and regulatory element...

Clustering of multiallele DNA markers near the Huntington's disease gene.

MacDonald, M E, Cheng, S V, Zimmer, M, Haines, J L, Poustka, A, Allitto, B, ...

Five highly informative multiallele restriction fragment length polymorphisms (RFLPs) of value for preclinical diagnosis of Huntington's disease (HD) have been genetically characterized. One RFLP was...

Direct selection of DNA sequences conserved between species.

Sedlacek, Z, Konecki, D S, Siebenhaar, R, Kioschis, P, Poustka, A

An essential requirement in the analysis of genomes is the identification of functionally important sequence elements, which are often evolutionarily conserved. We describe here the development of a...

The human embryonic myosin alkali light chain gene: use of alternative promoters and 3' non-coding regions.

Rotter, M, Zimmerman, K, Poustka, A, Soussi-Yanicostas, N, Starzinski-Powitz, A

Recently we have found evidence that the human embryonic myosin alkali light chain (MLC1 emb) gene has two functional promoters and that its mRNAs exhibit heterogeneity in their 3'untranslated...

Construction of a NotI linking library and isolation of new markers close to the Huntington's disease gene.

Pohl, T M, Zimmer, M, MacDonald, M E, Smith, B, Bucan, M, Poustka, A, ...

Linking clones contain sequences flanking recognition sites for enzymes cutting rarely in mammalian DNA. They can be used to obtain and correlate both physical and genetic mapping information over...

Selective isolation of cosmid clones by homologous recombination in Escherichia coli.

Poustka, A, Rackwitz, H R, Frischauf, A M, Hohn, B, Lehrach, H

A procedure for selection of specific cosmid clones by homologous recombination between cosmid clones from a library and sequences cloned into a plasmid has been developed. Cosmid libraries...

The (6;9) chromosome translocation, associated with a specific subtype of acute nonlymphocytic leukemia, leads to aberrant transcription of a target gene on 9q34.

Von Lindern, M, Poustka, A, Lerach, H, Grosveld, G

The specific (6;9)(p23;q34) chromosomal translocation is associated with a defined subtype of acute nonlymphocytic leukemia (ANLL). The 9q34 breakpoint is located at the telomeric side of the c-abl...

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

Knight, S W, Heiss, N S, Vulliamy, T J, Greschner, S, Stavrides, G, Pai, G S, ...

Dyskeratosis congenita is a rare inherited bone marrow-failure syndrome characterized by abnormal skin pigmentation, nail dystrophy, and mucosal leukoplakia. More than 80% of patients develop...

A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene

Bates, G. P., MacDonald, M. E., Baxendale, S., Sedlacek, Z., Youngman, S., Romano, D., ...

The Huntington disease (HD) gene has been mapped to the most distal subband of chromosome 4p. Analysis of recombination events has not provided an unequivocal location of the HD gene, but it...

X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684).

Dahl, N, Samson, F, Thomas, N S, Hu, L J, Gong, W, Herman, G, ...

The locus for X linked recessive myotubular myopathy (MTM1) has previously been mapped to Xq28 by linkage analysis. We report two new families that show recombination between MTM1 and either DXS304...

1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis.

Knight, S W, Vulliamy, T J, Heiss, N S, Matthijs, G, Devriendt, K, Connor, J M, ...

Dyskeratosis congenita (DC) is a rare inherited disorder characterised by the early onset of reticulate skin pigmentation, nail dystrophy, and mucosal leucoplakia. In over 80% of cases bone marrow...

Respiratory Deleted in Malignant Brain Tumours 1 (DMBT1) levels increase during lung maturation and infection

Müller, H, End, C, Weiss, C, Renner, M, Bhandiwad, A, Helmke, B M, ...

Deleted in Malignant Brain Tumours 1 (DMBT1) is a secreted scavenger receptor cysteine-rich protein that binds and aggregates various bacteria and viruses in vitro. Studies in adults have shown that...

Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours.

Sedlacek, Z., Kodet, R., Kriz, V., Seemanova, E., Vodvarka, P., Wilgenbus, P., ...

We describe two Li-Fraumeni syndrome families. Family A was remarkable for two early childhood cases of adrenocortical tumours, family B for a high incidence of many characteristic cancers, including...