TY - JOUR A1 - Gessler, Manfred A1 - Grupe, Andrew A1 - Grzeschik, Karl-Heinz A1 - Pongs, Olaf T1 - The potassium channel gene HK1 maps to human chromosome 11p14.1, close to the FSHB gene N2 - Transiently activating (A-type) potassium (K) channels are important regulators of action potential and action potential firing frequencies. HK1 designates the firsthuman cDNA that is highly homologous to the rat RCK4 cDNA that codes for an A-type K-channel. The HK1 channel is expressed in heart. By somatic cell hybrid analysis, the HK1 gene has been assigned to human chromosome 11p13-pl4, the WAGR deletion region (Wilms tumor, aniridia, genito-urinary abnormalities and mental retardation). Subsequent pulsed field gel (PFG) analysis and comparison with the well-established PFG map of this region localized the gene to 11p14, 200-600 kb telomeric to the FSHB gene. KW - Biochemie Y1 - 1992 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-59184 ER - TY - JOUR A1 - Gessler, Manfred A1 - König, A. A1 - Bruns, G. A. P. T1 - The genomic organization and expression of the WT1 gene N2 - The Wilms tumor gene WTl, a proposed tumor suppressor gene, has been identifled based on its location within a homozygous deletion found in tumor tissue. The gene encodes a putative transcription factor containing a Cys/His zinc finger domain. The critical homozygous deletions, however, are rarely seen, suggesting that in many cases the gene may be inactivated by more subtle alterations. To facilitate the seareh for smaller deletions and point mutations we have established the genomic organization of the WTl gene and have determined the sequence of all 10 exons and flanking intron DNA. The pattern of alternative splicing in two regions has been characterized in detail. These results will form the basis for future studies of mutant alleles at this locus. KW - Biochemie Y1 - 1992 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-59195 ER - TY - JOUR A1 - Vortkamp, Andrea A1 - Franz, Thomas A1 - Gessler, Manfred A1 - Grzeschik, Karl-Heinz T1 - Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt) N2 - No abstract available Y1 - 1992 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-30166 ER - TY - JOUR A1 - Wolf, Markus A1 - Klug, Jörg A1 - Hackenberg, Reinhard A1 - Gessler, Manfred A1 - Grzeschik, Karl-Heinz A1 - Beato, Miguel A1 - Suske, Guntram T1 - Human CC10, the homologue of rabbit uteroglobin: genomic cloning, chromosomal localization and expression in endometrial cell lines N2 - No abstract available KW - Biochemie Y1 - 1992 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-59206 ER -