Genomes and Genes
D E Jenne
- Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinaseD E Jenne
Department of Neuroimmunology, Max Planck Institute of Psychiatry, Martinsried, Germany
Nat Genet 18:38-43. 1998..We conclude that germline mutations in STK11, probably in conjunction with acquired genetic defects of the second allele in somatic cells, cause the manifestations of PJ syndrome...
- The human vitronectin (complement S-protein) gene maps to the centromeric region of 17qT M Fink
Deutsches Krebsforschungszentrum, Heidelberg, Federal Republic of Germany
Hum Genet 88:569-72. 1992..None of the previously mapped genes that are evolutionary related to vitronectin are located on the same chromosome...
- Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestationsE Petek
J Med Genet 40:520-5. 2003
- Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletionsD E Jenne
Max Planck Institute of Neurobiology, Department of Neuroimmunology, Martinsried, Germany
Am J Hum Genet 69:516-27. 2001....
- A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletionsD E Jenne
Department of Neuroimmunology, Max Planck Institute of Neurobiology, Am Klopferspitz 18a, Martinsried, 82152, Germany
Genomics 66:93-7. 2000....
- The human dead ringer/bright homolog, DRIL1: cDNA cloning, gene structure, and mapping to D19S886, a marker on 19p13.3 that is strictly linked to the Peutz-Jeghers syndromeR D Kortschak
Department of Genetics, University of Adelaide, South Australia, Australia
Genomics 51:288-92. 1998..3. As this marker is intimately linked to the Peutz-Jeghers syndrome in several large pedigrees, human dri (DRIL1) is a candidate gene for this disorder...
- Structure of the human paralemmin gene (PALM), mapping to human chromosome 19p13.3 and mouse chromosome 10, and exclusion of coding mutations in grizzled, mocha, jittery, and hesitant miceB Burwinkel
Institut fur Physiologische Chemie, Ruhr Universitat Bochum, Germany
Genomics 49:462-6. 1998..Finally, mutation analysis using RNA from mice homozygous for the mutant genes grizzled (gr), mocha (mh), mocha 2J (mh2J), jittery (ji) and hesitant (ji(hes)), which map to this area, excluded mutations in their Palm coding sequences...
- The human guanidinoacetate methyltransferase (GAMT) gene maps to a syntenic region on 19p13.3, homologous to band C of mouse chromosome 10, but GAMT is not mutated in jittery miceD E Jenne
Abt Neuroimmunologie, Max Planck Institut fur Psychiatrie, Martinsried, Federal Republic of Germany
Biochem Biophys Res Commun 238:723-7. 1997..The coding region of the GAMT gene, however, was not mutated in these mutant mice. Our linkage and sequence data will facilitate the identification of new GAMT mutations in patients suffering from an abnormal creatine metabolism...
- The human Met-ase gene (GZMM): structure, sequence, and close physical linkage to the serine protease gene cluster on 19p13.3D Pilat
Max Planck Institut fur Psychiatrie, Abt Neuroimmunologie, Martinsried, Federal Republic of Germany
Genomics 24:445-50. 1994..Thus, the Met-ase, AZU1, PRTN3, and ELA2 genes fall into an established region of homology between mouse chromosomal band 10C and human 19p13.3...
- Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor regionH Kehrer-Sawatzki
Department of Human Genetics, University of Ulm, Ulm, Germany
J Med Genet 40:e116. 2003
- Human perforin (PRF1) maps to 10q22, a region that is syntenic with mouse chromosome 10T M Fink
Deutsches Krebsforschungszentrum, Schwerpunkt Angewandte Tumorvirologie, Heidelberg, Germany
Genomics 13:1300-2. 1992..The perforin locus is not linked to any of the genes of the terminal complement system...
- Three human elastase-like genes coordinately expressed in the myelomonocyte lineage are organized as a single genetic locus on 19pterM Zimmer
Abteilung für Molekulare Neuroendokrinologie, Max Planck Institut fur experimentelle Medizin, Gottingen, Federal Republic of Germany
Proc Natl Acad Sci U S A 89:8215-9. 1992....
- Genomic organization and subchromosomal in situ localization of the murine granzyme F, a serine protease expressed in CD8+ T cellsD E Jenne
Institute of Biochemistry, University of Lausanne, Epalinges, Switzerland
J Immunol 147:1045-52. 1991..By the use of two fluorochromes for simultaneous high resolution in situ hybridization, the granzyme F gene was localized in close proximity distally from the TCR alpha-chain locus on mouse chromosome 14...
- Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethoninE S Moreira
1 Centro de Estudos do Genoma Humano, Universidade de Sao Paulo, Sao Paulo, Brazil
Nat Genet 24:163-6. 2000..2 Mb. The gene encoding telethonin, a sarcomeric protein, lies within this candidate region. We have found that mutations in the telethonin gene cause LGMD 2G, identifying a new molecular mechanism for AR LGMD...
- Changes in chromatin organization at the neutrophil elastase locus associated with myeloid cell differentiationE T Wong
Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada
Blood 94:3730-6. 1999..The altered chromatin structure specific to cells that actively transcribe the AZU1-PRTN3-ELA2 genes suggests that chromatin reorganization is an important mechanism regulating the myeloid-specific transcription of this gene cluster...
- Biological activities of granzyme K are conserved in the mouse and account for residual Z-Lys-SBzl activity in granzyme A-deficient miceE Wilharm
Department of Neuroimmunology, Max Planck Institute of Neurobiology, Am Klopferspitz 18a, D 82152, Martinsried, Germany
FEBS Lett 459:139-42. 1999..We conclude that GzmK expressed by GzmA-deficient T cells accounts for the remaining Z-Lys-SBzl activity. Functional similarities between GzmA and GzmK may explain the subtle immunological deficits observed in GzmA-deficient mice...
- Frequent 4-bp deletion in exon 9 of the SMAD4/MADH4 gene in familial juvenile polyposis patientsW Friedl
Institute of Human Genetics, University of Bonn, Bonn, Germany
Genes Chromosomes Cancer 25:403-6. 1999..Genes Chromosomes Cancer 25:403-406, 1999...
- Angiotensin II-forming heart chymase is a mast-cell-specific enzymeD E Jenne
Biochem J 276:567-8. 1991
- Wegener's autoantigen decodedD E Jenne
Nature 346:520. 1990
- Complete primary structure and functional characterization of the sixth component of the human complement system. Identification of the C5b-binding domain in complement C6J A Haefliger
Institute of Biochemistry, University of Lausanne, Switzerland
J Biol Chem 264:18041-51. 1989..Binding studies with filter-bound C6 fragments generated by proteolysis showed that the C5b-binding domain of C6 was located in the 34-kDa carboxyl terminal fragment consisting of two short consensus repeats and two factor I modules...
- High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 geneH Kehrer-Sawatzki
Department of Human Genetics, University of Ulm, Ulm, Germany
Am J Hum Genet 75:410-23. 2004..Thus, NF1 microdeletions acquired during mitotic cell divisions differ from those occurring in meiosis and are caused by different mechanisms...