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3. Predictive testing for Wilson's disease using tightly linked and flanking DNA markers

Author

Farrer, L.A., Bowcock, A.M., Hebert, J.M., Bonne-Tanir, B., Sternlieb, I., Giagheddu, M., St. George-Hyslop, P., Frydman, M., Lossner, J., Demelia, L., Carcassi, C., Lee, R., Beker, R., Bale, A.E., Donis-Keller, H., Scheinberg, I.H., and Cavalli-Sforza, L.L.

Subjects
Liver diseases -- Genetic aspects, Nervous system -- Abnormalities, Wilson's disease -- Genetic aspects, Chromosome mapping -- Research, Genetic disorders -- Cases, Health, Psychology and mental health
Abstract

Wilson's disease is a disorder of copper metabolism. The gene for Wilson's disease is especially common, and about 1 in 90 of all people carry this gene. Wilson's disease is recessive: the disease results when an individual inherits one of the disease genes from each of his or her parents. The gene for Wilson's disease is located on chromosome 13. Using the techniques of molecular biology, it is now possible to locate the gene within the chromosome with great precision. In the past, researchers could identify the location of a gene only when nearby genetic markers were available for correlation. Now it is possible to use DNA fragments to examine regions of chromosomes where classic markers are few and far between. Studying 52 families affected by Wilson's disease in North America, Europe, and the Middle East, it was possible to determine that the most likely location for the Wilson's disease gene was between two DNA markers on the long arm of chromosome 13, near q14. A larger number of families will have to be studied before the definitive assignment can be made. A clinically important result of this finding is that it may be possible to determine the likelihood of Wilson's disease in children who have not yet begun to develop symptoms. It should be emphasized that a true screening test has not been accomplished, but rather that the odds for a particular child in a family with a history of Wilson's disease may be calculated. For some genetic disorders, such a determination may be of only academic interest. But Wilson's disease may be treated with penicillamine, which binds excess copper that has accumulated and helps the body eliminate it. Therefore, the identification of children with the disorder prior to the development of symptoms may result in the early initiation of treatment with improved results. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1991

5. THE MOLECULAR BASIS OF REOVIRUS VIRULENCE

Author

Fields, B.N., primary, Weiner, H.L., additional, Drayna, D.T., additional, Sharpe, A.H., additional, Hrdy, D., additional, Rubin, D., additional, Burstin, S., additional, Ahmed, R., additional, Gentsch, J., additional, and Donis-Keller, H., additional

Published
1980
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6. Comparative Genomic Analysis of 60 Mycobacteriophage Genomes: Genome Clustering, Gene Acquisition, and Gene Size

Author

Hatfull, GF, Jacobs-Sera, D, Lawrence, JG, Pope, WH, Russell, DA, Ko, CC, Weber, RJ, Patel, MC, Germane, KL, Edgar, RH, Hoyte, NN, Bowman, CA, Tantoco, AT, Paladin, EC, Myers, MS, Smith, AL, Grace, MS, Pham, TT, O'Brien, MB, Vogelsberger, AM, Hryckowian, AJ, Wynalek, JL, Donis-Keller, H, Bogel, MW, Peebles, CL, Cresawn, SG, Hendrix, RW, Hatfull, GF, Jacobs-Sera, D, Lawrence, JG, Pope, WH, Russell, DA, Ko, CC, Weber, RJ, Patel, MC, Germane, KL, Edgar, RH, Hoyte, NN, Bowman, CA, Tantoco, AT, Paladin, EC, Myers, MS, Smith, AL, Grace, MS, Pham, TT, O'Brien, MB, Vogelsberger, AM, Hryckowian, AJ, Wynalek, JL, Donis-Keller, H, Bogel, MW, Peebles, CL, Cresawn, SG, and Hendrix, RW

Abstract

Mycobacteriophages are viruses that infect mycobacterial hosts. Expansion of a collection of sequenced phage genomes to a total of 60-all infecting a common bacterial host-provides further insight into their diversity and evolution. Of the 60 phage genomes, 55 can be grouped into nine clusters according to their nucleotide sequence similarities, 5 of which can be further divided into subclusters; 5 genomes do not cluster with other phages. The sequence diversity between genomes within a cluster varies greatly; for example, the 6 genomes in Cluster D share more than 97.5% average nucleotide similarity with one another. In contrast, similarity between the 2 genomes in Cluster I is barely detectable by diagonal plot analysis. In total, 6858 predicted open-reading frames have been grouped into 1523 phamilies (phams) of related sequences, 46% of which possess only a single member. Only 18.8% of the phams have sequence similarity to non-mycobacteriophage database entries, and fewer than 10% of all phams can be assigned functions based on database searching or synteny. Genome clustering facilitates the identification of genes that are in greatest genetic flux and are more likely to have been exchanged horizontally in relatively recent evolutionary time. Although mycobacteriophage genes exhibit a smaller average size than genes of their host (205 residues compared with 315), phage genes in higher flux average only 100 amino acids, suggesting that the primary units of genetic exchange correspond to single protein domains. © 2010 Elsevier Ltd. All rights reserved.

Published
2010

7. The RET proto-oncogene and cancer

Author

Donis-Keller H

Subjects
Male, endocrine system diseases, Molecular Sequence Data, Adrenal Gland Neoplasms, DNA, Single-Stranded, Multiple Endocrine Neoplasia Type 2a, Multiple Endocrine Neoplasia Type 2b, Pheochromocytoma, RET proto-oncogene, Biology, Proto-Oncogene Mas, Exon, Neoplasms, Proto-Oncogenes, Internal Medicine, medicine, Missense mutation, Humans, Point Mutation, Thyroid Neoplasms, Polymorphism, Single-Stranded Conformational, Base Sequence, Point mutation, Receptor Protein-Tyrosine Kinases, medicine.disease, genomic DNA, Medullary carcinoma, RET Gene Product, Carcinoma, Medullary, Cancer research, Female
Abstract

The RET proto-oncogene, a receptor tyrosine kinase, has been evaluated as a candidate gene for multiple endocrine neoplasia type 2A and type 2B (MEN 2A and MEN 2B), for familial medullary thyroid carcinoma (FMTC), and for sporadic cases of medullary thyroid carcinoma (MTC) and pheochromocytomas. We determined the genomic structure of RET and used single-strand conformational polymorphism (SSCP) analysis to identify sequence variants in genomic DNA from families segregating MEN 2 and FMTC. In addition, we examined paired tumour and lymphocyte genomic DNAs from individuals with sporadic cases of MTC and pheochromocytoma. Altogether, we and others found 21 missense mutations in five cysteines clustered in the extra-cellular domain of RET (exons 10 and 11) associated with 111 MEN 2A and FMTC families. In contrast, a single point mutation that results in the substitution of threonine for methionine within the catalytic core of the tyrosine kinase domain (codon 918, exon 16) is responsible for all 66 reported cases of MEN 2B. Two missense mutations and a six base-pair deletion were identified in MTC tumour DNA, but no mutations were identified from pheochromocytoma tumour DNAs. A predictive DNA test for MEN 2A-associated mutations in RET has been developed that is based on detection of missense mutations by polymerase chain reaction (PCR) amplification and restriction endonuclease cleavage. A dominant oncogene model for the action of the RET gene product is proposed as a mechanism of action in MEN 2A, MEN 2B, FMTC and for at least some cases of sporadic MTC.

Published
1995

8. VNTR and microsatellite polymorphisms within the subtelomeric region of 7q

Author

Hing, A V, Helms, C, and Donis-Keller, H

Subjects
Genetic Markers, Male, Base Sequence, Genome, Human, Molecular Sequence Data, Chromosome Mapping, Sequence Analysis, DNA, DNA, Satellite, Telomere, Deoxyribonuclease HpaII, Pedigree, Blotting, Southern, Humans, Female, Crossing Over, Genetic, Chromosomes, Fungal, Deoxyribonucleases, Type II Site-Specific, Chromosomes, Human, Pair 7, Polymorphism, Restriction Fragment Length, Research Article, Gene Library, Repetitive Sequences, Nucleic Acid
Abstract

The molecular basis of a highly polymorphic RFLP marker, HTY146c3 (D7S591), within the subtelomeric region of human chromosome 7q was determined by restriction-fragment and DNA sequence analysis. Two polymorphic systems were found--a simple base-substitution polymorphism and a GC-rich VNTR element with a core structure of C3AG2C2. In addition, a compound-imperfect CA dinucleotide-repeat element was identified approximately 10-20 kb from the telomeric sequence repeat (T2AG3), demonstrating that microsatellites can extend essentially to the ends of human chromosomes. The microsatellite marker, sAVH-6 (D7S594), is highly polymorphic, with 10 alleles and an observed heterozygosity of 84% found with the CEPH (Centre d'Etude du Polymorphisme Humain) reference pedigree collection. In combination with the RFLPs, the informativeness of the markers contained within 240 kb at the telomere approaches 100%. A unique genetic and physical STS marker, sAVH-6, defines the endpoint of the long arm of human chromosome 7.

Published
1993

9. Improved predictive test for MEN2, using flanking dinucleotide repeats and RFLPs

Author

James Howe, Lairmore, T. C., Mishra, S. K., Dou, S., Veile, R., Wells Jr, S. A., and Donis- Keller, H.

Subjects
Genetic Markers, Male, Genomic Library, Base Sequence, Genotype, Chromosomes, Human, Pair 10, Genetic Linkage, Genome, Human, Molecular Sequence Data, Multiple Endocrine Neoplasia, DNA, Single-Stranded, Pedigree, Predictive Value of Tests, Karyotyping, Humans, Female, Chromosomes, Fungal, In Situ Hybridization, Fluorescence, Polymorphism, Restriction Fragment Length, Research Article, Repetitive Sequences, Nucleic Acid
Abstract

Gene(s) for the autosomal dominant endocrine cancer syndromes, multiple endocrine neoplasia type 2A (MEN2A), multiple endocrine neoplasia type 2B (MEN2B), and familial medullary thyroid carcinoma (MTC1) all map to the pericentromeric region of chromosome 10. Predictive testing for the inheritance of mutant alleles in individuals at risk for these disorders has been limited by the availability of highly informative and closely linked flanking markers. We describe the development of eight new markers, including two PCR-based dinucleotide repeat polymorphisms and six RFLPs that flank the disease loci. One of the dinucleotide repeat markers (sJRH-1) derives from the RBP3 locus on 10q11.2 and has a PIC of .88. The other dinucleotide repeat (sTCL-1) defines a new locus, D10S176, that maps by in situ hybridization to 10p11.2 and has a PIC of .68. We have constructed a new genetic linkage map of the pericentromeric region of chromosome 10, on the basis of 13 polymorphisms at six loci, which places the MEN2A locus between the dinucleotide repeat markers, with odds of 5,750:1 over the next most likely position. Using this set of markers, predictive genetic testing of 130 at-risk individuals from six families segregating MEN2A revealed that 95% were jointly informative with flanking markers, representing a significant improvement in genetic testing capabilities.

Published
1992

10. The Olin Curriculum: Thinking Toward the Future

Author

Somerville, M., primary, Anderson, D., additional, Berbeco, H., additional, Bourne, J.R., additional, Crisman, J., additional, Dabby, D., additional, Donis-Keller, H., additional, Holt, S.S., additional, Kerns, S., additional, Kerns, D.V., additional, Martello, R., additional, Miller, R.K., additional, Moody, M., additional, Pratt, G., additional, Pratt, J.C., additional, Shea, C., additional, Schiffman, S., additional, Spence, S., additional, Stein, L.A., additional, Stolk, J.D., additional, Storey, B.D., additional, Tilley, B., additional, Vandiver, B., additional, and Zastavker, Y., additional

Published
2005
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14. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

Author

Belloni, E., primary, Muenke, M., additional, Roessler, E., additional, Traverse, G., additional, Siegel-Bartelt, J., additional, Frumkin, A., additional, Mitchell, H.F., additional, Donis-Keller, H., additional, Helms, C., additional, Hing, A.V., additional, Heng, H.H.Q., additional, Koop, B., additional, Martindale, D., additional, Rommens, J.M., additional, Tsui, L.-C., additional, and Scherer, S.W., additional

Published
1996
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15. Mapping Human Telomere Regions with YAC and P1 Clones: Chromosome-Specific Markers for 27 Telomeres Including 149 STSs and 24 Polymorphisms for 14 Proterminal Regions

Author

Vocero-Akbani, A., primary, Helms, C., additional, Wang, J-C., additional, Sanjurjo, F.J., additional, Korte-Sarfaty, J., additional, Veile, R.A., additional, Liu, L., additional, Jauch, A., additional, Burgess, A.K., additional, Hing, A.V., additional, Holt, M.S., additional, Ramachandra, S., additional, Whelan, A.J., additional, Anker, R., additional, Ahrent, L., additional, Chen, M., additional, Gavin, M.R., additional, Iannantuoni, K., additional, Morton, S.M., additional, Pandit, S.D., additional, Read, C.M., additional, Steinbrueck, T., additional, Warlick, C., additional, Smoller, D.A., additional, and Donis-Keller, H., additional

Published
1996
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19. Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews

Author

Glaser, B., primary, Chiu, K. C., additional, Liu, L., additional, Anker, R., additional, Nestorowicz, A., additional, Cox, N. J., additional, Landau, H., additional, Kaiser, N., additional, Thornton, P. S., additional, Stanley, C. A., additional, Cerasi, E., additional, Baker, L., additional, Donis-Keller, H., additional, and Permutt, M. A., additional

Published
1995
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20. Integrated genetic map of human chromosome 2

Author

COX, S., primary, BRYANT, S. P., additional, COLLINS, A., additional, WEISSENBACH, J., additional, DONIS-KELLER, H., additional, KOELEMAN, B. P. C., additional, STEINKASSERER, A., additional, and SPURR, N. K., additional

Published
1995
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21. The CEPH Consortium Linkage Map of Human Chromosome 11

Author

Litt, M., primary, Kramer, P., additional, Kort, E., additional, Fain, P., additional, Cox, S., additional, Root, D., additional, White, R., additional, Weissenbach, J., additional, Donis-Keller, H., additional, Gatti, R., additional, Weber, J., additional, Nakamura, Y., additional, Julier, C., additional, Hayashi, K., additional, Spurr, N., additional, Dean, M., additional, Mandel, J., additional, Kidd, K., additional, Kruse, T., additional, Retief, A., additional, Bale, A., additional, Meo, T., additional, Vergnaud, G., additional, Warren, S., additional, and Willard, H.F., additional

Published
1995
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22. CEPH Consortium Map of Chromosome 14

Author

Cox, D.W., primary, Billingsley, G.D., additional, Bale, A.E., additional, Donis-Keller, H., additional, Edwards, J.H., additional, Litt, M., additional, Mcbride, W., additional, Persichetti, F., additional, Spurr, N.K., additional, Weber, J.L., additional, Weissenbach, J., additional, and White, R.L., additional

Published
1995
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23. The CEPH consortium linkage map of human chromosome 16

Author

Kozman, H.M., primary, Keith, T.P., additional, Donis-keller, H., additional, White, R.L., additional, Weissenbach, J., additional, Dean, M., additional, Vergnaud, G., additional, Kidd, K., additional, Gusella, J., additional, Royle, N.J., additional, Sutherland, G.R., additional, and Mulley, J.C., additional

Published
1995
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27. Familial hyperinsulinism maps to chromosome 11p14–15.1, 30 cM centromeric to the insulin gene

Author

Glaser, B., primary, Chiu, K.C., additional, Anker, R., additional, Nestorowicz, A., additional, Landau, H., additional, Ben-Bassat, H., additional, Shlomai, Z., additional, Kaiser, N., additional, Thornton, P.S., additional, Stanley, C.A., additional, Spielman, R.S., additional, Gogolin-Ewens, K., additional, Cerasi, E., additional, Baker, L., additional, Rice, J., additional, Donis-Keller, H., additional, and Permutt, M.A., additional

Published
1994
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31. CEPH Consortium Map of Chromosome 9

Author

Attwood, J., primary, Chiano, M., additional, Collins, A., additional, Donis-Keller, H., additional, Dracopoli, N., additional, Fountain, J., additional, Falk, C., additional, Goudie, D., additional, Gusella, J., additional, Haines, J., additional, Armour, J.A.L., additional, Jeffreys, A.J., additional, Kwiatkowski, D., additional, Lathrop, M., additional, Matise, T., additional, Northrup, H., additional, Pericak-Vance, M.A., additional, Phillips, J., additional, Retief, A., additional, Robson, E., additional, Shields, D., additional, Slaugenhaupt, S., additional, Vergnaud, G., additional, Weber, J., additional, Weissenbach, J., additional, White, R., additional, Yates, J., additional, and Povey, S., additional

Published
1994
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36. A microsatellite-based index map of human chromosome 11

Author

Litt, M., primary, Kramer, P., additional, Hauge, X.Y., additional, Weber, J.L., additional, Wang, Z., additional, Wilkle, P.J., additional, Holt, M.S., additional, Mishra, S., additional, Donis-Keller, H., additional, Warnich, L., additional, Retief, A.E., additional, Jones, C., additional, and Welssenbach, J., additional

Published
1993
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