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3. Alpha1-Antitrypsin Deficiency

Author

D.W. Cox

Subjects
0303 health sciences, 03 medical and health sciences, 0302 clinical medicine, 030228 respiratory system, 030304 developmental biology
Published
2013

4. Contents, Vol. 69, 1995

Author

L. Migliore, V.R. Beklemisheva, W. Mcbride, Peter Little, M.J. Macera, H. Kawakami, H. Homma, M. Litt, G.J. Pappas, F. Nagai, Sally P. Craig, A.I. Massarini, Y. Xiong, B.E. Bejcek, G. Calabrese, J.A. Trofatter, S. Mori, N. Mandahl, U. Fischer, H. Satoh, N. Nouri, K. Yamada, D.H. Beach, P.S. Meltzer, G.R. Sutherland, M.S. Rossi, S. lacobelli, I.P. Aranha, D.W. Cox, D.F. Bishop, E. Baker, P. Falco, W.L. Farrar, C.-S. Chen, J.M. Trent, I. Sures, G.J. Hannon, J.C. Wallace, H.M. Mohrenweiser, F. Mitelman, H. Donis-Keller, Rh. Brown, R.C. Levitt, N.K. Spurr, G. Belge, F. Persichetti, S. Nakamura, D.I. Smith, R.L. White, M. Matsui, T. Sidén, H.A. Drabkin, X.-N. Chen, M.G. Bialer, R.A. Conte, J. Essers, E. Capanna, S. Bartnitzke, E. Götten, J.M. de Stoppelaar, D.A. Meyers, D.R. Rosen, G. Palka, R.S. Verma, A. Burgess, M.A. Batzer, John H. Edwards, V.R. Klein, M.E. Walker, T. Varkony, J.R. Korenberg, W.S. Modi, C.A. Redi, J.L. Weber, E. Meese, H. Zhang, P. de Jong, F. Pompetti, K. Okamoto, G.D. Billingsley, Diane W. Cox, P.D. Cotter, R.R. Angell, J. Weissenbach, J. Bullerdiek, O.M.Z. Howard, A.S. Graphodatsky, A.E. Bale, Gioacchino Natoli, M. Höglund, Z. Liu, E. Garcia, E. Thompson, D.J. Demetrick, S. Matsumoto, B. Brandriff, H. Sato, G. Dolf, Heiko Muller, A. Wandall, R. Scarpato, B. Hoebee, S. Takai, P.A. Martin-DeLeon, P. Åman, K. Tanaka, O. Koiwai, A. Greenwood, G. Viale, J.H. Edwards, Veronica van Heyningen, K. Piontek, and J.H. Kersey

Subjects
Botany, Genetics, Zoology, Biology, Molecular Biology, Genetics (clinical)
Published
1995

5. Cloning and mapping of murine superoxide dismutase copper chaperone (Ccsd) and mapping of the human ortholog

Author

D.W. Cox, S.D.P. Moore, and M.M. Chen

Subjects
chemistry.chemical_classification, chemistry.chemical_element, Biology, Molecular biology, Copper, Cell biology, Superoxide dismutase, Metallochaperones, Open reading frame, chemistry, Gene mapping, Complementary DNA, Chaperone (protein), Genetics, biology.protein, Metalloprotein, Molecular Biology, Genetics (clinical)
Abstract

Copper does not exist in a free state within cells but is found consistently bound to metalloproteins. Specific metallochaperones escort copper to numerous targets within the cell, providing protection from the toxic effects of intracellular free copper. Many metallochaperones have been characterized in yeast, mouse, and human. To further characterize mouse metallochaperones, we cloned murine Ccsd from an adult mouse cDNA brain library, including both the coding region and the 5′ and 3′ UTRs. We obtained a 1,174-bp cDNA with an 825-bp open reading frame, translating a 274 amino acid protein that is 86.9% identical to human CCS. Using a mouse × hamster radiation hybrid panel, we mapped Ccsd to a proximal position on mouse chromosome 19. We mapped human CCS to 11q13 (homologous with mouse chromosome 19), utilizing a human × hamster radiation hybrid panel. The human and mouse metallochaperones are ubiquitously expressed in the major tissues of the body but seem to have different transcription products.

Published
2000

6. Localization of a locus for Charcot-Marie-Tooth neuropathy type la (CMT1A) to chromosome 17

Author

M. Dixon, P. Wong, Marion Lewis, Phyllis J. McAlpine, S. James, G. Coopland, W. Koopman, T.E. Feasby, Hiroko Kaita, C. Guy, L. Komarnicki, D.W. Cox, S. Philipps, S. Qayyum, W.C. Yee, J. Wright, and Angelika F. Hahn

Subjects
Genetic Markers, Male, congenital, hereditary, and neonatal diseases and abnormalities, Genetic Linkage, Locus (genetics), Biology, law.invention, Muscular Atrophy, Spinal, Charcot-Marie-Tooth Disease, law, Myosin, Genetics, medicine, Humans, Genes, Dominant, Genetic heterogeneity, Chromosome Mapping, Skeletal muscle, Phenotype, Pedigree, Chromosome 17 (human), medicine.anatomical_structure, Genetic marker, Mutation, Recombinant DNA, Female, Lod Score, Chromosomes, Human, Pair 17
Abstract

Phenotypic data for 71 genetic markers for members of five Caucasian kindreds were tested for linkage with the autosomal dominant mutations causing Charcot-Marie-Tooth (hereditary motor sensory) neuropathy type I, characterized by markedly reduced nerve conduction velocities. Lod score analysis gave no evidence of linkage to the closely linked chromosome 1 loci SPTA1-FY-F5-AT3 and APOA2. In contrast, these mutations were found to map closely ( z = 10.828 , ĝq = 0.0) to D17S58, an anonymous segment of DNA from 17p11.2–p11.1, and thus define the CMT1A locus. Segragation information data for an inferred recombinant offspring indicated that the CMT1A locus is probably proximal to MYH2, the locus encoding adult skeletal muscle myosin heavy polypeptide 2, which maps to 17p13. Analysis of the lod scores on a per kindred basis gave no evidence of genetic heterogeneity.

Published
1990

7. Contents Vol. 55, 1990

Author

J. Peters, A. Schinzel, Christopher J. Rawlings, J.L. Mandel, M. Tolley, S. Mercer, B. Byth, M.V. Bell, S. Povey, D. Goudie, N.C. Dracopoli, A. Geurts van Kessel, B.J.B. Keats, I.W. Craig, J. Schmidtke, T. Gedde-Dahl, P. Williamson, C. Junien, E. Solomon, C.J. Rawlings, F. Ricciuti, M. Farrall, S.T. Reeders, M.T Davisson, N.E. Simpson, S.L. Sherman, J. Weissenbach, S. Trumper, D.P. Doolittle, V. Reed, S. Malcolm, D.J. Cockburn, A. Hare, N.K. Spurr, Veronica van Heyningen, D.C. Wallace, R.H.Y. Lam, G.B. van Ommen, A.L. Hillyard, J. Ott, R.L. Nussbaum, J.M. Shoffner, H. Donis-Keller, C.E. Hildebrand, S. Malik, G. Gillett, R. Daniels, F. Mitelman, K.E. Davies, B. Maidak, A.M. Bowcock, J.A. Marshall Graves, P. Pearson, J. Walters, B. Carritt, B.S. Emanuel, T. Doyle, R.E. Lucier, S. Riley, R. Williamson, D. Lindenbaum, Y. Nakamura, J. Borrow, J.M. Trent, T.A. Donlon, C. Jones, A.G. Searle, G.R. Sutherland, L.-C. Tsui, L.C. Stranc, Steve Laval, R.T. Taggart, Sir Walter F. Bodmer, M.T Lott, P. Goodfellow, N. Shimizu, E. Keirnan, Baule, D.T. Bishop, S. Renfrey, M. Leppert, S. Ruddy, M. Barnett, P.J. McAlpine, J.C. Murray, K. Kidd, Y. Kaneko, H.F. Willard, A.P. Monaco, J. Hewitt, Y. Boyd, Z. Chen, H.H. Ropers, H. Cann, C. Boucheix, F. Lewitter, H.S. Chan, S. Ghosh, D.N. Cooper, S.L. Naylor, A. Torroni, C. Porter, G.M. Hampton, C. Westbrook, V. Buckle, M. Chipperfield, T. Morris, M.A. Pericak-Vance, K.H. Grzeschik, J. Frézal, L.L. Field, L. Sefton, W.O. McBride, P.A. Lalley, S.P. Craig, A. Bowcock, R.R. Ali, A. Ziegler, M. Quitt, S.J. O'Brien, D.W. Cox, K. Cooper, M.H. Skolnick, D.R. Cox, M M Le Beau, T.B. Shows, A. Walley, D.H. Ledbetter, K. Gulati, B.R. Seizinger, R. Track, T. Ward, G.A. Bruns, and A.Y. Sakaguchi

Subjects
Botany, Genetics, Zoology, Biology, Molecular Biology, Genetics (clinical)
Published
1990

8. Alpha (α1)-Antitrypsin Deficiency

Author

D.W. Cox

Subjects
03 medical and health sciences, medicine.medical_specialty, 0302 clinical medicine, α1 antitrypsin, Endocrinology, Chemistry, Internal medicine, medicine, Alpha (ethology), 030212 general & internal medicine, 030204 cardiovascular system & hematology
Published
2001

9. IMMUNOGLOBULIN HEAVY-CHAIN VARIABLE REGION POLYMORPHISMS AND MULTIPLE-SCLEROSIS SUSCEPTIBILITY

Author

D.W. Cox, Michael A. Walter, L.L. Hashimoto, and George C. Ebers

Subjects
Multiple Sclerosis, Genotype, Immunology, Population, Immunoglobulin Variable Region, Locus (genetics), Biology, Identity by descent, Gene Frequency, Genetic predisposition, Immunology and Allergy, Humans, Genetic Predisposition to Disease, Allele, education, Allele frequency, Alleles, Genetics, education.field_of_study, Polymorphism, Genetic, Genetic heterogeneity, Haplotype, Neurology, Haplotypes, Neurology (clinical)
Abstract

In addition to the major histocompatibility complex (MHC), genetic susceptibility in multiple sclerosis (MS) appears to be influenced by other loci. A recent study has identified a population association with an immunoglobulin heavy chain variable region polymorphism in the VH2-B5 family, with both familial and sporadic MS patients. We have repeated this association study in a second MS patient group and used two ethnically and geographically matched control groups and the MS patients' unaffected sibs for comparisons. The VH2-B5 polymorphism was found to be over-represented in MS patients when compared to all three control groups. This VH2-B5 association was stronger when the MS patient data were combined with data from our previous study. To further explore the implications of this population association, MS sibships were analyzed for haplotype sharing by identity by descent (IBD) for VH2 and VH3f gene segment polymorphisms. The distribution of haplotype sharing did not differ from that expected based upon random segregation. The data are consistent with the IGVH locus exerting a minor effect perhaps by interacting with other loci to influence MS susceptibility or with genetic heterogeneity and a role for this complex in a subgroup of patients.

Published
1993

10. Correction to article in Vol 86:252–258 (1999)

Author

B.J. Morris, R.T. Mulcahy, T. Taguchi, M. Nadal, M.Q. Islam, M.J. Ha, J. Scalzi-Martin, F. Nagai, C. Steinlein, P.A. Ioannou, Y. Endo, J. Weimer, L. Carim, R. Jiménez, J.F. Gui, J.Y. Le Gall, S. Aytay, A. Le Treut, J. Szpirer, R.J. Leach, Y. Zhao, K.P. Fung, S.K.W. Tsui, O. Cremona, D.J. Gilbert, O. Jaillon, C. Ozouf-Costaz, Y. Remache, S. Yoshida, C. Fischer, B. Peral, M. Burgos, N. Inoue, S. Minvielle, N. Berger, K. L. Puschus, A. Goy, A. Kovacic, K. Ilc, A.D. Bi, B. Dupont, R. Gong, L. Yin, T. Faraut, R. Díaz de la Guardia, A. Sánchez, S. Denis, A.C. Clase, P. Amati, L.L. Hansen, A.U. Christoff, J. Yang, P. Bray-Ward, L.D.S. Kok, J. Yoon, G. Calabrese, L. Sumoy, S.S. Siu, Y. Yonenaga-Yassuda, F.J. Lovicu, J. Demongeot, H.S. Kooistra, M. Breen, A.D. Zelenetz, L. Zhou, O. Cohen, S. Shiosaka, M.-A. Mermet, C. Szpirer, J.J. Gipp, M. Harada, Melissa C. Liechty, P. van Vooren, B.L. Barnoski, Y. Wang, W. Feichtinger, S. Cuccato, K. Fukasawa, G. Romeo, R. Giannini, M. Schmid, H. Tamura, H. Satoh, B.K. Hall, K. Gardiner, P De Camilli, J.-F. Laes, M.M. Chen, K. Islam, S. Zhao, B. Levy, N. Arnold, T. Mitsuya, M. Ravoet, W. Kim, T. Werner, A. Hirata, D.C. Ward, Y. Jacques, L van der Weyden, H. Roest Crollius, M. Escarceller, R. Corvi, C. Renier, M. Kiechle, C. Henry, A. Solans, T.M. Dunn, D.J. Adams, J. Justesen, A. Tosolini, H. Zhang, S.V. Reddy, H. Lührs, P. Miccoli, C.A. Moreira-Filho, V. Fagundes, K.E. McVeigh, G. Palka, F. Basolo, B.A. van Oost, C. Dasilva, Y.M. Lee, J.J. Mallee, E. Moon, F. Gilles, G.D. Roodman, L. Bouneau, R. Schaub, B. Toutain, M.L. Little, M. Bullejos, D.W. Cox, S.S. Murthy, L. Guenet, N.A. Jenkins, John Hozier, R. Cinti, S.D.P. Moore, I.S. Lantinga-van Leeuwen, A. Bernot, S. Wu, H.J. Kim, M.M.Y. Waye, L. Stuppia, R. Mural, J.A. Mol, C.R. Müller, F. Magrangeas, T. Menzel, G. Tate, F. Apiou, S. de la Luna, W. Scheppach, G. Torre, M. Gratacòs, G.T. Berry, L. Yu, S.-Y. Zhao, M. Matsui, C. Dubourg, J.R. Testa, C. Haffner, J. Weissenbach, A. Lucente, N. Kardon, X. Quan, R. Jørgensen, U. Weidle, C. M. Carpio, K.M. Fukasawa, V. David, A. Pizzuti, Q. Tu, N.G. Copeland, C. Bonillo, X. Estivill, M. Nimmakayalu, V. Gatta, R. Melcher, C.Y. Lee, J.C. Hozier, M.A. Pujana, J.E. Wiley, I. Fogh, A. Ratti, K. Hirschhorn, and Y. Xu

Subjects
Genetics, Biology, Molecular Biology, Genetics (clinical), Classics
Published
2000

11. A polymorphism of the MYH7 gene

Author

D.W. Cox, M.A. Siewertsen, and H.-P. Vosberg

Subjects
Genetics, Deoxyribonuclease BamHI, Chromosome Mapping, Biology, Myosins, Molecular biology, Deoxyribonuclease EcoRI, Polymorphism (materials science), Gene mapping, Genes, Genetic marker, Humans, MYH7, Restriction fragment length polymorphism, Allele frequency, Gene, Polymorphism, Restriction Fragment Length
Published
1990

12. Report of the committee on the genetic constitution of chromosome 14

Author

D.W. Cox, Y. Nakamura, T. Gedde-Dahl, Jr., and R.H.Y. Lam

Subjects
Genetics, Chromosomes, Human, Pair 14, Genetic Markers, Constitution, media_common.quotation_subject, Chromosome, Chromosome Mapping, Biology, Gene mapping, Genes, Genetic marker, Humans, Molecular Biology, Gene, Nomenclature, Genetics (clinical), media_common
Published
1990

13. Subject Index, Vol. 69, 1995

Author

P.A. Martin-DeLeon, P. Åman, G.J. Hannon, K. Okamoto, M.A. Batzer, K. Tanaka, O. Koiwai, Giandomenico Palka, E. Capanna, A. Greenwood, G. Viale, J.H. Edwards, J.C. Wallace, A.S. Graphodatsky, A.E. Bale, B. Brandriff, H. Sato, P. de Jong, J.R. Korenberg, J.L. Weber, S. Nakamura, R.A. Conte, A. Burgess, T. Varkony, M.S. Rossi, J. Essers, J.M. de Stoppelaar, John H. Edwards, M.G. Bialer, Heiko Muller, D.I. Smith, P.D. Cotter, A.I. Massarini, M.J. Macera, R.C. Levitt, T. Sidén, H. Kawakami, K. Piontek, J.H. Kersey, E. Thompson, S. Matsumoto, W.S. Modi, F. Pompetti, G.D. Billingsley, E. Garcia, G. Belge, X.-N. Chen, D.J. Demetrick, Sally P. Craig, H. Donis-Keller, G.J. Pappas, G. Dolf, A. Wandall, B. Hoebee, F. Nagai, B.E. Bejcek, S. Bartnitzke, S. Takai, N. Nouri, H. Satoh, Gioacchino Natoli, M. Höglund, N.K. Spurr, G.R. Sutherland, S. lacobelli, D.A. Meyers, D.R. Rosen, R.R. Angell, N. Mandahl, R.S. Verma, D.F. Bishop, W.L. Farrar, P.S. Meltzer, Z. Liu, Y. Xiong, D.H. Beach, L. Migliore, I.P. Aranha, I. Sures, H.M. Mohrenweiser, V.R. Beklemisheva, W. Mcbride, D.W. Cox, Peter Little, F. Persichetti, H. Homma, M. Litt, R.L. White, F. Mitelman, J.A. Trofatter, R. Scarpato, M. Matsui, S. Mori, E. Götten, V.R. Klein, U. Fischer, Veronica van Heyningen, E. Baker, Rh. Brown, J. Bullerdiek, C.-S. Chen, H.A. Drabkin, M.E. Walker, Giuseppe Calabrese, P. Falco, J.M. Trent, C.A. Redi, O.M.Z. Howard, K. Yamada, E. Meese, H. Zhang, Diane W. Cox, and J. Weissenbach

Subjects
Index (economics), Statistics, Genetics, Subject (documents), Biology, Molecular Biology, Genetics (clinical)
Published
1995

14. Identification of a polymorphism in human CD44

Author

H.K. Dadi, A.M. Greaves, D.W. Cox, and M. Letarte

Subjects
Electrophoresis, Agar Gel, Genetics, Polymorphism, Genetic, Chromosomes, Human, Pair 11, Receptors, Lymphocyte Homing, Chromosome Mapping, Biology, Polymorphism (materials science), Gene mapping, Genetic marker, Humans, Restriction fragment length polymorphism, Allele frequency
Published
1991

15. Two polymorphisms of the FOS oncogene

Author

M.A. Siewertsen, David F. Barker, and D.W. Cox

Subjects
Chromosomes, Human, Pair 14, Oncogene, Proto-Oncogene Proteins c-fos, Protein-Tyrosine Kinases, Biology, Molecular biology, Gene mapping, Proto-Oncogene Proteins, Proto-Oncogenes, Genetics, Cancer research, Humans, Deoxyribonucleases, Type II Site-Specific, Allele frequency, Polymorphism, Restriction Fragment Length
Published
1990

16. Abstracts of workshop presentations pp. 1106-1116

Author

F. Mitelman, O.W. McBride, C. Park, F.H. Ruddle, L.L. Field, S.L. Sherman, S.T. Reeders, R.C. Douté, D. Ryan, J.M. Puck, C.E. Hildebrand, W.P. Alles, K.K. Kidd, M M Le Beau, A.M. Bowcock, R.L. Miller, M.A. Spence, T.H. Roderick, R.K. Track, G.R. Sutherland, J.-L. Mandel, D.R. Cox, M. Conneally, M.L. Mador, Frank H. Ruddle, A. Bale, E. Solomon, T.G. Berent, D.P. Doolittle, G. Romeo, A.J. Pakstis, K. Kubzdela, M.E. Hawley, T.A. Donlon, P.N. Goodfellow, R.L. Nussbaum, T.B. Shows, N. Creau-Goldberg, G.A.P Bruns, J. Weissenbach, M. Farrall, R.E. Ferrell, J.A. Rogers, M.A. FergusonSmith, K.E. Davies, A. Schinzel, J.A.M. Graves, J.J. Wasmuth, M.A. Pericak-Vance, L. Giuffra, F. Ricciuti, G.L. Schiff, A.L. Hillyard, P.J. McAlpine, M.T. Davisson, C. Junien, G. Hutchings, Y. Kaneko, D.H. Ledbetter, B. Carritt, N.E. Simpson, J. Ott, P.A. Lalley, Kenneth K. Kidd, H.S. Chan, J.E. Womack, C.T. Falk, H.-H. Ropers, D.T. Bishop, S. Povey, S.L. Naylor, H. Donis-Keller, D.W. Cox, J. Schmidtke, I.W. Craig, D.F. Barker, L.C. Stranc, L.-C. Tsui, J. Frézal, J. Gelernter, K.D. Smith, D.C. Wallace, P. Pearson, K.H. Buetow, P. Cartwright, P.S. Harper, S.J. O'Brien, M. Litt, N.K. Spurr, F. Lewitter, M.L. Cavanaugh, J.C. Murray, M. Smith, B. Keats, J.-C. Kaplan, H.F. Willard, C. Boucheix, B.S. Emanuel, and J.M. Trent

Subjects
Genetics, Library science, Biology, Molecular Biology, Genetics (clinical)
Published
1989

17. Report of the committee on the genetic constitution of chromosomes 13, 14, 15 and 16

Author

H.H. Ropers, D.W. Cox, and T. Gedde-Dahl

Subjects
Chromosomes, Human, Pair 14, Genetic Markers, Genetics, Chromosomes, Human, Pair 15, Chromosomes, Human, Pair 13, Genetic Linkage, Constitution, media_common.quotation_subject, Chromosome Mapping, Biology, Genetic linkage, Genetic marker, Humans, Molecular Biology, Chromosomes, Human, Pair 16, Genetics (clinical), media_common
Published
1987

18. Subject index Vol. 46, 1987

Author

N.E. Morton, A.Y. Sakaguchi, G.R. Sutherland, Victor A. McKusick, H.H. Ropers, J. Weissenbach, T.B. Shows, P.A. Lalley, Hans Eiberg, J.C. Kaplan, G.A. Bruns, Duncan Shaw, D.W. Cox, P.L. Pearson, C.D. Bloomfield, Kenneth K. Kidd, T.H. Roderick, S.L. Naylor, J.M. Trent, T. Gedde-Dahl, A.J. Pakstis, P.J. McAlpine, J.F. Gusella, H.F. Willard, J.M. Lalouel, J.N. Guidi, P.M. Conneally, J.E. Womack, N. Van Cong, D.P. Doolittle, J.F. Mattei, C. Boucheix, Lap-Chee Tsui, S.J. O'Brien, N. Créau-Goldberg, M. Fellous, J.J. Wasmuth, B. Olaisen, C. Junien, H.H. Kazazian, G. Echard, H. Van den Berghe, Anne Spence, B.J.B. Keats, M.T. Davisson, K.E. Davies, J.-L. Mandel, B. Carritt, Jean Frézal, J.M. Graves, Pierre Maroteaux, and R.C. Doute

Subjects
Index (economics), Statistics, Genetics, Subject (documents), Biology, Molecular Biology, Genetics (clinical)
Published
1987

19. Apolipoprotein and lipoprotein concentrations in familial apolipoprotein C-11 deficiency

Author

W. Carl Breckenridge, D.W. Cox, P. Alaupovic, and J. A. Little

Subjects
Apolipoprotein E, medicine.medical_specialty, Very low-density lipoprotein, Apolipoprotein D, Apolipoprotein C, Apolipoprotein B, biology, Cholesterol, Apolipoprotein C-II, chemistry.chemical_compound, Endocrinology, chemistry, Biochemistry, Internal medicine, medicine, biology.protein, lipids (amino acids, peptides, and proteins), Cardiology and Cardiovascular Medicine, Lipoprotein
Abstract

Lipoprotein and apolipoprotein concentrations were determined in 11 homozygous and 9 heterozygous subjects for familial apolipoprotein C-II (Apo C-II) deficiency. Apo C-II was not detectable in the homozygotes, with the exception of 1 subject who possessed immunochemically detectable quantities in one of two samples. Apolipoproteins C-III (Apo C-III) and E (Apo E) were elevated 2-3-fold in 9 of 11 homozygotes. Apo C-III, but not Apo E, correlated with triglyceride levels (1500-4100 mg/dl). However, both Apo C-III and Apo E correlated with the cholesterol levels and one another. Apolipoproteins A-I (Apo A-I), A-II (Apo A-II) and B (Apo B) were reduced to approximately 50-60% of normal values in association with very low levels of cholesterol in high density (HDL; 11 +/- 2 mg/dl) and low density (LDL; 19 +/- 6 mg/dl) lipoproteins in the homozygous subjects. These alterations were associated with a marked decrease in the proportion of plasma Apo C-III associated with HDL. The levels of apolipoprotein D (Apo D) were within the normal range. Nine obligate heterozygotes had Apo C-II concentrations (mean 1.8 +/- 0.5 mg/dl; range 1.2-2.7 mg/dl) which were approximately 40-50% of normal values (mean 2.9 +/- 0.9 mg/dl; range 1.7-5.6 mg/dl). The reduction in absolute amounts of Apo C-II was also reflected in a reduction of the ratio Apo C-II/Apo C-III in very low density lipoproteins (VLDL) and in a reduction in the ability of the sera to activate skim milk lipoprotein lipase. The concentrations of Apo A-II, Apo B, Apo C-III and Apo E were normal. Apo A-I concentrations were normal or slightly low in association with slightly reduced concentrations of HDL cholesterol and a low proportion of plasma Apo C-III in HDL in relation to LDL and VLDL in some heterozygotes. It is concluded that the marked alterations in the apolipoprotein levels in homozygous subjects are primarily a reflection of the deficiency of Apo C-II which results in severe hypertriglyceridemia. In heterozygotes, the partial deficiency of Apo C-II appears to result in a minor disturbance of the clearance of the triglycerides and Apo C-III rich particles but no marked changes in the concentrations of total lipids, lipoproteins and apolipoproteins in fasting plasma.

Published
1982

20. Abstracts of workshop presentations (Part 12 of 16)

Author

H.F. Willard, G.R. Sutherland, B.J.B. Keats, J.M. Trent, P.M. Conneally, H.H. Kazazian, Pierre Maroteaux, J.F. Mattei, J.N. Guidi, G. Echard, T. Gedde-Dahl, N. Van Cong, A.Y. Sakaguchi, D.W. Cox, J.J. Wasmuth, A.J. Pakstis, C. Boucheix, Lap-Chee Tsui, R.C. Doute, J.C. Kaplan, H.H. Ropers, S.J. O'Brien, N. Créau-Goldberg, H. Van den Berghe, P.L. Pearson, S.L. Naylor, M. Fellous, B. Olaisen, C.D. Bloomfield, J. Weissenbach, D.P. Doolittle, G.A. Bruns, N.E. Morton, Victor A. McKusick, M.T. Davisson, K.E. Davies, J.-L. Mandel, T.B. Shows, P.A. Lalley, Duncan Shaw, T.H. Roderick, J.M. Lalouel, Kenneth K. Kidd, Hans Eiberg, P.J. McAlpine, J.E. Womack, J.F. Gusella, C. Junien, Anne Spence, B. Carritt, Jean Frézal, and J.M. Graves

Subjects
Genetics, Library science, Biology, Bioinformatics, Molecular Biology, Genetics (clinical)
Published
1987

21. Activation of prorenin by proteases from polymorphonuclear leukocytes

Author

D.W. Cox, A. V. E. Cybulsky, and D. H. Osmond

Subjects
Proteases, Neutrophils, Physiology, medicine.medical_treatment, Cathepsin D, In Vitro Techniques, In vivo, Physiology (medical), Renin, medicine, Chymotrypsin, Humans, Pharmacology, chemistry.chemical_classification, Enzyme Precursors, Protease, biology, fungi, General Medicine, Hydrogen-Ion Concentration, Trypsin, In vitro, Enzyme Activation, Enzyme, Biochemistry, chemistry, biology.protein, Peptide Hydrolases, medicine.drug
Abstract

Inactive renin (prorenin) can be activated by certain proteases in human blood, of which a possible source in vivo is polymorphonuclear leukocytes (PMNs). We extracted enzyme from PMNs using methods established for the recovery of neutral and acid protease fractions, and tested their effectiveness on plasma prorenin in vitro. Neutral protease preparations, possessing mainly chymotrypsin and elastase activity, produce no activation of prorenin. Exogenous pancreatic α-chymotrypsin does activate plasma prorenin, but less effectively than trypsin. From the quantity of PMNs extracted for neutral protease, and its failure to activate prorenin, we deduce that this enzyme preparation, like exogenous chymotrypsin, is qualitatively unimportant. In contrast, the extracted PMN acid protease fraction, believed to be rich in cathepsin D, exhibited high prorenin activating ability, suggesting both quantitative and qualitative importance. The low pH requirement of this acid protease (near pH 4.0), together with its inactivity at neutral pH, argues against an important systemic role in the conversion of prorenin. However, it may contribute to systemic activation in partnership with other enzymes, or else play a specialized local role in situations where PMN concentration and activity increase, and the pH is on the acid side.

Published
1980

22. Contents, Vol. 46, 1987/ Title Page / Table of Contents

Author

Kenneth K. Kidd, J.E. Womack, N.E. Morton, H.H. Ropers, G.A. Bruns, J.C. Kaplan, S.J. O'Brien, N. Van Cong, M. Fellous, Pierre Maroteaux, P.M. Conneally, J.N. Guidi, C. Junien, Anne Spence, M.T. Davisson, H.F. Willard, D.P. Doolittle, B. Carritt, Jean Frézal, Duncan Shaw, J. Weissenbach, J.M. Graves, G. Echard, K.E. Davies, J.-L. Mandel, J.F. Mattei, T.B. Shows, T.H. Roderick, R.C. Doute, B.J.B. Keats, A.J. Pakstis, J.M. Lalouel, D.W. Cox, H. Van den Berghe, G.R. Sutherland, Lap-Chee Tsui, S.L. Naylor, P.L. Pearson, J.M. Trent, P.J. McAlpine, J.F. Gusella, B. Olaisen, Hans Eiberg, N. Créau-Goldberg, A.Y. Sakaguchi, T. Gedde-Dahl, J.J. Wasmuth, H.H. Kazazian, C. Boucheix, C.D. Bloomfield, Victor A. McKusick, and P.A. Lalley

Subjects
Genetics, Library science, Table of contents, Biology, Title page, Molecular Biology, Genetics (clinical)
Published
1987

23. Abstracts of workshop presentations (Part 9 of 16)

Author

H. Van den Berghe, J.C. Kaplan, J.M. Trent, B.J.B. Keats, J.F. Mattei, M.T. Davisson, C.D. Bloomfield, G.R. Sutherland, T. Gedde-Dahl, Pierre Maroteaux, H.H. Ropers, S.L. Naylor, K.E. Davies, J.-L. Mandel, N. Créau-Goldberg, J.N. Guidi, Victor A. McKusick, Hans Eiberg, N.E. Morton, G. Echard, A.Y. Sakaguchi, J.J. Wasmuth, N. Van Cong, R.C. Doute, P.A. Lalley, D.P. Doolittle, P.L. Pearson, H.H. Kazazian, T.B. Shows, G.A. Bruns, C. Boucheix, J. Weissenbach, H.F. Willard, S.J. O'Brien, B. Olaisen, Lap-Chee Tsui, M. Fellous, P.J. McAlpine, J.F. Gusella, J.M. Lalouel, C. Junien, D.W. Cox, P.M. Conneally, Anne Spence, B. Carritt, Jean Frézal, J.M. Graves, Duncan Shaw, Kenneth K. Kidd, T.H. Roderick, J.E. Womack, and A.J. Pakstis

Subjects
Genetics, Library science, Biology, Bioinformatics, Molecular Biology, Genetics (clinical)
Published
1987

24. Genetic Characterization and Origin of Tunisian Berbers

Author

H. Chaâbani and D.W. Cox

Subjects
Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Tunisia, Immunoglobulin Allotypes, Black People, Population genetics, Ethnic origin, Biology, Immunoglobulin E, White People, Allotype, ABO Blood-Group System, Genetics, Population, α1 antitrypsin, Gene Frequency, Haplotypes, alpha 1-Antitrypsin, ABO blood group system, biology.protein, Humans, Antibody, Genetics (clinical)
Abstract

Blood samples from 120 Tunisian Berbers of Gallala village were typed for Gm and Km immunoglobulin allotypes, alpha-1-antitrypsin variants and AB0 blood groups. The results were compared with those of other Berber groups. The combined data, considered in the light of sociological, historical and paleontological data, support the hypothesis that the Berbers are native to North Africa and their ancestors, the first modern man (Homo sapiens) of North Africa, were the founders of the European populations. The ancestors of the Berbers could have been an intermediate population between H. sapiens from Europe and from South Africa.

Published
1988

25. Abstracts of workshop presentations (Part 4 of 16)

Author

J.F. Mattei, J.N. Guidi, H.F. Willard, N.E. Morton, G.A. Bruns, J. Weissenbach, T. Gedde-Dahl, H. Van den Berghe, N. Van Cong, N. Créau-Goldberg, R.C. Doute, T.B. Shows, C. Boucheix, J.J. Wasmuth, J.M. Trent, A.J. Pakstis, H.H. Ropers, Hans Eiberg, S.J. O'Brien, Victor A. McKusick, H.H. Kazazian, P.J. McAlpine, J.F. Gusella, M. Fellous, A.Y. Sakaguchi, P.A. Lalley, B. Olaisen, J.C. Kaplan, G.R. Sutherland, M.T. Davisson, C.D. Bloomfield, D.P. Doolittle, S.L. Naylor, G. Echard, P.L. Pearson, K.E. Davies, J.-L. Mandel, Lap-Chee Tsui, P.M. Conneally, B.J.B. Keats, D.W. Cox, Pierre Maroteaux, J.M. Lalouel, C. Junien, Anne Spence, B. Carritt, Jean Frézal, J.M. Graves, Kenneth K. Kidd, J.E. Womack, Duncan Shaw, and T.H. Roderick

Subjects
Genetics, Library science, Biology, Molecular Biology, Genetics (clinical)
Published
1987

26. Abstracts of workshop presentations (Part 11 of 16)

Author

J.M. Trent, T. Gedde-Dahl, M.T. Davisson, J.J. Wasmuth, K.E. Davies, J.-L. Mandel, J.C. Kaplan, G.A. Bruns, H.H. Kazazian, S.L. Naylor, P.J. McAlpine, C. Junien, J.F. Gusella, A.Y. Sakaguchi, H. Van den Berghe, J.N. Guidi, N. Van Cong, B. Olaisen, Pierre Maroteaux, S.J. O'Brien, J.F. Mattei, Anne Spence, M. Fellous, Lap-Chee Tsui, R.C. Doute, N.E. Morton, B. Carritt, Jean Frézal, P.L. Pearson, G.R. Sutherland, N. Créau-Goldberg, J.M. Graves, T.B. Shows, Kenneth K. Kidd, G. Echard, Hans Eiberg, J. Weissenbach, C. Boucheix, D.P. Doolittle, C.D. Bloomfield, Duncan Shaw, H.H. Ropers, D.W. Cox, J.E. Womack, Victor A. McKusick, B.J.B. Keats, P.M. Conneally, A.J. Pakstis, P.A. Lalley, T.H. Roderick, H.F. Willard, and J.M. Lalouel

Subjects
Genetics, Library science, Biology, Molecular Biology, Genetics (clinical)
Published
1987

27. Abstracts of workshop presentations pp. 1023-1039

Author

L.C. Stranc, J.M. Puck, D.R. Cox, A.L. Hillyard, P.J. McAlpine, K.K. Kidd, T.B. Shows, R.E. Ferrell, Kenneth K. Kidd, S.L. Sherman, L.L. Field, B.S. Emanuel, M.L. Cavanaugh, F.H. Ruddle, J. Weissenbach, C.E. Hildebrand, A.M. Bowcock, M. Farrall, C.T. Falk, A. Bale, E. Solomon, J.A.M. Graves, N. Creau-Goldberg, G.R. Sutherland, M. Smith, D. Ryan, B. Keats, A.J. Pakstis, G. Romeo, P.N. Goodfellow, G.A.P Bruns, M.A. Spence, M.A. FergusonSmith, J. Schmidtke, F. Mitelman, J. Ott, O.W. McBride, S. Povey, D.W. Cox, S.L. Naylor, S.T. Reeders, R.L. Miller, R.C. Douté, H. Donis-Keller, K. Kubzdela, M.E. Hawley, T.A. Donlon, C. Park, N.E. Simpson, M M Le Beau, P.A. Lalley, D.F. Barker, H.-H. Ropers, M.A. Pericak-Vance, W.P. Alles, M.L. Mador, T.H. Roderick, T.G. Berent, D.C. Wallace, R.L. Nussbaum, Y. Kaneko, D.P. Doolittle, D.T. Bishop, J.-L. Mandel, J. Frézal, J. Gelernter, K.D. Smith, J.C. Murray, J.-C. Kaplan, D.H. Ledbetter, B. Carritt, K.E. Davies, A. Schinzel, P. Cartwright, S.J. O'Brien, F. Ricciuti, M. Conneally, M.T. Davisson, C. Junien, L.-C. Tsui, H.F. Willard, C. Boucheix, P.S. Harper, M. Litt, N.K. Spurr, P. Pearson, G.L. Schiff, G. Hutchings, F. Lewitter, I.W. Craig, J.E. Womack, K.H. Buetow, R.K. Track, J.J. Wasmuth, L. Giuffra, J.M. Trent, J.A. Rogers, H.S. Chan, and Frank H. Ruddle

Subjects
Genetics, Library science, Biology, Molecular Biology, Genetics (clinical)
Published
1989

28. Abstracts of workshop presentations pp. 1075-1091

Author

J.A. Rogers, A.J. Pakstis, G.A.P Bruns, J. Weissenbach, M. Farrall, M.L. Mador, K. Kubzdela, M.E. Hawley, T.A. Donlon, A.L. Hillyard, L.C. Stranc, D.P. Doolittle, P.J. McAlpine, J.A.M. Graves, T.B. Shows, D.W. Cox, B.S. Emanuel, F.H. Ruddle, F. Mitelman, N.E. Simpson, G.L. Schiff, J.M. Puck, K.K. Kidd, D. Ryan, Frank H. Ruddle, S.L. Sherman, G. Hutchings, S. Povey, L.L. Field, J. Ott, D.R. Cox, D.H. Ledbetter, D.C. Wallace, S.L. Naylor, R.L. Miller, H.F. Willard, J.M. Trent, C.E. Hildebrand, B. Carritt, C. Boucheix, P.A. Lalley, C. Park, T.H. Roderick, R.K. Track, M. Conneally, H. Donis-Keller, P. Pearson, D.F. Barker, H.-H. Ropers, K.H. Buetow, T.G. Berent, F. Lewitter, W.P. Alles, D.T. Bishop, P.S. Harper, M. Litt, J.J. Wasmuth, N.K. Spurr, Kenneth K. Kidd, L. Giuffra, H.S. Chan, J.-L. Mandel, C.T. Falk, J.E. Womack, J. Schmidtke, J.C. Murray, J.-C. Kaplan, R.E. Ferrell, J. Frézal, J. Gelernter, K.D. Smith, M.L. Cavanaugh, M.A. Spence, I.W. Craig, M. Smith, B. Keats, F. Ricciuti, M.T. Davisson, C. Junien, L.-C. Tsui, N. Creau-Goldberg, O.W. McBride, S.T. Reeders, R.C. Douté, M M Le Beau, P. Cartwright, S.J. O'Brien, M.A. FergusonSmith, A. Bale, E. Solomon, G. Romeo, K.E. Davies, A. Schinzel, P.N. Goodfellow, R.L. Nussbaum, A.M. Bowcock, G.R. Sutherland, M.A. Pericak-Vance, and Y. Kaneko

Subjects
Genetics, Library science, Biology, Molecular Biology, Genetics (clinical)
Published
1989

29. Abstracts of workshop presentations (Part 14 of 16)

Author

T.B. Shows, A.J. Pakstis, C. Junien, J.M. Lalouel, Anne Spence, N. Van Cong, J.N. Guidi, B. Carritt, Jean Frézal, J.M. Graves, J.M. Trent, P.J. McAlpine, J.F. Gusella, G.R. Sutherland, R.C. Doute, N.E. Morton, G. Echard, B.J.B. Keats, Victor A. McKusick, J. Weissenbach, H.H. Ropers, H. Van den Berghe, M.T. Davisson, H.F. Willard, P.A. Lalley, Hans Eiberg, C.D. Bloomfield, K.E. Davies, S.J. O'Brien, Pierre Maroteaux, J.F. Mattei, J.-L. Mandel, J.C. Kaplan, Kenneth K. Kidd, Lap-Chee Tsui, D.P. Doolittle, S.L. Naylor, M. Fellous, N. Créau-Goldberg, G.A. Bruns, P.L. Pearson, H.H. Kazazian, C. Boucheix, J.E. Womack, B. Olaisen, Duncan Shaw, D.W. Cox, T. Gedde-Dahl, A.Y. Sakaguchi, T.H. Roderick, J.J. Wasmuth, and P.M. Conneally

Subjects
Genetics, Library science, Biology, Bioinformatics, Molecular Biology, Genetics (clinical)
Published
1987

30. Contents Vol. 51, 1989

Author

A. Bale, E. Solomon, M.A. Pericak-Vance, M. Conneally, G. Romeo, D.H. Ledbetter, B. Carritt, Y. Kaneko, P.N. Goodfellow, J.E. Womack, T.G. Berent, P.S. Harper, W.P. Alles, J. Frézal, M. Litt, N.K. Spurr, M.L. Mador, J.J. Wasmuth, J.-L. Mandel, J. Gelernter, L. Giuffra, A.J. Pakstis, F. Ricciuti, K.D. Smith, A.M. Bowcock, O.W. McBride, J. Ott, R.L. Nussbaum, S.T. Reeders, T.H. Roderick, R.C. Douté, N. Creau-Goldberg, L.L. Field, R.K. Track, M M Le Beau, G.A.P Bruns, D.P. Doolittle, G.R. Sutherland, R.E. Ferrell, F. Mitelman, C.E. Hildebrand, C.T. Falk, J.M. Trent, F.H. Ruddle, B.S. Emanuel, M.T. Davisson, N.E. Simpson, P. Pearson, M. Smith, D. Ryan, P.A. Lalley, M.A. FergusonSmith, G.L. Schiff, F. Lewitter, Frank H. Ruddle, B. Keats, A.L. Hillyard, C. Junien, G. Hutchings, I.W. Craig, P.J. McAlpine, R.L. Miller, M.A. Spence, J. Schmidtke, L.-C. Tsui, K.H. Buetow, H.S. Chan, T.B. Shows, K.E. Davies, A. Schinzel, H.-H. Ropers, D.W. Cox, P. Cartwright, S.J. O'Brien, C. Park, D.F. Barker, H.F. Willard, C. Boucheix, M.L. Cavanaugh, J. Weissenbach, M. Farrall, J.A.M. Graves, S.L. Sherman, D.R. Cox, L.C. Stranc, J.M. Puck, K.K. Kidd, K. Kubzdela, M.E. Hawley, T.A. Donlon, D.C. Wallace, H. Donis-Keller, D.T. Bishop, Kenneth K. Kidd, J.A. Rogers, S. Povey, S.L. Naylor, J.C. Murray, and J.-C. Kaplan

Subjects
Botany, Genetics, Zoology, Biology, Molecular Biology, Genetics (clinical)
Published
1989

31. Abstracts of workshop presentations pp. 1040-1056

Author

J.J. Wasmuth, L. Giuffra, P.S. Harper, M. Litt, N.K. Spurr, W.P. Alles, A.J. Pakstis, I.W. Craig, N.E. Simpson, J.-L. Mandel, G.A.P Bruns, J.C. Murray, J.-C. Kaplan, M. Conneally, J.E. Womack, M.L. Cavanaugh, J.A. Rogers, A.M. Bowcock, M.L. Mador, G.R. Sutherland, K. Kubzdela, M.E. Hawley, T.A. Donlon, J. Ott, Frank H. Ruddle, C. Park, M. Smith, B. Keats, B.S. Emanuel, D.P. Doolittle, H.F. Willard, G.L. Schiff, A. Bale, E. Solomon, C. Boucheix, H.S. Chan, F.H. Ruddle, R.E. Ferrell, G. Romeo, H.-H. Ropers, L.L. Field, J.M. Puck, G. Hutchings, D. Ryan, K.K. Kidd, S.L. Sherman, C.E. Hildebrand, M.A. Pericak-Vance, F. Mitelman, J. Frézal, D.H. Ledbetter, P.N. Goodfellow, B. Carritt, P.A. Lalley, J. Gelernter, R.L. Miller, K.D. Smith, L.C. Stranc, K.H. Buetow, M.A. Spence, D.W. Cox, Y. Kaneko, C.T. Falk, T.G. Berent, P. Pearson, O.W. McBride, D.R. Cox, S.T. Reeders, R.C. Douté, R.K. Track, D.F. Barker, F. Lewitter, M M Le Beau, J. Schmidtke, T.H. Roderick, T.B. Shows, J. Weissenbach, M. Farrall, A.L. Hillyard, P.J. McAlpine, N. Creau-Goldberg, J.M. Trent, J.A.M. Graves, M.A. FergusonSmith, D.T. Bishop, Kenneth K. Kidd, R.L. Nussbaum, S. Povey, S.L. Naylor, D.C. Wallace, F. Ricciuti, H. Donis-Keller, M.T. Davisson, C. Junien, L.-C. Tsui, P. Cartwright, S.J. O'Brien, K.E. Davies, and A. Schinzel

Subjects
Genetics, Library science, Computational biology, Biology, Molecular Biology, Genetics (clinical)
Published
1989

32. Abstracts of workshop presentations pp. 948-967

Author

F.H. Ruddle, B.S. Emanuel, S. Povey, M.A. Pericak-Vance, D. Ryan, S.L. Naylor, K. Kubzdela, M.E. Hawley, T.A. Donlon, D.W. Cox, C. Park, D.F. Barker, Y. Kaneko, R.L. Miller, M.L. Cavanaugh, M. Smith, B. Keats, D.C. Wallace, Kenneth K. Kidd, A. Bale, N. Creau-Goldberg, M.L. Mador, A.M. Bowcock, W.P. Alles, G.R. Sutherland, J.-L. Mandel, J. Ott, E. Solomon, A.L. Hillyard, T.B. Shows, M. Conneally, T.G. Berent, J.C. Murray, J.-C. Kaplan, G. Romeo, M.A. FergusonSmith, P. Cartwright, P.J. McAlpine, D.P. Doolittle, J.M. Trent, F. Mitelman, P.N. Goodfellow, S.J. O'Brien, J.A. Rogers, H.-H. Ropers, M.A. Spence, P.A. Lalley, D.T. Bishop, N.E. Simpson, J. Frézal, T.H. Roderick, J.M. Puck, J. Gelernter, K.D. Smith, K.K. Kidd, P. Pearson, R.L. Nussbaum, O.W. McBride, S.T. Reeders, H. Donis-Keller, D.H. Ledbetter, B. Carritt, R.C. Douté, K.E. Davies, A. Schinzel, M M Le Beau, L.L. Field, F. Lewitter, C.E. Hildebrand, F. Ricciuti, M.T. Davisson, L.C. Stranc, R.E. Ferrell, C. Junien, L.-C. Tsui, I.W. Craig, J.E. Womack, K.H. Buetow, G.L. Schiff, G. Hutchings, C.T. Falk, H.F. Willard, C. Boucheix, J. Schmidtke, R.K. Track, P.S. Harper, M. Litt, H.S. Chan, N.K. Spurr, Frank H. Ruddle, J. Weissenbach, M. Farrall, J.A.M. Graves, J.J. Wasmuth, L. Giuffra, S.L. Sherman, D.R. Cox, A.J. Pakstis, and G.A.P Bruns

Subjects
Genetics, Library science, Computational biology, Biology, Molecular Biology, Genetics (clinical)
Published
1989

33. Abstracts of workshop presentations (Part 3 of 16)

Author

T. Gedde-Dahl, S.J. O'Brien, M. Fellous, J.C. Kaplan, A.Y. Sakaguchi, J.J. Wasmuth, P.L. Pearson, B. Olaisen, H.H. Kazazian, J.M. Trent, Lap-Chee Tsui, D.W. Cox, J. Weissenbach, H. Van den Berghe, H.H. Ropers, C. Junien, Hans Eiberg, P.M. Conneally, B.J.B. Keats, Anne Spence, N. Créau-Goldberg, B. Carritt, Jean Frézal, J.M. Lalouel, P.J. McAlpine, J.F. Gusella, J.M. Graves, Duncan Shaw, H.F. Willard, G.R. Sutherland, Pierre Maroteaux, T.H. Roderick, Kenneth K. Kidd, J.E. Womack, C.D. Bloomfield, D.P. Doolittle, G.A. Bruns, N.E. Morton, J.F. Mattei, C. Boucheix, Victor A. McKusick, G. Echard, P.A. Lalley, S.L. Naylor, J.N. Guidi, R.C. Doute, A.J. Pakstis, N. Van Cong, T.B. Shows, M.T. Davisson, K.E. Davies, and J.-L. Mandel

Subjects
Genetics, Library science, Biology, Molecular Biology, Genetics (clinical)
Published
1987

34. Abstracts of workshop presentations pp. 1057-1074

Author

F.H. Ruddle, R.K. Track, G.L. Schiff, G. Hutchings, M.A. Pericak-Vance, D. Ryan, B.S. Emanuel, D.W. Cox, P. Cartwright, J.-L. Mandel, K.H. Buetow, S.J. O'Brien, R.L. Miller, Y. Kaneko, J.J. Wasmuth, L. Giuffra, A.L. Hillyard, P.S. Harper, R.E. Ferrell, M. Litt, N.K. Spurr, P.J. McAlpine, M.L. Mador, D.F. Barker, A.M. Bowcock, A. Bale, E. Solomon, M.A. Spence, G.R. Sutherland, J.M. Puck, W.P. Alles, C. Park, G. Romeo, D.P. Doolittle, M. Conneally, K.E. Davies, A. Schinzel, D.T. Bishop, J.M. Trent, H.F. Willard, C. Boucheix, P.N. Goodfellow, F. Mitelman, R.L. Nussbaum, A.J. Pakstis, Kenneth K. Kidd, Frank H. Ruddle, K.K. Kidd, F. Ricciuti, I.W. Craig, D.H. Ledbetter, B. Carritt, N. Creau-Goldberg, G.A.P Bruns, O.W. McBride, M.T. Davisson, S.T. Reeders, T.B. Shows, C. Junien, R.C. Douté, M.A. FergusonSmith, L.-C. Tsui, M M Le Beau, J.E. Womack, N.E. Simpson, H.S. Chan, J. Ott, S. Povey, S.L. Naylor, M.L. Cavanaugh, T.G. Berent, L.L. Field, M. Smith, B. Keats, C.T. Falk, C.E. Hildebrand, J. Frézal, J. Gelernter, H.-H. Ropers, P.A. Lalley, K.D. Smith, T.H. Roderick, P. Pearson, J. Schmidtke, J.C. Murray, F. Lewitter, J.-C. Kaplan, D.R. Cox, L.C. Stranc, S.L. Sherman, J. Weissenbach, M. Farrall, J.A.M. Graves, D.C. Wallace, J.A. Rogers, K. Kubzdela, M.E. Hawley, T.A. Donlon, and H. Donis-Keller

Subjects
Genetics, Library science, Biology, Molecular Biology, Genetics (clinical)
Published
1989

35. Abstracts of workshop presentations (Part 8 of 16)

Author

Lap-Chee Tsui, J.F. Mattei, J. Weissenbach, H.H. Kazazian, G.A. Bruns, T. Gedde-Dahl, J.J. Wasmuth, J.M. Lalouel, H.H. Ropers, P.L. Pearson, N.E. Morton, J.N. Guidi, Victor A. McKusick, G. Echard, H. Van den Berghe, J.M. Trent, P.J. McAlpine, J.F. Gusella, R.C. Doute, A.Y. Sakaguchi, P.A. Lalley, J.C. Kaplan, Kenneth K. Kidd, C.D. Bloomfield, N. Van Cong, D.P. Doolittle, J.E. Womack, S.J. O'Brien, M.T. Davisson, M. Fellous, Hans Eiberg, Duncan Shaw, B.J.B. Keats, S.L. Naylor, C. Boucheix, K.E. Davies, J.-L. Mandel, T.H. Roderick, T.B. Shows, G.R. Sutherland, A.J. Pakstis, P.M. Conneally, Pierre Maroteaux, N. Créau-Goldberg, D.W. Cox, B. Olaisen, C. Junien, Anne Spence, B. Carritt, Jean Frézal, J.M. Graves, and H.F. Willard

Subjects
Genetics, Computational biology, Biology, Molecular Biology, Data science, Genetics (clinical)
Published
1987

36. Abstracts of workshop presentations (Part 15 of 16)

Author

G. Echard, A.J. Pakstis, P.M. Conneally, Lap-Chee Tsui, N. Van Cong, H. Van den Berghe, B. Olaisen, P.L. Pearson, H.H. Kazazian, Duncan Shaw, S.L. Naylor, Hans Eiberg, J.M. Trent, J.C. Kaplan, G.R. Sutherland, N. Créau-Goldberg, D.W. Cox, M.T. Davisson, T.H. Roderick, J.N. Guidi, S.J. O'Brien, H.H. Ropers, J.F. Mattei, D.P. Doolittle, P.J. McAlpine, J.F. Gusella, H.F. Willard, K.E. Davies, M. Fellous, J.-L. Mandel, R.C. Doute, Victor A. McKusick, T.B. Shows, G.A. Bruns, N.E. Morton, T. Gedde-Dahl, B.J.B. Keats, J.J. Wasmuth, Pierre Maroteaux, J.M. Lalouel, J. Weissenbach, C. Junien, P.A. Lalley, Anne Spence, C. Boucheix, B. Carritt, Jean Frézal, J.M. Graves, C.D. Bloomfield, Kenneth K. Kidd, J.E. Womack, and A.Y. Sakaguchi

Subjects
Genetics, Library science, Biology, Bioinformatics, Molecular Biology, Genetics (clinical)
Published
1987

37. Abstracts of workshop presentations (Part 2 of 16)

Author

J. Weissenbach, Victor A. McKusick, Kenneth K. Kidd, N.E. Morton, J.F. Mattei, H.F. Willard, J.E. Womack, G. Echard, J.M. Trent, P.A. Lalley, G.R. Sutherland, H.H. Kazazian, C. Junien, Anne Spence, J.M. Lalouel, B. Carritt, Jean Frézal, A.J. Pakstis, J.M. Graves, D.P. Doolittle, C. Boucheix, P.L. Pearson, M.T. Davisson, T. Gedde-Dahl, B.J.B. Keats, C.D. Bloomfield, S.J. O'Brien, A.Y. Sakaguchi, G.A. Bruns, P.J. McAlpine, J.F. Gusella, J.J. Wasmuth, Lap-Chee Tsui, M. Fellous, Hans Eiberg, N. Créau-Goldberg, J.N. Guidi, K.E. Davies, J.-L. Mandel, R.C. Doute, H.H. Ropers, B. Olaisen, S.L. Naylor, H. Van den Berghe, N. Van Cong, T.B. Shows, J.C. Kaplan, D.W. Cox, P.M. Conneally, Duncan Shaw, Pierre Maroteaux, and T.H. Roderick

Subjects
Genetics, Computational biology, Biology, Molecular Biology, Data science, Genetics (clinical)
Published
1987

38. Abstracts of workshop presentations (Part 5 of 16)

Author

A.J. Pakstis, N.E. Morton, G. Echard, P.J. McAlpine, J.F. Gusella, H.H. Kazazian, H.F. Willard, C. Junien, D.P. Doolittle, M.T. Davisson, N. Van Cong, S.L. Naylor, Lap-Chee Tsui, G.A. Bruns, Anne Spence, S.J. O'Brien, J.M. Lalouel, K.E. Davies, Pierre Maroteaux, N. Créau-Goldberg, J.N. Guidi, M. Fellous, J.-L. Mandel, A.Y. Sakaguchi, J.F. Mattei, C. Boucheix, T.B. Shows, B. Olaisen, B. Carritt, Jean Frézal, R.C. Doute, T. Gedde-Dahl, J.M. Graves, J. Weissenbach, J.C. Kaplan, Duncan Shaw, Kenneth K. Kidd, J.J. Wasmuth, H.H. Ropers, G.R. Sutherland, C.D. Bloomfield, T.H. Roderick, J.E. Womack, Hans Eiberg, H. Van den Berghe, Victor A. McKusick, P.A. Lalley, P.M. Conneally, P.L. Pearson, J.M. Trent, D.W. Cox, and B.J.B. Keats

Subjects
Genetics, Computational biology, Biology, Molecular Biology, Data science, Genetics (clinical)
Published
1987

39. Index by Keyword

Author

A.L. Hillyard, P.J. McAlpine, D.W. Cox, S. Povey, R.L. Nussbaum, S.L. Naylor, A. Bale, E. Solomon, G. Romeo, F. Ricciuti, D.F. Barker, P.N. Goodfellow, J.A. Rogers, L.L. Field, M.A. Spence, Frank H. Ruddle, H. Donis-Keller, C.E. Hildebrand, K. Kubzdela, M.E. Hawley, T.A. Donlon, T.G. Berent, B.S. Emanuel, M.T. Davisson, O.W. McBride, Kenneth K. Kidd, A.J. Pakstis, S.T. Reeders, R.C. Douté, M M Le Beau, C. Junien, M. Conneally, C. Park, M.A. Pericak-Vance, G.A.P Bruns, L.-C. Tsui, J.J. Wasmuth, N. Creau-Goldberg, M.L. Cavanaugh, L. Giuffra, F. Mitelman, D.C. Wallace, M. Smith, B. Keats, J. Frézal, J. Gelernter, P. Cartwright, R.E. Ferrell, M.A. FergusonSmith, K.D. Smith, S.J. O'Brien, G.L. Schiff, M.L. Mador, N.E. Simpson, Y. Kaneko, G. Hutchings, D.H. Ledbetter, T.H. Roderick, D.T. Bishop, J.M. Trent, B. Carritt, L.C. Stranc, D.P. Doolittle, J.M. Puck, K.K. Kidd, F.H. Ruddle, H.F. Willard, J.E. Womack, J.-L. Mandel, K.E. Davies, A. Schinzel, R.K. Track, S.L. Sherman, C. Boucheix, A.M. Bowcock, D. Ryan, G.R. Sutherland, R.L. Miller, T.B. Shows, P.S. Harper, M. Litt, N.K. Spurr, D.R. Cox, H.-H. Ropers, P. Pearson, F. Lewitter, K.H. Buetow, I.W. Craig, J. Weissenbach, M. Farrall, J. Ott, J.A.M. Graves, P.A. Lalley, J.C. Murray, J.-C. Kaplan, H.S. Chan, C.T. Falk, J. Schmidtke, and W.P. Alles

Subjects
Index (economics), Statistics, Genetics, Biology, Bioinformatics, Molecular Biology, Genetics (clinical)
Published
1989

40. Abstracts of workshop presentations (Part 13 of 16)

Author

Victor A. McKusick, B.J.B. Keats, P.L. Pearson, H.H. Ropers, D.P. Doolittle, P.A. Lalley, J.N. Guidi, Pierre Maroteaux, M.T. Davisson, R.C. Doute, C.D. Bloomfield, K.E. Davies, Lap-Chee Tsui, C. Junien, J.-L. Mandel, G.R. Sutherland, P.M. Conneally, A.J. Pakstis, Anne Spence, T.B. Shows, G.A. Bruns, N. Van Cong, B. Carritt, Jean Frézal, J.C. Kaplan, P.J. McAlpine, J.F. Gusella, J.M. Graves, Kenneth K. Kidd, S.L. Naylor, A.Y. Sakaguchi, C. Boucheix, J.E. Womack, D.W. Cox, N. Créau-Goldberg, Hans Eiberg, H.F. Willard, J. Weissenbach, H. Van den Berghe, Duncan Shaw, B. Olaisen, T.H. Roderick, J.M. Lalouel, G. Echard, N.E. Morton, S.J. O'Brien, M. Fellous, H.H. Kazazian, T. Gedde-Dahl, J.F. Mattei, J.J. Wasmuth, and J.M. Trent

Subjects
Genetics, Library science, Biology, Molecular Biology, Genetics (clinical)
Published
1987

41. Abstracts of workshop presentations (Part 7 of 16)

Author

Duncan Shaw, T.H. Roderick, J.M. Lalouel, N. Van Cong, H.H. Kazazian, H.H. Ropers, Victor A. McKusick, C. Junien, Anne Spence, P.A. Lalley, H.F. Willard, N.E. Morton, A.J. Pakstis, B. Carritt, Jean Frézal, J.M. Graves, C.D. Bloomfield, G.A. Bruns, P.L. Pearson, T. Gedde-Dahl, P.M. Conneally, J.M. Trent, J.F. Mattei, B. Olaisen, Kenneth K. Kidd, S.L. Naylor, J.J. Wasmuth, J. Weissenbach, Lap-Chee Tsui, J.E. Womack, C. Boucheix, D.P. Doolittle, J.N. Guidi, D.W. Cox, N. Créau-Goldberg, G.R. Sutherland, M.T. Davisson, R.C. Doute, K.E. Davies, J.-L. Mandel, T.B. Shows, H. Van den Berghe, J.C. Kaplan, B.J.B. Keats, A.Y. Sakaguchi, P.J. McAlpine, J.F. Gusella, Hans Eiberg, Pierre Maroteaux, S.J. O'Brien, M. Fellous, and G. Echard

Subjects
Genetics, Library science, Biology, Molecular Biology, Genetics (clinical)
Published
1987

42. Abstracts of workshop presentations pp. 1006-1022

Author

A.M. Bowcock, H. Donis-Keller, G.R. Sutherland, J. Weissenbach, P. Pearson, M. Farrall, J.J. Wasmuth, A.J. Pakstis, L. Giuffra, D.W. Cox, F. Lewitter, Frank H. Ruddle, G.A.P Bruns, S. Povey, J.A.M. Graves, S.L. Naylor, M.A. Spence, J.A. Rogers, D.F. Barker, D.C. Wallace, D.R. Cox, J.C. Murray, J.-C. Kaplan, R.K. Track, N.E. Simpson, A.L. Hillyard, C.T. Falk, K.H. Buetow, P. Cartwright, M.A. Pericak-Vance, P.J. McAlpine, Kenneth K. Kidd, M. Smith, B. Keats, S.J. O'Brien, B.S. Emanuel, J. Ott, L.L. Field, H.-H. Ropers, Y. Kaneko, N. Creau-Goldberg, A. Bale, E. Solomon, J.M. Trent, C.E. Hildebrand, F. Ricciuti, H.F. Willard, G. Romeo, M.T. Davisson, C. Boucheix, P.N. Goodfellow, C. Junien, J.E. Womack, K. Kubzdela, M.E. Hawley, T.A. Donlon, S.L. Sherman, L.-C. Tsui, J. Schmidtke, D.H. Ledbetter, P.A. Lalley, D.T. Bishop, M. Conneally, B. Carritt, M.L. Cavanaugh, O.W. McBride, S.T. Reeders, R.C. Douté, P.S. Harper, W.P. Alles, M. Litt, M.A. FergusonSmith, M M Le Beau, H.S. Chan, N.K. Spurr, K.E. Davies, A. Schinzel, G.L. Schiff, T.G. Berent, R.E. Ferrell, J. Frézal, G. Hutchings, J. Gelernter, I.W. Craig, K.D. Smith, J.M. Puck, K.K. Kidd, C. Park, R.L. Nussbaum, L.C. Stranc, T.B. Shows, T.H. Roderick, F.H. Ruddle, D. Ryan, R.L. Miller, M.L. Mador, D.P. Doolittle, F. Mitelman, and J.-L. Mandel

Subjects
Genetics, Library science, Biology, Molecular Biology, Genetics (clinical)
Published
1989

43. Abstracts of workshop presentations (Part 6 of 16)

Author

N. Créau-Goldberg, B. Olaisen, T.B. Shows, Kenneth K. Kidd, H.F. Willard, Hans Eiberg, J.N. Guidi, C. Boucheix, S.J. O'Brien, J.M. Lalouel, H.H. Ropers, T. Gedde-Dahl, J.F. Mattei, J.C. Kaplan, M. Fellous, A.J. Pakstis, G.R. Sutherland, B.J.B. Keats, N. Van Cong, R.C. Doute, M.T. Davisson, Victor A. McKusick, P.L. Pearson, J.J. Wasmuth, Pierre Maroteaux, J.E. Womack, J.M. Trent, P.J. McAlpine, H.H. Kazazian, J.F. Gusella, P.A. Lalley, J. Weissenbach, K.E. Davies, J.-L. Mandel, Lap-Chee Tsui, Duncan Shaw, C.D. Bloomfield, N.E. Morton, T.H. Roderick, G. Echard, H. Van den Berghe, D.P. Doolittle, A.Y. Sakaguchi, G.A. Bruns, S.L. Naylor, C. Junien, Anne Spence, B. Carritt, Jean Frézal, J.M. Graves, D.W. Cox, and P.M. Conneally

Subjects
Genetics, Library science, Biology, Molecular Biology, Genetics (clinical)
Published
1987

44. Abstracts of workshop presentations (Part 1 of 16)

Author

H.H. Ropers, S.L. Naylor, G.R. Sutherland, Victor A. McKusick, Hans Eiberg, J.N. Guidi, Lap-Chee Tsui, J.C. Kaplan, P.A. Lalley, J.M. Lalouel, J. Weissenbach, P.J. McAlpine, C. Junien, J.F. Gusella, C.D. Bloomfield, Anne Spence, Pierre Maroteaux, D.W. Cox, R.C. Doute, B. Carritt, Jean Frézal, A.Y. Sakaguchi, J.M. Graves, N. Van Cong, D.P. Doolittle, Kenneth K. Kidd, M.T. Davisson, A.J. Pakstis, P.M. Conneally, G.A. Bruns, J.E. Womack, H. Van den Berghe, K.E. Davies, J.-L. Mandel, C. Boucheix, T.B. Shows, B.J.B. Keats, N. Créau-Goldberg, Duncan Shaw, S.J. O'Brien, T.H. Roderick, B. Olaisen, M. Fellous, H.F. Willard, H.H. Kazazian, G. Echard, T. Gedde-Dahl, J.J. Wasmuth, J.F. Mattei, N.E. Morton, P.L. Pearson, and J.M. Trent

Subjects
Genetics, Library science, Biology, Bioinformatics, Molecular Biology, Genetics (clinical)
Published
1987

45. Aggregation of plasma Z type alpha 1-antitrypsin suggests basic defect for the deficiency

Author

D.W. Cox, John W. Callahan, and G.D. Billingsley

Subjects
Protein Conformation, Biophysics, medicine.disease_cause, Biochemistry, Inclusion bodies, α1-Antitrypsin deficiencyα1-Antitrypsin aggregationSecretion defect, Structural Biology, alpha 1-Antitrypsin Deficiency, Genetics, medicine, Pi, Humans, Molecular Biology, Mutation, Chemistry, Cell Biology, Plasma, Protein tertiary structure, Protease inhibitor (biology), α1 antitrypsin, Phenotype, alpha 1-Antitrypsin, Salt bridge, medicine.drug
Abstract

The abnormal type of alpha 1-antitrypsin, PI (protease inhibitor) type Z, is associated with inclusion bodies in the liver, which contain non-secreted alpha 1-antitrypsin. Our studies show that Z protein has an inherent tendency to aggregate, even in plasma. Depending upon conditions, from 15 to 70% of the Z protein in plasma was in a high-Mr form, compared with 1.5% of M type alpha 1-antitrypsin. The high-Mr complex in plasma cannot be disaggregated using Triton X detergent or reducing conditions. This increased tendency to aggregate can be explained by the mutation affecting, tertiary structure and salt bridge formation in Z protein. We have observed this same tendency to aggregate for Mmalton alpha 1-antitrypsin, a rarer variant also associated with a plasma deficiency.

Published
1986

46. Report of the committee on the genetic constitution of chromosomes 14 and 15

Author

T. Gedde-Dahl and D.W. Cox

Subjects
Genetics, Chromosomes, Human, Pair 14, Chromosomes, Human, Pair 15, Constitution, Genetic Linkage, Hybridization probe, media_common.quotation_subject, Chromosome Mapping, Biology, Genes, Genetic linkage, Humans, DNA Probes, Molecular Biology, Gene, Genetics (clinical), media_common
Published
1988

47. An autosomal dominant syndrome with 'acromegaloid' features and thickened oral mucosa

Author

H E Hughes, P J McAlpine, D.W. Cox, and S Philipps

Subjects
Adult, Male, medicine.medical_specialty, Pathology, Adolescent, Multiple neuroma, Internal medicine, Acromegaly, Genetics, medicine, Humans, Oral mucosa, Ascher Syndrome, Child, Genetics (clinical), Aged, Genes, Dominant, business.industry, Mouth Mucosa, Syndrome, Middle Aged, medicine.disease, Penetrance, Lip, Pedigree, Facial Expression, Acromegaloid features, Facial appearance, Endocrinology, medicine.anatomical_structure, Phenotype, Child, Preschool, Female, Thickening, Lod Score, business, Research Article
Abstract

A previously undescribed autosomal dominant syndrome has been observed in a large kindred with affected relatives spanning at least five generations. The phenotype is highly variable and appears to show complete penetrance. Affected persons have a progressively coarse, acromegaloid-like facial appearance and thickening of the lips and intraoral mucosa. The differences are discussed between this syndrome and three rather similar syndromes, pachydermoperiostosis, the Ascher syndrome, and multiple neuroma syndrome.

Published
1985

50. Index by Abstract Number

Author

F.H. Ruddle, T.B. Shows, J.E. Womack, D. Ryan, S. Povey, S.L. Naylor, W.P. Alles, A.M. Bowcock, R.L. Miller, A. Bale, E. Solomon, G.R. Sutherland, G. Romeo, T.H. Roderick, C.T. Falk, D.R. Cox, P.N. Goodfellow, P. Cartwright, S.J. O'Brien, J.-L. Mandel, M.L. Mador, L.C. Stranc, Kenneth K. Kidd, H.-H. Ropers, J. Schmidtke, J. Ott, J.M. Trent, D.P. Doolittle, M.A. Pericak-Vance, O.W. McBride, J. Weissenbach, M. Farrall, P. Pearson, A.L. Hillyard, S.T. Reeders, R.C. Douté, P.J. McAlpine, H. Donis-Keller, B.S. Emanuel, K.E. Davies, L.L. Field, M M Le Beau, F. Lewitter, A. Schinzel, F. Ricciuti, J.M. Puck, Y. Kaneko, C.E. Hildebrand, F. Mitelman, J.A.M. Graves, A.J. Pakstis, P.S. Harper, M. Litt, N.K. Spurr, M.T. Davisson, C. Junien, K.K. Kidd, L.-C. Tsui, T.G. Berent, H.S. Chan, J.J. Wasmuth, G.L. Schiff, G.A.P Bruns, P.A. Lalley, L. Giuffra, N. Creau-Goldberg, G. Hutchings, I.W. Craig, S.L. Sherman, M. Conneally, J.C. Murray, J. Frézal, J.-C. Kaplan, D.T. Bishop, K. Kubzdela, M.E. Hawley, T.A. Donlon, D.H. Ledbetter, D.C. Wallace, R.E. Ferrell, B. Carritt, J. Gelernter, M.A. FergusonSmith, K.D. Smith, M.L. Cavanaugh, D.W. Cox, H.F. Willard, M.A. Spence, C. Boucheix, R.K. Track, R.L. Nussbaum, D.F. Barker, Frank H. Ruddle, N.E. Simpson, M. Smith, B. Keats, K.H. Buetow, C. Park, and J.A. Rogers

Subjects
Index (economics), business.industry, Statistics, Genetics, Biology, business, Molecular Biology, Genetics (clinical), Biotechnology
Published
1989

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