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1. Effect of trace carbon on the uv-induced behavior of aluminum nitride ceramics

Author

Rosario A. Gerhardt and J.C. Kaplan

Subjects
Materials science, Mechanical Engineering, Analytical chemistry, chemistry.chemical_element, Nitride, Condensed Matter Physics, Oxygen, chemistry, Mechanics of Materials, Absorption band, Photodarkening, General Materials Science, Dielectric loss, Irradiation, Composite material, Absorption (electromagnetic radiation), Carbon
Abstract

The effect of uv irradiation on the material properties of AlN containing low oxygen content (

Published
1994

2. Expression of the transcripts initiated in the 62nd intron of the dystrophin gene

Author

Glenn E. Morris, Annette Koulakoff, Axel Kahn, Jean-Philippe Hugnot, Yoheved Berwald-Netter, Philippe Chafey, Martine Lambert, Hélène Gilgenkrantz, J.C. Kaplan, and C. Billard

Subjects
Brain development, Transcription, Genetic, Molecular Sequence Data, Gene Expression, Biology, Polymerase Chain Reaction, Muscular Dystrophies, Dystrophin, Animals, Humans, Lymphocytes, Child, Promoter Regions, Genetic, Genetics (clinical), DNA Primers, Base Sequence, Lymphoblast, Intron, A protein, Promoter, Molecular biology, Dystrophin gene, Introns, Rats, Real-time polymerase chain reaction, Liver, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Gene Deletion
Abstract

The pattern of expression of two distal transcripts initiated in the 62nd intron of the dystrophin gene was investigated under different circumstances: (i) during the development of different rat tissues these transcripts and Dp 71, a protein encoded by one of them, increased with brain development and decreased with muscle development; (ii) in cultured glial and neuronal cells, the distal promoter was coactivated with tissue-specific upstream promoters, the muscle-type promoter in glial cells and the brain-type promoter in neuronal cells, which suggests that activity of the upstream promoter does not interfere with activity of the distal promoter; (iii) in lymphoblasts of DMD patients with various deletions of the dystrophin gene, the most distal of which included the 56th intron, the production of the distal transcript was not perturbed.

Published
1993

3. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

Author

Alain Carrié, H. Collin, D. Recan, A. Reghis, F. Leturcq, Fernando M.S. Tomé, Cherif Beldjord, J.C. Kaplan, M. Chaouch, F. El Kerch, Luciano Merlini, Steven L. Roberds, Abdelaziz Sefiani, Jacques S. Beckmann, Michel Fardeau, Bruno Eymard, Kevin P. Campbell, Marc Jeanpierre, F. Piccolo, Norma B. Romero, K. Azibi, and Thomas Voit

Subjects
Male, Models, Molecular, Adolescent, Protein Conformation, Molecular Sequence Data, Genes, Recessive, Biology, Severity of Illness Index, Muscular Dystrophies, Dystrophin, Sarcoglycans, Genetics, medicine, Humans, Point Mutation, Missense mutation, Muscular dystrophy, Child, SGCA, Chromosome 13, Membrane Glycoproteins, Base Sequence, medicine.disease, Cytoskeletal Proteins, Sarcoglycanopathy, Child, Preschool, biology.protein, Female, Age of onset, Sarcoglycanopathies
Abstract

Marked deficiency of muscle adhalin, a 50 kDa sarcolemmal dystrophin-associated glycoprotein, has been reported in severe childhood autosomal recessive muscular dystrophy (SCARMD). This is a Duchenne-like disease affecting both males and females first described in Tunisian families. Adhalin deficiency has been found in SCARMD patients from North Africa Europe, Brazil, Japan and North America (SLR & KPC, unpublished data). The disease was initially linked to an unidentified gene on chromosome 13 in families from North Africa, and to the adhalin gene itself on chromosome 17q in one French family in which missense mutations were identified. Thus there are two kinds of myopathies with adhalin deficiency: one with a primary defect of adhalin (primary adhalinopathies), and one in which absence of adhalin is secondary to a separate gene defect on chromosome 13. We have examined the importance of primary adhalinopathies among myopathies with adhalin deficiency, and describe several additional mutations (null and missense) in the adhalin gene in 10 new families from Europe and North Africa. Disease severity varies in age of onset and rate of progression, and patients with null mutations are the most severely affected.

Published
1995

6. Expression of the Dystrophin Gene in Cultured Fibroblasts

Author

Axel Kahn, Hélène Gilgenkrantz, Philippe Chafey, J.C. Kaplan, Jean-Philippe Hugnot, Mireille Lambert, Eric Eveno, Institut Cochin (UMR_S567 / UMR 8104), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)

Subjects
musculoskeletal diseases, Cerebellum, congenital, hereditary, and neonatal diseases and abnormalities, Ratón, RNA Splicing, [SDV]Life Sciences [q-bio], Molecular Sequence Data, Biophysics, Gene Expression, Polymerase Chain Reaction, Biochemistry, Cell Line, Dystrophin, Mice, Exon, Utrophin, Gene expression, medicine, Animals, Humans, RNA, Messenger, Fibroblast, Molecular Biology, Cells, Cultured, Brain Chemistry, Base Sequence, biology, Muscles, DNA, Cell Biology, Fibroblasts, musculoskeletal system, Molecular biology, medicine.anatomical_structure, Cell culture, biology.protein
Abstract

International audience; The dystrophin whose defect is responsible for Duchenne and Becker muscular dystrophies is present in muscle, brain and cerebellum. We describe here the detection of dystrophin in human cultured skin fibroblasts, L809 cells and murine 3T6 cell line. Dystrophin transcripts initiated at the muscle specific first exon can also be amplified by cDNA-PCR from various fibroblastic cells. The expression of the dystrophin gene in fibroblasts could account for some abnormalities observed in patient's fibroblast cultures.

Published
1993

7. Positive and negative regulatory DNA elements including a CCArGG box are involved in the cell type-specific expression of the human muscle dystrophin gene

Author

Axel Kahn, Philippe Chafey, Mireille Lambert, Jean-Philippe Hugnot, Hélène Gilgenkrantz, and J.C. Kaplan

Subjects
Transcriptional Activation, Molecular Sequence Data, Muscle Proteins, E-box, Biology, Regulatory Sequences, Nucleic Acid, Transfection, Biochemistry, Polymerase Chain Reaction, Dystrophin, Mice, Gene expression, Myocyte, Animals, Humans, Promoter Regions, Genetic, Molecular Biology, Gene, Transcription factor, MyoD Protein, Reporter gene, Base Sequence, Myogenesis, Muscles, Nuclear Proteins, Cell Biology, DNA, Molecular biology, Rats, Blotting, Southern, Gene Expression Regulation, Regulatory sequence, Chromosome Deletion, Plasmids
Abstract

The muscle-specific promoter of the dystrophin gene is active in skeletal, cardiac, and smooth muscles and is specifically stimulated during differentiation of myoblasts into multinucleated myotubes. An 850-base pair (bp) DNA fragment upstream from the cap site is able to confer a partial muscle specificity to a reporter gene. The region between -850 and -140 bp includes nonspecific negative and positive regulatory sequences. A continuous stretch of 140 bp upstream from the cap site exhibits a striking conservation between rodents and human (93% homology) and still retains muscle preference of expression. It contains two putative binding sites for factors involved in regulation of other muscle-specific genes, a CCArGG box and an E box. This latter element, however, is unable to confer the ability to be transactivated by MyoD1 to the dystrophin promoter. The -140-bp promoter fragment exhibits antagonist effects contributed by one inhibiting sequence (nucleotide -140/-96), active in all cell types, and one activating region, from nucleotide -96 to the cap site, sufficient to confer a muscle preference of expression, in which the CCArGG box seems to play a major role.

Published
1992

11. Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia

Author

F. Marlhens, Jamel Chelly, Bernard Dutrillaux, D. Lefrançois, J. P. Harpey, and J.C. Kaplan

Subjects
Genetic Markers, Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, X Chromosome, Duchenne muscular dystrophy, Locus (genetics), In situ hybridization, Glycerol Kinase, Genetics, medicine, Humans, Muscular dystrophy, Genetics (clinical), biology, Phosphotransferases, Infant, Newborn, Glycerol kinase deficiency, DNA, medicine.disease, Molecular biology, Chromosome Banding, Karyotyping, Congenital adrenal hypoplasia, Cancer research, biology.protein, Creatine kinase, DAX1, Chromosome Deletion, Polymorphism, Restriction Fragment Length, Adrenal Insufficiency
Abstract

Congenital adrenal hypoplasia (CAH) and glycerol kinase deficiency (GKD) were diagnosed in a male during the neonatal period. On prometaphase chromosomes there was an interstitial deletion involving Xp21.2 and possibly Xp21.3 in the propositus and his mother. Duchenne muscular dystrophy (DMD) was excluded on the basis of normal serum creatine kinase and a muscle biopsy. Molecular hybridization of DNA from the propositus with 11 probes covering Xp21, including the DMD locus, was normal. In situ hybridization with the probe pERT87.15 showed a normal signal at the expected site indicating that the DMD locus was preserved and not translocated. This suggests that the DMD locus is located at the most proximal part of the sub-band Xp21.2 or in Xp21.1, and that the DXS68 (probe L1) is far from it on the distal flanking DNA.

Published
1987

12. 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

13. Analysis of molecular deletions with cDNA probes in patients with Duchenne and Becker muscular dystrophies

Author

G.J.B. van Ommen, Jamel Chelly, Hélène Gilgenkrantz, D. Recan, J.-C. Barbot, Martine Lambert, and J.C. Kaplan

Subjects
Adult, Electrophoresis, musculoskeletal diseases, Genetics, Adolescent, Hybridization probe, DNA Mutational Analysis, Breakpoint, Intron, Exons, Biology, Molecular biology, Introns, Muscular Dystrophies, Blotting, Southern, Exon, Complementary DNA, Humans, Coding region, Chromosome Deletion, Child, DNA Probes, Gene
Abstract

In the course of a systematic survey of DMD and BMD patients with intronic probes and with cDNA probes covering three-fourths of the coding sequence, 45 molecular deletions within the DMD gene were investigated. Forty-two percent of the breakpoints were located in the intronic sequence containing probe P20, whereas the other deletions were widespread around the more proximal part of the gene. Most of the BMD deletions were in the P20 region. Pulsed field gel electrophoresis was used to determine the size of some deletions and allowed us to estimate the physical distance between the intronic probes JBir and P20. The reading frame was checked in 11 cases with proximal deletions and found to be disrupted in 6 of 7 DMD patients, in 1 intermediate case, and, unexpectedly, in 3 BMD patients.

Published
1989

14. 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

15. 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

16. 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

17. Congenital Methemoglobin- Reductase (Cytochrome b5 Reductase) Deficiency Associated with Mental Retardation in a Spanish Girl

Author

A. Pujades, J.M. Corretger, E. Vela, A. Leroux, J.L. Vives-Corrons, and J.C. Kaplan

Subjects
chemistry.chemical_classification, medicine.medical_specialty, business.industry, media_common.quotation_subject, Hematology, General Medicine, Methemoglobinemia, medicine.disease, Methemoglobin Reductase, Cytochrome b5 reductase activity, Enzyme, Endocrinology, chemistry, Spanish Origin, Internal medicine, medicine, Girl, business, Cytochrome b5 reductase, media_common
Abstract

Methemoglobinemia and mental retardation associated with NADH-diaphorase deficiency was found in a 2-year-old girl of Spanish origin. She showed no NADH-diaphorase activity in either erythrocytes or leukocytes, but electrophoretic studies of the hemolysate showed traces of an enzyme with normal mobility. Cytochrome b5 reductase activity was also found to be absent in the leukocytes of the propositus. Intermediate NADH-diaphorase activity was found in erythrocytes and leukocytes in her parents and her sister in accordance with the autoso-mal recessive mode of inheritance of this enzymopathy. The relationship between a generalized cytochrome b5 reductase deficiency and the progressive neurological involvement in our patient is discussed briefly.

Published
1978

18. 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

19. The isolation of a human Ig Vλ gene from a recombinant library of chromosome 22 and estimation of its copy number

Author

Marie-France Szajnert, L. McColl, J.C. Kaplan, B.D. Young, and M.L.M. Anderson

Subjects
Genetics, Polymorphism, Genetic, Base Sequence, Sequence analysis, DNA, Recombinant, Immunoglobulin Variable Region, Nucleic Acid Hybridization, Locus (genetics), DNA, DNA Restriction Enzymes, Biology, Molecular biology, Homology (biology), Molecular Weight, Nucleic acid thermodynamics, Genes, Complementary DNA, Chromosomes, Human, 21-22 and Y, Humans, Coding region, Cloning, Molecular, Peptide sequence, Gene
Abstract

We report the first isolation and characterisation of a human Ig V lambda gene. The gene was isolated from a recombinant phage library of human chromosome 22 using a mouse Ig lambda cDNA as probe. DNA sequence analysis predicts a short leader peptide interrupted by an intron of 88 nucleotides, and a mature polypeptide of 96-97 amino acids which shares 61% homology with mouse V lambda I chains. Comparison with the amino acid sequence of known human lambda chains of all six subgroups shows agreement at 22/25 low variance positions. However the maximum homology with human chains is 49%, so we conclude that this sequence represents a new IgV lambda subgroup. The coding region is followed by the conserved heptamer, CACAGTG, and nonamer, ACATAAACC, sequences which have been implicated in V-J segment recombination. This gene has the hallmarks of an active V lambda gene including recently identified transcriptional controlling sequences. Probing genomic DNA with the subcloned V lambda gene detects a family of about 10 cross hybridizing members at low stringency and 2 at high stringency. There is limited polymorphism of the V lambda locus.

Published
1984

20. 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

21. Contents, Vol. 59, 1978

Author

Meir Djaldetti, B Graziani, C. Focan, Luan Eng Lie-Injo, J.L. Vives-Corrons, D. Benjamin, I Bianco, A. Pujades, D. Douer, E. Silvestroni, G. Barabash, E. Vela, J. Ganesan, Claudio Carboni, A. Leroux, J.M. Corretger, Pinkhas J, J.C. Kaplan, M.L. Beaumariage, and Abraham Weinberger

Subjects
Hematology, General Medicine
Published
1978

22. 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

23. 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

24. 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

25. Index rerum ad , Vol. 59, 1978

Author

Luan Eng Lie-Injo, B Graziani, C. Focan, I Bianco, A. Pujades, J. Ganesan, D. Douer, Meir Djaldetti, J.M. Corretger, D. Benjamin, E. Silvestroni, G. Barabash, J.L. Vives-Corrons, Claudio Carboni, Pinkhas J, E. Vela, A. Leroux, M.L. Beaumariage, J.C. Kaplan, and Abraham Weinberger

Subjects
Hematology, General Medicine
Published
1978

26. 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

27. 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

28. 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

29. 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

30. 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

31. 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

32. 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

33. Congenital Enzymopenic Methaemoglobinaemia

Author

Labie D, A. Mast, R. Krishnamoorthy, C. Junien, R. Milo, J.C. Kaplan, Wajcman H, and Alena Leroux

Subjects
medicine.medical_specialty, Dihydrolipoamide dehydrogenase, business.industry, Isoelectric focusing, education, Hematology, General Medicine, medicine.disease, Endocrinology, Spinal osteoarthropathy, Internal medicine, medicine, NADH diaphorase deficiency, business
Abstract

Three brothers with congenital recessive methaemoglobinaemia without mental retardation were found to be homozygous for NADH diaphorase deficiency. Twelve family members were heterozygous. One of the

Published
1976

34. Prospects of therapy for infections with human T-lymphotropic virus type III

Author

J.C. Kaplan and Michelle S. Hirsch

Subjects
Foscarnet, Antimony, Phosphonoacetic Acid, Urology, Suramin, medicine.medical_treatment, Lactams, Macrocyclic, Alpha interferon, Virus Replication, Antiviral Agents, Deltaretrovirus, Virus, Tungsten, chemistry.chemical_compound, Acquired immunodeficiency syndrome (AIDS), Ribavirin, Internal Medicine, Medicine, Humans, RNA Processing, Post-Transcriptional, Acquired Immunodeficiency Syndrome, business.industry, Ansamycin, General Medicine, Immunotherapy, Tungsten Compounds, medicine.disease, Virology, Combined Modality Therapy, Anti-Bacterial Agents, Clinical trial, chemistry, Viral replication, Immunology, RNA, Viral, Receptors, Virus, Reverse Transcriptase Inhibitors, Interferons, business, medicine.drug
Abstract

Human T-lymphotropic virus type III is susceptible to attack at various sites during its replicative cycle. Inhibitors of reverse transcriptase activity, including suramin, antimoniotungstate (HPA-23), and trisodium phosphonoformate, have shown in-vitro activity against the virus in early clinical trials. Other significant antiviral agents are recombinant interferon alpha-A, ribavirin, and ansamycin. Double-blind, placebo-controlled clinical trials of interferon alpha, which inhibits viral replication at easily achievable serum levels, are underway. The development of optimal therapeutic regimens will require carefully controlled, multicenter collaborative trials with standardized criteria for evaluating responses. Prolonged treatment with combinations of antiviral and immunomodulating agents may be necessary for control of HTLV-III replication and for effective treatment of the acquired immunodeficiency syndrome.This article outlines steps in the development of antiviral drugs, with particular emphasis on therapeutic regimens for infections with human T-lymphotropic virus type III (HTLV-III). Inhibitors of reverse transcriptase activity, including suramin, antimoniotungstate (HPA-23), and trisodium phosphonorformate have shown in vitro activity against HTLV-III in early clinical trials. Other significant antiviral agents are recombinant interferon alpha-A, ribavirin, and ansamycin. Recent evidence suggests that antibodies to envelope protein, gp120, may be essential for neutralization. Combinations of antiviral agents may prove additive or synergistic, eg, interferons plus reverse transcriptase inhibitors or interferons plus ribavirin. Alternating, sequential antiviral regimens may be useful in reducing resistance and toxicity. However, antiviral agents will not be effective without additonal immunostimulatory therapy for viral control and immune reconstitution.

Published
1985

36. De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy

Author

Jamel Chelly, Ghislaine Hamard, Marc Jeanpierre, F. Marlhens, Bernard Dutrillaux, Martine Lambert, B. Le Marec, and J.C. Kaplan

Subjects
Genetic Markers, X Chromosome, Adolescent, Duchenne muscular dystrophy, Turner Syndrome, Locus (genetics), Biology, Muscular Dystrophies, Turner syndrome, Genetics, medicine, Humans, Allele, Genetics (clinical), X chromosome, Southern blot, Karyotype, DNA, medicine.disease, Molecular biology, Chromosome Banding, Genetic marker, Karyotyping, Female, Chromosome Deletion, Polymorphism, Restriction Fragment Length
Abstract

The single X chromosome of a girl with Turner syndrome (45,X) and typical Duchenne muscular dystrophy was investigated at the chromosomal and DNA levels. No visible abnormality of the residual X chromosome was found upon high-resolution R-banding. The DNA was analysed by Southern blotting and hybridization with seven cloned probes mapping in the Xp21 region where the Duchenne locus is thought to be located. A molecular deletion was detected with probes pERT 87.1, pERT 87.8, and pERT 87.15. The other probes (754, C7, 99.6, and RC8) gave a normal signal. The DNA alleles seen in the two parents indicated that the deletion found in the propositus had occurred de novo on a maternal X chromosome.

Published
1986

37. Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia

Author

Jamel Chelly, F. Marlhens, Michel Fardeau, Bernard Dutrillaux, Martine Lambert, G.J.B. van Ommen, J.C. Kaplan, G. Boissinot, and B. Haioun

Subjects
musculoskeletal diseases, Genetic Markers, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Heterozygote, X Chromosome, Duchenne muscular dystrophy, Muscular Dystrophies, Internal medicine, Glycerol Kinase, Genetics, medicine, Humans, Muscular dystrophy, Child, Genetics (clinical), X chromosome, Southern blot, biology, Adrenal hypoplasia, Phosphotransferases, Chromosome Mapping, Glycerol kinase deficiency, Karyotype, medicine.disease, Chromosome Banding, Endocrinology, Congenital adrenal hypoplasia, Karyotyping, biology.protein, Female, Chromosome Deletion, Polymorphism, Restriction Fragment Length, Adrenal Insufficiency
Abstract

We report a case of a boy with Duchenne muscular dystrophy (DMD) associated with GK deficiency (GK), congenital adrenal hypoplasia (AHC), and mental retardation. Cytogenetic analysis of prometaphasic chromosomes revealed an interstitial chromosome deletion at Xp21.2 possibly extending to Xp21.1 or Xp21.3. His phenotypically normal mother was heterozygous for this deletion. DNA probe analysis on Southern blots showed that the deletion affected the following probe sites: 754, pERT 84, 21A, XJ2.3, pERT 87, JBir, and J66-H1, whereas L1, C7, and CX5.4 probes gave a normal signal. Pulse field gel electrophoresis after SfiI digestion did not show abnormal fragments with L1. These data are consistent with a deletion of about 4 megabases and indicate that the GK and AHC loci are proximal to L1 and distal to J66-H1.

Published
1988

38. Enzymes involved in the early stages of repair of ultraviolet-irradiated DNA

Author

J.C. Kaplan, I. Mahler, S.R. Kushner, and L. Grossman

Subjects
DNA, Bacterial, Genetics, Microbial, Phosphoric monoester hydrolases, Ultraviolet Rays, Biology, medicine.disease_cause, Biochemistry, Micrococcus, chemistry.chemical_compound, Genetics, medicine, Escherichia coli, Radiation Genetics, Molecular Biology, chemistry.chemical_classification, Mutation, Deoxyribonucleases, Nucleotides, Phosphorus Isotopes, Darkness, Phosphoric Monoester Hydrolases, Thymine, Radiation Effects, Enzyme, chemistry, Nucleic acid, DNA
Published
1968

39. Index autorum ad Vol. 59

Author

D. Benjamin, Abraham Weinberger, Meir Djaldetti, J.L. Vives-Corrons, C. Focan, D. Douer, M.L. Beaumariage, J. Ganesan, J.C. Kaplan, Pinkhas J, J.M. Corretger, E. Silvestroni, G. Barabash, Luan Eng Lie-Injo, I Bianco, B Graziani, A. Pujades, E. Vela, A. Leroux, and Claudio Carboni

Subjects
Index (economics), Statistics, Hematology, General Medicine, Mathematics
Published
1978

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