Eron, J J, Gorczyca, P, Kaplan, J C, D'Aquila, R T
Polymerase chain reaction (PCR) DNA quantitation (PDQ) susceptibility testing rapidly and directly measures nucleoside sensitivity of human immunodeficiency virus type 1 (HIV-1) isolates. PCR is used...
Hugnot, J P, Gilgenkrantz, H, Vincent, N, Chafey, P, Morris, G E, Monaco, A P, ...
A transcript generated by the distal part of the Duchenne Muscular Dystrophy (DMD) gene was initially detected in cells where the full size 14-kilobase (kb) messenger RNA is not found at a...
Alpha interferon and acyclovir treatment of herpes simplex virus in lymphoid cell cultures.
Hammer, S M, Kaplan, J C, Lowe, B R, Hirsch, M S
The T-lymphoblastoid cell line CEM, persistently infected with herpes simplex virus type 1, has been used to examine the antiviral efficacy of human alpha interferon and acyclovir, both alone and in...
Eron, J J, Chow, Y K, Caliendo, A M, Videler, J, Devore, K M, Cooley, T P, ...
Specific mutations in the human immunodeficiency virus type 1 (HIV-1) pol gene that cause zidovudine (3'-azido-2',3'-dideoxythymidine; AZT) and didanosine (2',3'-dideoxyinosine; ddI) resistance were...
Caliendo, A M, Savara, A, An, D, DeVore, K, Kaplan, J C, D'Aquila, R T
Certain amino acid substitutions in the reverse transcriptase (RT), including D67N, K70R, T215Y, and K219Q, cause high-level resistance of human immunodeficiency virus type 1 (HIV-1) to zidovudine...
Dot immunobinding assay for detection of human immunodeficiency virus-associated antigens.
Blumberg, R S, Hartshorn, K L, Ardman, B, Kaplan, J C, Paradis, T, Vogt, M, ...
The detection of human immunodeficiency virus (HIV)-associated antigens was simplified by the application of dot immunobinding on a nitrocellulose matrix. Antigens were detected by applying the...
Zhang, D, Caliendo, A M, Eron, J J, DeVore, K M, Kaplan, J C, Hirsch, M S, ...
A human immunodeficiency virus type 1 variant resistant to zalcitabine (2',3'-dideoxycytidine [ddC]) was selected by sequential passage in the presence of increasing concentrations of ddC in...
Illegitimate transcription: transcription of any gene in any cell type.
Chelly, J, Concordet, J P, Kaplan, J C, Kahn, A
Using in vitro amplification of cDNA by the polymerase chain reaction, we have detected spliced transcripts of various tissue-specific genes (genes for anti-Müllerian hormone, beta-globin, aldolase...
Matsumura, K, Burghes, A H, Mora, M, Tomé, F M, Morandi, L, Cornello, F, ...
The absence of dystrophin causes the drastic reduction of the dystrophin-associated proteins (DAPs) in the sarcolemma and the loss of the linkage between the subsarcolemmal cytoskeleton and the...
Matsumura, K, Tomé, F M, Ionasescu, V, Ervasti, J M, Anderson, R D, Romero, N B, ...
Dystrophin, the protein product of the Duchenne muscular dystrophy (DMD) gene, is a cytoskeletal protein tightly associated with a large oligomeric complex of sarcolemmal glycoproteins including...
Chelly, J, Gilgenkrantz, H, Hugnot, J P, Hamard, G, Lambert, M, Récan, D, ...
We have previously demonstrated that there is a low level of transcription of tissue-specific genes in every cell type. In this study, we have taken advantage of this phenomenon, called illegitimate...
Sébillon, P, Beldjord, C, Kaplan, J C, Brody, E, Marie, J
In a patient with a beta-thalassemia intermedia, a mutation was identified in the second intron of the human beta-globin gene. The U-->G mutation is located within the polypyrimidine tract at...
Modification of enzymatically amplified DNA for the detection of point mutations.
Haliassos, A, Chomel, J C, Tesson, L, Baudis, M, Kruh, J, Kaplan, J C, ...
Anderson, M L, Szajnert, M F, Kaplan, J C, McColl, L, Young, B D
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....
Lambda Ig constant region genes are translocated to chromosome 8 in Burkitt's lymphoma with t(8;22).
Lenoir, G, Boué, J, Boué, A, Gallano, P, Huerre, C, ...
By in situ hybridization of normal human chromosomes with a cloned genomic probe specific for the constant region of the lambda immunoglobulin genes, band 22q11 was preferentially labelled. In two...
A highly informative CACA repeat polymorphism upstream of the human dystrophin gene (DMD)
Hugnot, J.P., Récan, D., Jeanpierre, M., Kaplan, J.C., Tolun, A.
Maximizing sensitivity and specificity of PCR by pre-amplification heating.
D'Aquila, R T, Bechtel, L J, Videler, J A, Eron, J J, Gorczyca, P, Kaplan, J C
Haliassos, A, Chomel, J C, Grandjouan, S, Kruh, J, Kaplan, J C, Kitzis, A
The detection of point mutations correlated with diseases, in enzymatically amplified DNA sequences (Polymerase Chain Reaction), is currently performed by digestion of PCR products when an existing...
Szajnert, M F, Saule, S, Bornkamm, G W, Wajcman, H, Lenoir, G M, Kaplan, J C
We have examined the restriction map of the c-myc gene in 15 BL cell lines carrying the variant t(8;22) translocation in which c-myc is known to remain on chromosome 8. Using 3 restriction enzymes...
Human type I procollagen genes are located on different chromosomes.
Huerre, C, Junien, C, Weil, D, Chu, M L, Morabito, M, Van Cong, N, ...
A recombinant plasmid containing sequences complementary to human pro-alpha l(I) collagen mRNA was used for the chromosomal assignment of the pro-alpha l(I) collagen gene. Restriction endonuclease...
Gacon, G, Lostanlen, D, Labie, D, Kaplan, J C
In erythrocytes the reduction of oxidized hemoglobin (methemoglobin) is dependent upon an electron transport reaction between cytochrome b5 and methemoglobin. These two proteins are believed to form...
Rakusanova, T, Kaplan, J C, Smales, W P, Black, P H
Simian virus 40-transformed hamster cells were induced to produce infectious virus by treatment with mitomycin C or gamma-irradiation. A portion of the simian virus-40 DNA, which is integrated into...
Lostanlen, D, Lenoir, G, Kaplan, J C
Recessive congenital methemoglobinemia (RCM) is due to the homozygous deficiency of NADH-cytochrome b5 reductase (EC 1.6.2.2.). In type I disease, in which the patients are only methemoglobinemic,...
Choury, D, Leroux, A, Kaplan, J C
In this study we present evidence that in human erythrocytes NADH-cytochrome b5 reductase (methemoglobin reductase) is not only soluble but also tightly bound to the membrane. The membrane...
Matsumura, K, Nonaka, I, Tomé, F M, Arahata, K, Collin, H, Leturcq, F, ...
The dystrophin-glycoprotein complex spans the sarcolemma to provide a linkage between the subsarcolemmal cytoskeleton and the extracellular matrix in skeletal muscle. In Duchenne muscular dystrophy...
The red-green visual pigment gene region in adrenoleukodystrophy.
Aubourg, P, Feil, R, Guidoux, S, Kaplan, J C, Moser, H, Kahn, A, ...
Although recent data established that a specific very-long-chain fatty acyl-CoA synthetase is defective in X-linked adrenoleukodystrophy (ALD), the ALD gene is still unidentified. The ALD locus has...
The genes coding for A alpha-, B beta-, and gamma-chains of fibrinogen map to 4q2.
Henry, I, Uzan, G, Weil, D, Nicolas, H, Kaplan, J C, Marguerie, C, ...
We used cloned cDNA probes for the A alpha-, B beta-, and gamma-chains of human fibrinogen and Southern blotting techniques to analyze DNA from a series of rodent X human somatic cell hybrids for the...
Junien, C, Weil, D, Myers, J C, Van Cong, N, Chu, M L, Foubert, C, ...
A cDNA for the pro alpha 2 chain of human type I collagen has been recently cloned and amplified. We have used this specific probe to identify the human chromosome carrying the pro alpha 2(I)...
Eron, J J, Gorczyca, P, Kaplan, J C, D'Aquila, R T
Polymerase chain reaction (PCR) DNA quantitation (PDQ) susceptibility testing rapidly and directly measures nucleoside sensitivity of human immunodeficiency virus type 1 (HIV-1) isolates. PCR is used...
Hugnot, J P, Gilgenkrantz, H, Vincent, N, Chafey, P, Morris, G E, Monaco, A P, ...
A transcript generated by the distal part of the Duchenne Muscular Dystrophy (DMD) gene was initially detected in cells where the full size 14-kilobase (kb) messenger RNA is not found at a...
Alpha interferon and acyclovir treatment of herpes simplex virus in lymphoid cell cultures.
Hammer, S M, Kaplan, J C, Lowe, B R, Hirsch, M S
The T-lymphoblastoid cell line CEM, persistently infected with herpes simplex virus type 1, has been used to examine the antiviral efficacy of human alpha interferon and acyclovir, both alone and in...
Eron, J J, Chow, Y K, Caliendo, A M, Videler, J, Devore, K M, Cooley, T P, ...
Specific mutations in the human immunodeficiency virus type 1 (HIV-1) pol gene that cause zidovudine (3'-azido-2',3'-dideoxythymidine; AZT) and didanosine (2',3'-dideoxyinosine; ddI) resistance were...
Caliendo, A M, Savara, A, An, D, DeVore, K, Kaplan, J C, D'Aquila, R T
Certain amino acid substitutions in the reverse transcriptase (RT), including D67N, K70R, T215Y, and K219Q, cause high-level resistance of human immunodeficiency virus type 1 (HIV-1) to zidovudine...
Dot immunobinding assay for detection of human immunodeficiency virus-associated antigens.
Blumberg, R S, Hartshorn, K L, Ardman, B, Kaplan, J C, Paradis, T, Vogt, M, ...
The detection of human immunodeficiency virus (HIV)-associated antigens was simplified by the application of dot immunobinding on a nitrocellulose matrix. Antigens were detected by applying the...
Zhang, D, Caliendo, A M, Eron, J J, DeVore, K M, Kaplan, J C, Hirsch, M S, ...
A human immunodeficiency virus type 1 variant resistant to zalcitabine (2',3'-dideoxycytidine [ddC]) was selected by sequential passage in the presence of increasing concentrations of ddC in...
Illegitimate transcription: transcription of any gene in any cell type.
Chelly, J, Concordet, J P, Kaplan, J C, Kahn, A
Using in vitro amplification of cDNA by the polymerase chain reaction, we have detected spliced transcripts of various tissue-specific genes (genes for anti-Müllerian hormone, beta-globin, aldolase...
Matsumura, K, Burghes, A H, Mora, M, Tomé, F M, Morandi, L, Cornello, F, ...
The absence of dystrophin causes the drastic reduction of the dystrophin-associated proteins (DAPs) in the sarcolemma and the loss of the linkage between the subsarcolemmal cytoskeleton and the...
Matsumura, K, Tomé, F M, Ionasescu, V, Ervasti, J M, Anderson, R D, Romero, N B, ...
Dystrophin, the protein product of the Duchenne muscular dystrophy (DMD) gene, is a cytoskeletal protein tightly associated with a large oligomeric complex of sarcolemmal glycoproteins including...
Chelly, J, Gilgenkrantz, H, Hugnot, J P, Hamard, G, Lambert, M, Récan, D, ...
We have previously demonstrated that there is a low level of transcription of tissue-specific genes in every cell type. In this study, we have taken advantage of this phenomenon, called illegitimate...
Sébillon, P, Beldjord, C, Kaplan, J C, Brody, E, Marie, J
In a patient with a beta-thalassemia intermedia, a mutation was identified in the second intron of the human beta-globin gene. The U-->G mutation is located within the polypyrimidine tract at...
Modification of enzymatically amplified DNA for the detection of point mutations.
Haliassos, A, Chomel, J C, Tesson, L, Baudis, M, Kruh, J, Kaplan, J C, ...
Anderson, M L, Szajnert, M F, Kaplan, J C, McColl, L, Young, B D
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....
Lambda Ig constant region genes are translocated to chromosome 8 in Burkitt's lymphoma with t(8;22).
Lenoir, G, Boué, J, Boué, A, Gallano, P, Huerre, C, ...
By in situ hybridization of normal human chromosomes with a cloned genomic probe specific for the constant region of the lambda immunoglobulin genes, band 22q11 was preferentially labelled. In two...
A highly informative CACA repeat polymorphism upstream of the human dystrophin gene (DMD)
Hugnot, J.P., Récan, D., Jeanpierre, M., Kaplan, J.C., Tolun, A.
Maximizing sensitivity and specificity of PCR by pre-amplification heating.
D'Aquila, R T, Bechtel, L J, Videler, J A, Eron, J J, Gorczyca, P, Kaplan, J C
Haliassos, A, Chomel, J C, Grandjouan, S, Kruh, J, Kaplan, J C, Kitzis, A
The detection of point mutations correlated with diseases, in enzymatically amplified DNA sequences (Polymerase Chain Reaction), is currently performed by digestion of PCR products when an existing...
Szajnert, M F, Saule, S, Bornkamm, G W, Wajcman, H, Lenoir, G M, Kaplan, J C
We have examined the restriction map of the c-myc gene in 15 BL cell lines carrying the variant t(8;22) translocation in which c-myc is known to remain on chromosome 8. Using 3 restriction enzymes...
Human type I procollagen genes are located on different chromosomes.
Huerre, C, Junien, C, Weil, D, Chu, M L, Morabito, M, Van Cong, N, ...
A recombinant plasmid containing sequences complementary to human pro-alpha l(I) collagen mRNA was used for the chromosomal assignment of the pro-alpha l(I) collagen gene. Restriction endonuclease...
Gacon, G, Lostanlen, D, Labie, D, Kaplan, J C
In erythrocytes the reduction of oxidized hemoglobin (methemoglobin) is dependent upon an electron transport reaction between cytochrome b5 and methemoglobin. These two proteins are believed to form...
Rakusanova, T, Kaplan, J C, Smales, W P, Black, P H
Simian virus 40-transformed hamster cells were induced to produce infectious virus by treatment with mitomycin C or gamma-irradiation. A portion of the simian virus-40 DNA, which is integrated into...
Lostanlen, D, Lenoir, G, Kaplan, J C
Recessive congenital methemoglobinemia (RCM) is due to the homozygous deficiency of NADH-cytochrome b5 reductase (EC 1.6.2.2.). In type I disease, in which the patients are only methemoglobinemic,...
Choury, D, Leroux, A, Kaplan, J C
In this study we present evidence that in human erythrocytes NADH-cytochrome b5 reductase (methemoglobin reductase) is not only soluble but also tightly bound to the membrane. The membrane...
Matsumura, K, Nonaka, I, Tomé, F M, Arahata, K, Collin, H, Leturcq, F, ...
The dystrophin-glycoprotein complex spans the sarcolemma to provide a linkage between the subsarcolemmal cytoskeleton and the extracellular matrix in skeletal muscle. In Duchenne muscular dystrophy...
The red-green visual pigment gene region in adrenoleukodystrophy.
Aubourg, P, Feil, R, Guidoux, S, Kaplan, J C, Moser, H, Kahn, A, ...
Although recent data established that a specific very-long-chain fatty acyl-CoA synthetase is defective in X-linked adrenoleukodystrophy (ALD), the ALD gene is still unidentified. The ALD locus has...
The genes coding for A alpha-, B beta-, and gamma-chains of fibrinogen map to 4q2.
Henry, I, Uzan, G, Weil, D, Nicolas, H, Kaplan, J C, Marguerie, C, ...
We used cloned cDNA probes for the A alpha-, B beta-, and gamma-chains of human fibrinogen and Southern blotting techniques to analyze DNA from a series of rodent X human somatic cell hybrids for the...
Junien, C, Weil, D, Myers, J C, Van Cong, N, Chu, M L, Foubert, C, ...
A cDNA for the pro alpha 2 chain of human type I collagen has been recently cloned and amplified. We have used this specific probe to identify the human chromosome carrying the pro alpha 2(I)...
A linkage and physical map of chromosome 22, and some applications to gene mapping.
Julier, C, Lathrop, G M, Reghis, A, Szajnert, M F, Lalouel, J M, Kaplan, J C
A genetic map of human chromosome 22 has been derived from physical assignments and multilocus linkage analysis. It consists of the loci for the immunoglobulin lambda light-chain variable (IGLV) and...
Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene.
Bienvenu, T, Beldjord, C, Fonknechten, N, Kaplan, J C, Lenoir, G
Kaplan, J C, Aurias, A, Julier, C, Prieur, M, Szajnert, M F
The acrocentric chromosome 22, one of the shortest human chromosomes, carries about 52 000 kb of DNA. The short arm is made up essentially of heterochromatin and, as in other acrocentric chromosomes,...