TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. (2001)
Merscher, S., Funke, B., Epstein, J.A., Heyer, J., Puech, A., Lu, M.M., ...
Cell, 104(2001) S.619-29
Reduced isotype switching in splenic B cells from mice deficient in mismatch repair enzymes (1999)
Schrader, Carol E., Edelmann, W., Kucherlapati, R., Stavnezer, Janet
Mice deficient in various mismatch repair (MMR) enzymes were examined to determine whether this repair pathway is involved in antibody class switch recombination. Splenic B cells from mice deficient...
Saint-Jore, B, Puech, A, Heyer, J, Lin, Q, Raine, C, Kucherlapati, R, ...
Neuronal abnormalities in microtubule-associated protein 1B mutant mice.
Edelmann, W, Zervas, M, Costello, P, Roback, L, Fischer, I, Hammarback, J A, ...
Microtubules play an important role in establishing cellular architecture. Neuronal microtubules are considered to have a role in dendrite and axon formation. Different portions of the developing and...
Mice develop normally without the H1(0) linker histone.
Sirotkin, A M, Edelmann, W, Cheng, G, Klein-Szanto, A, Kucherlapati, R, Skoultchi, A I
H1 histones bind to the linker DNA between nucleosome core particles and facilitate the folding of chromatin into a 30-nm fiber. Mice contain at least seven nonallelic subtypes of H1, including the...
The murine N-ras gene is not essential for growth and development.
Umanoff, H, Edelmann, W, Pellicer, A, Kucherlapati, R
The mammalian ras gene family encodes key cell-signaling, cell growth-related proteins that have been highly conserved in species from yeast to man. Specific point mutations in the ras genes are...
An integrated approach for identifying and mapping human genes.
Das Gupta, R, Morrow, B, Marondel, I, Parimoo, S, Goei, V L, Gruen, J, ...
We have developed a method for generating expressed-sequence maps of human chromosomes. The method involves several steps that begin with libraries of highly representative short cDNAs prepared by...
Organization of the human skeletal myosin heavy chain gene cluster.
Yoon, S J, Seiler, S H, Kucherlapati, R, Leinwand, L
Myosin is an important structural and enzymatic component of skeletal muscle. Multiple myosin isoforms are encoded by a multigene family and are expressed in different developmental stages and fiber...
A dominant positive and negative selectable gene for use in mammalian cells.
Schwartz, F, Maeda, N, Smithies, O, Hickey, R, Edelmann, W, Skoultchi, A, ...
We have constructed three different fusion genes containing the herpes simplex virus thymidine kinase (HSV tk) and the bacterial neomycin phosphotransferase (neo) genes. All three fusion genes...
Construction of a mammalian transducing vector from the genome of Moloney murine leukemia virus.
Gilboa, E, Kolbe, M, Noonan, K, Kucherlapati, R
A 0.9-kilobase DNA fragment from the genome of Moloney murine leukemia virus, including the viral long terminal repeat, was covalently linked to the herpes simplex virus I thymidine kinase (tk) gene...
Accurate modification of a chromosomal plasmid by homologous recombination in human cells.
Song, K Y, Schwartz, F, Maeda, N, Smithies, O, Kucherlapati, R
We have examined the consequences of modifying mammalian cellular DNA sequences by homologous recombination. A plasmid carrying a 248-base-pair deletion in the neomycin phosphotransferase (neo) gene...
Unequal homologous recombination of human DNA on a yeast artificial chromosome.
Campbell, C, Marondel, I, Montgomery, K, Krauter, K, Kucherlapati, R
We examined unequal homologous DNA recombination between human repetitive DNA elements located on a yeast artificial chromosome (YAC) and transforming plasmid molecules. A plasmid vector containing...
Lee, Hyoungnam, Choi, Eunkyung, Seomun, Young, Montgomery, K., Huebner, A., Lee, Eunice, ...
For those searching for human disease-causing genes, information on the position of genes with respect to genetic markers is essential. The physical map composed of ESTs and genetic markers provides...
Sequence homology requirements for intermolecular recombination in mammalian cells.
Ayares, D, Chekuri, L, Song, K Y, Kucherlapati, R
We have examined the homology requirements for intermolecular recombination between plasmids introduced into human, monkey, and bacterial cells. Variable-size-deletion derivatives of the...
Another chromosomal assignment for a simian virus 40 integration site in human cells.
Kucherlapati, R, Hwang, S P, Shimizu, N, McDougall, J K, Botchan, M R
Somatic cell hybrids derived from fusion of GM637, a human cell line transformed by simian virus 40, and mouse B82 cells were examined for simian virus 40 T antigen, V antigen, and viral DNA. All...
Davies, R L, Grosse, V A, Kucherlapati, R, Bothwell, M
Purified murine epidermal growth factor (EGF) binds to mouse and human cells. Two mouse transformed cell lines of different origins, PG19 and B82, were found to lack EGF receptors (EGFR). The defect...
Cotransfer of circular and linear prokaryotic and eukaryotic DNA sequences into mouse cells.
Hsiung, N, Warrick, H, DeRiel, J K, Tuan, D, Forget, B G, Skoultchi, A, ...
We have attempted to introduce some eukaryotic and prokaryotic DNA sequences into mouse fibroblasts. Purified herpes thymidine kinase gene (tk) was introduced into mouse cells. The presence of the...
Repair of single-stranded DNA nicks, gaps, and loops in mammalian cells.
Ayares, D, Ganea, D, Chekuri, L, Campbell, C R, Kucherlapati, R
We studied the ability of mammalian cells to repair single-stranded nicks, gaps, and loops in DNA duplexes. Heteroduplexes prepared from derivatives of the shuttle vector pSV2neo were introduced into...
Characterization of an ATP-dependent DNA strand transferase from human cells.
Ganea, D, Moore, P, Chekuri, L, Kucherlapati, R
We have characterized an enzymatic activity from human cell nuclei which is capable of catalyzing strand exchange between homologous DNA sequences. The strand exchange activity was Mg2+ dependent and...
Effect of double-strand breaks on homologous recombination in mammalian cells and extracts.
Song, K Y, Chekuri, L, Rauth, S, Ehrlich, S, Kucherlapati, R
We examined the effect of double-strand breaks on homologous recombination between two plasmids in human cells and in nuclear extracts prepared from human and rodent cells. Two pSV2neo plasmids...
Introduction and expression of a fetal human globin gene in mouse fibroblasts.
Hsiung, N, Roginski, R S, Henthorn, P, Smithies, O, Kucherlapati, R, Skoultchi, A I
An 8.5-kilobase segment of cloned human DNA including the complete G gamma-globin gene was introduced into LMTK- cells by the calcium phosphate precipitation method in the presence or absence of...
Rauth, S, Song, K Y, Ayares, D, Wallace, L, Moore, P D, Kucherlapati, R
We have examined the ability of single-stranded DNA to participate in homologous recombination reactions in mammalian cells and nuclear extracts derived from them. We have inserted a fragment of the...
Gilbert, F, Kucherlapati, R, Creagan, R P, Murnane, M J, Darlington, G J, Ruddle, F H
The techniques of somatic cell genetics have been used to establish the linkage relationships of loci coding for two forms (A and B) of hexosaminidase (EC 3.2.1.30;...
Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.
Carlson, C, Sirotkin, H, Pandita, R, Goldberg, R, McKie, J, Wadey, R, ...
Velo-cardio-facial syndrome (VCFS) is a relatively common developmental disorder characterized by craniofacial anomalies and conotruncal heart defects. Many VCFS patients have hemizygous deletions...
Neuronal abnormalities in microtubule-associated protein 1B mutant mice.
Edelmann, W, Zervas, M, Costello, P, Roback, L, Fischer, I, Hammarback, J A, ...
Microtubules play an important role in establishing cellular architecture. Neuronal microtubules are considered to have a role in dendrite and axon formation. Different portions of the developing and...
Mice develop normally without the H1(0) linker histone.
Sirotkin, A M, Edelmann, W, Cheng, G, Klein-Szanto, A, Kucherlapati, R, Skoultchi, A I
H1 histones bind to the linker DNA between nucleosome core particles and facilitate the folding of chromatin into a 30-nm fiber. Mice contain at least seven nonallelic subtypes of H1, including the...
The murine N-ras gene is not essential for growth and development.
Umanoff, H, Edelmann, W, Pellicer, A, Kucherlapati, R
The mammalian ras gene family encodes key cell-signaling, cell growth-related proteins that have been highly conserved in species from yeast to man. Specific point mutations in the ras genes are...
An integrated approach for identifying and mapping human genes.
Das Gupta, R, Morrow, B, Marondel, I, Parimoo, S, Goei, V L, Gruen, J, ...
We have developed a method for generating expressed-sequence maps of human chromosomes. The method involves several steps that begin with libraries of highly representative short cDNAs prepared by...
Organization of the human skeletal myosin heavy chain gene cluster.
Yoon, S J, Seiler, S H, Kucherlapati, R, Leinwand, L
Myosin is an important structural and enzymatic component of skeletal muscle. Multiple myosin isoforms are encoded by a multigene family and are expressed in different developmental stages and fiber...
A dominant positive and negative selectable gene for use in mammalian cells.
Schwartz, F, Maeda, N, Smithies, O, Hickey, R, Edelmann, W, Skoultchi, A, ...
We have constructed three different fusion genes containing the herpes simplex virus thymidine kinase (HSV tk) and the bacterial neomycin phosphotransferase (neo) genes. All three fusion genes...
Construction of a mammalian transducing vector from the genome of Moloney murine leukemia virus.
Gilboa, E, Kolbe, M, Noonan, K, Kucherlapati, R
A 0.9-kilobase DNA fragment from the genome of Moloney murine leukemia virus, including the viral long terminal repeat, was covalently linked to the herpes simplex virus I thymidine kinase (tk) gene...
Accurate modification of a chromosomal plasmid by homologous recombination in human cells.
Song, K Y, Schwartz, F, Maeda, N, Smithies, O, Kucherlapati, R
We have examined the consequences of modifying mammalian cellular DNA sequences by homologous recombination. A plasmid carrying a 248-base-pair deletion in the neomycin phosphotransferase (neo) gene...
Unequal homologous recombination of human DNA on a yeast artificial chromosome.
Campbell, C, Marondel, I, Montgomery, K, Krauter, K, Kucherlapati, R
We examined unequal homologous DNA recombination between human repetitive DNA elements located on a yeast artificial chromosome (YAC) and transforming plasmid molecules. A plasmid vector containing...
Lee, Hyoungnam, Choi, Eunkyung, Seomun, Young, Montgomery, K., Huebner, A., Lee, Eunice, ...
For those searching for human disease-causing genes, information on the position of genes with respect to genetic markers is essential. The physical map composed of ESTs and genetic markers provides...
Sequence homology requirements for intermolecular recombination in mammalian cells.
Ayares, D, Chekuri, L, Song, K Y, Kucherlapati, R
We have examined the homology requirements for intermolecular recombination between plasmids introduced into human, monkey, and bacterial cells. Variable-size-deletion derivatives of the...
Another chromosomal assignment for a simian virus 40 integration site in human cells.
Kucherlapati, R, Hwang, S P, Shimizu, N, McDougall, J K, Botchan, M R
Somatic cell hybrids derived from fusion of GM637, a human cell line transformed by simian virus 40, and mouse B82 cells were examined for simian virus 40 T antigen, V antigen, and viral DNA. All...
Davies, R L, Grosse, V A, Kucherlapati, R, Bothwell, M
Purified murine epidermal growth factor (EGF) binds to mouse and human cells. Two mouse transformed cell lines of different origins, PG19 and B82, were found to lack EGF receptors (EGFR). The defect...
Cotransfer of circular and linear prokaryotic and eukaryotic DNA sequences into mouse cells.
Hsiung, N, Warrick, H, DeRiel, J K, Tuan, D, Forget, B G, Skoultchi, A, ...
We have attempted to introduce some eukaryotic and prokaryotic DNA sequences into mouse fibroblasts. Purified herpes thymidine kinase gene (tk) was introduced into mouse cells. The presence of the...
Repair of single-stranded DNA nicks, gaps, and loops in mammalian cells.
Ayares, D, Ganea, D, Chekuri, L, Campbell, C R, Kucherlapati, R
We studied the ability of mammalian cells to repair single-stranded nicks, gaps, and loops in DNA duplexes. Heteroduplexes prepared from derivatives of the shuttle vector pSV2neo were introduced into...
Characterization of an ATP-dependent DNA strand transferase from human cells.
Ganea, D, Moore, P, Chekuri, L, Kucherlapati, R
We have characterized an enzymatic activity from human cell nuclei which is capable of catalyzing strand exchange between homologous DNA sequences. The strand exchange activity was Mg2+ dependent and...
Effect of double-strand breaks on homologous recombination in mammalian cells and extracts.
Song, K Y, Chekuri, L, Rauth, S, Ehrlich, S, Kucherlapati, R
We examined the effect of double-strand breaks on homologous recombination between two plasmids in human cells and in nuclear extracts prepared from human and rodent cells. Two pSV2neo plasmids...
Introduction and expression of a fetal human globin gene in mouse fibroblasts.
Hsiung, N, Roginski, R S, Henthorn, P, Smithies, O, Kucherlapati, R, Skoultchi, A I
An 8.5-kilobase segment of cloned human DNA including the complete G gamma-globin gene was introduced into LMTK- cells by the calcium phosphate precipitation method in the presence or absence of...
Rauth, S, Song, K Y, Ayares, D, Wallace, L, Moore, P D, Kucherlapati, R
We have examined the ability of single-stranded DNA to participate in homologous recombination reactions in mammalian cells and nuclear extracts derived from them. We have inserted a fragment of the...
Gilbert, F, Kucherlapati, R, Creagan, R P, Murnane, M J, Darlington, G J, Ruddle, F H
The techniques of somatic cell genetics have been used to establish the linkage relationships of loci coding for two forms (A and B) of hexosaminidase (EC 3.2.1.30;...
Molecular analysis of velo-cardio-facial syndrome patients with psychiatric disorders.
Carlson, C, Papolos, D, Pandita, R K, Faedda, G L, Veit, S, Goldberg, R, ...
Velo-cardio-facial syndrome (VCFS) is characterized by conotruncal cardiac defects, cleft palate, learning disabilities, and characteristic facial appearance and is associated with hemizygous...
Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.
Carlson, C, Sirotkin, H, Pandita, R, Goldberg, R, McKie, J, Wadey, R, ...
Velo-cardio-facial syndrome (VCFS) is a relatively common developmental disorder characterized by craniofacial anomalies and conotruncal heart defects. Many VCFS patients have hemizygous deletions...
Engle, E C, Marondel, I, Houtman, W A, De Vries, B, Loewenstein, A, Lazar, M, ...
Congenital fibrosis of the extraocular muscles (CFEOM) is an autosomal dominant syndrome of congenital external ophthalmoplegia and bilateral ptosis. We previously reported linkage of this disorder...
Liedtke, W., Edelmann, W., Chiu, F. C., Kucherlapati, R., Raine, C. S.
Insights into the role of the astrocyte intermediate filament protein, glial fibrillary acidic protein (GFAP), have only recently emerged with reports on subtle abnormalities in GFAP-deficient mice,...