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1 Capecchi, Mario R.Removing the vertebrate-specific TBP N terminus disrupts placental beta2m-dependent interactions with the maternal immune systemMammalian TBP consists of a 180 amino acid core that is common to all eukaryotes, fused to a vertebrate-specific N-terminal domain. We generated mice having a modified tbp allele, tbp(DeltaN), that produces a version of TBP lacking 111 of the 135 vertebrate-specific amino acids. Most tbp(DeltaN/Delt...Alleles; Animals, Genetically Modified; Binding Sites; Embryonic and Fetal Development; Evolution, Molecular; Female; Fetus; Immune Tolerance; Male; Mice; Mutation; ATA-Box Binding Protein2002-07-12
2 Capecchi, Mario R.Paralogous mouse Hox genes, Hoxa9, Hoxb9, and Hoxd9, function together to control development of the mammary gland in response to pregnancy.Although the role of Hox genes in patterning the mammalian body plan has been studied extensively during embryonic and fetal development, relatively little is known concerning Hox gene function in adult animals. Analysis of mice with mutant Hoxa9, Hoxb9, and Hoxd9 genes shows that these paralogous g...Embryonic and Fetal Development; Gene Expression Regulation, Developmental; Genotype; Mice, Knockout1999-01
3 Thomas, Kirk R.; Capecchi, Mario R.Introduction of homologous DNA sequences into mammalian cells induces mutations in the cognate gene.Injection of homologous DNA sequences into nuclei of cultured mammalian cells induces mutations in the cognate chromosomal gene. It appears that these mutations result from incorrect repair of a heteroduplex formed between the introduced and the chromosomal sequence. This phenomenon is termed 'heter...Animals; Cell Line; Drug Resistance, Microbial; Fibroblasts; Mice; Models, Genetic; Neomycin; Plasmids1986-11-06
4 Capecchi, Mario R.Gene targeting. How efficient can you get?With targeting in Leishmania and Trypanosoma, there are now greater incentives to develop the technology in organisms of intermediate complexity such as Caenorhabditis elegans and Drosophila. The ratio of homologous to nonhomologus recombination in these organisms might prove to be greater than in m...Animals; DNA Mutational Analysis; Recombination, Genetic1990-11-08
5 Capecchi, Mario R.Hoxb8 is required for normal grooming behavior in mice.Repertoires of grooming behaviors critical to survival are exhibited by most animal species, including humans. Genes that influence this complex behavior are unknown. We report that mice with disruptions of Hoxb8 show, with 100% penetrance, excessive grooming leading to hair removal and lesions. Add...Aging; Alleles; Animals, Newborn; Behavior, Animal; Bone and Bones; Disease Models, Animal; Mice, Knockout Nerve Net2002-01-03
6 Capecchi, Mario R.Purification and characterization of mouse hypoxanthine-guanine phosphoribosyltransferase.Hypoxanthine-guanine phosphoribosyltransferase (HGPR transferase) (EC 2.4.2.8) has been purified approximately 4500-fold to apparent homogeneity from mouse liver. The procedure involves the use of affinity chromatography and was designed to be readily adaptable to small scale isolations. The enzyme ...Buffers; Centrifugation, Density Gradient; Chromatography, Affinity; Chromatography, Gel; Chromatography, Ion Exchange; Electrophoresis, Polyacrylamide Gel1975-01-31
7 Capecchi, Mario R.Polypetide chain termination. Purification of the release factors, R1 and R2, from Escherichia coli.We have extensively purified the release factors RI and Rz from Escherichia coli. These proteins can each mediate polypeptide chain termination. The physiological substrate for this reaction is a completed polypeptide chain in a peptidyl- transfer RNA-messenger RNA-ribosome complex. The reaction con...Acrylates; Detergents1971-02-25
8 Thomas, Kirk R.; Capecchi, Mario R.Nonreciprocal exchanges of information between DNA duplexes coinjected into mammalian. cell nucleiWe have examined the mechanism of homologous recombination between plasmid molecules coinjected into cultured mammalian cells. Cell lines containing recombinant DNA molecules were obtained by selecting for the reconstruction of a functional Neor gene from two plasmids that bear different amber mutat...Animals; Cells, Cultured; DNA Restriction Enzymes; Kinetics1985-01
9 Capecchi, Mario R.Duplication of the Hoxd11 gene causes alterations in the axial and appendicular skeleton of the mouse.The Hox genes encode a group of transcription factors essential for proper development of the mouse. Targeted mutation of the Hoxd11 gene causes reduced male fertility, vertebral transformation, carpal bone fusions, and reductions in digit length. A duplication of the Hoxd11 gene was created with th...Animals; Bone Development; Forelimb; Gene Expression Regulation, Developmental2002-09-01
10 Capecchi, Mario R.Establishment of mammalian cell lines containing multiple nonsense mutations and functional suppressor tRNA genes.We describe the generation of mammalian cell lines carrying amber suppressor genes. Nonsense mutants in the herpes simplex virus thymidine kinase (HSV tk) gene, the Escherichia coli xanthine-guanine phosphoribosyl transferase (Eco-gpt) gene and the aminoglycoside 3' phosphotransferase gene of the Tn...Cercopithecus aethiops; Escherichia coli; Xenopus1982-11-30
11 Capecchi, Mario R.Characterization of three proteins involved in polypeptide chain termination.At each stage of elongation, the growing polypeptide chain is bound to the ribosome-messenger RNA complex through the transfer RNA of the most recently incorporated amino acid residue. When the chain is complete, the last polypeptide-transfer RNA (tuna) ester linkage is cleaved, releasing the chain ...Anti-Bacterial Agents; Phenylalanine; Stimulation, Chemical1969
12 Thomas, Kirk R.; Capecchi, Mario R.High-fidelity gene targeting in embryonic stem cells by using sequence replacement vectors.Mutations were targeted to the Hprt locus in murine embryonic stem cells by using sequence replacement vectors. When the vector was designed such that the mutated sequences were flanked on both sides by several kilobases of DNA homologous to the target locus, replacement of chromosomal sequences wit...Drug Resistance; Gene Rearrangement; Gentamicins1992-07
13 Capecchi, Mario R.Expression of a microinjected porcine class I major histocompatibility complex gene in transgenic mice.A porcine class I major histocompatibility complex (SLA) gene has been introduced into the genome of a C57BL/10 mouse. This transgenic mouse expressed SLA antigen on its cell surfaces and transmitted the gene to offspring, in which the gene is also expressed. Skin grafts of such transgenic mice were...Genetic Engineering; Graft Rejection; Mice, Inbred C57BL1985-05-03
14 Gussin, Gary N.; Capecchi, Mario R.Protein synthesis directed by DNA phage messengers.Even through the amino acids corresponding to most of the 64 nucleotide triplets are now known, several important aspects of the genetic code are not yet fully understood. In particular we need more knowledge about the "punctuation marks" of the code-for example, the signals necessary for the initia...Carbon Isotopes; Escherichia coli; Genetic Code; Methionine1967-09-01
15 Capecchi, Mario R.Patterns of integration of DNA microinjected into cultured mammalian cells: evidence for homologous recombination between injected plasmid DNA molecules.We examined the fate of DNA microinjected into nuclei of cultured mammalian cells. The sequence composition and the physical form of the vector carrying the selectable gene affected the efficiency of DNA-mediated transformation. Introduction of sequences near the simian virus 40 origin of DNA replic...Base Sequence; Cell Line; Genes, Viral; Genetic Vectors; Mice; Microinjections1982-11
16 Capecchi, Mario R.Developmental defects of the ear, cranial nerves and hindbrain resulting from targeted disruption of the mouse homeobox gene Hox-1.6.Gene targeting in mouse embryo-derived stem cells has been used to generate mice with a disruption in the homeobox gene Hox-1.6. Mice heterozygous at the Hox-1.6 locus appear normal, whereas Hox-1.6-/Hox-1.6- mice die at or shortly after birth. These homozygotes exhibit profound defects in the forma...Chromosome Mapping; Genetic Vectors; Mice, Inbred C57BL2002-06-27
17 Capecchi, Mario R.Hox group 3 paralogs regulate the development and migration of the thymus, thyroid, and parathyroid glands.The thymus, thyroid, and parathyroid glands in vertebrates develop from the pharyngeal region, with contributions both from pharyngeal endoderm and from neural crest cells in the pharyngeal arches. Hoxa3 mutant homozygotes have defects in the development of all three organs. Roles for the Hoxa3 para...Animals, Newborn; Calcitonin; Ectoderm; Gene Dosage; Genotype; Mice, Mutant Strains; Phenotype1998-03-01
18 Kerber, Richard A.A genome-wide study replicates linkage of 3p22-24 to extreme longevity in humans and identifies possible additional lociBackground: Although there is abundant evidence that human longevity is heritable, efforts to map loci responsible for variation in human lifespan have had limited success. Methodology/Principal Findings: We identified individuals from a large multigenerational population database (the Utah Populati...2012-01-01
19 Kerber, Richard A.Mitochondrial genomic analysis of late onset alzheimers disease reveals protective haplogroups H6A1A/H6A1B: the Cache County study on memory in agingBackground: Alzheimer's disease (AD) is the most common cause of dementia and AD risk clusters within families. Part of the familial aggregation of AD is accounted for by excess maternal vs. paternal inheritance, a pattern consistent with mitochondrial inheritance. The role of specific mitochondrial...2012-01-01
20 Capecchi, Mario R.Targeted disruption of the even-skipped gene, evx1, causes early postimplantation lethality of the mouse conceptus.Implantation within the mammalian uterus elicits dramatic changes in the growth, differentiation, and morphogenesis of the conceptus. This process is interrupted in mice carrying a targeted disruption of the murine evx1 gene, a homolog of the Drosophila even-skipped (eve) gene. Upon implantation, pr...Extraembryonic; Homozygotes; Drosophila1994-08-15
21 Capecchi, Mario R.; Bernstein, Kenneth E.; Thomas, Kirk R.Targeting genes for self-excision in the germ lineA procedure is described that directs the self-induced deletion of DNA sequences as they pass through the male germ line of mice. The testes-specific promoter from the angiotensin-converting enzyme gene was used to drive expression of the Cre-recombinase gene. Cre was linked to the selectable marker...Cre-recombinase; Hoxa3; Chimeric mice1999-06-15
22 Capecchi, Mario R.Lessons from angiotensin-converting enzyme-deficient mice.Mice which lack ACE have low systolic blood pressure, reduced male fertility and a renal abnormality characterized by medullary hypoplasia and the inability to concentrate urine. The diverse phenotypes caused by inactivation of a single gene emphasize the many functional roles of ACE and the renin-q...Blood Pressure; Cell Line;Fertility; Kidney; Testis1991-11-01
23 Moon, Ann M.; Capecchi, Mario R.Roles of Fgf4 and Fgf8 in limb bud initiation and outgrowth.Although numerous molecules required for limb bud formation have recently been identified, the molecular pathways that initiate this process and ensure that limb formation occurs at specific axial positions have yet to be fully elucidated. Based on experiments in the chick, Fgf8 expression in the in...Animals; Apoptosis; Forelimb; Gene Expression Regulation, Developmental; High Mobility Group Proteins; Hindlimb; In Situ Hybridization; Mesoderm; Mice, Mutant Strains; Trans-Activators2004-09
24 Capecchi, Mario R.Hoxc13 mutant mice lack external hairHox genes are usually expressed temporally and spatially in a colinear manner with respect to their positions in the Hox complex. Consistent with the expected pattern for a paralogous group 13 member, early embryonic Hoxc13 expression is found in the nails and tail. Hoxc13 is also expressed in vibri...Filiform papillae; Homozygotes; Paralogous1998-01-01
25 Capecchi, Mario R.Hox10 and Hox11 genes are required to globally pattern the mammalian skeleton.Mice in which all members of the Hox10 or Hox11 paralogous group are disrupted provide evidence that these Hox genes are involved in global patterning of the axial and appendicular skeleton. In the absence of Hox10 function, no lumbar vertebrae are formed. Instead, ribs project from all posterior ve...Alleles; Animals; Forelimb; Gene Expression Regulation, Developmental; Hindlimb2003-07-18
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