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CreatorTitleDescriptionSubjectDate
1 Rogers, Alan R.; Harpending, Henry C.Genetic structure of ancient human populationsDiscusses mitochondrial DNA (mtDNA) sequences as important source of data about the history of human species.Tree of descent; Mismatch distributions; Simulations; Findings; Intermatch distributions; Younger and older populations2001-09-15
2 Bernstein, Paul S.; Leppert, Mark F.Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblingsPURPOSE: Single-copy variants of the autosomal recessive Stargardt disease (STGD1) gene ABCR (ABCA4) have been shown to confer enhanced susceptibility to age-related macular degeneration (AMD). To investigate the role of ABCR alleles in AMD further, genotype-phenotype analysis was performed on sibli...DNA Mutational Analysis; Nuclear Family; Phenotype2002
3 Rogers, Alan R.; Jorde, Lynn B.Origins and affinities of modern humans: a comparison of mitochondrial and nuclear genetic dataTo test hypotheses about the origin of modern humans, we analyzed mtDNA sequences, 30 nuclear restriction-site polymorphisms (RSPs), and 30 tetranucleotide short tandem repeat (STR) polymorphisms in 243 Africans, Asians, and Europeans. An evolutionary tree based on mtDNA displays deep African branch...Base Sequence; Variation (Genetics); Base Sequence1995
4 Rogers, Alan R.How much can fossils tell us about regional continuity?Presents a study on the genetic contribution of earlier populations to later populations within regions called regional continuity. Testing for regional continuity with multiple characters; Replacement of archaic population by a population of modern humans.Human genetics; Fossils; Regional continuity2006-06-05
5 Gouw, Launce G.; McKenna, Catherine K.; Digre, Kathleen B.; Placek, Louis J.Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission.The gene for spinocerebellar ataxia 7 (SCA7) includes a transcribed, translated CAG tract that is expanded in SCA7 patients. We have determined expansions in 73 individuals from 17 SCA7 kindreds and compared them with repeat lengths of 180 unaffected individuals. Subjects with abnormal expansions co...Genetics; Biosynthesis; SCA7 Gene1998-03-07
6 Rogers, Alan R.; Jorde, Lynn B.Ascertainment bias in estimates of average heterozygosityPopulation geneticists work with a nonrandom sample of the human genome. Conventional practice ensures that unusually variable loci are most likely to be discovered and thus included in the sample of loci. Consequently, estimates of average heterozygosity are biased upward. In what follows we descri...Bias (Epidemiology); Biometry; Heterozygote1996-05
7 Capecchi, Mario R.Introduction: the molecular genetic analysis of mouse developmentThis paper is an introduction of seven different papers presented in "Seminars in developmental biology" on Molecular Genetic Analysis of Mouse Development . The first paper, by Janet Rossant, describes very early mouse development. The second paper, by Frank Conlon and Rosa Beddington provide an i...Embryo Culture Techniques; Genes1995-04
8 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
9 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
10 Digre, Kathleen B.; Gouw, Launce G.; Harris, Catherine P.; Haines, John H.; Ptacek, L.J.Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred.The autosomal dominant cerebellar ataxias (ADCA) comprise a heterogeneous group of neurologic disorders characterized by degeneration of the cerebellum, spinal cord, and brainstem. Genetic analysis has revealed two loci, SCA1 on chromosome 6p, and SCA2 on chromosome 12q, responsible for some ADCA. W...Retinal Degeneration; Cerebellar Ataxia; Genetic Analysis1994-08
11 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
12 Capecchi, Mario R.Hoxb13 mutations cause overgrowth of caudal spinal cord and tail vertebraeTo address the expression and function of Hoxb13, the 5' most Hox gene in the HoxB cluster, we have generated mice with loss-of-function and beta-galactosidase reporter insertion alleles of this gene. Mice homozygous for Hoxb13 loss-of-function mutations show overgrowth in all major structures deriv...Animals; Axons; Ganglia, Spinal; Mice; Spinal Cord2003-04-15
13 Gesteland, Raymond F.; Baranov, Pavel V.; Atkins, John F.Expression levels influence ribosomal frameshifting at the tandem rare arginine codons AGG_AGG and AGA_AGA in Escherichia coliABSTRACT: The rare codons AGG and AGA comprise 2% and 4%, respectively, of the arginine codons of Escherichia coli K-12, and their cognate tRNAs are sparse. At tandem occurrences of either rare codon, the paucity of cognate aminoacyl tRNAs for the second codon of the pair facilitates peptidyl-tRNA...Gene expression; Frameshifting; E. coli; Arginine codons2005
14 Capecchi, Mario R.Housekeeping gene xanthine oxidoreductase is necessary for milk fat droplet enveloping and secretion: gene sharing in the lactating mammary gland.Xanthine oxidoreductase (XOR) is the rate-limiting enzyme in purine catabolism occurring in most cell types. However, this housekeeping gene is expressed at very high levels in a number of mammalian tissues including the lactating mammary epithelium, suggesting additional roles for XOR in these tiss...Body Weight; Cell Differentiation; Cell Membrane; Epithelium2002-12-15
15 Jorde, Lynn B.Clinical and biochemical function of polymorphic NR0B1 GGAA-microsatellites in Ewing sarcoma: A report from the Childrens Oncology GroupBackground: The genetics involved in Ewing sarcoma susceptibility and prognosis are poorly understood. EWS/FLI and related EWS/ETS chimeras upregulate numerous gene targets via promoter-based GGAA-microsatellite response elements. These microsatellites are highly polymorphic in humans, and prelimina...2014-01-01
16 Gesteland, Raymond F.; Atkins, John F.; Baranov, Pavel V.Diverse bacterial genomes encode an operon of two genes, one of which is an unusual class-I release factor that potentially recognizes atypical mRNA signals other than normal stop codonsABSTRACT: Background: While all codons that specify amino acids are universally recognized by tRNA molecules, codons signaling termination of translation are recognized by proteins known as class-I release factors (RF). In most eukaryotes and archaea a single RF accomplishes termination at all three...Class-I release factors; RF1; RF2; Bacterial genomes2006
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