bluuebunny/crossref_metadata_2025_split huggingface dataset:
The HGAR1 familial hypercholesterolemia pedigree
Authors: Bailey‐Wilson Joan E. , Elston Robert C. 
Published: June 2005

AbstractData on 232 members of a single pedigree, descended from two pairs of original parents, were made available to the participants of Genetic Analysis Workshop 8 (GAW8). In addition to information concerning age and sex, measurements for 10 quantitative traits and genotypes at 22 polymorphic marker loci were also provided for a subset of 193 of these family members. © 1993 Wiley‐Liss, Inc.
A genetic and environmental time series analysis of blood pressure in male twins
Authors: Colletto Gloria M. D. D. , Cardon Lon R. , Fulker David W. 
Published: June 2005

AbstractSystolic and diastolic blood pressures were measured on 254 monozygotic (MZ) and 260 dizygotic (DZ) male twin pairs, during middle age (average age 48 years) and at two later age points. Genetic and environmental components of covariation were modeled by time series. For both measures, shared environmental influences were absent and specific environmental influences were largely time‐specific. Although heritability was about 0.5 at each time point, genetic variation present at middle age contributed only about 60% to that present 9 years later, the remaining 40% being new. Fifteen years later, at the third time point, no new genetic variation was evident, variation in individual differences being entirely attributable to genetic differences laid down at the two earlier ages. © 1993 Wiley‐Liss, Inc.
Correlation analysis of twin data with repeated measures based on generalized estimating equations
Authors: Grove John S. , Zhao Lue Ping , Quiaoit Filemon 
Published: June 2005

AbstractRepeated measures allow additional tests of common assumptions in twin correlation analysis. Analysis of log serum triglyceride level in NHLBI male twins using generalized estimating equations disclosed that the mean and variance shifted across exams, presumably because of changes in laboratory practice. © 1993 Wiley‐Liss, Inc.
LISREL modeling of high density lipoprotein cholesterol (HDL) levels in male twins
Authors: Schwartz Joseph E. , Yuan Huixing , Mendell Nancy R. , Finch Stephen J. 
Published: June 2005

AbstractBased on the LISREL modeling approach for data from monozygotic (MZ) and dizygotic (DZ) twins [Heath et al., 1989; Neale and Cardon, 1992], the hypothesized variance of the logarithm of high density lipoprotein cholesterol due to additive genetic factors was estimated to equal 19% for males. Unobserved common environment accounted for 32% of the variance of log HDL. Both estimates controlled for body mass, alcohol consumption, and smoking. The model had very strong goodness‐of‐fit indices. © 1993 Wiley‐Liss, Inc.
Use of generalized estimating equations in segregation analysis of continuous outcomes
Authors: Stram Daniel O. , Lee Hang , Thomas Duncan C. 
Published: June 2005

AbstractThe use of generalized estimating equations (GEE) [Liang and Zeger, 1986] is explored as a potential alternative to maximum likelihood methods for segregation analysis of continuous phenotypes. We discuss the number of sample moments required by GEE to estimate parameters in simple major gene models, and the computational burden of the GEE methods applied to large pedigrees. © 1993 Wiley‐Liss, Inc.
Complex segregation analysis of LDL peak particle diameter
Authors: Austin M. A. , Jarvik G. Pairitz , Hokanson J. E. , Edwards K. 
Published: June 2005

AbstractA predominance of small low‐density lipoprotein (LDL) particles, as determined by gradient gel electrophoresis (GGE), has been proposed to be a common genetic marker for risk of coronary heart disease. Previous analyses of the families in the Berkeley data set defined a dichotomous trait based on the LDL size distribution by GGE: subjects with a predominance of small LDL particles have LDL subclass “pattern B,” while those with a predominance of large LDL particles have LDL subclass “pattern A.” Using this definition, previous complex segregation analyses demonstrated a single major gene effect on pattern B with a dominant or additive mode of inheritance, and reduced penetrance in young males and premenopausal women. In the present analyses, a continuous variable denoted LDL peak particle diameter is used, reflecting the size (diameter in Å) ofthe major LDL subclass, for comparison with the dichotomous LDL subclass pattern classification. After adjusting for age and gender, the results demonstrate a single major Mendelian gene effect, but the exact mode of inheritance could not be established. Thus, analysis of the continuous variable was not superior to that of the dichotomous classification in determining the mode of inheritance of the proposed single gene controlling LDL subclasses. © 1993 Wiley‐Liss, Inc.
A bivariate genetic analysis of HDL‐ and LDL‐cholesterol incorporating measured covariates: A gibbs sampling application
Authors: Mack Wendy J. , Gauderman W. James , Thomas Duncan C. 
Published: June 2005

AbstractWe analyzed HDL‐ and LDL‐cholesterol levels as a bivariate phenotype in 27 families as a function of major genes, polygenes, and measured covariates using a Monte Carlo sampling technique called Gibbs sampling. Major genes and polygenes exhibited strong effects, when considered separately. While a major gene versus polygene model could not be clearly differentiated for HDL‐C, polygenes appeared to play a stronger role than a major gene for LDL‐C. There was no evidence of linkage between the two major genes for HDL‐ and LDL‐C, and the correlation in polygenes was negative. The analyses illustrate the potential applicability of Gibbs sampling to such complex problems as the multivariate analysis of continuous phenotypes. © 1993 Wiley‐Liss, Inc.
Compound regressive models for quantitative multivariate phenotypes: Application to lipid and lipoprotein data
Authors: Bagchi P. , Jiang O. , Bonney G. E. 
Published: June 2005

AbstractIn this paper we consider the compound version of the class D regressive models for a p variate phenotypic outcome. The likelihood function is noted and the results are illustrated with the Donner Laboratory data, without the assumption of a major gene for the brevity of presentation. © 1993 Wiley‐Liss, Inc.
Linkage analysis in a large pedigree ascertained due to essential familial hypercholesterolemia
Authors: Bailey‐Wilson Joan E. , Wilson Alexander F. , Bamba Vaneeta 
Published: June 2005

AbstractSib‐pair linkage analysis was used to screen a large pedigree, ascertained through four members with hypercholesterolemia, for evidence of linkage between 12 quantitative traits and 15 genetic marker loci. Traits were analyzed on the untransformed, natural log and square root‐transformed scales. After adjusting for multiple tests, there is a suggestion of linkage between height and the Kidd blood group on chromosome 18 and between VLDL cholesterol, and possibly triglyceride, and KM on chromosome 2. © 1993 Wiley‐Liss, Inc.
Genetic control of macromolecular synthesis during development of an ascidian: Ascidia nigra
Authors: Smith Kirby D. 
Published: June 2005

AbstractDuring early tunicate development, there are two periods of rapid protein synthesis. The first begins shortly after fertilization and continues until about the four cell stage, the second begins at gastrulation. Only the second increase in the rate of protein synthesis is inhibited by actinomycin‐D. In addition to the initial high rate of synthesis there is some protein synthesis throughout early development which is insensitive to treatment with actinomycin‐D. The tunicate embryo thus shows two kinds of genomic control during development. It is suggested that one of them operates at the level of the synthesis of new messenger RNA, and the other at the level of translation of already existing, stable, messenger RNA. This dichotomy of regulatory mechanisms is similar to that occurring during sea urchin development.It is also shown that RNA synthesis first begins around the four cell stage in the Ascidian embryo and that this synthesis is sensitive to treatment with actinomycin‐D. It is postulated that this early synthesis of RNA accounts for the difference between mosaic and regulative development.
Polar body and pronucleus formation in the pig egg
Authors: Baker R. D. , Dziuk P. J. , Norton H. W. 
Published: June 2005

AbstractPig eggs were recovered at known time intervals after insemination and ovulation. The number of sperm attached to the zona pellucida and the proportion of eggs fertilized increased continuously from two hours to 48 hours after insemination. Some eggs had cumulus cells until as late as 12 hours after ovulation. Sperm penetrated the eggs between six and 12 hours after ovulation and pronuclei persisted between eight and 12 hours after ovulation. The second meiotic division appeared to take place in a bulge from the cytoplasm. The second polar body was formed in this bulge and the female chromatin then migrated back into the cytoplasm.
Secretion from normal and supersensitive avian salt glands
Authors: Gill James B. , Burford Hugh J. 
Published: June 2005

AbstractThe sensitivity of the chronically denervated salt gland of the domestic goose to hypertonic, oral salt loading was investigated. In conscious geese the chronically denervated salt gland was supersensitive to an oral salt load. d‐Aldosterone did not appear to stimulate either the normal or denervated glands above control experiments. However, aldosterone did have a tendency to cause prolongation of secretion time.
Polymorphism of albumin‐like proteins in the South American tetraploid frog Odontophrynus americanus (Salientia: Ceratophrydidae)
Authors: Beçak Willy , Schwantes Arno R. , Schwantes Maria Luiza B. 
Published: June 2005

AbstractUtilizing starch gel electrophoresis, a study was made on the albuminlike plasma protein of a tetraploid South American species of frog. No allelic polymorphism at this locus was indicated in the congeneric diploid species O. cultripes, but five distinct electrophoretic phenotypes were encountered among 141 frogs of the tetraploid species O. americanus. These included two homozygous types each with a single distinctive albumin‐like band, and three heterozygous types. The three heterozygotes differed from each other by relative staining intensity of the bands, and presumably represent 3:1, 2:2, and 1:3 ratios of allelic dosage. The frequency distribution of the five phenotypes among 141 frogs fitted well with the expected values calculated on the basis of the binomial (p + q)4 with allelic frequencies of 0.415 and 0.585.
A study of properties of renal microbodies of the rat,
Authors: Beard Margaret E. , Allen John M. 
Published: June 2005

AbstractThe in vitro response of renal microbodies and lysosomes to a variety of altered physical and chemical conditions was examined. The influence of these conditions upon the integrity of the organelles was determined as that proportion of the total activity of various “marker” enzymes (α‐hydroxy acid oxidase, catalase and D‐amino acid oxidase for microbodies, and acid phosphatase for lysosomes) which was released from the organelles and recovered in the soluble phase following treatment.Microbodies and lysosomes were separated by differential centrifugation from 15% homogenates of male, rat kidney prepared in 0.25 M sucrose. After exposure to experimental treatments, the preparation was further separated into sediment and supernatant fractions by centrifugation at 100,000 × g for 30 minutes. The sediment and supernatant fractions were assayed to determine the distribution of the “marker” enzymes.Eighty to 100% of the activities of α‐hydroxy acid oxidase and catalase were found in the supernatant after exposure of the microbody‐lysosome fraction to low concentrations of Triton‐X 100 or digitonin, or after treatment by sonic vibrations or high speed laminar shearing. Lesser but significant proportions of the total activities of these enzymes were recovered in the soluble phase after exposure of the organelles to distilled water, 0.1 M Sorensen's phosphate buffer or 0.1 M TRIS‐HCl buffer prepared in distilled water. Acid phosphatase showed lower levels of release into the supernatant under most of these conditions.When microbody‐lysosome preparations were exposed to sucrose in concentrations of 0.1 M to 0.8 M to phosphate buffer in 0.25 M sucrose or to TRIS‐HCl buffer prepared in 0.25 M sucrose, the release of α‐hydroxy acid oxidase, catalase and acid phosphatase was insignificant. However, under these conditions D‐amino acid oxidase was released into the soluble phase to a significant extent.These results suggest that α‐hydroxy acid oxidase and catalase are soluble constituents of renal microbodies while D‐amino acid oxidase is associated firmly with a sedimentable component of the organelle, and that renal microbodies are more fragile than renal lysosomes.
Attempted fertilization of hamster eggs following transplantation into the uterus
Authors: Hunter R. H. F. 
Published: June 2005

AbstractThe possibility of obtaining fertilization of mammalian eggs at sites in the reproductive tract other than the ampulla of the Fallopian tube appears to have received little attention. Following transplantation of recently‐ovulated hamster eggs from the tubes of 66 donors into the uterine horns of a similar number of mated or inseminated recipients at known stages of the estrous cycle, none of 392 recovered eggs was found to be fertilized after periods of between two and eight hours in the uterus. All eggs were completely denuded of cells of the cumulus oophorus and corona radiata at recovery, but spermatozoa were not found attached to or within the zona pellucida. Large globules, presumably derived from deutoplasmic components of the vitellus, were observed in the perivitelline space of transferred eggs recovered from the uterus on the morning after ovulation; the vitelline membrane appeared to be damaged in a proportion of these eggs. However, apart from such adverse effects of the uterine fluids upon the egg membranes, it should also be considered that hamster spermatozoa may require exposure to the environment of the Fallopian tube before they acquire the ability to penetrate the eggs.
Crystalloid formation in unfertilized mouse ova under influence of cytochalasin B
Authors: Moskalewski Stanislaw , Sawicki Wojciech , Gabara Barbara , Koprowski Hilary 
Published: June 2005

AbstractOva from superovulated Swiss albino ICR mice were exposed to 1, 10, and 40 μg cytochalasin B/ml in Whitten and Biggers medium (WBM) for intervals up to 24 hours. Controls were incubated in ordinary medium or in medium containing dimethylsulfoxide (DMSO) in an amount equivalent to that used to dissolve cytochalasin B, taking dilution into account. The ova were mounted on slides in egg albumin, stained by the Feulgen method and counterstained with light green SF, or they were processed for electron microscopy. The DMSO treatment, as determined by either light or electron microscopy, had no essential effect. Eggs treated with 10 or 40 μg cytochalasin/ml did not exhibit the fragmentation observed in some of the control ova. Treated eggs contained either several spherical bodies, which sometimes reached a size of 8 to 10 μ, or as many as 20 smaller bodies, stainable with light green SF and positive for proteins when stained with mercury‐bromphenol blue. These bodies, first observed after exposure for eight hours to cytochalasin, were revealed by electron microscopy to be groups of crystalloids which occasionally entrapped microfilaments or granules. Neither the spacial relationship of crystalloids to cell organelles nor the preliminary stages of their formation could be observed. Since little protein synthesis occurs in unfertilized eggs, and the addition of 50 and 250 μg of puromycin did not prevent formation of these bodies, it is suggested that they were formed by the crystallization of proteinaceous material already present in the eggs.
Gene transcription in mosaic embryos. II. Polyribosomes and messenger RNA in early development of the coot clam, Mulinia lateralis
Authors: Kidder Gerald M. 
Published: June 2005

AbstractEmbryos of the coot clam, Mulinia lateralis, have been found to synthesize the several types of RNA in essentially the same temporal pattern as observed in the regulative embryos of a variety of deuterostome organisms. Since it remained to be shown whether the RNA produced in early development of mosaic embryos such as those of the clam has the same function as that synthesized by regulative embryos, a study of the entry of newly‐synthesized RNA into polyribosomes of Mulinia embryos was carried out.Unfertilized oocytes contain a detectable number of polyribosomes, and within 45 minutes after fertilization this number has increased. The proportion of ribosomes engaged in polyribosomes continues to increase throughout development, in the absence of any change in the overall size distribution of the polyribosomes. Newly‐synthesized RNA can be found in specific association with light polyribosomes as early as the two‐cell stage, and the polyribosome classes receiving this RNA are active in protein synthesis. The RNA entering polyribosomes in late cleavage was purified and analyzed by sucrose gradient centrifugation and found to consist predominately of the 8–10s species which had been observed previously in Mulinia embryos from early cleavage through gastrulation. The similarities between this RNA and the 9–10s RNA discovered in sea urchin embryos, which is considered to include the mRNA's for chromosomal histones, suggest that early RNA synthesis in clam and sea urchin embryos fulfills basically the same function. This finding discourages speculation concerning possible differences in gene transcription patterns between early mosaic and regulative embryos.
Electrical interaction among large cells in the cardiac ganglion of the lobster, Panulirus japonicus
Authors: Tazaki Kenro 
Published: June 2005

AbstractTo investigate electrical interaction among large cells in the lobster cardiac ganglion, electrotonic transmission between the somata of two such cells was observed by applying current pulses of two different durations and recording induced responses in the membrane potential of soma. The brief potential changes induced in one soma were transmitted to an adjacent soma through electrotonic pathways in the same way as the longer potential changes. However attenuation was greater for the shorter pulses. The amplitude of the soma spike markedly decreased compared to that of the axon spike, and the ratio was about 5.5. The soma spike was not a regenerative response of the soma membrane, but it was an electrotonic spread of the axon spike. The attenuation ratio of the soma spike was almost the same as that measured for a brief potential change such as a spike applied to the soma. These findings indicate that the soma spike spreads electrotonically to the adjacent soma through the electrical connections, while the axon spike does not. Such electrical transmission of the spike was extremely weak. The slow potential, electronic transmission of which had been observed between large cells, was restricted to the soma. The results suggest that the electrotonic pathways interconnect the somata of large cells in the anterior part of the ganglionic trunk, but not the axons. Electrical transmission of the spike through the pathways is very weak because of the inexcitable membrane of the somata. The electrotonic pathways are considered to be fibre‐like connections between dendrites arising from the somata.
Glycogen in lens of tunicate tadpole (Chordata: Ascidiacea)
Authors: Eakin Richard M. , Kuda Aileen 
Published: June 2005

AbstractThe larval eye (cerebral ocellus) of an ascidian, Ciona intestinalis, possesses a lens of three cells: in the center of each is a large granular body. Several lines of evidence indicate that the lens bodies are composed of beta particles of glycogen. The granules have diameters of 300–400 Å; they stain lightly with lead citrate; they are PAS positive (periodic acid Schiff reaction); they are digestible with alpha amylase; and they respond positively to Thiéry's silver proteinate stain.
Kinetic studies on the mating reaction of Tetrahymena pyriformis, Syngen 1
Authors: McCoy J. Wynne 
Published: June 2005

AbstractMating is induced in Tetrahymena pyriformis, syngen 1, by mixing starved and washed cultures of unlike mating type. A refractory period of at least 35 minutes is observed before mating begins. The duration of the “waiting period” is shown to depend on concentrations of cells of each mating type, in such a way that the rate of approach of mating is inversely proportional to the product of the concentrations of cells of the two mating types. These observations suggest that the cells “count” collisions with cells of unlike mating type during the waiting period. Exposure of the starved cultures to a low concentration of reactive cells of unlike mating type was used in a “conditioning” experiment. The waiting period is reduced when such conditioned stocks are mixed. The results of this experiment also support the interpretation that the rate of approach of mating depends on the number of collisions experienced by the cells.
Fertilization of the mouse oocyte: Sequence and timing of nuclear progression to the two‐cell stage
Authors: Donahue Roger P. 
Published: June 2005

AbstractFrom 88 superovulated, mated CFI (Carworth) females, 2643 eggs were collected at two hourly intervals between 12 and 36 hours after administration of human chorionic gonadotrophin and then fixed, stained and examined as whole‐mounts by light microscopy. Mating and ovulation were essentially complete at 10 and 14 hours respectively.Metaphase II oocytes continued to decrease in number until 20 hours. Telophase II, a maximum at 16 hours (22% of all oocytes), was not seen after 20 hours. Pronuclei first appeared at 16 hours and at 24 hours, 87% of the ova were pronuclear. Metaphase of first cleavage, first detected at 28 hours, represented 17% of the ova at 32 hours. The first cleavage division occurred between 30 and 34 hours.The pronuclear chromatin network, which is always visible, is more diffuse in the larger, male pronucleus. During first cleavage prophase, the chromatin strands shorten and distinct chromosomes appear, those of male origin being less condensed. The two chromosome groups then combine to form first cleavage metaphase. Pronuclear fusion was not observed.Twenty‐three per cent of the ova had not undergone first cleavage by 36 hours: 6% were at earlier stages and presumably arrested while 14% were fragmented or had degenerated metaphase II chromosomes. Anomalies of oocyte maturation and fertilization accounted for 1.6% of all ova.
The effects of the nicotinamide sensitive teratogen 3‐acetylpyridine on chick limb mesodermal cells in culture: Biochemical parameters
Authors: Caplan Arnold I. 
Published: June 2005

Abstract3‐acetylpyridine (3AP) causes severe muscular hypoplasia in vivo and seems to potentiate chondrogenic expression of limb bud cells in vitro. In both cases nicotinamide completely relieves these effects. In cell cultures, 3AP causes a substantial drop in nicotinamide incorporation. This decreased incorporation represents not only decreased cellular pools of nicotinamide but also decreased DPN‐TPN pools. 3AP also decreases the rate of RNA, protein, and mucopolysaccharide synthesis. 3AP does not affect the rate of DNA synthesis which is constantly decreasing as chondrogenic expression increases. Even though the rates of macromolecular synthesis seem to be reduced, the specific activity of an obligatory enzyme for mucopolysaccharide assembly, UDP glucose pyrophosphorylase, dramatically increases with 3AP‐treatment. This is interpreted to mean that 3AP potentiates of cartilage synthesizing machinery which is observed as a potentiation of chondrogenic expression. These data are discussed with regard to nicotinamide's proposed role in affecting the development of chick limb mesodermal cells into muscle and cartilage producing phenotypes. It is proposed that alterations in local concentrations of essential molecules like nicotinamide, DPN, or TPN can control phenotypic expression.