bluuebunny/crossref_metadata_2025_split huggingface dataset:
Familial clustering of colon, breast, uterine, and ovarian cancers as assessed by family history
Authors: Nelson Christine L. , Sellers Thomas A. , Rich Stephen S. , Potter John D. , McGovern Paul G. , Kushi Lawrence H. 
Published: June 2005

AbstractThe aggregation of colon, endometrial, ovarian, and possibly breast cancers in families has been described as a “cancer family syndrome” (now called Lynch syndrome II). To determine if the familial clustering of these malignancies was more common in women with cancer than without, we analyzed data from the Iowa Women's Health Study (IWHS), a population‐based sample of 41,837 women aged 55–69 years. Self‐reported information was collected on history of colon, uterine, ovarian, and breast cancers in female first‐degree relatives. A family history of cancer of the breast (odds ratio [OR] = 1.4), colon (OR = 1.3), and uterus (OR = 1.3), but not ovary (OR = 1.2), was significantly more common among women with a personal history of any of these four cancers (all P < 0.05); the pattern of the ORs suggested strongly that the clustering tended to be site‐specific. Age‐adjusted relative risks (RR) of incident colon cancer over 5 years of follow‐up (N = 237) were calculated with regard to family history. Colon cancer incidence was increased among women with a family history of breast (RR = l.3), uterine (RR = 1.4), colon (RR = l.5), and ovarian (RR = 1.3) cancers, although none of the risk estimates achieved statistical significance. RR was, however, significantly related to the number of different cancer sites reported among family members (Ptrend = 0.008). These data on a representative sample of postmenopausal women suggest that family histories of colon, breast, uterine, and ovarian cancers are associated with an increased risk of cancer at the same site, but provide little support for the hypothesis that Lynch syndrome II is a non‐random occurrence. © 1993 Wiley‐Liss, Inc.
The Seattle Alzheimer's disease data set
Authors: Wijsman Ellen M. , Bird Thomas D. , Martin George M. , Schellenberg Gerard D. 
Published: June 2005

AbstractForty families submitted to Genetic Analysis Workshop 8 are described. These are the families in the Seattle data set which have been typed for at least one genetic marker from the centromeric region of chromosome 21 or the q arm of chromosome 19. Thirteen of these families have average ages of onset below age 61 and are therefore considered to be early onset families. Seven of the families are of Volga German descent. Thirty‐four of the families have autopsy documented Alzheimer's disease, including all 13 of the early onset pedigrees. The data set includes both the clinical and pedigree information available on the portions of the pedigrees used in the linkage analyses, genotype data on three loci on chromosome 19 and four loci on chromosome 21, and more extended family data on individuals who have not been included in the linkage analyses. © 1993 Wiley‐Liss, Inc.
Susceptibility genes for familial Alzheimer's disease on chromosomes 19 and 21: A reality check
Authors: Farrer Lindsay A. , Stice Ligaya 
Published: June 2005

AbstractLinkage data from 92 FAD kindreds were analyzed by lod score analysis under various assumptions of disease penetrance, marker allele frequencies, and heterogeneity. Multilocus linkage analysis supports the existence of a gene in 40%–65% of families with predominantly late‐onset illness (after age 65) on chromosome 19 between D19S13 and ATP1A3. Evidence for a second FAD gene on chromosome 21 is weaker and stems primarily from a few families with early‐onset disease. Our findings also indicate that choice of the genetic model for FAD and marker allele frequencies may be crucial to conclusions about linkage and heterogeneity. © 1993 Wiley‐Liss, Inc.
Linkage of Alzheimer's disease to chromosome 21 and chromosome 19 markers: Effect of age of onset assumptions
Authors: Goldin L. R. , Gershon E. S. 
Published: June 2005

AbstractAge of onset heterogeneity in Alzheimer's disease families was modelled by allowing for different liability classes for affected individuals according to their age of onset when calculating lod scores to chromosome 21 and chromosome 19 markers. Linkage to chromosome 21 was supported in the Boston data set, and the method of age correction did not greatly change the lod scores when only affected individuals were analyzed. The location of a gene on chromosome 19 for late age of onset illness was affected by the assumptions about early onset individuals. © 1993 Wiley‐Liss, Inc.This article is a US Government work and, as such, is in the public domain in the United States of America.
Risk factors for atherosclerosis in twins
Authors: Duffy David L. , O'Connell Dianne L. , Heller Richard F. , Martin Nicholas G. 
Published: June 2005

AbstractWe performed multivariate genetic analyses of cardiovascular risk factors from two sets of data on US and Australian female twins. Similar models for body‐mass index (BMI), serum low density (LDL) and high density (HDL) lipoproteins, including age as a covariate, were fitted successfully to both groups. These suggested that BMI, or genes responsible for a significant proportion of the variance of BMI, explained correlations between lipid subfractions, as well as those between blood pressure and lipid subfractions, especially HDL. © 1993 Wiley‐Liss, Inc.
Multivariate genetic analysis of apo AI concentration and HDL subfractions: Evidence for major locus pleiotropy
Authors: Blangero J. , Williams‐Blangero S. , Mahaney M. C. 
Published: June 2005

AbstractA major locus influencing apolipoprotein AI (apo AI) serum levels was detected using data from the Donner Laboratory Family Study. This locus accounts for 46% of the phenotypic variability in apo AI levels. Multivariate segregation analysis revealed that this major locus also has significant pleiotropic effects on the relative distribution of high density lipoproteins. © 1993 Wiley‐Liss, Inc.
Segregation analysis for high density lipoprotein in the berkeley data
Authors: Cupples L. Adrienne , Myers Richard H. 
Published: June 2005

AbstractTransmission models for high density lipoprotein (HDL) were evaluated in the Berkeley data set through segregation analyses using S.A.G.E. These preliminary analyses indicate that among the models fitted, an additive model with non‐Mendelian transmission probabilities provides a good fit for HDL, suggesting the possibility of a significant environmental component in the transmission of HDL. After adjustment for triglyceride, however, Mendelian models for a major gene seem to provide as good a fit as non‐Mendelian models but the results do not permit distinction between a dominant model and an additive model. © 1993 Wiley‐Liss, Inc.
A comparison of univariate and multivariate tests for genetic linkage
Authors: Amos C. I. , Laing A. E. 
Published: June 2005

AbstractA variety of robust and model‐dependent genetic linkage methods were applied to log transformed lipid levels from a large pedigree in which the LDL receptor defect has been shown to segregate by molecular biologic techniques. Application of the Haseman‐Elston and a variance‐components based test for linkage identified LDL and cholesterol as cosegregating with the marker C3, which is genetically linked to the LDL receptor defect. Consideration of lipid fractions as a multivariate response identified (0.723 × cholesterol) ‐ (0.551 × triglycerides) as most strongly supporting evidence for linkage with C3. Subsequent segregation and linkage analyses provided support for an autosomal dominant major gene influencing either LDL or the function of cholesterol and triglycerides. Genetic linkage to LDL was only mildly supported, with a maximum lod score of 0.51 at a recombination fraction of θ = 0.33. Genetic linkage of the linear function to C3 was more strongly supported, with a maximum lod score of 1.69 at θ = 0.09. Bivariate analysis of clinical affection (with either type IIa or type IIb hyperlipidemia) and quantitative measures (LDL or the linear function) generally led to decreased lod scores, indicating, in this pedigree, loss of information when using clinical affection. © 1993 Wiley‐Liss, Inc.
Monte Carlo analysis on a large pedigree
Authors: Thompson E. A. , Lin S. , Olshen A. B. , Wijsman E. M. 
Published: June 2005

AbstractMonte Carlo methods for linkage and segregation analysis are applied to the HGAR1 pedigree. To address these data, the methods are extended in several ways. The results are compared with those provided by PAP. © 1993 Wiley‐Liss, Inc.
Aggregation in vivo of Dissociated Cells: II. Role of developmental age in tissue reconstruction
Authors: Garber Beatrice 
Published: June 2005

AbstractDissociated skin cells from 5‐ to 14‐day old chick embryos were placed on the chorioallantoic membrane of host embryos as a suspension or after preaggregation in vitro and were allowed to develop as grafts for 6–10 days. The capacity of cells from younger and older embryos to reconstruct feathers was examined and found to differ characteristically. Young cells, from 5‐ to 8‐day embryos (pre‐placodal and placodal feather stages), reconstructed normal feathers in advanced states of differentiation within large thin‐walled vesicles lined by unkeratinized epithelium. Cells of intermediate age, 10‐day old embryos (hump stage feathers), reconstructed feathers which showed typical histological differentiation into barb ridges and pulp, but were atypical in overall plan; skin epithelium was formed usually as compact keratinizing cysts, sometimes as thin unkeratinized linings of expanded vesicles. Cells from older skin, from 12‐ to 14‐day old embryos, did not reconstruct feathers, but, instead, formed extensive sheets of thick, stratified, keratinized epithelium associated with a dense dermal stroma.These results indicate that cells dissociated from the dermal papilla at post‐placodal stages do not initiate de novo feather morphogenesis. This loss of capacity for feather reconstruction which accompanies advancing developmental age is discussed in terms of known epithelial‐mesenchymal interactions and is considered as a consequence of several possible events: (a) loss of inductiveness by the dermis, (b) loss of responsiveness by the epidermis, (c) loss of cell recognition in sorting out processes, (d) active suppression of sorting out or inductive interactions by conflicting concomitant developmental processes.
Quantitation of amylases in Drosophila separated by acrylamide gel electrophoresis
Authors: Doane Winifred W. 
Published: June 2005

AbstractA technique was developed for the qualitative and quantitative analysis of amylases separated by disc electrophoresis. Gels in which separation occurred were incubated against a starch‐acrylamide film attached to a glass plate. This was subsequently stained with iodine, covered with another plate, and scanned with a densitometer. Enzyme activity as well as an impression of the gels were transferred to the film, thus providing a permanent record of both banding patterns and activity in each band without destroying the gels. A direct relationship was demonstrated between enzyme concentration and change in optical density of the substrate in the bands on the stained film. It was also shown that the amylases remaining in the gels were fully active following electrophoresis and incubation. They could then be cut out, eluted and used for further analysis.The method was applied to extracts from individual adults of eight Amy strains of D. melanogaster, each characterized by a different amylase banding pattern. Patterns formed by separation in acrylamide gel were compared with those previously described for agar gel electrophoresis. Relative activity in each band of a given pattern was determined in addition to the actual activity, which was calculated in mg starch hydrolyzed/minute. Total activity, or the sum of the activities in all bands of a given genotypic pattern, was calculated for each fly. The results fell within the range of expected variability expressed by single flies of each genotype when subjected to standard methods of starch‐iodine assay.
Tissue dynamics of steady state growth in hydra littoralis. III. Behavior of specific cell types during tissue movements
Authors: Campbell Richard D. 
Published: June 2005

AbstractHydra tissues continuously move from the growing column to the body extremities. To study the cellular basis of these movements, mosaic hydra were produced by grafting portions of isotopically labeled animals to portions of unlabeled ones. The progressions of labeled cells away from the original graft site were determined by the method of radioautography. From the data obtained, it is possible to deduce the migratory relations between different cell types and the patterns of their movement.Most cells move in the form of coherent expanding epithelia, in which cells do not individually wander relative to neighboring cells. The gastrodermal tissue sheet includes the gland and digestive cells; the epidermal tissue sheet includes the interstitial and epitheliomuscular cells. These tissues move distally and proximally from a “stationary region,” near the top of column. The two epithelia do not move at the same rate, however, and their stationary regions are at different column levels.Nematocytes migrate in an amoeboid fashion from the body column to the tentacles. They migrate along the epidermal muscular layer, and do not move through the mesolamella to the gastrodermis. These aspects of cell behavior are consistent with the histological structure of hydra.
Combined action of fluorouracil and two mutant genes on limb development in the mouse
Authors: Dagg C. P. 
Published: June 2005

AbstractThe influence of a teratogen on the penetrance and expressivity of two mutant genes that affect limb development in mice was investigated. A low dose of the teratogen, 5‐fluorouracil, produced preaxially hyperphalangous hind feet in a large proportion of wild type fetuses when injected at ten days of development. A high dose increased the frequency of hyperphalangy, caused tibial hemimelia in many hyperphalangous fetuses, and produced cleft palate and vertebral deformities.The mutations, luxoid and luxate, are autosomal semidominant genes that induce preaxially polydactylous hind feet in heterozygotes and tibial hemimelia in homozygotes. Other pleiotropic effects of luxoid in homozygotes are polydactylous forefeet, kinked tails, agenesis of the patella, and infertility in males. In luxate homozygotes the forefeet, tail and patella are normal but the fabella medialis, a sesamoid bone of the knee, is absent.Wild type females were mated to heterozygous luxoid or luxate males and injected with the low dose of fluorouracil. Some of the treated offspring were allowed to be delivered and were subsequnently mated to determine their genotypes. Tibial hemimelia was found in some heterozygous luxoid and luxate offspring but not in wild type offspring, demonstrating a combined effect of gene and tertogen on limb development. The syndrome of fluorouracil‐induced hind limb defects in all heterozygous offspring resembled the syndrome normally found in untreated luxate homozygotes, and therefore, in luxoid heterozygotes the florouracil‐induced phenotype was atypical. Male infertility, polydactylous forefeet, kinked tails, cleft palate, and vertebral defects were not found in fluorouracil‐treated heterozygotes of either mutant.
Problems of acetazolamide and N‐ethylnicotinamide as teratogens
Authors: Landauer Walter , Wakasugi Noboru 
Published: June 2005

AbstractExperiments with acetazolamide and N‐ethylnicotinamide were made by injection into the yolk sac of chicken eggs after 24 and 96 hours of incubation. Acetazolamide produced in both stages abnormalities of the upper beak, the dosage‐effect response following a linear course. Effects minor in incidence were rumplessness at 24 hours, bending of tibiotarsus shaft in both stages and muscular hypoplasia after 96 hours. N‐ethylnicotinamide led to abnormalities of the upper beak in both stages. to malformations of tibiotarsus and fibula at 96 hours. With increasing dosages the results of N‐ethylnicotinamide rose by threshold effects. In a particular strain of White Leghorn fowl embryos gave little or no response to acetazolamide; N‐ethylnicotinamide produced the usual incidence of long bone defects, but few beak abnormalities. Acetazolamide acted as protective supplement when added to treatment with sulfanilamide; it prevented all abnormalities (micromelia) of long bones; it reduced incidence of defects of upper and lower beak after treatment at 24 hours, but not those of upper beak after 96 hours. N‐ethylnicotinamide also gave complete protection against sulfanilamide‐induced abnormality of lower beak and long bones, but an increased incidence of shortened upper beak. Acetazolamide and N‐ethylnicotinamide injected together at 96 hours led to exaggeration in incidence and change in expressivity of defects of the upper beak and a drastic lowering in frequency of tibiotarsus‐fibula malformations. Supplements of ADP reduced toxicity of acetazolamide and incidence of defects of the upper beak produced by it. Interference with NAD functions and oxidative phosphorylation is likely to be the cause of the teratogenic effects of acetazolamide as well as N‐ethylnicotinamide.
The action of x‐irradiation on the regeneration field of the forelimb of the adult newt, Diemictylus viridescens,
Authors: Oberpriller Jean Colville 
Published: June 2005

AbstractStudies were conducted in order to determine the nature of the action of x‐irradiation on regeneration of the urodele forelimb. Right and left forelimbs of adult newts were parabiosed along their posterior edges, after the right limbs had been irradiated with 2,000 r. Forelimbs of control animals underwent similar operations. However, both limbs remained unirradiated. The angles which the stumps made with each other were classified as parallel, acute, and wide angles. Sixty days after amputation of these limbs, the cartilage patterns of the two groups were compared. In the control series, as the angle between the stumps was increased, the number of digits in the bilaterally symmetrical regenerates decreased, with a loss of central structures. At very wide angles, the doubled stumps produced no regenerates. In the experimental series, there were no interference effects from the irradiated right forlimbs. Single normal asymmetric left hands regenerated, despite widening angles between the stumps. Sham operations, which were performed on irradiated and unirradiated limbs, seemed to have no effect on the regenerative capacities of the limbs, with no regeneration in 97.7% of the irradiated limbs and normal regeneration in 91.1% of the unirradiated limbs. X‐rays seem to act on the limb to eliminate the interference effects normally found in regenerating doubled stumps. This seems to involve a disruption of the longitudinal control of the regeneration field. The loss of inter‐tissue communication and possible loss of the bioelectric field is discussed.
The ear of the chameleon: Chamaeleo senegalensis and Chamaeleo quilensis
Authors: Wever Ernest Glen 
Published: June 2005

AbstractThe chameleon ear presents special problems because of variations of structure from the usual lizard pattern: there is no external ear opening and no visible tympanic membrane, and the round window of the cochlea is usually said to be lacking.Measurements of auditory sensitivity in terms of the electrical potentials of the cochlea were carried out in two species, Chamaeleo senegalensis and Chamaeleo quilensis. The results indicated poor sensitivity in comparison with lizards in general, yet the performance was not far below that found in many species with conventional sound‐conducting systems. The frequency range extended from 100 to 10,000 cps, with the best sensitivity in the region of 200 to 600 cps.Experiments were carried out to investigate the operation of these ears in response to aerial sounds and mechanical vibrations. The observations indicated that aerial sounds are received by a special surface, the pterygoid plate, embedded in the tissues at the side of the head. This system resembles that of snakes, in which a detached quadrate bone serves as a receptive surface.The round window problem is not yet solved, but the suggestion is made that there is a path of pressure discharge from the scala tympani to the air of the middle ear cavity by a circuitous route, through the tympanic recess and a series of small spaces and blood vessels traversing the glossopharyngeal foramen. The frictional resistance of such a hindered pathway of discharge could account for the poor sensitivity of these chameleon ears.
Aggregation in vivo of dissociated cells. III. Effect of state of differentiation of cells on feather development in hybrid aggregates of embryonic mouse and chick skin cells
Authors: Garber B. , Kollar E. J. , Moscona A. A. 
Published: June 2005

AbstractThe relation of embryonic age and state of differentiation of cells to their capacity to reconstruct integumental tissues was studied in aggregates of cells dissociated from the skin of 13‐ to 15‐day mouse and 8‐day chick embryos. To attain advanced morphogenesis of the reaggregates, cell suspensions were placed and aggregated on the chorioallantois of chick embryos; the following cell combinations were studied: (1) chick skin cells (epidermal and dermal; (CS), (2) mouse skin cells (epidermal and dermal; MS), (3) MS commingled with CS, (4) mouse epidermal cells (Me) commingled with CS, (5) mouse dermal cells (Md) commingled with CS. Reaggregated MS from 13‐ to 15‐day embryos reconstructed typical mouse skin structures: hair and stratified, keratinized epidermis. Similarly, reaggregated CS reconstructed typical feathers and thin nonkeratinized skin. In bispecific CS + MS aggregates, MS from older embryos (14–15 days) completely suppressed feather development, but formed hair and sheets of bispecific chimeric keratinized epidermis. In contrast, MS from 13‐day embryos co‐aggregated with CS did not suppress feather morphogenesis; in such bispecific aggregates both hair and feathers developed, as well as chimeric epidermis. Most striking was the frequent formation in this combination of “chimeric feathers” in which mouse cells were included in feather structures. Me contributed to the epidermal elements of the feather; Md formed groups at the site of the feather dermal papillae. This changeover in mouse cells from participation in feather morphogenesis in aggregates to its suppression is closely correlated with their developmental age. The contributions of these results to the understanding of histotypic specificity and morphogenetic cell interactions are discussed.
Survival of pronuclear mouse eggs kept at different temperatures
Authors: Lin T. P. 
Published: June 2005

AbstractPronuclear mouse eggs were maintained in globulin‐citrate‐Locke's solution for 120 to 180 minutes at one of the following temperatures: 22–23°C (room), 35–36°C (incubator) or 2–3°C (refrigerator). Their viability was then compared with that of untouched eggs and with eggs immediately transferred from donor to host. After maintenance at room temperature the vitelline membrane shrank irregularly within the zona pellucida; on the other hand, in the pronuclear eggs maintained at refrigeration temperature this did not occur. In contrast, the cytoplasm of the incubated eggs was highly condensed and the vitellus shrunken, although the vitelline surface remained smooth. Survival rate of eggs, as tested by transplantation, was lower after incubation than after refrigeration. Body weight of fetuses developed from eggs maintained at room temperature and refrigeration temperature was significantly less than that of fetuses developed from untouched control eggs, from eggs immediately transferred to a host animal, or from eggs maintained at incubation temperature.