bluuebunny/crossref_metadata_2025_split huggingface dataset:
Systematic screening for mutations in the promoter and the coding region of the 5‐HT1A gene
Authors: Erdmann Jeanette , Shimron‐Abarbanell Daphne , Cichon Sven , Albus Margot , Maier Wolfgang , Lichtermann Dirk , Minges Jürgen , Reuner Ulrike , Franzek Ernst , Ertl Martha A. , Hebebrand Johannes , Remschmidt Helmut , Lehmkuhl Gerd , Poustka Fritz , Schmidt Martin , Fimmers Rolf , Körner Judith , Rietschel Marcella , Propping Peter , Nöthen Markus M. 
Published: June 2005

AbstractIn the present study we sought to identify genetic variation in the 5‐HT1A receptor gene which through alteration of protein function or level of expression might contribute to the genetic predisposition to neuropsychiatric diseases. Genomic DNA samples from 159 unrelated subjects (including 45 schizophrenic, 46 bipolar affective, and 43 patients with Tourette's syndrome, as well as 25 healthy controls) were investigated by single‐strand conformation analysis. Overlapping PCR (polymerase chain reaction) fragments covered the whole coding sequence as well as the 5′ untranslated region of the 5‐HT1A gene. The region upstream to the coding sequence we investigated contains a functional promoter. We found two rare nucleotide sequence variants. Both mutations are located in the coding region of the gene: a coding mutation (A→G) in nucleotide position 82 which leads to an amino acid exchange (Ile→Val) in position 28 of the receptor protein and a silent mutation (C→T) in nucleotide position 549. The occurrence of the Ile‐28‐Val substitution was studied in an extended sample of patients (n = 352) and controls (n = 210) but was found in similar frequencies in all groups. Thus, this mutation is unlikely to play a significant role in the genetic predisposition to the diseases investigated. In conclusion, our study does not provide evidence that the 5‐HT1A gene plays either a major or a minor role in the genetic predisposition to schizophrenia, bipolar affective disorder, or Tourette's syndrome. © 1995 Wiley‐Liss, Inc.
Systematic search for major genes in schizophrenia: Methodological issues and results from chromosome 12
Authors: Dawson Elisabeth , Powell John F. , Sham Pak , Shaikh Sanober , Taylor Celia , Clements Alison , Asherson Philip , Sargeant Matthew , Collier David , Nanko Shin , Whatley Stephen , Murray Robin , McGuffin Peter , Owen Michael , Gill Michael 
Published: June 2005

AbstractWe describe a method of systematically searching for major genes in disorders of unknown mode of inheritance, using linkage analysis. Our method is designed to minimize the probability of missing linkage due to inadequate exploration of data. We illustrate this method with the results of a search for a locus for schizophrenia on chromosome 12 using 22 highly polymorphic markers in 23 high density pedigrees. The markers span approximately 85–90% of the chromosome and are on average 9.35 cM apart. We have analysed the data using the most plausible current genetic models and allowing for the presence of genetic heterogeneity. None of the markers was supportive of linkage and the distribution of the heterogeneity statistics was in accordance with the null hypothesis. © 1995 Wiley‐Liss, Inc.
Potential linkage for schizophrenia on chromosome 22q12‐q13: A replication study
Authors: Schwab S. G. , Lerer B. , Albus M. , Maier W. , Hallmayer J. , Fimmers R. , Lichtermann D. , Minges J. , Bondy B. , Ackenheil M. , Altmark D. , Hasib D. , Gur E. , Ebstein R. P. , Wildenauer D. B. 
Published: June 2005

AbstractIn an attempt to replicate a potential linkage on chromosome 22q12‐q13.1 reported by Pulver et al. [1994: Am J Med Genet 54:36–43], we have analyzed 4 microsatellite markers which span this chromosomal region, including the IL2RB locus, for linkage with schizophrenia in 30 families from Israel and Germany. Linkage analysis by pairwise lod score analysis as well as by multipoint analysis did not provide evidence for a single major gene locus. However, a lod score of Zmax = 0.612 was obtained for a dominant model of inheritance with the marker D22S304 at recombination fraction 0.2 by pairwise analysis. In addition, using a non‐parametric method, sib pair analysis, a P value of 0.068 corresponding to a lod score of 0.48 was obtained for this marker. This finding, together with those of Pulver et al. [1994: Am J Med Genet 54:36–43] and Coon et al. [1994: Am J Med Genet 54:72–79], is suggestive of a genetic factor in this region, predisposing for schizophrenia in a subset of families. Further studies using nonparametric methods should be conducted in order to clarify this point. © 1995 Wiley‐Liss, Inc.
Increased chromosomal breakage in tourette syndrome predicts the possibility of variable multiple gene involvement in spectrum phenotypes: Preliminary findings and hypothesis
Authors: Gericke George S. , Simonic Ingrid , Cloete Elma , Buckle Cecile , Becker Piet J. 
Published: June 2005

AbstractIncreased chromosomal breakage was found in 12 patients with DSM‐IV Tourette syndrome (TS) as compared with 10 non‐TS control individuals with respect to untreated, modified RPM1‐, and BrdU treated lymphocyte cultures (P < 0.001 in each category). A hypothesis is proposed that a major TS gene is probably connected to genetic instability, and associated chromosomal marker sites may be indicative of the localization of secondary genes whose altered expression could be responsible for associated comorbid conditions. This concept implies that genes influencing higher brain functions may be situated at or near highly recombigenic areas allowing enhanced amplification, duplication and recombination following chromosomal strand breakage. Further studies on a larger sample size are required to confirm the findings relating to chromosomal breakage and to analyze the possible implications for a paradigmatic shift in linkage strategy for complex disorders by focusing on areas at or near unstable chromosomal marker sites. © 1995 Wiley‐Liss, Inc.
Association study of schizophrenia and the IL‐2 receptor β chain gene
Authors: Nimgaonkar V. L. , Yang Z. W. , Zhang X. R. , Brar J. S. , Chakravarti A. , Ganguli R. 
Published: June 2005

AbstractA case‐control association study was conducted in Caucasian patients with schizophrenia (DSM‐III‐R, n = 42) and unaffected controls (n = 47) matched for ethnicity and area of residence. Serum interleukin‐2 receptor (IL‐2R) concentrations, as well as a dinucleotide repeat polymorphism in the IL‐2Rβ chain gene, were examined in both groups. No significant differences in IL‐2R concentrations or in the distribution of the polymorphism were noted. This study does not support an association between schizophrenia and the IL‐2Rβ gene locus, contrary to the suggestive evidence from linkage analysis in multicase families. © 1995 Wiley‐Liss, Inc.
No evidence for linkage between the X‐chromosome marker DXS7 and schizophrenia
Authors: Okoro Christabella , Bell Rachel , Sham Pak , Nanko Shin , Asherson Philip , Owen Michael , Gill Michael , McGuffin Peter , Murray Robin M. , Collier David 
Published: June 2005

AbstractDeLisi et al. (1994b) have examined the X and Y chromosomes for linkage to schizophrenia in 126 small families and report a small positive LOD score for the marker DXS7, adjacent to the MAO locus at Xp11.4–11.3. Because of this, we have examined the DXS7 for linkage to schizophrenia using 17 pedigrees in which male‐to‐male transmission of schizophrenia was absent. Alleles at DXS7 were genotyped using the PCR and LOD scores calculated using five models of inheritance, including classical dominant recessive and intermediate models. LOD scores were substantially negative for all models examined and analysis for linkage heterogeneity using the LOD2 method showed no significance. Analysis by the nonparametric affected sib‐pair method likewise indicated no linkage. We conclude that DXS7 is not a major locus for schizophrenia in our collection of pedigrees. © 1995 Wiley‐Liss, Inc.
Potential linkage disequilibrium between schizophrenia and locus D22S278 on the long arm of chromosome 22
Authors: Moises Hans W. , Yang Liu , Li Tao , Havsteen Bent , Fimmers Rolf , Baur Max P. , Liu Xiehe , Gottesman Irving I. 
Published: June 2005

AbstractLocus D22S278 at 22q12 has been implicated in schizophrenia by sib‐pair analysis. In order to replicate these results, we performed the transmission test for linkage disequilibrium (TDT) in 113 unrelated schizophrenic patients and their 226 parents. Evidence for potential linkage disequilibrium was obtained between schizophrenia and allele 243 of the marker AFM 182xd12 at the locus D22S278 (P = 0.02). The results of our study suggest a detectable oligogenic gene in a multigene system for schizophrenia closely linked to D22S278 on the long arm of chromosome 22. If confirmed by others, this finding could lead to the identification of a schizophrenia susceptibility gene. © 1995 Wiley‐Liss, Inc.
Exclusion of close linkage between the synaptic vesicular monoamine transporter locus and schizophrenia spectrum disorders
Authors: Persico Antonio M. , Wang Zhe Wu , Black Donald W. , Andreasen Nancy C. , Uhl George R. , Crowe Raymond R. 
Published: June 2005

AbstractThe principal brain synaptic vesicular monoamine transporter (VMAT2) is responsible for the reuptake of serotonin, dopamine, nor‐epinephrine, epinephrine, and histamine from the cytoplasm into synaptic vesicles, thus contributing to determination of the size of releasable neurotransmitter vesicular pools. Potential involvement of VMAT2 gene variants in the etiology of schizophrenia and related disorders was tested using polymorphic VMAT2 gene markers in 156 subjects from 16 multiplex pedigrees with schizophrenia, schizophreniform, schizoaffective, and schizotypal disorders and mood incongruent psychotic depression. Assuming genetic homogeneity, complete (θ = 0.0) linkage to the schizophrenia spectrum was excluded under both dominant and recessive models. Allelic variants at the VMAT2 locus do not appear to provide major genetic contributions to the etiology of schizophrenia spectrum disorders in these pedigrees. © 1995 Wiley‐Liss, Inc.This article is a U.S. Government work and, as such, is in the public domain in the United States of America.
Association analysis of a polymorphism of the monoamine oxidase B gene with Parkinson's disease in a Japanese population
Authors: Morimoto Yuji , Murayama Nobuhiro , Kuwano Akira , Kondo Ikuko , Yamashita Yoriaki , Mizuno Yoshikuni 
Published: June 2005

AbstractThe polymorphic allele of the monoamine oxidase B (MAO‐B) gene detected by polymerase chain reaction (PCR) and single‐stranded conformation polymorphism (SSCP) was associated with Parkinson's disease (PD) in Caucasians. We characterized this polymorphic allele, allele 1, of the MAO‐B gene using direct sequencing of PCR products. A single DNA substitution (G‐A), resulting gain of Mae III restriction site was detected in intron 13 of the MAO‐B gene. The allele associated with PD in Caucasians was twice as frequent as in healthy Japanese, but the association of the allele of the MAO‐B gene was not observed in Japanese patients with PD. © 1995 Wiley‐Liss, Inc.
Lack of association between dopamine D4 receptor gene and schizophrenia
Authors: Tanaka Toshihisa , Igarashi Shuichi , Onodera Osamu , Tanaka Hajime , Kameda Kensuke , Takahashi Kuniaki , Tsuji Shoji , Ihda Shin 
Published: June 2005

AbstractAn intriguing property of the dopamine D4 receptor gene is a hypervariable segment in the coding region characterized by a varying number of direct imperfect 48 bp repeats (2–8 or 10 repeats) in the third exon of the gene [Lichter et al., 1993: Hum Mol Genet 2:767–773]. The authors analyzed 70 unrelated schizophrenics and 70 normal controls to determine the allele and genotype frequencies created by length polymorphism of dopamine D4 receptor gene. All patients and controls were unrelated and from the Japanese population. Patients were divided into three groups with regard to age at onset, familial loading, and severity of symptoms assessed strictly with Manchester scale. There were no statistically significant differences if the distributions of alleles and genotypes were analyzed for schizophrenia as a whole or analyzed in consideration of those clinical subtypes. Lichter and colleagues [1993] have reported that at least 25 haplotypes exist for this polymorphic region of the dopamine receptor D4 gene. In this study only the alleles created by length polymorphism were analyzed, and further investigation to determine the haplotypes of patients and controls on using a much larger sample size will be required. © 1995 Wiley‐Liss, Inc.
Blood groups as genetic markers in chimpanzees: Their importance for the national chimpanzee breeding program
Authors: Socha W. W. 
Published: June 2005

AbstractSevere restrictions on the importation of chimpanzees emphasize the importance and urgency of domestic breeding as a sole means to assure an uninterrupted supply of animals for medical research. An insight into the genetic structure of the self‐sustained captive population of animals is indispensable to prevent the effects of inbreeding and to preserve the animals' reproductive capacity. This can be achieved by study of sets of genetic markers in the form of heritable molecular or antigenic variations detectable by relatively simple methods. Among chimpanzee blood components so far identified as possible genetic markers, red cell antigens appear to be the most useful and most readily available. The amount of information concerning blood groups of chimpanzees, their serology and genetics, number of polymorphic types, etc, surpasses data on other heritable traits in this species. A concise review of the present status of knowledge of chimpanzee blood groups and, particularly, of serology and genetics of two complex blood group systems, V‐A‐B‐D and R‐C‐E‐F, is given together with a few examples of their application in cases of disputed parentage. Finally, a list of practical steps is suggested dealing with introduction and use of genetic markers as elements of the national chimpanzee breeding program.
The effect of peer contact upon physiological response to maternal separation
Authors: Caine Nancy , Reite Martin 
Published: June 2005

AbstractThe response of both human and nonhuman primate infants to separation from their mothers is characterized by agitation or protest behaviors followed by a behavioral depressive reaction. In monkeys, this behavioral syndrome has striking physiological correlates, including heart rate and sleep disturbances. There is, however, considerable individual variability in response to maternal separation. The authors hypothesized that the amount of contact with particular, familiar conspecifics might account for some of this variability. In support of this notion, data are presented that indicate that pigtailed monkey infants who have been separated from their mothers but who maintain relatively high levels of peer contact do not show as severe decreases in heart rate during maternal separation as do those that exhibit less peer contact.
Hematological and serum biochemical values in free‐ranging Macaca fascicularis of mauritius: Possible diabetes mellitus and correlation with nutrition
Authors: Tattersall Ian , Dunaif Andrea , Sussman Robert W. , Jamieson Robert 
Published: June 2005

AbstractObtained values are presented from a study of blood biochemistry and hematology of free‐ranging crab‐eating macaques (Macaca fascicularis) in Mauritius. Normal values are generally comparable to those previously obtained from laboratory populations of this species. Abnormal values included elevated serum glucose and triglycerides in certain individuals that suggested glucose intolerance and diabetes mellitus. A high‐carbohydrate diet consisting of large proportions of sugar cane and molasses may have unmasked a genetic predisposition to diabetes in these animals.
Comparative anatomy of brain monoaminergic neurons in New World and Old World monkeys
Authors: Schofield Susan P. M. , Dixson A. F. 
Published: June 2005

AbstractA comparison of the distribution of brain monoamine neurons in several New World and Old World monkeys was undertaken using the Falck‐Hillarp formaldehyde histofluorescence technique. The overall organization of the monoamine neurons was very similar in all species, although subtle variations were found. Catecholamine (noradrenaline and dopamine) and indoleamine (serotonin) cell bodies corresponding to groups A1–A7, A8–A10, and B1–B9, respectively were found throughout the brainstem. A few catecholamine (dopamine) cells equivalent to groups All and A12 in the diencephalon were also observed. Noradrenaline neurons, rather than those of the dopamine and serotonin systems, tended to be less numerous in the New World monkeys.Ascending catecholamine and indoleamine fiber bundles were observed in most monkeys. It is interesting that fibers corresponding to the “ventral noradrenaline bundle” appeared to be much finer in the common marmoset and tamarin than in other species. In addition, a substantial catecholamine (noradrenaline) innervation of the diencephalon was noted in all the Old World monkeys, while a much lower overall terminal density was apparent in the New World forms.
Triadic interactions in captive Barbary macaques (Macaca sylvanus, Linnaeus, 1758): “Agonistic buffering”?
Authors: Smith E. O. , Peffer‐Smith P. G. 
Published: June 2005

AbstractThis study presents data on the expression of male‐immature triadic interactions, previously termed agonistic buffering, in a captive Macaca sylvanus group. Agonistic buffering has been hypothesized as inhibiting or modifying the expression of aggression. This was tested by examining (1) the dominance ranks of the animals involved in the triadic interactions, (2) the events preceding and following the triadic interactions, and (3) the presence of an infant in nonagonistic encounters between juvenile, subadult, and adult males. The results obtained do not support the hypothesis of agonistic buffering as the single explanation for triadic interactions, but emphasize the contextual variability in the expression of these triadic interactions.
Sexual behavior of wild Barbary macaque males (Macaca sylvanus)
Authors: Taub David M. 
Published: June 2005

AbstractRecent assertions that the Barbary macaque (Macaca sylvanus) is a multiple‐or serial‐mounting species are incorrect. Data are presented from over 300 copulations observed among wild Moroccan Barbary macaques which establish empirically that males of this macaque species are single mounters. The average length of an ejaculatory copulation was 8.7 sec, with a range of 6 to 14 sec. Ejaculation occurred an average of 6.3 sec after mounting, with an average of nine pelvic thrusts per ejaculation. Males appeared capable of ejaculating twice within 16 min, and three consecutive times within 37 min. Characteristically, only one mount and ejaculation occurred during a sexual association between an estrous female and each of her consorting males. Schemes of macaque evolution which incorrectly classify Barbary macaques as a multiple‐mounting species should be viewed cautiously.
Physiology of maternal separation in a bonnet macaque infant
Authors: Reite Martin , Snyder Deborah S. 
Published: June 2005

AbstractA bonnet monkey infant (M. radiata) was monitored both physiologically and behaviorally during a separation experiment in which both its mother and other conspecifiecs were removed from its social group leaving the bonnet infant with three adult pigtailed females. The separated infant exhibited the characteristic slouched posture of depression and physiological changes including decreases in the heart rate and body temperature, increases in cardiac arrhythmias, and alterations in sleep patterns, as has been previously described in separated pigtailed infants. Persistent decreases in heart rate and body temperature were noted following reunion with the mother, possibly reflecting a disturbance in the mother‐infant relationship secondary to the mother's having come into estrus during the period of separation. This study indicates that the physiological correlates of maternal separation previously described in pigtailed infants are not species specific.
Reproductive failure in macaques
Authors: Small Meredith F. 
Published: June 2005

AbstractReproductive failure among captive and free‐ranging macaques is common. Many females experience amenorrhea or anovular cycles. Females who successfully conceive often lose the conceptus before implantation. After implantation, fetuses are aborted because of maternal, paternal, fetal, or placental abnormalities. Death postpartum is likely if infants are premature or if animals are subject to social stress, especially trauma. Based on published reports, reproductive failure among macaques includes an average of 16.3% abortions, 9.9% stillbirths, 21.9% neonatal deaths, and 15.2% infant deaths.
Sequence and age of eruption of deciduous dentition in the baboon (Papio sp)
Authors: Lawrence Wendy A. , Coelho Anthony M. , Relethford John H. 
Published: June 2005

AbstractA detailed eruption sequence and associated age of eruption for deciduous dentition in baboons (Papio sp) are presented in this paper. The sequence was determined by evaluation and comparison of the number and kinds of teeth present in nine age cohorts comprising the study sample of 88 males and 87 females who ranged in age from birth to 763 days. Eruption was assessed visually as present or absent. Several statistical methods used to derive the ages associated with the eruption sequence are described. The basic eruption sequence in the sample population is: i1 i1, i2, i2, \documentclass{article}\pagestyle{empty}\begin{document}$ \mathop {\rm c}\limits_{\rm -} {\rm,}\mathop {\rm c}\limits^{\rm -} $\end{document} m1 (m2, m2), M1, M1. Both sexes show the same pattern, with the exception of the second deciduous molar, where males show a sequence of m2, m2, while females show the opposite. Posterior dentition shows the greatest gender‐specific variation in average age of eruption.
Placental transfer of synthetic and endogenous estrogen conjugates in the rhesus monkey (Macaca mulatta)
Authors: Slikker William , Newport Glenn D. , Hill Donald E. , Bailey John R. 
Published: June 2005

AbstractThe placental transfer of conjugated and nonconjugated estrogens was compared in the pregnant rhesus monkey. Placement of catheters in the maternal and fetal circulation allowed for the sampling of blood after the administration of radiolabeled naturally occurring and synthetic estrogens to mother or fetus. In all cases, nonconjugated‐estrogen placental transfer was greater than conjugated‐estrogen transfer. Comparison of the conjugated estrogens suggested that diethylstilbestrol‐monoglucuronide (DESG) was transferred less efficiently than the estrone‐sulfate (E, S). High‐performance liquid chromatog‐raphy (HPLC) of selected plasma samples revealed that 50–90% of the E, S observed in the maternal circulation was cleaved after fetal administration. In contrast, HPLC of maternal or fetal plasma samples after DESG administration revealed only intact DESG. These results emphasize differences in the placental transfer of the synthetic and naturally occurring estrogen hormones.