bluuebunny/crossref_metadata_2025_split huggingface dataset:
Human amniotic fluid CX‐L‐fucosidase
Authors: Alhadeff Jack A. , Andrews‐Smtth Grai L. 
Published: July 2010

The activity and properties of a‐L‐fucosidase in 24 samples of amniotic fluid have been investigated using the 4‐methylumbelliferyl substrate. A wide range of fucosidase specific activity (0.20‐1.45 nmol/min/mg protein) was found with an average value of 0.62 nmol/ min/mg protein. Although no clear‐cut correlations exist, there appear to be trends of decreasing fucosidase specific activity with increasing maternal age of donor and increasing gestational time.α‐L‐Fucosidase activity from four amniotic fluids was characterized kinetically and im‐munochemically and found not to differ in its properties due to maternal age of donor or gestational time. Isoelectric focusing revealed multiple forms between pH 5.0 and 6.8, with the majority of activity present between pH 5.0 and 6.0. The pH optimum is near pH 5.0 with a second optimum suggested at pH 6.2. The apparent Michaelis constant (Km) for the 4‐methylumbelliferyl substrate is 0.05 ± 0.01 mM. The enzyme is completely thermostable at 37°C for at least 4 h but loses 95 % of its activity after preincubation at 45°C for 1 h. Double immunodiffusion and immunoprecipitation experiments using anti‐liver α‐L‐fucosidase antibody suggest that the amniotic fluid α‐L‐fucosidase is antigenically similar, if not identical, to the human liver enzyme.
Confirmation of an influence of the inherited Lp(a) variation on serum insulin and glucose levels
Authors: Dahléni Gösta , Berg Kare 
Published: July 2010

Previously reported analyses on three different series of people suggested that fasting serum insulin levels are lower in males with (high levels of) serum Lp(a) lipoprotein (Lp(a +)) than in males without detectable Lp(a) lipoprotein (Lp(a —)). The same was observed during an oral glucose tolerance test. Also, blood glucose concentrations tended to be lower in males with high levels of Lp(a) lipoprotein than in those in whose serum no Lp(a) lipoprotein could be detected. In this paper, we present data which appear to confirm the previously reported results.A significant correlation was found between the fasting triglyceride level and the sum of insulin values determined during the oral glucose tolerance test in healthy Lp(a —) but not in Lp(a+) individuals.The present data, together with those previously reported on an effect of the Lp(a) locus on serum lipid levels and on propensity to contract coronary heart disease, indicate that the genetically determined Lp(a) lipoprotein may be of considerable clinical importance
Platelet monoamine oxidase in a pedigree with schizophrenia: an interlaboratory project
Authors: Ask Anna–Lena , Böök Jan A. , Heyden Thomas , Ross Svante B. , Unge Christina , Wetterberg Lennart , Eiduson Samuel , Kobayashi Kiyofumi 
Published: July 2010

Conflicting reports on the association between platelet MAO activity and schizophrenia prompted a critical review and determinations on identical samples at one laboratory in Sweden and one in the USA. Samples originated from eight schizophrenics and 27 relatives belonging to a large pedigree, thus ensuring biological homogeneity.In the USA laboratory, a significantly lower MAO activity was found in the schizophrenics when benzylamine or β–phenylethylamine was used as substrate (but not with trypt–amine), while a similar result was obtained in the Swedish laboratory when tryptamine was used (but not with benzylamine or (β–phenylethylamine). Comparisons between materials examined in different laboratories do not seem meaningful until differences in methodologies have been clarified. At present there is neither proof nor disproof of MAO being a “genetic marker” for vulnerability to the schizophrenic disorder.
Analysis of family resemblance for lipids and lipoproteins
Authors: Iselius Lennart 
Published: July 2010

A path analysis of published reports on family resemblance reveals an important role for genetic factors in all lipids and lipoproteins, with no evidence of a discrepancy between twins and other relatives (which might be due to dominance or epistasis) nor between studies which used enrivonmental indices and those which did not.Family environment within population is less important and is significantly greater for twins than for other relatives.
A simple method to detect linkage for rare recessive diseases: An application to juvenile diabetes
Authors: Suarez Brian K. , Hodoe Susan E. 
Published: July 2010

A simple procedure designed specifically to detect linkage for rare recessive diseases is described. The method uses information on identity by descent scores for a pair of sibs at a marker locus conditioned on the number of affected sibs in the pair. A procedure for estimating the recombination fraction is described, and a table facilitating the likelihood ratio test of linkage is provided.The method, when applied to a collection of multiplex families segregating for juvenile diabetes mellitus, suggests the possibility that this disease is linked to the HLA complex. The method is found to compare favorably to the maximum likelihood approach, for which the computer program LIPED gives a maximum lod score of 2.48 at a male and female recombination fraction of 8 = 0.20.
Electronic data processing in the Danish Cytogenetic Central Register and EDP problems of registers in general
Authors: Videbech Poul , Nielsen Johannes 
Published: July 2010

A brief introduction to the Danish Cytogenetic Central Register (DCCR) is given, and possibilities, principles and problems concerning the establishment and maintenance of a national cytogenetic register are presented.Various data carrier media for registers in general are discussed, of which the magnetic disc is considered most appropriate. General principles for programs capable of performing insertions, deletions and other modifications in the data base are outlined as well as the principles for the programs in the DCCR.The individual records should preferably be identified by aid of a central person registration number (CPR) rather than by name. The data should be stored and sorted by this identification in order to facilitate retrieval of a desired record. The structure of the records is discussed with regard to prevention of the occurrence of certain errors as well as the optimization of processing.Flexibility and economy of space are achieved by using programs able to handle records of unequal length, and problems occurring in connection with this are discussed. The question of how to protect sensitive data is dealt with, and two different methods used in the DCCR are outlined. Programs capable of analyzing karyotypes with the purpose of recognizing various cytogenetic syndromes have been developed for use in the DCCR. Various examples of computing times of typical program runs are presented.
Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients
Authors: Norio Reijo , Koskiniemi Marjaleena 
Published: July 2010

In 107 Finnish patients with progressive myoclonus epilepsy (PME), belonging to 74 families, autosomal recessive inheritance was evident. The sex ratio was 48:51, the corrected proportion of affected sibs being 0.260. Of 68 marriages 15, or 22 %, were consanguineous; several of the parents were related and the geographical distribution was of the uneven type typical of young, isolated populations in Finland. The incidence in Finland was estimated to exceed 1:20,000.The clinical picture in the Finnish PME patients was uniform, being identical with that of Unverricht's and Lundborg's patients, but clearly distinct from Lafora disease. The following classification of PME is proposed: (1) PME, Lafora type: onset of grand mal attacks and/or myoclonus around the 15th year of life; rapid and severe mental deterioration, often with psychotic symptoms; short survival; histological finding of Lafora bodies; autosomal recessive inheritance. (2) PME, Unverricht‐Lundborg type: onset around the 10th year of life; severity variable, progressive invalidity from myoclonic features associated with mild mental symptoms, time of survival variable, “degenerative” histological changes; autosomal recessive inheritance. (3) Autosomal dominant or otherwise atypical cases of PME.The importance of accurate diagnosis is stressed.
Visual classification of banded human chromosomes
Authors: Lundsteen Claes , Granum Erik 
Published: July 2010

Band transition profiles (BT‐profiles) representing extracted band pattern features of 898 density profiles of banded chromosomes were classified and karyotyped by a cytogeneticist in order to investigate how much information was lost by substituting for the original density profiles their extracted features. The results were evaluated and compared with visual classification and karyotyping of the same 898 density profiles from which the BT‐profiles were derived.Six per cent errors were made in classification of isolated BT‐profiles and 0.7 % errors were made in karyotyping BT‐profiles. These error rates were comparable to the corresponding error rates in classifying and karyotyping density profiles, which were 5 % and 0.5 %, respectively.It is concluded that most of the important band pattern information of the density profiles is retained in the BT‐profiles, and it is supposed that the condensed BT‐sequences (from which the BT‐profiles are derived) constitute a sufficient and appropriate basis for automated karyotyping.
Polymorphism of apolipoprotein E
Authors: Utermann G. , Vogelberg K. H. , Steinmetz A. , Schoenborn W. , Pruin N. , Jaeschke M. , Hees M. , Canzler H. 
Published: July 2010

Apolipoprotein E from human serum shows a genetic polymorphism determined by two autosomal codominant alleles, Apo En and Apo Ed. Homozygosity for the gene Apo Ed (phenotype Apo E‐D) results in primary dysbetalipoproteinemia, but only some individuals with this phenotype develop gross hyperlipidemia (hyperlipoproteinemia type III). Vertical transmission of dysbetalipoproteinemia represents pseudodominance due to the high frequency of the gene Apo Ed. Dysbetalipoproteinemia is already expressed in childhood.To assess the influence of other genes on the expression of hyperlipidemia in phenotype Apo E‐D, comparative studies were carried out in kindreds of hypercholesterolemic (group A) and normo‐ or hypocholesterolemic probands with dysbetalipoproteinemia (group B). This demonstrated the occurrence of familial (non‐type III) forms of hyperlipidemia in group A but not in group B kindreds. Distribution of lipoprotein pheno‐types in five of the group A kindreds was consistent with the occurrence of familial combined hyperlipidemia. Apo E phenotypes and hyperlipidemia segregated independently.It is concluded that primary dysbetalipoproteinemia is a frequent monogenic variant of lipoprotein metabolism, but not a disease. Coincidence in one individual of genes for this specific dyslipoproteinemia with any of the genes for monogenic or polygenic forms of familial hyperlipidemia results in hyperlipoproteinemia type III. Hence hyperlipoproteinemia type III is caused by at least two non‐allelic genes and is a polygenic disorder.
Polymorphism of apolipoprotein E
Authors: Utermann G. , Pruin N. , Steinmetz A. 
Published: July 2010

The two autosomal codominant alleles of the Apo E‐N/D polymorphism, Apo E and Apo E(1, have a considerable influence on plasma lipid levels and distribution in man.Serum cholesterol levels are highest in phenotype Apo E‐N, intermediate in phenotype Apo E‐ND, and low in phenotype Apo E‐D. Contrary VLDL‐cholesterol is highest in phenotype Apo E‐D, intermediate in heterozygotes, and lowest in phenotype Apo E‐N. Serum‐triglyceride, VLDL‐triglyceride and the ratio of VLDL‐cholesteroI/serum‐triglyceride are also intermediate in phenotype Apo E‐ND between the two opposite homozygous groups. 10 % of heterozygous Apo E‐ND subjects exhibited a β‐VLDL subfraction compared to 0.8 % in phenotype Apo E‐N and 100%in Apo E‐D.Hence the three phenotypic groups exhibit metabolic differencesin vivo, and the gene Apo E'l has a mild dyslipoproteincmic effect even in a single dose. The Apo E‐N/D polymorphism may therefore be a major influence on the occurrence of arteriosclerotic vascular disease in man.
Analysis of a follow‐up study of genetic counseling
Authors: Abramovsky Idida , Godmilow Lynn , Hirschhorn Kurt , Smith Harry 
Published: July 2010

A follow‐up study of 212 families for whom genetic counseling had been provided was performed to assess the effectiveness of the non‐directive genetic counseling service at the Mount Sinai Medical Center in New York City. The preliminary results have been reported previously (Godmilow & Hirschhorn 1977). Of those families surveyed, 72% responded. Adequate recall of the genetic information was demonstrated by 74% of those responding, and 80% described their counseling experience as favorable. A direct relationship was noted between the degree of satisfaction and whether or not the counselees received the mode of counseling they preferred, i.e., individual versus team. Sixty‐two percent of those counselees reaching a procreative decision indicated that genetic counseling had influenced their decision making. A significant correlation was noted between the magnitude of the occurrence or recurrence risk and the procreative decisions reached. However, some decisions were modified by the counselees' subjective interpretation of the burden associated with the disorder in question.It is concluded that follow‐up of genetic counseling by questionnaire, together with statistical analysis of the data received, can provide the genetic center with valuable information regarding strengths and weaknesses of the counseling program and can suggest ways to improve the counseling process and thereby enhance its effectiveness.
Monoamine oxidase, phenylethylamine, norepinephrine and schizophrenia
Authors: Wyatt Richard J. , Karoum Farouk , Stoff David M. , Kleinman Joel E. , Gillin J. Christian , Jeste Dilip V. , Potkin Steven G. 
Published: July 2010

SummaryThe chain of events from decreased MAO activity in the peripheral blood of certain schizophrenic patients, particularly paranoid patients, to in creased concentrations of PEA, to increased NE and NE turnover in the brain of schizophrenic patients, may prove not to be as closely linked as the current hypothesis and available data suggest. Nevertheless, the notion that this chain exists is testable and provides an integrated hypothesis of etiology for a subgroup of schizophrenic patients.
Low density lipoprotein receptor activity in cultured fibroblasts from subjects with or without ischemic heart disease (in the absence of familial hypercholesterolemia)*
Authors: Maartmann‐Moe Kjell , Magnus Per , Børresen Anne‐Lise , Berg Kare 
Published: July 2010

Fibroblast strains from six subjects with ischemic heart disease (IHDs) were compared to strains from 43 subjects without a history of IHD (non‐IHDs), with respect to association (plasma membrane binding plus intracellular accumulation) and degradation of radio‐iodinated LDL (125I‐LDL). The subjects (25 females and 24 males) were selected on the criteria that they were twins (one from each pair), 58–61 years old, and living within 200 km of Oslo. None of them suffered from autosomal, dominant hypercholesterolemia, which is associated with reduced cell surface LDL receptor activity and increased susceptibility to IHD.There was a trend towards lower 125I‐LDL association values in strains from IHDs than in strains from non‐IHDs. The difference was not statistically significant (P%0.11). However, fibroblast degradation of 125I‐LDL was significantly lower in cells from IHDs than in cells from non‐IHDs (P = 0.009).There was a significant negative correlation between, on one hand, serum total cholesterol level and on the other fibroblast association (P%0.03) or degradation (P = 0.04) of 125I‐LDL.We have previously presented data indicating that fibroblast association of LDL may be determined by alternate genes at one single locus. Together with the present limited data, this raises the possibility that normal genes at the LDL receptor locus may render subjects more or less susceptible to ischemic heart disease.
Lp(a) lipoprotein enters cultured fibroblasts independently of the plasma membrane low density lipoprotein receptor
Authors: Maartmann‐Moe Kjell , Berg Kare 
Published: July 2010

Lp(a) lipoprotein shares the apoB antigen with low density lipoprotein (LDL). The Lp(a) antigen is unique for Lp(a) lipoprotein. Fibroblast association (i.e. plasma membrane binding plus intracellular accumulation), plasma membrane binding, intracellular accumulation and degradation of 125I‐Lp(a) lipoprotein were studied in strains from subjects with or without autosomal dominant hypercholesterolemia (HC). Subjects without HC (non‐HCs) have cell surface receptors for low density lipoprotein (LDL receptors). On the average, HC heterozygotes have half‐normal LDL receptor activity and “receptor‐negative” HC homozygous cell strains lack functional receptors.Fibroblast processing of 125I‐Lp(a) lipoprotein was compared to fibroblast processing of 125I‐LDL. LDL receptor‐dependent processing of 125I‐LDL was saturated at about 50 μg apo 125I‐LDL ml‐1 in non‐HC fibroblasts. 125I‐Lp(a) lipoprotein was, however, largely processed independently of receptor mechanisms by non‐HC cells (highest concentration examined 150 μg apo 125I‐Lp(a) lipoprotein ml‐1). Lp(a) lipoprotein did not interfere with 125I‐LDL for fibroblast association, but inhibited 125I‐LDL degradation. The interference with 125I‐LDL degradation was time dependent Only slightly higher 1251‐Lp(a) lipoprotein processing values were found in non‐HC and HC heterozygous strains than in “receptor‐negative” HC homozygous strains. However, non‐HC cells had more than tenfold higher 125I‐LDL processing values than “receptor‐negative” HC homozygous cells.
Intrafamilial correlation in Friedreich's ataxia
Authors: Winter R. M. , Harding A. E. , Baraitser M. , Bravery M. B. 
Published: July 2010

The distributions of age of onset and age of losing the ability to walk independently in patients with Friedreich's ataxia from 93 sibships are presented. Intrafamilial correlation was investigated using three methods: the Pearson product‐moment correlation coefficient and two estimates of correlation based on analysis of variance, one a maximum likelihood method and the other using a weighted mean family size. All three resulted in correlation coefficients (r) of around 0.5 for both disease parameters. The latter two methods yielded similar values just greater than 0.5 and it is considered that these are more reliable estimates of intraclass correlation as there were a variable number of family members in the sibships studied.Although the examination of intraclass correlation in Friedreich's ataxia was not highly suggestive of genetic heterogeneity, the observed proportion of first cousin marriages amongst the parents of the sibships studied was about twice the expected proportion. Overall, the data would be compatible with genetic heterogeneity if one genotype is more prevalent than others. An alternative hypothesis is that there are different modifying genes operating within different families in which Friedreich's ataxia occurs.
Cleft palate: A genetic and epidemiologic investigation
Authors: Shields Edward D. , Bixler David , Fogh‐Andersen Poul 
Published: July 2010

An examination of kindred histories of 561 Danish probands who have non‐syndromic CP has indicated that neither a multifactorial‐threshold model nor a single major locus model is completely compatible with the data. This suggests etiologic heterogeneity for CP, which was tested with kindred data.As recommended by Smith (1976), an attempt to define partially this heterogeneity within the CP phenotype was undertaken by grouping and comparing the kindred data. It is both reasonable and heuristic to propose that CP, as defined in this investigation, is composed of three groups: (1) Syndromic CP; (2) Familial CP, which appears to have an autosomal dominant component to its etiology, and (3) Non‐familial CP which, by demonstrating an increasing frequency of CP and a maternal age effect, appears to be related to environmental factors which may cause CP or other malformations.
Stimulation of the Synthesis of Ribosomal Proteins in Regenerating Rat Liver with Special Reference to the Increase in the Amounts of Effective mRNAs for Ribosomal Proteins
Authors: NABESHIMA Yo‐ichi , OGATA Kikuo 
Published: July 2010

Normal and partially hepatectomized rats were pulse labeled for 15 min with [14C]leucine and [3H]leucine respectively. Both kinds of liver homogenates were mixed and the ribosomal protein fraction was purified from the mixed homogenate by chromatographic procedures. The 3H/14C ratio of this fraction was about three times higher than that of total protein, indicating that the synthesis of ribosomal proteins is selectively increased in regenerating rat liver.
The free polysomes from normal or regenerating rat livers were incubated with [3H]leucine in the presence of regenerating rat liver supernatant. Ribosomal proteins were then purified, finally by two‐dimensional acrylamide gel electrophoresis. Biosyntheses of most of ribosomal proteins by regenerating rat liver polysomes were about 2.5 to 3.6 times higher than those by normal rat liver polysomes.
Using a wheat germ cell‐free system, the template activities of poly(A)‐containing mRNAs for ribosomal proteins were compared between normal and regenerating rat livers. The template activities at 6, 12, 18, 24 and 48 h after partial hepatectomy were about 1.3, 1.8, 2.4, 1.5 and 1.3 times higher, respectively, than the activity of normal rat liver. The extents of increase in the template activity of poly(A)‐containing mRNAs for most of individual ribosomal proteins separated by two‐dimensional gel electrophoresis were not so different at 18 h after the operation and the average template activity was 2.8 times higher than that of normal rat liver. The enhanced activity of regenerating rat liver for ribosomal protein synthesis is mainly caused by the increase in the apparent concentrations of mRNAs for ribosomal proteins.
The Role of the Light‐Harvesting Chlorophyll a/b ‐Protein Complex in Chloroplast Membrane Stacking
Authors: RYRIF Ivan J. , ANDERSON Jan M. , GOODCHILD D. J. 
Published: July 2010

The major intrinsic protein from spinach chloroplast membranes, the light‐harvesting chlorophyll a/b‐protein complex, contains two distinct polypeptides of Mr 23500 and 26000 and 31 % lipid by weight, comprising five diacyl lipids and seven chlorophylls, together with some carotenoids, per 26000‐Mr polypeptide. The chlorophyll a/b ratio is 1.1. Low‐temperature fluorescence emission spectra of the light‐harvesting complex revealed a major peak at 681 nm with a shoulder of variable intensity at 695 nm. The 695‐nm emission has been correlated with a progressive aggregation of the complex into two‐dimensional, semi‐crystalline sheets.To determine the role of the light‐harvesting complex in cation‐dependent thylakoid stacking, the purified complex has been quantitatively incorporated into liposomes containing the four major chloroplast diacyl lipids using a simple freeze‐thaw technique. The proteoliposomes appeared largely as unilamellar vesicles, with diameters between 0.1 and 0.8 μm. Freeze‐fracture analysis showed intra‐membrane particles of 8–10 nm corresponding to the incorporated complex. Both monovalent and divalent cations caused an immediate aggregation of the proteoliposomes, which was reversed at low cation concentrations and was largely inhibited by prior trypsin treatment. Since lipid vesicles themselves showed none of these effects, it is concluded that surface‐exposed polypeptide regions of the light‐harvesting complex are directly involved in thylakoid stacking in vivo.