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Prolactin (PRL) has been reported to stimulate citrate production and the activity of mitochondrial aspartate aminotransferase (mAAT) and its precursor form pmAAT in prostate epithelial cells. The phorbol ester 12-O-tetradecanoylphorbol 13-acetate (TPA) caused the same result as PRL, which suggests that the PRL effect ... | US |
The minimal promoter of rat thyroglobulin (TG) gene (168 bp) was fused with bacterial chloramphenicol acetyltransferase (CAT) gene, and transgenic mice carrying the TGCAT gene were produced. The minimal promoter is sufficient for thyroid-specific and hormone-dependent expression of TGCAT in transgenic mice. Deletion of... | US |
The antiestrogen tamoxifen has been successfully used to control estrogen receptor (ER) and progesterone receptor positive breast cancer. However, the development of antiestrogen resistance is frequently observed in patients following long term treatment. We have studied the development of antiestrogen resistance in vi... | US |
Investigations were initiated to examine the rate of imbalances in carnitine metabolism in the pathogenesis of diabetic vascular changes in the retina, peripheral nerves, aorta and kidney. It appears that glucose/diabetes-induced vascular dysfunction and early vascular structural changes are mediated by hyperglycaemic ... | US |
To evaluate the role of perinatal thyroid status in the development of pituitary-thyroid axis regulation, we administered triiodothyronine to newborn rats for the first five days postpartum to achieve hyperthyroidism, or propylthiouracil perinatally to rat dams and pups from gestational day 17 through postnatal day 5 t... | US |
A stress scale that is brief and easy to administer would be clinically useful to assess patients' and spouses' psychological stress responses to a cardiac illness situation and provide objective data for health care recommendations. The purpose of this study was to: a) develop and test an instrument to evaluate the st... | US |
Although the mechanisms of therapeutic efficacy of cytosine arabinoside (Ara-C) are multifactorial, the pharmacodynamic basis for its cytotoxicity and therapeutic efficacy lies in its intracellular metabolism and the retention of the active metabolite, Ara-C triphosphate (Ara-CTP), which is a competitive inhibitor of D... | US |
A variety of cell biological, pharmacological, crystallographic and clinical approaches have indicated that the antimitotic drug estramustine has interesting and unusual properties. Although designed as an alkylating agent, the marked stability of the carbamate linkage to the steroid carrier molecule prevents the forma... | US |
In spite of the relatively large amount of in vitro and in vivo data indicating that, in a number of ways, cerebral arteries are pharmacologically different from peripheral arteries, the mechanisms responsible for these differences are far from clear. An understanding of these mechanisms is particularly important for a... | United Kingdom |
The polyamine biosynthetic pathway has attracted much interest as a therapeutic target. Many studies have shown the potential value of inhibitors of the first enzyme in the biosynthetic pathway, ornithine decarboxylase, which forms putrescine. In order to convert putrescine into the polyamines, spermidine and spermine,... | US |
Testicular function was studied in vivo and in vitro in adult male dy/dy and dy2J/dy2J dystrophic mice. The results demonstrate that testicular function in dy/dy mice is more affected. The basal levels of pituitary hormones measured were normal in dystrophic mice, except for the presence of hyperprolactinemia in dy/dy ... | US |
The background leading to the need for ocular toxicity testing is reviewed. Awareness of side effects of various categories of drugs (e.g., steroids and cataracts) has provided impetus for examination of many categories of compounds including ocular drugs, cosmetics and household chemicals. The standard test (Draize) u... | US |
The cornea, in addition to its refractive function for the eye, and by way of its very dense sensory innervation, serves a very important protective function for the visual organ. The cornea receives mainly sensory innervation from the first division of the trigeminal ganglion and a sparse amount of sympathetic fibers.... | US |
Epithelial wound closure following superficial corneal abrasions precipitates a complex series of cellular changes in the stroma. Transmission electron microscopy and light microscopy have demonstrated that keratocytes in the anterior stroma show prominent cytoplasmic process and granularity within an hour after this i... | US |
Surgical solutions and drugs are important in ocular surgery. These include irrigating solutions, viscoelastic substances, mydriatics and miotics, and a growing number of other agents designed to enhance intraocular surgery and its outcome. Potential for damage to the corneal endothelium and other tissues is related to... | US |
The induction of genetic damage has clear and dramatic implications for human health, with teratogenic, mutagenic, cataractogenic and carcinogenic consequences resulting from cellular chromosomal alterations in appropriate tissues. When analysing the potential of an agent to initiate genetic damage or in evaluating pos... | US |
The subconjunctival injection of commercial gentamicin, given either as a single dose or as repeated injections, caused a hyperemic conjunctival response. Simultaneously there was a toxic myopathy induced in the extraocular muscles. The overall response, followed with light microscopy, occurred as a focal infiltrate of... | US |
Urinary incontinence is a problem for over 50% of nursing home residents, but it can respond to toileting programs. Nursing home staff, however, do not always follow the toileting schedules. Dimensional analysis of research logs that were kept during the implementation of an individualized toileting regimen for inconti... | US |
Plasmid pRSVL persisted and expressed luciferase for at least 19 months in mouse skeletal muscle after intramuscular injection. Other injected plasmids also stably expressed long-term suggesting that any plasmid DNA could stably persist and express in muscle. Plasmid DNA was demonstrated by quantitative PCR in some of ... | US |
Fragile X syndrome is the most frequent form of inherited mental retardation and segregates as an X-linked dominant with reduced penetrance. Recently, we have identified the FMR-1 gene at the fragile X locus. Two molecular differences of the FMR-1 gene have been found in fragile X patients: a size increase of an FMR-1 ... | US |
The Lesch-Nyhan disease is caused by an almost complete lack of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Partial HPRT-deficiency, associated with less severe phenotype, has also been identified. We have characterized mutations occurring in HPRT cDNA isolated from patients with HPRT-deficiency w... | US |
We report the biochemical and molecular characterization of two new transthyretin (TTR) variants in two Italian families with hereditary amyloidosis. Both families presented neuropathy and cardiomyopathy but they differ in other clinical features. These TTR variants were previously detected by isoelectric focusing (IEF... | US |
Mutations leading to hemophilia A by substitution of amino acids in coagulation factor VIII may provide important clues to the structure and function of this large and enigmatic protein. To efficiently find missense mutations, hemophiliacs with mild and moderately severe forms of the disease were surveyed. DNA samples ... | US |
Clinical manifestations in patients with carbonic anhydrase (CA) II deficiency include osteopetrosis, renal tubular acidosis, and cerebral calcification. Of the 39 reported cases of the carbonic anhydrase II deficiency syndrome, 72% were patients from North African and Middle Eastern countries, most, if not all, of who... | US |
Gyrate atrophy of the choroid and retina (GA) is an autosomal recessive disorder in which a deficiency of the mitochondrial matrix enzyme ornithine aminotransferase (OAT) leads to progressive blindness. Previously, we and others have reported a number of missense mutations and splice defects in the OAT gene associated ... | US |
Following the birth of two infants with Tay-Sachs disease (TSD), a non-Jewish, Pennsylvania Dutch kindred was screened for TSD carriers using the biochemical assay. A high frequency of individuals who appeared to be TSD heterozygotes was detected (Kelly et al., 1975). Clinical and biochemical evidence suggested that th... | US |
Tay-Sachs disease (TSD) is an autosomal recessive genetic disorder resulting from mutation of the HEXA gene encoding the alpha-subunit of the lysosomal enzyme, beta-N-acetylhexosaminidase A (Hex A). We have discovered that a Tay-Sachs mutation, IVS-9 + 1 G-->A, first detected by Akli et al. (Genomics 11:124-134, 1991),... | US |
The Marfan syndrome is an autosomal dominant heritable disorder of connective tissue with prominent involvement of the ocular, skeletal, and cardiovascular systems. The gene on chromosome 15 encoding fibrillin (FBN1), a 350-kDa glycoprotein component of the extracellular microfibril, is the site of defect in most, if n... | US |
The direct sequencing of the human type II procollagen (COL2A1) gene from polymerase chain reaction (PCR)-amplified genomic DNA is described. Thirty-two regions of the COL2A1 gene were asymmetrically amplified with intron primers which were specifically chosen to amplify a region spanning 500 to 800 bp of sequence enco... | US |
The low density lipoprotein (LDL) receptor is a cell surface transmembrane protein that mediates the uptake and lysosomal degradation of plasma LDL, thereby providing cholesterol to cells. Mutations disrupting the function of this receptor produce autosomal dominant familial hypercholesterolemia (FH). Affected individu... | US |
Proteins from U1 and U2 small nuclear ribonucleoprotein (snRNP) particles, which are common targets of autoantibodies found in some rheumatic diseases, were analysed for the presence of glycans. A glycan detection assay revealed that the U1-specific proteins 68K and A and the U2-specific protein B" are glycosylated. Ho... | US |
It is widely believed that autoimmunity is an integral part of the immune system, and that genetic, immunologic, hormonal, environmental and other factors contribute to the pathogenesis of autoimmune disease. Thus, autoimmune disease may represent an abnormal expression of immune functions instead of loss of tolerance ... | US |
Accurate diagnosis of central nervous system (CNS) lupus remains difficult, especially when the manifestations are of subtle cognitive and affective changes. This pilot study reports on the use of I-123 iofetamine single photon emission computerized tomography (SPECT) scans in 18 such patients with documented systemic ... | US |
There are many causes of malar erythema besides the classic butterfly rash of acute cutaneous lupus erythematosus (LE). Twenty-one patients (6.7% of new patient visits) referred to a dermatology department-based rheumatic skin disease subspecialty clinic over a 5-year period in whom a diagnosis of cutaneous LE had been... | US |
Two sisters had autoimmune responses to the U1RNP particle that were quantitatively similar and/or identical in molecular characteristics. No other autoantibodies were demonstrable. Both sisters immunoprecipitated only U1RNA, had a reaction of identity in gel diffusion, bound the 68-kDa band in HeLa cell extract in Wes... | US |
We investigated the role of immunoglobulin isotypes in the exacerbation of lupus nephritis associated with exposure to bacterial lipopolysaccharide. The data indicate that enhanced polyclonal B-cell activation and exacerbated autoimmune disease evoked by lipopolysaccharide are associated with an increase in the concent... | US |
Aniridia is an inherited ocular disorder of variable expressivity characterized by iris hypoplasia. A candidate aniridia gene, AN, which is the human homologue of the mouse Pax-6 gene, has recently been isolated by positional cloning from the WAGR region of 11p13. Here we describe mutations in this gene in two cases of... | United Kingdom |
Evidence is reviewed indicating that the extent of alcohol abuse alone cannot account for the neuropsychological deficits observed in alcoholics, and that alcohol abuse and head injury may interact in some patients to influence neuropsychological status. Alcohol abuse both increases the risk for head trauma and potenti... | US |
We describe a method of detecting human DNA mutations with nonradioactive, biotinylated allele-specific oligonucleotide probes. This method can detect seven different mutations in the butyrylcholinesterase, cystic fibrosis, and N-acetyltransferase genes under identical assay conditions. This indicates that it may be us... | US |
A tomato (Lycopersicon esculentum) gene (GAST1) that encodes an RNA whose abundance increases > 20-fold in shoots of the GA-deficient gib1 mutant following spraying with GA3 has been characterized. An increase in GAST1 RNA levels is detectable 2 h after treatment and levels continue to increase for at least an addition... | US |
Terpenoid cyclases catalyse the cyclization of the universal acyclic precursors geranyl and farnesyl diphosphate to monoterpenes and sesquiterpenes, respectively. All such cyclases investigated to date are operationally soluble, moderately lipophilic proteins of relative molecular weight 40,000-100,000, requiring no co... | US |
Various ways in which antibiotic-producing organisms are able to resist the actions of their products are discussed. Examples are given of antibiotic inactivation and also the modification of antibiotic target sites (most notably, ribosomes) to which drugs would otherwise bind and thereby exert their usual inhibitory e... | United Kingdom |
Marine macroorganisms and microorganisms, like terrestrial species, produce a dizzying array of secondary metabolites, including terpenes, steroids, polyketides, peptides, alkaloids and porphyrins. Most of the marine metabolites are found in terrestrial species as such or have close counterparts in land-based species, ... | US |
Recent advances in molecular genetics have led to the isolation, sequencing and functional analysis of genes encoding synthases that catalyse the formation of several classes of polyketides. The structures of the genes and their protein products differ strikingly in the various examples. For Streptomyces aromatic polyk... | US |
1. Tension responses of sheep aortae were investigated when different substrates were included in the superfusing medium. The magnitude of tension development was similar whether or not 5 mM glucose was present in the medium. However, the rate of tension development was greater in the absence of glucose. 2. When 5 mM 2... | US |
1. We measured the response of macaque ganglion cells to sinusoidally modulated red and green lights as the relative phase, theta, of the lights was varied. 2. At low frequencies, red-green ganglion cells of the parvocellular (PC-) pathway with opponent inputs from middle-wavelength sensitive (M-) and long-wavelength s... | US |
1. Responses of the carotid artery of rabbits to intraluminal and abluminal administration of purinergic agonists were examined. The carotid artery was perfused in vitro and changes in diameter were recorded. 2. Intraluminal acetylcholine, ADP, and ATP produced pronounced vasodilatation, whereas abluminal acetylcholine... | US |
1. The effects of diazoxide (DZ) on synaptic transmission and upon responses to exogenously applied glutamate agonists were examined in cultured hippocampal neurons. 2. DZ reversibly increased the peak amplitude of evoked excitatory postsynaptic currents (EPSCs) to 150 +/- 100% of control and prolonged the EPSC decay t... | US |
1. The patch clamp technique was used to investigate the K+ channels in the membranes of nerve terminals in thin slices prepared from the rat posterior pituitary. 2. Depolarization of the membrane produced a high density of K+ current. With a holding potential of -80 mV, test pulses to +50 mV activated a K+ current whi... | US |
1. An in vitro aortic arch-aortic nerve preparation was used to characterize the pressure-discharge properties of aortic 'autoactive' baroreceptors (aBRs), a functionally unique group of baroreceptors that discharge continuously below pressure threshold (Pth). These units contrast to more familiar 'quiescent' BRs (qBRs... | US |
Aluminum (Al) has been determined in autopsy brain samples (20 mg, dry weight) from 10 histologically verified Alzheimer's disease (AD) patients and 10 neurologically normal controls using an improved graphite furnace atomic absorption method. The method makes use of a potassium dichromate matrix modifier to circumvent... | US |
The biological interactions between lead and calcium are complex and not well-understood, but can be demonstrated in virtually every tissue. High affinity lead-binding to intracellular calcium receptor and transport proteins as well as the involvement of lead in calcium-activated and calcium-regulating processes may pr... | US |
A knowledge of the microdistribution of lead in bone is important in order to understand the mechanisms for accumulation and release of lead. The availability of the synchrotron x-ray microscope for sensitive measurements of bone content and distribution of lead provides a valuable tool which, when combined with kineti... | US |
Interindividual variation in odor identification and olfactory sensitivity has been explained primarily with reference to age, sex and/or experiential factors. A twin study of olfaction can, therefore, substantially contribute to current research in this area. Thirty-nine monozygotic and twenty dizygotic twin pairs hav... | US |
Infants from 22 pairs of appropriate-for-gestational-age/small-for-gestational-age (AGA/SGA) same-sex twins were assessed for temperament stability between the neonatal period and 30 months of age. The evaluation of neonatal temperament included observers' ratings of irritability, resistance to soothing, activity level... | US |
Dimethyl diphenyl bicarboxylate (dimethyl-4,4'-dimethyloxy-5,6,5',6'-dimethylene-dioxy-di phe nyl-2,2'- bicarboxylate, DDB), a synthetic mimic of the natural product schizandrin C, is used in China as a hepatoprotective agent to improve the liver functions of patients with hepatitis or under cancer chemotherapy. In thi... | US |
Tested the effectiveness of a youth drug prevention program in a community setting. Boys & Girls Clubs of America's Stay SMART program, adapted from a school-based personal and social competence drug prevention program, was offered, with and without a 2-year booster program, to 13-year-old members of Boys & Girls Clubs... | US |
Compared mental health characteristics of island Puerto Ricans to three groups from the Los Angeles Epidemiologic Catchment Area Study: Mexican American immigrants, U.S.-born Mexican Americans, and Non-Hispanic whites. The Diagnostic Interview Schedule was used to obtain both diagnostic and symptom scale information ab... | US |
In a population-based case-control study of breast cancer in Tianjin, China, involving 300 cases and 300 population controls interviewed during 1985-1986, a number of strong risk factors were identified. Although average age at menarche was late by Western standards in this developing country (14.4 years), it was clear... | US |
The N-nitrosoproline (NPRO) test for in vivo nitrosation was applied in a study of 44 rural Nebraska men drinking high- or low-nitrate water from private wells. The subjects followed diets low in NPRO and nitrate for 5 days. On days 4 and 5 they avoided ascorbate-rich foods. Urine was collected for 24 h on day 4 while ... | US |
To better understand why smokers are more likely to develop cervical cancer than nonsmokers, we investigated laboratory and demographic differences between the two groups. Women between the ages of 18 and 49 who attended eleven community clinics in the San Francisco Bay Area were studied to investigate differences betw... | US |
A group of 5908 men provided serum samples during their study examination from 1967 to 1970. After a surveillance period of over 20 years, 121 incident cases of tissue-confirmed gastric cancer were identified. Their stored sera and those of 121 matched controls from the study population were tested for serum ferritin a... | US |
Molecular abnormalities of the p53 gene in chromosome 17p may be among the most commonly observed in human cancer. Their role in gastric carcinogenesis is suggested by their frequent detection in invasive adenocarcinomas. To investigate the chronology with which these abnormalities appear in the gastric carcinogenesis ... | US |
Cortisol is metabolized to 6 beta-hydroxycortisol by the human cytochrome P-450 3A4, an enzyme implicated in the critical epoxidation reactions of aflatoxin B1 and certain polycyclic aromatic hydrocarbons. A method has been developed to measure the 6 beta-hydroxycortisol:cortisol ratio in human urine by reverse-phase h... | US |
We previously reported that some Hodgkin's disease patients had elevated hprt mutant frequencies in peripheral blood lymphocytes long after cessation of therapy. To determine if these elevations in mutant frequency represent true persistently elevated mutation frequencies, we recruited for a prospective study six previ... | US |
While breast self-examination (BSE) frequency has received extensive research attention, proficiency has been less frequently addressed. Moreover, BSE proficiency among women at increased risk has not been adequately examined. Assessment of BSE proficiency is critical in determining the value of BSE with mammography an... | US |
In order to improve compliance with the National Cancer Institute's breast cancer screening guidelines, we developed a multifaceted intervention designed to alter physician screening practice. A pre-post test, two-community design was used. Primary care physicians in one community served as the control. Data were colle... | US |
A strong rationale exists for developing cancer control strategies designed to suppress or reverse the development of precancerous lesions in order to reduce the occurrence and recurrence of this disease. Whereas numerous agents have been identified that inhibit tumor development, little is known about how they work. R... | US |
In the mammalian nervous system, serotonin (5-hydroxytryptamine) binds to distinct cell surface receptor subtypes that are defined by their ligand binding and effector-coupling properties. The 5HT1c receptor is a G-protein coupled receptor that stimulates phospholipase C-catalyzed hydrolysis of phosphatidylinositol bis... | US |
The human pseudoautosomal region comprises a 2.6 megabase segment of the distal short arms of the X and Y chromosomes. Complete DNA sequence homology between the two sex chromosomes is found in this region, and is believed to be important in mediating X-Y pairing in male meiosis. The only known functional genes in this... | US |
A series of procedures including chromosome microdissection, sequence-independent PCR, Southern-blot-hybrid-selection-cloning and sequencing of microdissected DNA-library members were used to analyze DNA from a familial marker chromosome centromere and to determine the origin of the marker chromosome in the case of a l... | US |
The pharmacokinetics and pharmacodynamics of prednisolone were evaluated in normal male volunteers. Seven subjects completed 3 phases: 16.4- and 49.2-mg iv prednisolone, and a phase with no drug to assess baseline responses. Plasma concentrations of prednisolone and urine concentrations of prednisolone and 5 metabolite... | US |
To examine the relationship between the electroencephalograph (EEG) and plasma opioid concentration, one would like to collapse the high-dimensional EEG signal into a univariate quantity. Such a simplification of the EEG is desirable because a univariate quantity can be modeled using standard nonlinear regression techn... | US |
The nuclear family of FaRPs (comprising those peptides that are, on compelling evidence, homologous) appears to be restricted to the protostome invertebrate phyla: i.e. Mollusca, Arthropoda, Annelida and Nematoda. Neither the origin nor the range of the family has been definitively established. That is, no genuine homo... | US |
Antigens injected into the anterior chamber of the eye generate a deviant immune response (Anterior Chamber Associated Immune Deviation--ACAID) characterized by impaired delayed hypersensitivity and lack of complement-fixing antibodies. Both the antigen-containing eye and an intact spleen are required for ACAID inducti... | US |
Recent evidence suggests that immunological handling of antigen in the gut may be different when animals voluntarily ingest antigen in their drinking fluid. Therefore, we investigated whether the adjuvant effects of CT were evident in mice that voluntarily ingested CT together with keyhole limpet hemocyanin (KLH) in 1.... | US |
Over the period 1972-1985, 2729 cases of Hodgkin's disease were diagnosed in Los Angeles County, and 2492 were subclassified using the Rye classification. The occurrence of these cases was examined in relation to age, sex, race, place of birth, social class, occupation, and year of diagnosis. The pattern of nodular scl... | US |
The ability to obtain breast fluid by nipple aspiration was examined in relation to self-reported dietary fat intake in 1347 white and 153 black women. Study participants were between 20 and 59 years of age, were not pregnant or breastfeeding, and had no history of breast cancer. The proportion of women from whom nippl... | US |
A case-control study of the association of dietary fat and animal protein consumption with breast cancer was conducted between 1975 and 1980 on Oahu, Hawaii. Data from this study were used to explore the relation of selected foods and the interaction of nutrients and foods with other factors, such as body size, age at ... | US |
The incidence of gastric cancer has declined dramatically in the United States during this century. However, the incidence of gastric cancer among Hispanics, Blacks, and Native Americans remains 2-3-fold higher than among Whites in this country. Populations with an increased risk of gastric cancer have predominantly th... | US |
This report describes the evaluation of a chemical test for T-antigen in rectal mucus as a screening test for colon cancer. The test, called the Mucus Strip Test, detects the disaccharide residue sialic acid-free beta-D-Gal(1-->3)-D-GalNAc or T-antigen, which accumulates in mucus from malignant cells and colonic mucosa... | US |
The present study was aimed at the characterization of the major adducts formed by reaction of the metabolites of [14C]benzene with rat hemoglobin in vivo. Groups of 12-week-old male Fisher rats received i.p. injections of a single dose of 10 mmol/kg body weight or three equal daily subdoses of 3.3 mmol/kg body weight ... | US |
Brains from young (20 day old) and adult rats were used to compare myelin yields obtained by sedimentation and flotation techniques. The flotation method consistently gave approx 70% higher yields of myelin than the sedimentation method. Both myelin preparations have virtually identical protein composition as assessed ... | US |
This study employs a large population of developing rats designed to range continuously from above a normal, average weight to severely undernourished. The purpose of the study is to determine if brain myelin development is vulnerable to mild growth retardation from chronic hunger, or if brain myelin development is alt... | US |
Sense mRNA coding for bovine adrenal medulla aromatic L-amino acid decarboxylase (AADC) was expressed following microinjection into Xenopus laevis oocytes. The expressed enzyme activity was stereoselective for L-5-hydroxytryptophan and L-DOPA and blocked by NSD-1015 an inhibitor of AADC. Heating the expressed enzyme at... | US |
Digoxigenin-labeled riboprobes and in situ hybridization of choline-O-acetyltransferase mRNA, both alone and in combination with immunohistochemical procedures for the synthetic enzyme of acetylcholine, were used to map the topography of putative cholinergic neurons in the rat central nervous system. Only the anti-sens... | US |
The gene responsible for Huntington disease has been localized to a 2.5 million base pair (Mb) region between the loci D4S10 and D4S168 on the short arm of chromosome 4. As part of a strategy to clone the HD gene on the basis of its chromosomal location, we isolated genomic DNA from the HD region as a set of overlappin... | US |
Waardenburg syndrome type 1 (WS1) is an autosomal dominant disorder characterized by deafness, dystopia canthorum, heterochromia iridis, white forelock, and premature greying. A similar phenotype is caused in the mouse by mutations in the Pax-3 gene. This observation, together with comparisons of conserved syntenies in... | US |
Treacher Collins syndrome (TCOF1) is an autosomal dominant disorder of craniofacial development, the locus for which has been chromosomally localized to 5q31-34. We have isolated four hypervariable microsatellite markers (heterozygosity values range from 0.70 to 0.89) which have been mapped to distal 5q. Fifteen unrela... | US |
The exon positions located at the 5' and 3' splice sites are involved in two functions: in the accurate removal of introns from the nuclear pre-messenger RNAs and in coding for amino acids. Therefore, at least two constraints will act on the exon positions: the splicing constraint and the protein constraint. In the pre... | US |
The most frequent aneuploidies in newborns involve the autosomes 13, 18 and 21 as well as both sex chromosomes. Fluorescence in situ hybridization readily allows the detection of numerical chromosomal aberrations throughout all stages of the cell cycle. Using a multicolor fluorescence in situ hybridization approach bas... | US |
Previous analysis has refined the location of the gene for Norrie disease, a severe, X-linked, recessive neurodevelopmental disorder, to a yeast artificial chromosome subfragment of 160 kilobases (kb). This fragment was used to screen cDNA libraries from human fetal and adult retina. As a result, we have identified an ... | United Kingdom |
We describe a codon 299 mutation in the glucokinase gene in a British pedigree with maturity-onset diabetes of the young (MODY) resulting in a substitution of glycine to arginine. One out of fifty patients diagnosed with classical late-onset type 2 diabetes mellitus was also found to have this mutation. All nine relati... | United Kingdom |
To further our understanding of initiation and imprinting of X-chromosome inactivation, we have examined methylation of specific CpG sites of X-linked Pgk-1 and G6pd genes throughout female mouse development. Methylation occurs around the time of inactivation and earlier for Pgk-1, which is closer to the X-inactivation... | United Kingdom |
Prader-Willi syndrome (PWS) is associated with paternal gene deficiencies in human chromosome 15q11-13, suggesting that PWS is caused by a deficiency in one or more maternally imprinted genes. We have now mapped a gene, Snrpn, encoding a brain-enriched small nuclear ribonucleoprotein (snRNP)-associated polypeptide SmN,... | US |
The distribution of some cardiovascular risk factors in a cohort of elderly population is reported. The study population consisted of 427 males aged 71-91, examined in 1991 and belonging to the Italian rural section of the Seven Countries Study on Cardiovascular Diseases. Systolic blood pressure shows an increasing tre... | US |
Previous studies have shown degradation of cardiac structural proteins and disruption of the sarcolemma as a result of acute myocardial infarction. However, there is no evidence to date on changes in sarcolemmal membrane proteins induced by experimental subacute myocardial infarction. We studied subepicardial layers ov... | US |
The trabecular meshwork, a specialized tissue in the anterior chamber of the eye, plays a major role in the regulation of aqueous humor outflow. We studied the effects of ascorbic acid, a significant component in the aqueous humor, on gene expression of type I collagen in cultures of bovine trabecular meshwork cells. T... | US |
EGF receptors are found on the surface of most cells, usually with high and low binding affinities. To investigate functional relationships between EGF (EGF-like growth factors) and oncogenes we have characterized the expression of the epidermal growth factor receptor (EGFr) in H-Ras, v-Myc, and H-Ras-v-Myc transformed... | US |
Two commercial and four experimental composites were subjected to post-cure heat treatments of 10 min and 3 h duration immediately after light-curing. Fracture toughness, flexural modulus, microhardness and degree of conversion (FTIR) were evaluated 24 h later. The results showed that post-cure heat treatments at 120 d... | US |
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