Pubmed Text
Collection
Collection of pubmed 2024 papers. • 11 items • Updated
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9450873 | Genetic influence on the prevalence of torus palatinus. | Torus palatinus (TP) represents a benign anatomic variation. It has been suggested that genetic factors play a leading role in its occurrence. The purpose of the present study was to determine, by segregation analysis, the inheritance of TP. Data were collected from members of 37 randomly selected Israel Jewish familie... |
9450874 | Ataxia-telangiectasia without immunodeficiency: novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain. | Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by progressive ataxia, telangiectasia, sinopulmonary infections, hypersensitivity to ionizing radiation, bined immunodeficiency. Recently, the AT gene (ATM) was cloned and shown to be mutated in AT patients. In this report, mutation analysis of... |
9450875 | Clinical phenotype of desmosterolosis. | We describe a child with lethal multiple malformations and generalised accumulation of desmosterol. The infant had macrocephaly, a hypoplastic nasal bridge, thick alveolar ridges, gingival nodules, cleft palate, total anomalous pulmonary venous drainage, ambiguous genitalia, short limbs, and generalised osteosclerosis.... |
9450876 | De novo 7q36 deletion: breakpoint analysis and types of holoprosencephaly. | We report on a de novo 7q36 deletion in a 3-month-old girl with manifestations of the 7q terminal deletion syndrome. Only minimal findings of holoprosencephaly (HPE) were present since only a partial corpus callosum hypoplasia was seen on a magnetic resonance imaging scan of the brain. Extensive fluorescence in situ hy... |
9450877 | Incontinentia pigmenti in a newborn male infant with DNA confirmation. | We report on a woman with incontinentia pigmenti (IP), who had two successive term pregnancies. The first pregnancy ended in the birth of a male infant, who is alive and well at 2 years. A second liveborn male had early postnatal distress and died after 1 day of life, after a fulminating clinical course. Polymorphic mi... |
9450878 | Dyssegmental dysplasia Silverman-Handmaker type in a consanguineous Druze Lebanese family: long term survival and documentation of the natural history. | We report on a male infant born with clinical and radiographic evidence of a lethal form of dyssegmental dysplasia parable to Silverman-Handmaker type, who had a prolonged survival of more than eight months. He had ocular and central nervous system abnormalities which have not been previously described. His course incl... |
9450879 | Impact of carrier status determination for Duchenne/Becker muscular dystrophy by computer-assisted laser densitometry. | Carrier status determination for Duchenne and Becker muscular dystrophies (D/BMD), disorders caused by mutations in the dystrophin gene at Xp21, plicated by a number of factors. These include a high mutation rate and a 5-10% bination frequency across the dystrophin gene. For these reasons, linkage analysis frequently g... |
9450880 | Effect of adjustment of maternal serum alpha-fetoprotein levels in insulin-dependent diabetes mellitus. | Our objective was to determine the effect of the 20% upward adjustment of maternal serum alphafetoprotein (MSAFP) in patients with insulin-dependent diabetes mellitus (IDDM) on the number of patients that would be classified at increased risk for plicated by either Down syndrome (DS) or neural tube defect (NTD). We ret... |
9450881 | Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness. | A New Zealand and a Scottish pedigree with maternally inherited sensorineural deafness were both previously shown to carry a heteroplasmic A7445G mutation in the mitochondrial genome. More detailed clinical examination of the New Zealand family showed that the hearing loss was progressive, with the severity of the over... |
9450882 | Congenital ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis: a new genodermatosis? | Follicular atrophoderma is a rare anomaly observed mainly in the X-dominant form of chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome) and in the X-linked dominant Bazex syndrome. We report on five Emirati sibs (three girls and two boys), 4-18 years old, with normal stature, diffuse congenital ichthyosis, pa... |
9450883 | Isolated hypospadias is not associated with signs of midline closure defects. | Ten mild signs of midline closure defect and three anthropometric parameters characterizing the distance of paired organs ("hypertelorism") were investigated in 35 boys with isolated hypospadias and in 70 control children admitted for acute infections. No significant differences between the two groups were obtained. Th... |
9450884 | SMA type 2 unrelated to chromosome 5q13. | We describe two brothers with clinical and histological findings of type 2 spinal muscular atrophy (SMA) associated with small head circumference (<2%) and normal cognitive development. No survival motor neuron (SMN) or neuronal apoptosis-inhibitory protein (NAIP) deletions were detected in these sibs, and they were di... |
9450885 | New form of hidrotic ectodermal dysplasia in a Lebanese family. | We report a sister and brother born to consanguineous parents presenting with severe hypodontia, fine hair, and onychodysplasia. Five other relatives are similarly affected. parison with other ectodermal dysplasias is presented and discussed. The possibility of a new autosomal recessive form of ectodermal dysplasia is ... |
9450886 | Somatic and germ line mosaicism and mutation origin for a mutation in the L1 gene in a family with X-linked hydrocephalus. | X-linked hydrocephalus is caused by mutations in the gene for neural cell adhesion molecule L1 (L1CAM). In this report, we describe identification of a mutation in an isolated case of hydrocephalus with adducted thumbs. Tracing the origin of the mutation within the family showed a degree of somatic mosaicism in the asy... |
9450889 | Syndromal and nonsyndromal primary trigonocephaly: analysis of a series of 237 patients. | From a series of 1,713 patients with craniosynostosis hospitalized between 1976 and 1996, 237 propositi with metopic synostosis were analyzed. The prevalence of metopic synostosis was estimated in the order of 1 in 15,000 children. Family information was obtained from 184 propositi from 179 families. The male-to-female... |
9450888 | Karsch-Neugebauer syndrome in two sibs with unaffected parents. | We report on 2 sisters with Karsch-Neugebauer prising split foot and split hand anomalies in association with congenital nystagmus. These sisters share a nearly identical phenotype with the 8 previously reported instances of this disorder. Although genetic heterogeneity can not be formally excluded, most evidence sugge... |
9450887 | Lack of linkage disequilibrium between transforming growth factor alpha Taq I polymorphism and cleft lip with or without cleft palate in families from Northeastern Italy. | Cleft lip with or without cleft palate (CL +/- P) is the most frequent craniofacial malformation in different human populations and its cause is largely unknown. Several studies based on population associations have suggested that an allele mapping in the transforming growth factor alpha locus could be responsible, as ... |
9450890 | Clinical differences between North African and Iraqi Jews with familial Mediterranean fever. | Familial Mediterranean fever (FMF) is an autosomal recessive disease causing attacks of fever and serositis. The gene causing this disease, designated MEFV, was mapped to the short arm of chromosome 16, but has not yet been cloned. North African and Iraqi Jews constitute the two largest population groups suffering from... |
9450891 | Choanal atresia and hypothelia following methimazole exposure in utero: a second report. | We report on a 3-year-old boy with bilateral choanal atresia, hypoplastic nipples, and developmental delay who had been exposed to carbimazole in utero because of maternal Graves disease. bination of abnormalities and facial appearance strongly resembles that of a previously reported child exposed to methimazole (which... |
9450897 | In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function. | Mutations in the human phenylalanine hydroxylase gene (PAH) altering the expressed cDNA nucleotide sequence (GenBank U49897) can impair activity of the corresponding enzyme product (hepatic phenylalanine hydroxylase, PAH) and cause hyperphenylalaninemia (HPA), a metabolic phenotype for which the major disease form is p... |
9450904 | A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene. | We report the first deletion mutation and the first splicing defect in the lysyl hydroxylase gene in pound heterozygote patient with Ehlers-Danlos syndrome type VI with markedly reduced lysyl hydroxylase activity. Northern analysis of the RNA isolated from skin fibroblasts of the patient demonstrated the presence of a ... |
9450908 | Detection of APC mutations in stool DNA of patients with colorectal cancer by HD-PCR. | In most cases the analysis of DNA mutations in presence of a high excess of wild type DNA fail because of the low sensitivity of the performed method for mutation detection. Here we describe the new high-sensitive and non-radioactive HD-PCR method (for HeteroDuplex-PCR). In opposite to the conventional analytical appli... |
9450900 | Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblasts. | The Duarte allele (D) is a missense mutation (N314D) that produces a characteristic isoform and partial impairment of galactose-1-phosphate uridyltransferase (GALT) in human erythrocytes, fibroblasts, and transformed lymphoblasts. The position of this amino acid is distant, however, from presumptive catalytic site(s) a... |
9450899 | Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado-Joseph disease. | An expanded and unstable CAG repeat in the coding region of the MJD1 gene is the mutation responsible for spinocerebellar ataxia 3/Machado-Joseph disease. In order to determine whether there was a higher degree of instability in affected regions, the size of the expanded CAG repeat was analyzed in different regions of ... |
9450903 | Mutation analysis of interleukin-5 in an asthmatic cohort. | Interleukin-5 (IL-5) is a potential candidate gene in the pathogenesis of asthma, as it is the main cytokine controlling eosinophil activity and eosinophils are pivotal in the development of airway inflammation. Mutation detection studies were performed on the IL-5 gene and the alpha-chain of its receptor in 30 asthmat... |
9450906 | Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A-T mutations in Israel. | Ataxia-telangiectasia (A-T) is an autosomal recessive disorder characterized by neurodegeneration, immunodeficiency, cancer predisposition, and radiation sensitivity. The responsible gene, ATM, has an extensive genomic structure and encodes a large transcript with a 9.2 kb open reading frame (ORF). A-T mutations are ex... |
9450901 | Detection of p53 gene mutations in oral squamous cell carcinomas of a black African population sample. | Mutations in the p53 gene have been reported in head and neck carcinomas. We determined the p53 mutation profile in 55 oral squamous cell carcinomas (OSCCs) from a black African population sample. DNA from all the patients were investigated using PCR amplification of the p53 gene (exons 5-9), followed by heteroduplex s... |
9450905 | Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene. | X-linked recessive myotubular myopathy (XLMTM; MTM1) is a severe neonatal disorder often causing perinatal death of the affected males. The responsible gene, designated MTM1, was localized to proximal Xq28 and recently isolated. The characterization of MTM1 allowed us to screen for causing mutations in three families, ... |
9450910 | The effect of antisense oligodeoxynucleotides on nitric oxide secretion from macrophage-like cells. | Nitric oxide (NO) plays an important role in cellular signaling and host defense, and it also contributes to the deleterious effects of immune response. Until recently, the lack of specific inhibitors of various forms of nitric oxide synthase (NOS) hampered a stringent evaluation of the role played by inducible NOS (iN... |
9450907 | Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. | Hyperphenylalaninemia (HPA) may be caused by deficiency of phenylalanine hydroxylase or tetrahydrobiopterin (BH4), the essential cofactor for the aromatic amino acid hydroxylases. 6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is a major cause of BH4 deficient HPA. In this study, seven single base mutations at ... |
9450911 | Molecular and cellular characterization of baboon C-Raf as a target for antiproliferative effects of antisense oligonucleotides. | C-Raf is a an essential member of the growth factor-ras pathway and a target for intervention strategies aimed at blocking cell proliferative responses. Excessive smooth muscle proliferation is considered one cause of the arterial closure in restenosis. Because of the similarity to the human cardiovascular system, a us... |
9450912 | Effect of radionuclide linker structure on DNA cleavage by 125I-labeled oligonucleotides. | We studied the yield and distribution of DNA strand breaks produced by decay of 125I introduced into triplex-forming and duplex-forming oligodeoxyribonucleotide (ODNs) through linkers of various lengths. ODNs were prepared with 125I attached at the 5'-end with a long linker or to an internal nucleotide position with a ... |
9450913 | Inhibitory nonsequence-specific effects of cytidine homopolymers on in vivo neointimal formation. | Phosphorothioate oligodeoxynucleotides (PS oligos) manifest both antisense and G-quartet aptameric inhibitory effects on vascular smooth muscle cell (SMC) proliferation. In this study, we examined the effects of three cytidine (S-dC) homopolymers lacking any guanosines of various chain length-S-dC28, S-dC18 and S-dC12-... |
9450914 | Stereodependent inhibition of plasminogen activator inhibitor type 1 by phosphorothioate oligonucleotides: proof of sequence specificity in cell culture and in vivo rat experiments. | plementary to a fragment of human PAI-1 mRNA located upstream of the start codon and their phosphorothioate analogs were studied in cultured HUVECs as sequence-dependent inhibitors of PAI-1 expression. The activity of the random mixture of diastereomers of phosphorothioate hexadecanucleotide PS-16H has pared with that ... |
9450915 | Toxicologic effects of an oligodeoxynucleotide phosphorothioate and its analogs following intravenous administration in rats. | The aim of the present study is to evaluate the in vivo toxicologic effects of a phosphorothioate oligodeoxynucleotide (PS oligo) and three of its analogs [PS oligo containing four methylphosphonate linkages at the 3' and 5'-ends (MBO 1), PS oligo containing four 2'-O-methylribonucleosides at both the 3'- and 5'-ends (... |
9450916 | Hammerhead ribozyme activity in the presence of low molecular weight cellular extract. | Hammerhead ribozymes cleave RNA in vitro at magnesium concentrations that are not thought to be available in vivo. To search for cellular factors that could substitute for the role of magnesium, we investigated the influence of size-fractionated cell extracts on the rate of association with its target and the cleavage ... |
9450918 | Multilineage engraftment in NOD/LtSz-scid/scid mice from mobilized human CD34+ peripheral blood progenitor cells. | Peripheral blood progenitor cells (PBPCs) are now the most widely used source for hematopoietic support of patients in the autologous transplant setting and are increasingly being used for allogeneic transplantation. A reliable model to characterize the in vivo potential of various PBPC subpopulations could be valuable... |
9450919 | Variation in long-term engraftment of a large consecutive series of lambs transplanted in utero with human hematopoietic cells. | We investigated the survival and chimeric engraftment characteristics of a large consecutive series of lambs that were transplanted with human hematopoietic cells in utero. Approximately 50% of the fetal sheep survived. Neither the transplantation of human cells into fetal sheep, nor the parity of the ewe was associate... |
9450922 | In vivo adsorption of isohemagglutinins with fresh frozen plasma in major ABO-incompatible bone marrow transplantation. | Despite techniques to deplete red cells from major patible allogeneic bone marrow (BM) or to remove recipient isohemagglutinins (IHGs) before transplantation, delayed erythropoiesis and hemolysis, red cell aplasia, and increased red cell transfusion requirements may occur. Twenty-nine recipients of major patible allogr... |
9450920 | Mismatches for two major and one minor histocompatibility antigen correlate with a patient's rejection of a bone marrow graft from a serologically HLA-identical sibling. | We describe the case of a patient with chronic myeloid leukemia who rejected a bone marrow (BM) graft from a sibling donor believed to be HLA identical. Sequencing of the HLA genes showed the mother to be heterozygous for two closely related HLA haplotypes that could not be resolved by serological typing. The donor and... |
9450923 | Comparison of retroviral-mediated gene transfer into cultured human CD34+ hematopoietic progenitor cells derived from peripheral blood, bone marrow, and fetal umbilical cord blood. | Genetic alteration of stem cells ex vivo followed by bone marrow transplantation could potentially be used in the treatment of numerous diseases and malignancies. However, there are many unanswered questions as to the best source of hematopoietic cells for long-term reengraftment and the most effective way to introduce... |
9450921 | High-dose busulfan, melphalan, and thiotepa followed by autologous peripheral blood stem cell transplantation in patients with aggressive lymphoma or relapsed Hodgkin's disease. | The purpose of this study was to evaluate the efficacy of high-dose chemotherapy with busulfan (Bu), melphalan (Mel), and thiotepa (TT), and of autologous peripheral blood stem cell (PBSC) infusion in patients with aggressive non-Hodgkin's lymphoma (NHL) or relapsed Hodgkin's disease (HD). Forty patients, 23 with inter... |
9450926 | Inscuteable and numb mediate asymmetric muscle progenitor cell divisions during Drosophila myogenesis. | Each larval prises approximately 30 uniquely specified somatic muscles. These derive from muscle founders that arise as distinct sibling pairs from the division of muscle progenitor cells. We have analyzed the progenitor cell divisions of three mesodermal lineages that generate muscle (and pericardial cell) founders. O... |
9450925 | Regulation of dorsal somitic cell fates: BMPs and Noggin control the timing and pattern of myogenic regulator expression. | Previous work has indicated that signals from the neural tube, notochord, and surface ectoderm promote somitic myogenesis. Here, we show that somitic myogenesis is under negative regulation as well; BMP signaling serves to inhibit the activation of MyoD and Myf5 in Pax3-expressing cells. Furthermore, we show that the B... |
9450927 | Interaction of Agouti protein with the melanocortin 1 receptor in vitro and in vivo. | Agouti protein and Agouti-related protein (Agrp) are paracrine-signaling molecules that normally regulate pigmentation and body weight, respectively. These proteins antagonize the effects of alpha-melanocyte-stimulating hormone (alpha-MSH) and other melanocortins, and several alternatives have been proposed to explain ... |
9450930 | Evidence that Spt4, Spt5, and Spt6 control transcription elongation by RNA polymerase II in Saccharomyces cerevisiae. | Previous characterization of the Saccharomyces cerevisiae Spt4, Spt5, and Spt6 proteins suggested that these proteins act as transcription factors that modify chromatin structure. In this work, we report new genetic and biochemical studies of Spt4, Spt5, and Spt6 that reveal a role for these factors in transcription el... |
9450928 | p300 and estrogen receptor cooperatively activate transcription via differential enhancement of initiation and reinitiation. | Estrogen- and antiestrogen-regulated, AF-2-dependent transcriptional activation by purified full-length human estrogen receptor (ER) was carried out with chromatin templates in vitro. With this system, the ability of purified human p300 to function as a transcriptional coactivator was examined. In the absence of ligand... |
9450929 | DSIF, a novel transcription elongation factor that regulates RNA polymerase II processivity, is composed of human Spt4 and Spt5 homologs. | We report the identification of a transcription elongation factor from HeLa cell nuclear extracts that causes pausing of RNA polymerase II (Pol II) in conjunction with the transcription inhibitor 5,6-dichloro-1-beta-D-ribofuranosylbenzimidazole (DRB). This factor, termed DRB sensitivity-inducing factor (DSIF), is also ... |
9450931 | Cdk7 is essential for mitosis and for in vivo Cdk-activating kinase activity. | Cdk7 has been shown previously to be able to phosphorylate and activate many different Cdks in vitro. However, conclusive evidence that Cdk7 acts as a Cdk-activating kinase (CAK) in vivo has remained elusive. Adding to the controversy is the fact that in the budding yeast Saccharomyces cerevisiae, CAK activity is provi... |
9450932 | S-phase-specific activation of Cds1 kinase defines a subpathway of the checkpoint response in Schizosaccharomyces pombe. | Checkpoints that respond to DNA structure changes were originally defined by the inability of yeast mutants to prevent mitosis following DNA damage or S-phase arrest. Genetic analysis has subsequently identified subpathways of the DNA structure checkpoints, including the reversible arrest of DNA synthesis. Here, we sho... |
9450933 | Cooperative interactions between the central spindle and the contractile ring during Drosophila cytokinesis. | We analyzed male meiosis in mutants of the chickadee (chic) locus, a Drosophila melanogaster gene that encodes profilin, a low molecular weight actin-binding protein that modulates F-actin polymerization. These mutants are severely defective in meiotic cytokinesis. During ana-telophase of both meiotic divisions, they e... |
9450934 | Nucleotide excision repair and photolyase preferentially repair the nontranscribed strand of RNA polymerase III-transcribed genes in Saccharomyces cerevisiae. | A high-resolution primer extension technique was used to study the relationships between repair, transcription, and mutagenesis in RNA polymerase III transcribed genes in Saccharomyces cerevisiae. The in vivo repair of UV-induced DNA damage by nucleotide excision repair (NER) and by photoreactivation is shown to be pre... |
9450935 | The myogenic regulatory gene Mef2 is a direct target for transcriptional activation by Twist during Drosophila myogenesis. | MEF2 is a MADS-box transcription factor required for muscle development in Drosophila. Here, we show that the bHLH transcription factor Twist directly regulates Mef2 expression in adult somatic muscle precursor cells via a 175-bp enhancer located 2245 bp upstream of the transcriptional start site. Within this element, ... |
9450938 | Ion channel selectivity through stepwise changes in binding affinity. | Voltage-gated Ca2+ channels select Ca2+ peting, more abundant ions by means of a high affinity binding site in the pore. The maximum off rate from this site is approximately 1,000x slower than observed Ca2+ current. Various theories that explain how high Ca2+ current can pass through such a sticky pore all assume that ... |
9450936 | The Homothorax homeoprotein activates the nuclear localization of another homeoprotein, extradenticle, and suppresses eye development in Drosophila. | The Extradenticle (Exd) protein in Drosophila acts as a cofactor to homeotic proteins. Its nuclear localization is regulated. We report the cloning of the Drosophila homothorax (hth) gene, a homolog of the mouse Meis1 proto-oncogene that has a homeobox related to that of exd. Comparison with Meis1 finds two regions of ... |
9450939 | The interaction of Na+ and K+ in voltage-gated potassium channels. Evidence for cation binding sites of different affinity. | Voltage-gated potassium (K+) channels are multi-ion pores. Recent studies suggest that, similar to calcium petition between ionic species for intrapore binding sites may contribute to ionic selectivity in at least some K+ channels. Molecular studies suggest that a putative constricted region of the pore, which is presu... |
9450940 | Modulation of the frequency of spontaneous sarcoplasmic reticulum Ca2+ release events (Ca2+ sparks) by myoplasmic [Mg2+] in frog skeletal muscle. | The modulation by internal free [Mg2+] of spontaneous calcium release events (Ca2+ "sparks") from the sarcoplasmic reticulum (SR) was studied in depolarized notched frog skeletal muscle fibers using a laser scanning confocal microscope in line-scan mode (x vs. t). Over the range of [Mg2+] from 0.13 to 1.86 mM, decreasi... |
9450941 | Adenosine triphosphate and the late steps in calcium-dependent exocytosis at a ribbon synapse. | The ATP dependence of the kinetics of Ca2+-dependent exocytosis after flash photolysis of caged Ca2+ was studied by capacitance measurements with submillisecond resolution in single synaptic terminals of retinal bipolar neurons. After control experiments verified that bination of techniques is valid for the study of ex... |
9450942 | Rabphilin-3A: a multifunctional regulator of synaptic vesicle traffic. | We have investigated the function of the synaptic vesicle protein Rabphilin-3A in neurotransmitter release at the squid giant synapse. Presynaptic microinjection of binant Rabphilin-3A reversibly inhibited the exocytotic release of neurotransmitter. Injection of fragments of Rabphilin-3A indicate that at least two dist... |
9450943 | Activation of nicotinic acetylcholine receptors augments calcium channel-mediated exocytosis in rat pheochromocytoma (PC12) cells. | The functional effect of activating Ca2+-permeable neuronal nicotinic acetylcholine receptors (nAChRs) on vesicle secretion was studied in PC12 cells. Single cells were patch-clamped in the whole-cell configuration and stimulated with either brief pulses of nicotine to activate the Ca2+-permeable nAChRs or with voltage... |
9450944 | Activation of shaker potassium channels. I. Characterization of voltage-dependent transitions. | The conformational changes associated with activation gating in Shaker potassium channels are functionally characterized in patch-clamp recordings made from Xenopus laevis oocytes expressing Shaker channels with fast inactivation removed. Estimates of the forward and backward rates for transitions are obtained by fitti... |
9450945 | Activation of Shaker potassium channels. II. Kinetics of the V2 mutant channel. | This second of three papers, in which we functionally characterize activation gating in Shaker potassium channels, focuses on the properties of a mutant channel (called V2), in which the leucine at position 382 (in the Shaker B sequence) is mutated to valine. The general properties of V2's ionic and gating currents are... |
9450946 | Activation of Shaker potassium channels. III. An activation gating model for wild-type and V2 mutant channels. | A functional kinetic model is developed to describe the activation gating process of the Shaker potassium channel. The modeling in this paper is constrained by measurements described in the preceding two papers, including macroscopic ionic and gating currents and single channel ionic currents. These data were obtained ... |
9450947 | Time-irreversible subconductance gating associated with Ba2+ block of large conductance Ca2+-activated K+ channels. | Ba2+ block of large conductance Ca2+-activated K+ channels was studied in patches of membrane excised from cultures of rat skeletal muscle using the patch clamp technique. Under conditions in which a blocking Ba2+ ion would dissociate to the external solution (150 mM N-methyl-D-glucamine+o, 500 mM K+i, 10 microM Ba2+i,... |
9450948 | Activation and two modes of blockade by strontium of Ca2+-activated K+ channels in goldfish saccular hair cells. | Effects of internal Sr2+ on the activity of large-conductance Ca2+-activated K+ channels were studied in inside-out membrane patches from goldfish saccular hair cells. Sr2+ was approximately one-fourth as potent as Ca2+ in activating these channels. Although the Hill coefficient for Sr2+ was smaller than that for Ca2+,... |
9450949 | Ligand-insensitive state of cardiac ATP-sensitive K+ channels. Basis for channel opening. | The mechanism by which ATP-sensitive K+ (KATP) channels open in the presence of inhibitory concentrations of ATP remains unknown. Herein, using a four-state kinetic model, we found that the nucleotide diphosphate UDP directed cardiac KATP channels to operate within intraburst transitions. These transitions are not targ... |
9450951 | Evidence for four cytoplasmic dynein heavy chain isoforms in rat testis. | Recent studies have revealed the expression of multiple putative cytoplasmic dynein heavy chain (DHC) genes in several organisms, with each gene encoding a separate protein isoform. This finding is consistent with the hypothesis that different isoforms do different things, as is the case for the axonemal dyneins. Furth... |
9450952 | Characterization of the KIF3C neural kinesin-like motor from mouse. | Proteins of the kinesin superfamily define a class of microtubule-dependent motors that play crucial roles in cell division and intracellular transport. To study the molecular mechanism of axonal transport, a cDNA encoding a new kinesin-like protein called KIF3C was cloned from a mouse brain cDNA library. Sequence and ... |
9450953 | Targeting of a germ cell-specific type 1 hexokinase lacking a porin-binding domain to the mitochondria as well as to the head and fibrous sheath of murine spermatozoa. | Multiple isoforms of type 1 hexokinase (HK1) are transcribed during spermatogenesis in the mouse, including at least three that are presumably germ cell specific: HK1-sa, HK1-sb, and HK1-sc. Each of these predicted proteins contains mon, germ cell-specific sequence that replaces the porin-binding domain found in somati... |
9450954 | The Arg-Gly-Asp motif in the cell adhesion molecule L1 promotes neurite outgrowth via interaction with the alphavbeta3 integrin. | The cell adhesion molecule L1 is a potent inducer of neurite outgrowth and it has been implicated in X-linked hydrocephalus and related neurological disorders. To investigate the mechanisms of neurite outgrowth stimulated by L1, attempts were made to identify the neuritogenic sites in L1. Fusion proteins containing dif... |
9450955 | Protein C-mannosylation is enzyme-catalysed and uses dolichyl-phosphate-mannose as a precursor. | C-mannosylation of Trp-7 in human ribonuclease 2 (RNase 2) is a novel kind of protein glycosylation that differs fundamentally from N- and O-glycosylation in the protein-sugar linkage. Previously, we established that the specificity determinant of the acceptor substrate (RNase 2) consists of the sequence -x-x-W, where ... |
9450956 | Recognition signal for C-mannosylation of Trp-7 in RNase 2 consists of sequence Trp-x-x-Trp. | C2-alpha-Mannosyltryptophan was discovered in human RNase 2, an enzyme that occurs in eosinophils and is involved in host defense. It represents a novel way of attaching carbohydrate to a protein in addition to the well-known N- and O-glycosylations. The reaction is specific, as in RNase 2 Trp-7, but never Trp-10, whic... |
9450957 | The Win1 mitotic regulator is a component of the fission yeast stress-activated Sty1 MAPK pathway. | The fission yeast Sty1 mitogen-activated protein (MAP) kinase (MAPK) and its activator the Wis1 MAP kinase kinase (MAPKK) are required for cell cycle control, initiation of sexual differentiation, and protection against cellular stress. Like the mammalian JNK/SAPK and p38/CSBP1 MAPKs, Sty1 is activated by a range of en... |
9450958 | Inhibition of endosome fusion by wortmannin persists in the presence of activated Rab5. | Rab5-dependent endosome fusion is sensitive to the phosphoinositide 3-kinase inhibitor, wortmannin. It has been proposed that phosphoinositide 3-kinase activity may be required for activation of rab5 by influencing its nucleotide cycle such as to promote its active GTP state. In this report we demonstrate that endosome... |
9450959 | A specific light chain of kinesin associates with mitochondria in cultured cells. | The motor protein kinesin is implicated in the intracellular transport of organelles along microtubules. Kinesin light chains (KLCs) have been suggested to mediate the selective binding of kinesin to its cargo. To test this hypothesis, we isolated KLC cDNA clones from a CHO-K1 expression library. Using sequence analysi... |
9450960 | 14-3-3 proteins act as negative regulators of the mitotic inducer Cdc25 in Xenopus egg extracts. | Cdc25, the dual-specificity phosphatase that dephosphorylates the Cdc2-cyclin plex at mitosis, is highly regulated during the cell cycle. In Xenopus egg extracts, Cdc25 is associated with two isoforms of the 14-3-3 protein. Cdc25 plexed primarily with 14-3-3epsilon and to a lesser extent with 14-3-3zeta. The associatio... |
9450961 | The integral membrane protein snl1p is genetically linked to yeast nuclear pore complex function. | Integral membrane proteins are predicted to play key roles in the biogenesis and function of nuclear plexes (NPCs). Revealing how the transport apparatus is assembled will be critical for understanding the mechanism of nucleocytoplasmic transport. We observed that expression of the carboxyl-terminal 200 amino acids of ... |
9450962 | Dual localization of squalene epoxidase, Erg1p, in yeast reflects a relationship between the endoplasmic reticulum and lipid particles. | Squalene epoxidase, encoded by the ERG1 gene in yeast, is a key enzyme of sterol biosynthesis. Analysis of subcellular fractions revealed that squalene epoxidase was present in the microsomal fraction (30,000 x g) and also cofractionated with lipid particles. A dual localization of Erg1p was confirmed by immunofluoresc... |
9450963 | Involvement of ATP-dependent Pseudomonas exotoxin translocation from a late recycling compartment in lymphocyte intoxication procedure. | Pseudomonas exotoxin (PE) is a cytotoxin which, after endocytosis, is delivered to the cytosol where it inactivates protein synthesis. Using diaminobenzidine cytochemistry, we found over 94% of internalized PE in transferrin (Tf) -positive endosomes of lymphocytes. When PE translocation was examined in a cell-free assa... |
9450964 | RhoA-dependent phosphorylation and relocalization of ERM proteins into apical membrane/actin protrusions in fibroblasts. | The ERM proteins (ezrin, radixin, and moesin) are a group of band 4. 1-related proteins that are proposed to function as membrane/cytoskeletal linkers. Previous biochemical studies have implicated RhoA in regulating the association of ERM proteins with their membrane targets. However, the specific effect and mechanism ... |
9450965 | Overexpression of the matrix metalloproteinase matrilysin results in premature mammary gland differentiation and male infertility. | To examine the role of matrilysin (MAT), an epithelial cell-specific matrix metalloproteinase, in the normal development and function of reproductive tissues, we generated transgenic animals that overexpress MAT in several reproductive organs. Three distinct forms of human MAT (wild-type, active, and inactive) were pla... |
9450966 | M phase phosphoprotein 10 is a human U3 small nucleolar ribonucleoprotein component. | We have previously developed a novel technique for isolation of cDNAs encoding M phase phosphoproteins (MPPs). In the work described herein, we further characterize MPP10, one of 10 novel proteins that we identified, with regard to its potential nucleolar function. We show that by cell fractionation, almost all MPP10 w... |
9450967 | Activation of the p42 mitogen-activated protein kinase pathway inhibits Cdc2 activation and entry into M-phase in cycling Xenopus egg extracts. | We have added constitutively active MAP kinase/ERK kinase (MEK), an activator of the mitogen-activated protein kinase (MAPK) signaling pathway, to cycling Xenopus egg extracts at various times during the cell cycle. p42MAPK activation during entry into M-phase arrested the cell cycle in metaphase, as has been shown pre... |
9450968 | Identification of a human VPF/VEGF 3' untranslated region mediating hypoxia-induced mRNA stability. | Hypoxia is a prominent feature of malignant tumors that are characterized by angiogenesis and vascular hyperpermeability. Vascular permeability factor/vascular endothelial growth factor (VPF/VEGF) has been shown to be up-regulated in the vicinity of necrotic tumor areas, and hypoxia potently induces VPF/VEGF expression... |
9450969 | Wortmannin-sensitive phosphorylation, translocation, and activation of PLCgamma1, but not PLCgamma2, in antigen-stimulated RBL-2H3 mast cells. | In RBL-2H3 tumor mast cells, cross-linking the high affinity IgE receptor (FcepsilonRI) with antigen activates cytosolic tyrosine kinases and stimulates Ins(1,4,5)P3 production. Using plex phospholipase assays, we show that FcepsilonRI cross-linking activates both PLCgamma1 and PLCgamma2. Activation is panied by the in... |
9450970 | Proteolytic processing and Ca2+-binding activity of dense-core vesicle polypeptides in Tetrahymena. | Formation and discharge of dense-core secretory vesicles depend on controlled rearrangement of the core proteins during their assembly and dispersal. The ciliate Tetrahymena thermophila offers a simple system in which the mechanisms may be studied. Here we show that most of the core consists of a set of polypeptides de... |
9450971 | Molecular cloning and characterization of a radial spoke head protein of sea urchin sperm axonemes: involvement of the protein in the regulation of sperm motility. | Monoclonal antibodies raised against axonemal proteins of sea urchin spermatozoa have been used to study regulatory mechanisms involved in flagellar motility. Here, we report that one of these antibodies, monoclonal antibody D-316, has an unusual perturbating effect on the motility of sea urchin sperm models; it does n... |
9450973 | Embryonic temperature modulates muscle growth characteristics in larval and juvenile herring | The influence of embryonic and larval temperature regime on muscle growth was investigated in Atlantic herring (Clupea harengus L.). Eggs of spring-spawning Clyde herring were incubated at 5 degrees C, 8 degrees C or 12 degrees C until hatching and then reared until after metamorphosis at rising temperatures to simulat... |
9450972 | Genetic separation of FK506 susceptibility and drug transport in the yeast Pdr5 ATP-binding cassette multidrug resistance transporter. | Overexpression of the yeast Pdr5 ATP-binding cassette transporter leads to pleiotropic drug resistance to a variety of structurally unrelated pounds. To identify Pdr5 residues involved in substrate recognition and/or drug transport, we used bination of random in vitro mutagenesis and phenotypic screening to isolate nov... |
9450974 | Blood volume, plasma volume and circulation time in a high-energy-demand teleost, the yellowfin tuna (Thunnus albacares) | We measured red cell space with 51Cr-labeled red blood cells, and dextran space with 500 kDa fluorescein-isothiocyanate-labeled dextran (FITC-dextran), in two groups of yellowfin tuna (Thunnus albacares). Red cell space was 13.8+/-0.7 ml kg-1 (mean +/- s.e.m.) Assuming a whole-body hematocrit equal to the hematocrit me... |
9450975 | Kinematic, aerodynamic and anatomical mechanisms in the slow, maneuvering flight of pigeons | A high-speed (200 Hz) infrared video system was used in a three-dimensional analysis of pigeon wing and body kinematics to determine the aerodynamic and anatomical mechanisms they use to produce force asymmetries to effect a turn during slow (3 m s-1) flight. Contrary to our expectations, pigeons used downstroke veloci... |
9450976 | Mechanics of lung ventilation in a large aquatic salamander, siren lacertina | Lung ventilation in Siren lacertina was studied using X-ray video, measurements of body cavity pressure and electromyography of hypaxial muscles. S. lacertina utilizes a two-stroke buccal pump in which mixing of expired and inspired gas is minimized by partial expansion of the buccal cavity during exhalation and then f... |
9450977 | Non-myotendinous force transmission in rat extensor digitorum longus muscle | The extensor digitorum longus muscle (EDL) of the rat hindleg consists of four heads. The heads are named after their insertions on the digits of toes II, III, IV and V. The EDL heads share a proximal tendon and aponeurosis, but have separate distal aponeuroses and tendons. By cutting the distal tendons of selected hea... |
9450978 | Chloride transport in red blood cells of lamprey lampetra fluviatilis: evidence for a novel anion-exchange system | The existence of a furosemide-sensitive Cl- transport pathway activated by external Ca2+ and Mg2+ has been demonstrated previously in studies of Cl- influx across the lamprey erythrocyte membrane. The aim of the present study was to characterize further specific Cl- transport pathways, especially those involved in Cl- ... |
9450979 | Sound radiation by the bladder cicada cystosoma saundersii | Male Cystosoma saundersii have a distended thin-walled abdomen which is driven by the paired tymbals during sound production. The insect extends the abdomen from a rest length of 32-34 mm to a length of 39-42 mm while singing. This is plished through specialised apodemes at the anterior ends of abdominal segments 4-7, ... |
9450980 | Asymmetry of tymbal action and structure in a cicada: a possible role in the production of complex songs | The type 1 echeme of the song of the small European cicada Tympanistalna gastrica consists of a pair of loud IN-OUT pulses followed by a train of soft IN-OUT pulses. In all nine insects investigated, the right and left tymbals buckled inwards and outwards alternately, but the echeme started with the buckling of the rig... |
9450981 | Forewing movements and intracellular motoneurone stimulation in tethered flying locusts | A new optoelectronic method was used for the measurement of wing movements in tethered flying locusts. The method is based on laser light coupled into a highly flexible optical fibre fastened to a forewing. A dual-axis position-sensing photodiode, aligned to the wing hinge, revealed the flapping, i.e. up-down movement,... |
9450982 | Characterization of Na+ and Ca2+ currents in bag cells of sexually immature aplysia californica | The neurosecretory bag cells of sexually mature Aplysia californica release egg-laying hormones as part of the reproductive process after a train of action potentials termed afterdischarge. Whole-cell voltage-clamp experiments were performed in cultured cells from sexually immature A. californica to characterize the in... |
9450983 | The importance of atmospheric odours for the homing performance of pigeons in the sonoran desert of the southwestern united states | The importance of atmospheric odours for homing pigeon navigation in a desert environment was tested using birds from two lofts located in the Sonoran desert near Tucson, Arizona, USA. When released from a familiar training site, experienced control pigeons and pigeons given intranasal injections of zinc sulphate to pr... |
9450984 | Seasonal changes in the cardiovascular, respiratory and metabolic responses to temperature and hypoxia in the bullfrog rana catesbeiana | We assessed seasonal variations in the effects of temperature on hypoxia-induced alterations in the bullfrog Rana catesbeiana by measuring the heart rate, arterial blood pressure, breathing frequency, metabolic rate, blood gas levels, acid-base status and plasma glucose concentration. Regardless of the season, decrease... |
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