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201. Wiskott-Aldrich syndrome in a family with Fanconi anemia

Author

Rohrer, J., Ribeiro, R.C., Auerbach, A.D., Mirro, B., and Conley, M.E.

Abstract

Thrombocytopenia may be the presenting finding for both Wiskott-Aldrich syndrome and Fanconi anemia. We examined a sibship of four boys who had features of both of these hematologic disorders. Peripheral blood lymphocytes from three of the boys demonstrated DNA instability when cultured with diepoxybutane, confirming the diagnosis of Fanconi anemia in these patients. However, results of linkage analysis and X chromosome inactivation studies were consistent with the diagnosis of Wiskott-Aldrich syndrome in two of the boys, including one of the boys with Fanconi anemia. These findings could be attributed to the occurrence of two rare genetic disorders in a single family or to an unusual variant of Fanconi anemia. The recent identification of the Wiskott-Aldrich gene permitted us to address this question directly. Epstein-Barr virus-transformed cell lines from the two boys thought to have Wiskott-Aldrich syndrome on the basis of linkage analysis failed to express transcripts for the Wiskott-Aldrich gene. Genomic DNA from these two patients demonstrated a G insertion in the tenth exon of the Wiskott-Aldrich gene, resulting in a frameshift and a premature stop codon. Surprisingly, the patient with Fanconi anemia and a null mutation in the Wiskott-Aldrich gene had typical Fanconi anemia but mild Wiskott-Aldrich syndrome. (J PEDIATR 1996;129:50-5)

Published
1996
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202. Determination of the structural requirements for palmitoylation of p63.

Author

Schweizer, A, Rohrer, J, and Kornfeld, S

Abstract

Palmitoylation of p63, a type II membrane protein localized in the endoplasmic reticulum, is induced in a reversible manner by the drug brefeldin A. To study the requirements for palmitoylation, mutant forms of p63 were expressed in COS cells and analyzed by metabolic labeling with [3H]palmitate, immunoprecipitation, and SDS-polyacrylamide gel electrophoresis. By investigating deletion and point mutations, Cys100 in the 106-amino acid cytoplasmic tail of p63 has been identified as the site of acylation. Site-directed mutagenesis of residues 99-105 together with cytoplasmic tail truncation mutants showed that the amino acids surrounding Cys100 are not critical for palmitoylation of this residue. Analysis of a chimeric construct between p63 and the plasma membrane protein dipeptidylpeptidase IV further revealed that p63 palmitoylation is not dependent on its transmembrane domain. In contrast, the six-amino acid distance between the end of the predicted transmembrane domain and the palmitoylation site was found to be essential for proper acylation of p63.

Published
1995

207. THE NAVY GROUP RORSCHACH AS A RESEARCH INSTRUMENT: RELIABILITY AND NORMS

Author

TULANE UNIV NEW ORLEANS LA URBAN LIFE RESEARCH INST, Rohrer, J. H., Hoffman, E. L., Bagby, Jr., J. W., Herrmann, Robert S., Wilkins, W. L., TULANE UNIV NEW ORLEANS LA URBAN LIFE RESEARCH INST, Rohrer, J. H., Hoffman, E. L., Bagby, Jr., J. W., Herrmann, Robert S., and Wilkins, W. L.

Published
1954

208. AN OBJECTIVE PEER EVALUATION SCALE. CONSTRUCTION AND VALIDITY

Author

TULANE UNIV NEW ORLEANS LA URBAN LIFE RESEARCH INST, HOFFMAN, E. L., ROHRER, J. H., TULANE UNIV NEW ORLEANS LA URBAN LIFE RESEARCH INST, HOFFMAN, E. L., and ROHRER, J. H.

Abstract

A study was made of peer ratings obtained by having the raters evaluate their peers on objective criteria of officer excellence. A peer evaluation scale was described in which statements describing the peer were selected on the basis of content analyses of paragraphs describing outstanding and inferior candidates for the billet of Marine Corps officers. The statements were written by enlisted marines with an average of 3.5 yr of active service. The items used in the peer evaluation scale were selected from these statements on the basis of their ability to discriminate between the men ranked first, fifth, tenth, and last, in a section of approximately 15 men. This preliminary scale was administered to a second independent group of candidates and 3 indexes for item selection purposes were calculated. These indexes were: a criterion index which was a measure of the relative agreement of the item with the criterion; a total test index, which was a measure of the relative agreement of the item with the total test score; and an item variability index, which was a measure of the relative intra-item variability. By using these 3 indexes, 20 items were segregated for use in the final scale. This refined peer evaluation was administered to an independent sample of candidates. The rank-difference correlation was found between the average peer score for a candidate and his rank position in the platoon as determined by 4 line officers. An average rho coefficient of 0.85 was obtained. Norms were determined for each platoon. A chi square test indicated homogeneity of the norms.

Published
1953

214. New results on fission cross sections in actinide nuclei using the surrogate ratio method and on conversion coefficients in triaxial strongly deformed bands in Lu-167 from ice ball and Gammasphere

Author

Beausang, C. W., Lesher, S. R., Burke, J. T., Bernstein, L. A., Phair, L., Ar, H., Gurdal, G., Ahle, L., Brenner, D. S., Michael Patten Carpenter, Clark, R. M., Crider, B., Escher, J., Fallon, P., Greene, J. P., Hartley, D. J., Hecht, A. A., Janssens, R. V. F., Lauritsen, T., Lee, I. Y., Lister, C. J., Macchiavelli, A. O., Mcmahan, M. A., Plettner, C., Rohrer, J., Seweryniak, D., Williams, E., and Zhu, S.

215. Stat5a/b contribute to interleukin 7-induced B-cell precursor expansion, but abl- and bcr/abl-induced transformation are independent of stat5

Author

Sexl V, Piekorz R, Moriggl R, Rohrer J, Mp, Brown, Kd, Bunting, Rothammer K, Martine F. Roussel, and Jn, Ihle

Subjects
B-Lymphocytes, Interleukin-7, Fusion Proteins, bcr-abl, Cell Differentiation, Genes, abl, Milk Proteins, DNA-Binding Proteins, Gene Expression Regulation, Neoplastic, Mice, Cell Transformation, Neoplastic, STAT5 Transcription Factor, Trans-Activators, Animals, Gene Deletion
Abstract

The cytokines interleukin 7 (IL-7) and interleukin 4 (IL-4) regulate lymphoid differentiation and function and activate the transcription factor Stat5. Using mice deficient for the 2 highly related transcription factors, Stat5a and Stat5b (Stat5a/b(-/-)), we investigated the role of Stat5 for B-cell differentiation, expansion, and function. Peripheral blood B cells of Stat5-deficient mice are significantly reduced, but no proliferation defects in response to various mitogenic stimuli are found. Also, IgM and IgG1 antibody production and immunoglobulin class switching are not affected. Pre- and pro-B cells of Stat5-deficient animals were found to have reduced responses to IL-7. Pro- and pre-B cells are the target cells of the abl oncogene and numerous studies have suggested that Stat5a/b is essential for transformation by derivatives of the Abelson (abl) gene. To assess the role of Stat5a/b in transformation, we have evaluated the ability of various abl derivatives to transform cells from Stat5a/b-deficient mice in vitro or in vivo. We demonstrate that the absence of Stat5a/b is not essential for the induction of lymphoid or myeloid tumors in vivo or on the ability to transform bone marrow cells in vitro.

218. Cerebrospinal fluid neurofilament light chain illustrates that semantic dementia is a distinctive neurodegenerative disease

Author

Meeter, L. H., Steketee, R., Salkovic, D., Vos, M., Grossman, M., Mcmillan, C., Boxer, A. L., Rojas-Martinez, J., Pijnenburg, Y. A., Sanchez-Valle, R., Diehl-Schmid, J., Santillo, A. F., Borroni, B., Galimberti, D., Rohrer, J., Synofzik, M., Mendonca, A., Rik Vandenberghe, Benussi, L., Niessen, W., Kaat, L. Donker, Teunissen, C., Bron, E., Den Berg, E., Swieten, J. C., Neurology, Epidemiology, Radiology & Nuclear Medicine, Cell biology, Medical Informatics, Immunology, and Dermatology

219. Determinants of Survival in Autopsy-Confirmed Patients with Behavioral Variant Frontotemporal Dementia (bvFTD)

Author

Rascovsky, K., Hodges, J. R., Knopman, D., Mendez, M. F., Kramer, J. H., Xie, S., Swieten, J. C., Seelaar, H., Dopper, E. G. P., Onyike, C. U., Hillis, A., Josephs, K. A., Boeve, B. F., Kertesz, A., Seeley, W. W., Rankin, K., Johnson, J. K., Gorno-Tempini, M. L., Rosen, H., Neuhaus, J., Latham, C., Lee, A. S., Kipps, C. M., Lillo, P., Piguet, O., Rohrer, J. D., Rossor, M., Warren, J. D., Fox, N. C., Galasko, D., Salmon, D. P., Black, S. E., Mesulam, M., Weintraub, S., Dickerson, B. C., Diehl-Schmid, J., Florence Pasquier, Deramecourt, V., Lebert, F., Pijnenburg, Y., Chow, T., Manes, F., Grafman, J., Cappa, S. F., Freedman, M., Miller, B. L., and Grossman, M.

220. Global initiative to identify genetic modifiers of disease onset and presentation in patients with progranulin mutations

Author

Pottier, C., Serie, D. J., Huey, E. D., Neumann, M., Johannsen, P., Slawek, J., Finger, C., Lippa, C. F., White, C. L. I., Beach, T. G., Kwok, J. B., Sorbi, S., Ghetti, B., Mesulam, M. M., Bigio, E. H., Sanchez-Valle, R., Pickering-Brown, S., Bruni, A., Rogaeva, E., Rohrer, J. D., Graff, C., Mackenzie, I. R., Bird, T. D., Carlos Cruchaga, Swieten, J. C., Miller, B. L., Lopez Munain, A., Deerlin, V. M., Rossi, G., Benussi, L., Borroni, B., Galimberti, D., Ghidoni, R., Le Ber, I., Biernacka, J., Dickson, D. W., Graff-Radford, N. R., Boeve, B. F., and Rademakers, R.

221. Genetic analysis suggests lysosomal and immune system involvement in frontotemporal dementia

Author

Ferrari, R., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Brooks, W. S., Eld, P. R. Schofi, Halliday, G. M., Hodges, J. R., Piguet, O., Bartley, L., Thompson, E., Haan, E., Hernandez, I., Ruiz, A., Boada, M., Borroni, B., Padovani, A., Cruchaga, C., Cairns, N. J., Benussi, L., Binetti, G., Ghidoni, R., Forloni, G., Galimberti, D., Fenoglio, C., Serpente, M., Scarpini, E., Clarimon, J., Lleo, A., Blesa, R., Waldoe, M. Landqvist, Nilsson, K., Nilsson, C., Mackenzie, I. R. A., Hsiung, G., Mann, D. M. A., Grafman, J., Morris, C. M., Attems, J., Ths, T. D. Griffi, Mckeith, I. G., Thomas, A. J., Pietrini, P., Huey, E. D., Wassermann, E. M., Baborie, A., Jaros, E., Tierney, M. C., Pastor, P., Razquin, C., Ortega-Cubero, S., Alonso, E., Perneczky, R., Diehl-Schmid, J., Alexopoulos, P., Kurz, A., Rubino, I. Rainero E., Pinessi, L., Rogaeva, E., St George-Hyslop, P., Rossi, G., Tagliavini, F., Giaccone, G., Rowe, J. B., Schlachetzki, J. C. M., Uphill, J., Collinge, J., Mead, S., Danek, A., Deerlin, V. M., Grossman, M., Trojanowski, J. Q., Zee, J., Deschamps, W., Langenhove, T., Cruts, M., Broeckhoven, C., Cappa, S. F., Le Ber, I., Hannequin, D., Golfier, V., Vercelletto, M., Alexis Brice, Nacmias, B., Sorbi, S., Bagnoli, S., Piaceri, I., Nielsen, J. E., Hjermind, L. E., Riemenschneider, M., Mayhaus, M., Ibach, B., Gasparoni, G., Pichler, S., Gu, W., Rossor, M. N., Fox, N. C., Warren, J. D., Spillantini, M. G., Morris, H. R., Rizzu, P., Heutink, P., Snowden, J. S., Rollinson, S., Richardson, A., Gerhard, A., Bruni, A. C., Maletta, R., Frangipane, F., Cupidi, C., Bernardi, L., Anfossi, M., Gallo, M., Conidi, M. E., Smirne, N., Rademakers, R., Baker, M., Dickson, D. W., Graff-Radford, N. R., Petersen, R. C., Knopman, D., Josephs, K. A., Boeve, B. F., Parisi, J. E., Seeley, W. W., Miller, B. L., Karydas, A. M., Rosen, H., Swieten, J. C., Dopper, E. G. P., Seelaar, H., Pijnenburg, Y. A., Scheltens, P., Logroscino, G., Capozzo, R., Novelli, V., Puca, A. A., Franceschi, M., Postiglione, A., Milan, G., Sorrentino, P., Kristiansen, M., Chiang, H. H., Graff, C., Pasquier, F., Rollin, A., Deramecourt, V., Lebert, F., Kapogiannis, D., Ferrucci, L., Pickering-Brown, S., Hardy, J., Momeni, P., and Singleton, A. B.

223. Increased neurofilament light chain correlates with decreased white matter integrity in presymptomatic and symptomatic granulin carriers

Author

Panman, J. L., Meeter, L. H. H., Dopper, E. G. P., Jiskoot, L. C., Bouts, M. J. M., Moller, C., Minkelen, R., Sanchez-Valle, R., Balasa, M., Graff, C., Oijerstedt, L., Jelic, V., Benussi, L., Ghidoni, R., Binetti, G., Barbara, B., Padovani, A., Galimberti, D., Scarpini, E., Fenoglio, C., Laforce, R. J., Vandenberghe, R., Le Ber, I., Lamari, F., Otto, M., Rohrer, J. D., Cash, D. M., Serge A. Rombouts, Teunissen, C. E., Papma, J. M., and Swieten, J. C.

224. Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia

Author

Bonham, Luke W., Steele, Natasha Z. R., Karch, Celeste M., Broce, Iris, Geier, Ethan G., Wen, Natalie L., Momeni, Parastoo, Hardy, John, Miller, Zachary A., Gorno-Tempini, Maria Luisa, Hess, Christopher P., Lewis, Patrick, Miller, Bruce L., Seeley, William W., Manzoni, Claudia, Desikan, Rahul S., Baranzini, Sergio E., Ferrari, Raffaele, Yokoyama, Jennifer S., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Schofield, P. R., Halliday, G. M., Hodges, J. R., Piguet, O., Bartley, L., Thompson, E., Haan, E., Hernández, I., Ruiz, A., Boada, M., Borroni, B., Padovani, A., Cruchaga, C., Cairns, N. J., Benussi, L., Binetti, G., Ghidoni, R., Forloni, G., Albani, D., Galimberti, D., Fenoglio, C., Serpente, M., Scarpini, E., Clarimón, J., Lleó, A., Blesa, R., Landqvist Waldö, M., Nilsson, K., Nilsson, C., Mackenzie, I. R. A., Hsiung, G. -Y. R., Mann, D. M. A., Grafman, J., Morris, C. M., Attems, J., Griffiths, T. D., McKeith, I. G., Thomas, A. J., Pietrini, P., Huey, E. D., Wassermann, E. M., Baborie, A., Jaros, E., Tierney, M. C., Pastor, P., Razquin, C., Ortega-Cubero, S., Alonso, E., Perneczky, R., Diehl-Schmid, J., Alexopoulos, P., Kurz, A., Rainero, I., Rubino, E., Pinessi, L., Rogaeva, E., St George-Hyslop, P., Rossi, G., Tagliavini, F., Giaccone, G., Rowe, J. B., Schlachetzki, J. C. M., Uphill, J., Collinge, J., Mead, S., Danek, A., Van Deerlin, V. M., Grossman, M., Trojanowski, J. Q., Van Der Zee, J., Cruts, M., Van Broeckhoven, C., Cappa, S. F., Leber, I., Hannequin, D., Golfier, V., Vercelletto, M., Brice, A., Nacmias, B., Sorbi, S., Bagnoli, S., Piaceri, I., Nielsen, J. E., Hjermind, L. E., Riemenschneider, M., Mayhaus, M., Ibach, B., Gasparoni, G., Pichler, S., Gu, W., Rossor, M. N., Fox, N. C., Warren, J. D., Spillantini, M. G., Morris, H. R., Rizzu, P., Heutink, P., Snowden, J. S., Rollinson, S., Richardson, A., Gerhard, A., Bruni, A. C., Maletta, R., Frangipane, F., Cupidi, C., Bernardi, L., Anfossi, M., Gallo, M., Conidi, M. E., Smirne, N., Rademakers, R., Baker, M., Dickson, D. W., Graff-Radford, N. R., Petersen, R. C., Knopman, D., Josephs, K. A., Boeve, B. F., Parisi, J. E., Karydas, A. M., Rosen, H., Van Swieten, J. C., Dopper, E. G. P., Seelaar, H., Pijnenburg, Y. A. L., Scheltens, P., Logroscino, G., Capozzo, R., Novelli, V., Puca, A. A., Franceschi, M., Postiglione, A., Milan, G., Sorrentino, P., Kristiansen, M., Chiang, H. -H., Graff, C., Pasquier, F., Rollin, A., Deramecourt, V., Lebouvier, T., Kapogiannis, D., Ferrucci, L., Pickering-Brown, S., and Singleton, A. B.

Subjects
631/208/199, 692/617/375/132, 692/617/375/365, article, 38/39, 631/208/205, 3. Good health
Abstract

The semantic variant of primary progressive aphasia (svPPA) is a clinical syndrome characterized by neurodegeneration and progressive loss of semantic knowledge. Unlike many other forms of frontotemporal lobar degeneration (FTLD), svPPA has a highly consistent underlying pathology composed of TDP-43 (a regulator of RNA and DNA transcription metabolism). Previous genetic studies of svPPA are limited by small sample sizes and a paucity of common risk variants. Despite this, svPPA’s relatively homogenous clinicopathologic phenotype makes it an ideal investigative model to examine genetic processes that may drive neurodegenerative disease. In this study, we used GWAS metadata, tissue samples from pathologically confirmed frontotemporal lobar degeneration, and in silico techniques to identify and characterize protein interaction networks associated with svPPA risk. We identified 64 svPPA risk genes that interact at the protein level. The protein pathways represented in this svPPA gene network are critical regulators of RNA metabolism and cell death, such as SMAD proteins and NOTCH1. Many of the genes in this network are involved in TDP-43 metabolism. Contrary to the conventional notion that svPPA is a clinical syndrome with few genetic risk factors, our analyses show that svPPA risk is complex and polygenic in nature. Risk for svPPA is likely driven by multiple common variants in genes interacting with TDP-43, along with cell death,x` working in combination to promote neurodegeneration.

226. Geographic variation in primary care visits in Iowa

Author

Briggs, L. W., Rohrer, J. E., Ludke, R. L., Peter Hilsenrath, and Phillips, K. T.

Subjects
Adult, Male, Geography, Primary Health Care, Office Visits, Blue Cross Blue Shield Insurance Plans, Iowa, Health Services Accessibility, Catchment Area, Health, Physicians, Small-Area Analysis, Ambulatory Care, Humans, Regression Analysis, Female, Health Services Research, Health Expenditures, Diagnosis-Related Groups, Research Article
Abstract

OBJECTIVE. This study investigates the determinants of primary care office visit rates. DATA SOURCES. Blue Cross and Blue Shield of Iowa subscriber information was sorted by residence into geographic health service areas. Cost-sharing information was also obtained from Blue Cross. Physician supply data were obtained from The University of Iowa, Office of Community-Based Programs. Hospital data were reported by the Iowa Hospital Association. STUDY DESIGN. Cases were classified into ambulatory care groups (ACGs). Use rates were computed for each group in each service area. Ordinary least squares regression models were developed to model geographic variation in each ACG-specific primary care visit rate. PRINCIPAL FINDINGS. Regression models were not significant for five out of eleven ACGs studied. Out-of-pocket expense significantly affected utilization in three out of six. The number of primary care practices per capita had a significant effect on utilization in two ACGs. The supply of hospital outpatient services was significant in one ACG. CONCLUSIONS. Study findings reveal that some ACGs are price-sensitive and some are not. Policies aimed at changing levels of primary care use should taken into account whether varying cost-sharing will influence consumer behavior in the desired direction.

227. Dissection of a novel molecular determinant mediating Golgi to trans -Golgi network transition

Author

Schaub, B., Berger, E., Rohrer, J., Schaub, B., Berger, E., and Rohrer, J.

Abstract

Two major functions of the Golgi apparatus (GA) are formation of complex glycans and sorting of proteins destined for various subcellular compartments or secretion. To fulfill these tasks proper localization of the accessory proteins within the different sub-compartments of the GA is crucial. Here we investigate structural determinants mediating transition of the two glycosyltransferases β-1,4- galactosyltransferase 1 (gal-T1) and the α-1,3-fucosyltransferase 6 (fuc-T6) from the trans-Golgi cisterna to the trans-Golgi network (TGN). Upon treatment with the ionophore monensin both glycosyltransferases are found in TGN-derived swollen vesicles, as determined by confocal fluorescence microscopy and density gradient fractionation. Both enzymes carry a signal consisting of the amino acids E5P6 in gal-T1 and D2P3 in fuc-T6 necessary for the transition of these glycosyltransferases from the trans-Golgi cisterna to the TGN, but not for their steady state localization in the trans-Golgi cisterna

249. Review: Clinical, genetic and neuroimaging features of frontotemporal dementia.

Author

Convery, R., Mead, S., and Rohrer, J. D.

Subjects
*FRONTOTEMPORAL dementia, *NEURODEGENERATION, *BRAIN imaging, *AMYOTROPHIC lateral sclerosis, *ALZHEIMER'S disease
Abstract

Frontotemporal dementia (FTD) is a heterogeneous group of disorders causing neurodegeneration within a network of areas centred on the frontal and temporal lobes. Clinically, patients present with behavioural symptoms (behavioural variant FTD) or language disturbance (primary progressive aphasia), although there is an overlap with motor neurone disease and atypical parkinsonian disorders. Whilst neuroimaging commonly reveals abnormalities in the frontal and temporal lobes, a closer review identifies a more complex picture with variable asymmetry of neuronal loss, widespread subcortical involvement and in many cases more posterior cortical atrophy. An autosomal‐dominant genetic disorder is found in around a third of people with mutations in progranulin, C9orf72 and the microtubule‐associated protein tau being the commonest causes. In the other two‐thirds, the disorder is sporadic, although recent genome‐wide association studies have started to identify genetic risk factors within this group. Much of this knowledge has been understood only in the past 10 years and so this review will discuss the current knowledge about the clinical, genetic and neuroimaging features of FTD. [ABSTRACT FROM AUTHOR]

Published
2019
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250. Transient Horner’s syndrome during lumbar epidural anaesthesia.

Author

Rohrer, J. D. and Schapira, A. H.

Subjects
*EPIDURAL analgesia, *PREGNANCY complications, *NEUROLOGICAL disorders, *ETIOLOGY of diseases, *PREVENTIVE medicine
Abstract

Epidural analgesia is a common procedure during labour. Neurological complications during pregnancy and labour in particular can indicate serious underlying pathology that may require urgent intervention to prevent permanent damage. The development of Horner’s syndrome may, for instance indicate a variety of acute neurological conditions including carotid dissection. We describe a patient who developed Horner’s syndrome during epidural anaesthesia. We discuss possible causes and emphasize that this may have a benign aetiology and following a careful clinical evaluation, may not require any investigation. [ABSTRACT FROM AUTHOR]

Published
2008
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