2,571 results on '"Johnson JO"'
Search Results
152. Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene
- Author
-
Chiò A, Borghero G, Pugliatti M, Ticca A, Calvo A, Moglia C, Mutani R, Brunetti M, Ossola I, Marrosu MG, Murru MR, Floris G, Cannas A, Parish LD, Cossu P, Abramzon Y, Johnson JO, Nalls MA, Arepalli S, Chong S, Hernandez DG, Traynor BJ, Restagno G, Battistini S, Giannini F, Ricci C, Canosa A, Gallo S, Mandrioli J, Sola P, Salvi F, Bartolomei I, Mora G, Marinou K, Papetti L, Conte A, Sabatelli M, Luigetti M, Spataro R, La Bella V, Paladino P, Caponnetto C, Volanti P., MONSURRO', Maria Rosaria, TEDESCHI, Gioacchino, Chiò, A, Borghero, G, Pugliatti, M, Ticca, A, Calvo, A, Moglia, C, Mutani, R, Brunetti, M, Ossola, I, Marrosu, Mg, Murru, Mr, Floris, G, Cannas, A, Parish, Ld, Cossu, P, Abramzon, Y, Johnson, Jo, Nalls, Ma, Arepalli, S, Chong, S, Hernandez, Dg, Traynor, Bj, Restagno, G, Battistini, S, Giannini, F, Ricci, C, Canosa, A, Gallo, S, Monsurro', Maria Rosaria, Tedeschi, Gioacchino, Mandrioli, J, Sola, P, Salvi, F, Bartolomei, I, Mora, G, Marinou, K, Papetti, L, Conte, A, Sabatelli, M, Luigetti, M, Spataro, R, La Bella, V, Paladino, P, Caponnetto, C, and Volanti, P.
- Subjects
Male ,Threonine ,Genotype ,DNA Mutational Analysis ,Mutation, Missense ,Biology ,medicine.disease_cause ,Article ,Degenerative disease ,Superoxide Dismutase-1 ,Arts and Humanities (miscellaneous) ,medicine ,Humans ,Genetic Predisposition to Disease ,Prospective Studies ,Amyotrophic lateral sclerosis ,Gene ,Aged ,Genetics ,Mutation ,Alanine ,Superoxide Dismutase ,Amyotrophic Lateral Sclerosis ,Case-control study ,Middle Aged ,medicine.disease ,Founder Effect ,DNA-Binding Proteins ,Phenotype ,Amino Acid Substitution ,Italy ,Case-Control Studies ,RNA-Binding Protein FUS ,Female ,Neurology (clinical) ,Genetic isolate ,Founder effect - Abstract
To perform an extensive screening for mutations of amyotrophic lateral sclerosis (ALS)-related genes in a consecutive cohort of Sardinian patients, a genetic isolate phylogenically distinct from other European populations.Population-based, prospective cohort study.A total of 135 Sardinian patients with ALS and 156 healthy control subjects of Sardinian origin who were age- and sex-matched to patients.Patients underwent mutational analysis for SOD1, FUS, and TARDBP.Mutational screening of the entire cohort found that 39 patients (28.7%) carried the c.1144GA (p.A382T) missense mutation of the TARDBP gene. Of these, 15 had familial ALS (belonging to 10 distinct pedigrees) and 24 had apparently sporadic ALS. None of the 156 age-, sex-, and ethnicity-matched controls carried the pathogenic variant. Genotype data obtained for 5 ALS cases carrying the p.A382T mutation found that they shared a 94-single-nucleotide polymorphism risk haplotype that spanned 663 Kb across the TARDBP locus on chromosome 1p36.22. Three patients with ALS who carry the p.A382T mutation developed extrapyramidal symptoms several years after their initial presentation with motor weakness.The TARDBP p.A382T missense mutation accounts for approximately one-third of all ALS cases in this island population. These patients share a large risk haplotype across the TARDBP locus, indicating that they have a common ancestor.
- Published
- 2011
153. A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
- Author
-
Renton, Ae, Majounie, E, Waite, A, Simón Sánchez, J, Rollinson, S, Gibbs, Jr, Schymick, Jc, Laaksovirta, H, van Swieten, Jc, Myllykangas, L, Kalimo, H, Paetau, A, Abramzon, Y, Remes, Am, Kaganovich, A, Scholz, Sw, Duckworth, J, Ding, J, Harmer, Dw, Hernandez, Dg, Johnson, Jo, Mok, K, Ryten, M, Trabzuni, D, Guerreiro, Rj, Orrell, Rw, Neal, J, Murray, A, Pearson, J, Jansen, Ie, Sondervan, D, Seelaar, H, Blake, D, Young, K, Halliwell, N, Callister, Jb, Toulson, G, Richardson, A, Gerhard, A, Snowden, J, Mann, D, Neary, D, Nalls, Ma, Peuralinna, T, Jansson, L, Isoviita, Vm, Kaivorinne, Al, Hölttä Vuori, M, Ikonen, E, Sulkava, R, Benatar, M, Wuu, J, Chiò, A, Restagno, G, Borghero, G, Sabatelli, M, Italsgen, Consortium, Heckerman, D, Rogaeva, E, Zinman, L, Rothstein, Jd, Sendtner, M, Drepper, C, Eichler, Ee, Alkan, C, Abdullaev, Z, Pack, Sd, Dutra, A, Pak, E, Hardy, J, Singleton, A, Williams, Nm, Heutink, P, Pickering Brown, S, Morris, Hr, Tienari, Pj, Traynor, Bj, Calvo, A, Cammarosano, S, Moglia, C, Canosa, A, Gallo, S, Brunetti, M, Ossola, I, Mora, G, Marinou, K, Papetti, L, Conte, A, Luigetti, M, La Bella, V, Spataro, R, Colletti, T, Battistini, S, Giannini, Fabio, Ricci, C, Caponnetto, C, Mancardi, G, Mandich, P, Salvi, F, Bartolomei, I, Mandrioli, J, Sola, P, Corbo, M, Lunetta, C, Penco, S, Monsurrò, Mr, Tedeschi, G, Conforti, Fl, Volanti, P, Floris, G, Cannas, A, Piras, V, Murru, Mr, Marrosu, Mg, Pugliatti, M, Ticca, A, Simone, I, Logroscino, G, Neuroscience Campus Amsterdam - Systems Biology of the Synapse, Neuroscience Campus Amsterdam - Neurodegeneration, Renton, Ae, Majounie, E, Waite, A, Simón Sánchez, J, Rollinson, S, Gibbs, Jr, Schymick, Jc, Laaksovirta, H, van Swieten, Jc, Myllykangas, L, Kalimo, H, Paetau, A, Abramzon, Y, Remes, Am, Kaganovich, A, Scholz, Sw, Duckworth, J, Ding, J, Harmer, Dw, Hernandez, Dg, Johnson, Jo, Mok, K, Ryten, M, Trabzuni, D, Guerreiro, Rj, Orrell, Rw, Neal, J, Murray, A, Pearson, J, Jansen, Ie, Sondervan, D, Seelaar, H, Blake, D, Young, K, Halliwell, N, Callister, Jb, Toulson, G, Richardson, A, Gerhard, A, Snowden, J, Mann, D, Neary, D, Nalls, Ma, Peuralinna, T, Jansson, L, Isoviita, Vm, Kaivorinne, Al, Hölttä Vuori, M, Ikonen, E, Sulkava, R, Benatar, M, Wuu, J, Chiò, A, Restagno, G, Borghero, G, Sabatelli, M, Italsgen, Consortium, Heckerman, D, Rogaeva, E, Zinman, L, Rothstein, Jd, Sendtner, M, Drepper, C, Eichler, Ee, Alkan, C, Abdullaev, Z, Pack, Sd, Dutra, A, Pak, E, Hardy, J, Singleton, A, Williams, Nm, Heutink, P, Pickering Brown, S, Morris, Hr, Tienari, Pj, COLLABORATORS: Calvo A, Traynor B. J., Cammarosano, S, Moglia, C, Canosa, A, Gallo, S, Brunetti, M, Ossola, I, Mora, G, Marinou, K, Papetti, L, Conte, A, Luigetti, M, La Bella, V, Spataro, R, Colletti, T, Battistini, S, Giannini, F, Ricci, C, Caponnetto, C, Mancardi, G, Mandich, P, Salvi, F, Bartolomei, I, Mandrioli, J, Sola, P, Corbo, M, Lunetta, C, Penco, S, Monsurro', Maria Rosaria, Tedeschi, Gioacchino, Conforti, Fl, Volanti, P, Floris, G, Cannas, A, Piras, V, Murru, Mr, Marrosu, Mg, Pugliatti, M, Ticca, A, Simone, I, Logroscino, G., Neurology, Human genetics, NCA - Systems Biology of the Synapse, and NCA - Neurodegeneration
- Subjects
Male ,Genotype ,Neuroscience(all) ,Population ,Biology ,TARDBP ,Chromosomes ,03 medical and health sciences ,0302 clinical medicine ,Alleles, Amyotrophic Lateral Sclerosis ,genetics, Chromosomes ,Human ,Pair 9, Female, Finland, Frontotemporal Dementia ,genetics, Genetic Predisposition to Disease, Genotype, Haplotypes, Humans, Male, Microsatellite Repeats, Pedigree, Polymorphism ,Single Nucleotide ,SDG 3 - Good Health and Well-being ,C9orf72 ,Humans ,genetics ,Genetic Predisposition to Disease ,Polymorphism ,education ,Alleles ,Finland ,030304 developmental biology ,Genetics ,0303 health sciences ,education.field_of_study ,General Neuroscience ,Haplotype ,Amyotrophic Lateral Sclerosis ,Charged multivesicular body protein 2B ,DNA Repeat Expansion ,3. Good health ,Pedigree ,C9orf72 Protein ,Haplotypes ,Frontotemporal Dementia ,Female ,Trinucleotide repeat expansion ,030217 neurology & neurosurgery ,Pair 9 ,Microsatellite Repeats - Abstract
The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common neurodegenerative diseases. We have previously shown that a founder haplotype, covering the MOBKL2b, IFNK, and C9ORF72 genes, is present in the majority of cases linked to this region. Here we show that there is a large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72 on the affected haplotype. This repeat expansion segregates perfectly with disease in the Finnish population, underlying 46.0% of familial ALS and 21.1% of sporadic ALS in that population. Taken together with the D90A SOD1 mutation, 87% of familial ALS in Finland is now explained by a simple monogenic cause. The repeat expansion is also present in one-third of familial ALS cases of outbred European descent, making it the most common genetic cause of these fatal neurodegenerative diseases identified to date. © 2011 Elsevier Inc.
- Published
- 2011
154. International Collaboration with Russia and China: Researchers Face Difficult Choices.
- Author
-
Adams, Jonathan, Grant, Jonathan, Johnson, Jo, and Murphy, Daniel
- Subjects
HIGHER education ,TECHNOLOGICAL innovations ,POLITICAL change - Abstract
The global research network has evolved enormously over the past four decades, but the increasingly open and collaborative system could be threatened by recent political changes. The contrasting examples of Russia and China illustrate a dilemma that must be negotiated and to which researchers in higher education cannot be blind. Higher education institutions must acknowledge and negotiate their course with care if the fruits of shared knowledge and innovation are to continue to be harvested. [ABSTRACT FROM AUTHOR]
- Published
- 2023
155. Improving completeness of ascertainment and quality of information for pregnancies through linkage of administrative and clinical data records
- Author
-
Metcalfe, Amy, Lyon, Andrew W., Johnson, Jo-Ann, Bernier, Francois, Currie, Gillian, Lix, Lisa M., and Tough, Suzanne C.
- Published
- 2013
- Full Text
- View/download PDF
156. An FGFR1-SPRY2 Signaling Axis Limits Basal Cell Proliferation in the Steady-State Airway Epithelium
- Author
-
Balasooriya, Gayan I., primary, Johnson, Jo-Anne, additional, Basson, M. Albert, additional, and Rawlins, Emma L., additional
- Published
- 2016
- Full Text
- View/download PDF
157. Teaching at the heart of the system
- Author
-
Johnson, Jo and Johnson, Jo
- Published
- 2015
158. Higher education: fulfilling our potential
- Author
-
Johnson, Jo and Johnson, Jo
- Published
- 2015
159. ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion
- Author
-
Chiò, A, Mora, G, Sabatelli, Mario, Caponnetto, C, Lunetta, C, Traynor, Bj, Johnson, Jo, Nalls, Ma, Calvo, A, Moglia, C, Borghero, G, Trojsi, F, La Bella, V, Volanti, P, Simone, I, Salvi, F, Logullo, Fo, Riva, N, Carrera, P, Giannini, F, Mandrioli, J, Tanel, R, Capasso, M, Tremolizzo, L, Battistini, S, Murru, Mr, Origone, P, Zollino, Marcella, Penco, S, Mazzini, L, D'Alfonso, S, Restagno, G, Brunetti, M, Barberis, M, Conforti, Fl, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Marangi, Giuseppe, Sabatelli, Mario (ORCID:0000-0001-6635-4985), Zollino, Marcella (ORCID:0000-0003-4871-9519), Luigetti, Marco (ORCID:0000-0001-7539-505X), Lattante, Serena (ORCID:0000-0003-2891-0340), Marangi, Giuseppe (ORCID:0000-0002-6898-8882), Chiò, A, Mora, G, Sabatelli, Mario, Caponnetto, C, Lunetta, C, Traynor, Bj, Johnson, Jo, Nalls, Ma, Calvo, A, Moglia, C, Borghero, G, Trojsi, F, La Bella, V, Volanti, P, Simone, I, Salvi, F, Logullo, Fo, Riva, N, Carrera, P, Giannini, F, Mandrioli, J, Tanel, R, Capasso, M, Tremolizzo, L, Battistini, S, Murru, Mr, Origone, P, Zollino, Marcella, Penco, S, Mazzini, L, D'Alfonso, S, Restagno, G, Brunetti, M, Barberis, M, Conforti, Fl, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Marangi, Giuseppe, Sabatelli, Mario (ORCID:0000-0001-6635-4985), Zollino, Marcella (ORCID:0000-0003-4871-9519), Luigetti, Marco (ORCID:0000-0001-7539-505X), Lattante, Serena (ORCID:0000-0003-2891-0340), and Marangi, Giuseppe (ORCID:0000-0002-6898-8882)
- Abstract
There are indications that both familial amyotrophic lateral sclerosis (ALS) and sporadic ALS phenotype and prognosis are partly regulated by genetic and environmental factors, supporting the theory that ALS is a multifactorial disease. The aim of this article was to assess the role of ATXN2 intermediate length repeats in a large series of Italian and Sardinian ALS patients and controls carrying a pathogenetic C9ORF72 GGGGCC hexanucleotide repeat. A total of 1972 ALS cases were identified through the database of the Italian ALS Genetic consortium, a collaborative effort including 18 ALS centers throughout Italy. The study population included: (1) 276 Italian and 57 Sardinian ALS cases who carried the C9ORF72 expansion; (2) 1340 Italian and 299 Sardinian ALS cases not carrying the C9ORF72 expansion. A total of healthy 1043 controls were also assessed. Most Italian and Sardinian cases and controls were homozygous for 22/22 or 23/23 repeats or heterozygous for 22/23 repeats of the ATXN2 gene. ATXN2 intermediate length repeats alleles (≥28) were detected in 3 (0.6%) Italian ALS cases carrying the C9ORF72 expansion, in none of the Sardinian ALS cases carrying the expansion, in 60 (4.3%) Italian cases not carrying the expansion, and in 6 (2.0%) Sardinian ALS cases without C9ORF72 expansion. Intermediate length repeat alleles were found in 12 (1.5%) Italian controls and 1 (0.84%) Sardinian controls. Therefore, ALS patients with C9ORF72 expansion showed a lower frequency of ATXN2 polyQ intermediate length repeats than both controls (Italian cases, p = 0.137; Sardinian cases, p = 0.0001) and ALS patients without C9ORF72 expansion (Italian cases, p = 0.005; Sardinian cases, p = 0.178). In our large study on Italian and Sardinian ALS patients with C9ORF72 GGGGCC hexanucleotide repeat expansion, compared to age-, gender- and ethnic-matched controls, ATXN2 polyQ intermediate length does not represent a modifier of ALS risk, differently from non-C9ORF72 mutated patients.
- Published
- 2015
160. HFE p.H63D polymorphism does not influence ALS phenotype and survival
- Author
-
Chiò, A, Mora, G, Sabatelli, Mario, Caponnetto, C, Lunetta, C, Traynor, Bj, Johnson, Jo, Nalls, Ma, Calvo, A, Moglia, C, Borghero, G, Monsurrò, Mr, La Bella, V, Volanti, P, Simone, I, Salvi, F, Logullo, Fo, Nilo, R, Giannini, F, Mandrioli, J, Tanel, R, Murru, Mr, Mandich, P, Zollino, Marcella, Conforti, Fl, Penco, S, Brunetti, M, Barberis, M, Restagno, G, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Marangi, Giuseppe, Sabatelli, Mario (ORCID:0000-0001-6635-4985), Zollino, Marcella (ORCID:0000-0003-4871-9519), Luigetti, Marco (ORCID:0000-0001-7539-505X), Lattante, Serena (ORCID:0000-0003-2891-0340), Marangi, Giuseppe (ORCID:0000-0002-6898-8882), Chiò, A, Mora, G, Sabatelli, Mario, Caponnetto, C, Lunetta, C, Traynor, Bj, Johnson, Jo, Nalls, Ma, Calvo, A, Moglia, C, Borghero, G, Monsurrò, Mr, La Bella, V, Volanti, P, Simone, I, Salvi, F, Logullo, Fo, Nilo, R, Giannini, F, Mandrioli, J, Tanel, R, Murru, Mr, Mandich, P, Zollino, Marcella, Conforti, Fl, Penco, S, Brunetti, M, Barberis, M, Restagno, G, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Marangi, Giuseppe, Sabatelli, Mario (ORCID:0000-0001-6635-4985), Zollino, Marcella (ORCID:0000-0003-4871-9519), Luigetti, Marco (ORCID:0000-0001-7539-505X), Lattante, Serena (ORCID:0000-0003-2891-0340), and Marangi, Giuseppe (ORCID:0000-0002-6898-8882)
- Abstract
It has been recently reported that the p.His63Asp polymorphism of the HFE gene accelerates disease progression both in the SOD1 transgenic mouse and in amyotrophic lateral sclerosis (ALS) patients. We have evaluated the effect of HFE p.His63Asp polymorphism on the phenotype in 1351 Italian ALS patients (232 of Sardinian ancestry). Patients were genotyped for the HFE p.His63Asp polymorphism (CC, GC, and GG). All patients were also assessed for C9ORF72, TARDBP, SOD1, and FUS mutations. Of the 1351 ALS patients, 363 (29.2%) were heterozygous (GC) for the p.His63Asp polymorphism and 30 (2.2%) were homozygous for the minor allele (GG). Patients with CC, GC, and GG polymorphisms did not significantly differ by age at onset, site of onset of symptoms, and survival; however, in SOD1 patients with CG or GG polymorphism had a significantly longer survival than those with a CC polymorphism. Differently from what observed in the mouse model of ALS, the HFE p.His63Asp polymorphism has no effect on ALS phenotype in this large series of Italian ALS patients.
- Published
- 2015
161. CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients
- Author
-
Chiò, A, Mora, G, Sabatelli, Mario, Caponnetto, C, Traynor, Bj, Johnson, Jo, Nalls, Ma, Calvo, A, Moglia, C, Borghero, G, Monsurrò, Mr, La Bella, V, Volanti, P, Simone, I, Salvi, F, Logullo, Fo, Nilo, R, Battistini, S, Mandrioli, J, Tanel, R, Murru, Mr, Mandich, P, Zollino, Marcella, Conforti, Fl, Brunetti, M, Barberis, M, Restagno, G, Penco, S, Lunetta, C, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Marangi, Giuseppe, Sabatelli, Mario (ORCID:0000-0001-6635-4985), Zollino, Marcella (ORCID:0000-0003-4871-9519), Luigetti, Marco (ORCID:0000-0001-7539-505X), Lattante, Serena (ORCID:0000-0003-2891-0340), Marangi, Giuseppe (ORCID:0000-0002-6898-8882), Chiò, A, Mora, G, Sabatelli, Mario, Caponnetto, C, Traynor, Bj, Johnson, Jo, Nalls, Ma, Calvo, A, Moglia, C, Borghero, G, Monsurrò, Mr, La Bella, V, Volanti, P, Simone, I, Salvi, F, Logullo, Fo, Nilo, R, Battistini, S, Mandrioli, J, Tanel, R, Murru, Mr, Mandich, P, Zollino, Marcella, Conforti, Fl, Brunetti, M, Barberis, M, Restagno, G, Penco, S, Lunetta, C, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Marangi, Giuseppe, Sabatelli, Mario (ORCID:0000-0001-6635-4985), Zollino, Marcella (ORCID:0000-0003-4871-9519), Luigetti, Marco (ORCID:0000-0001-7539-505X), Lattante, Serena (ORCID:0000-0003-2891-0340), and Marangi, Giuseppe (ORCID:0000-0002-6898-8882)
- Abstract
Mutations in CHCHD10 have recently been described as a cause of frontotemporal dementia (FTD) comorbid with amyotrophic lateral sclerosis (ALS). The aim of this study was to assess the frequency and clinical characteristics of CHCHD10 mutations in Italian patients diagnosed with familial (n = 64) and apparently sporadic ALS (n = 224). Three apparently sporadic patients were found to carry c.100C>T (p.Pro34Ser) heterozygous variant in the exon 2 of CHCHD10. This mutation had been previously described in 2 unrelated French patients with FTD-ALS. However, our patients had a typical ALS, without evidence of FTD, cerebellar or extrapyramidal signs, or sensorineural deficits. We confirm that CHCHD10 mutations account for ∼ 1% of Italian ALS patients and are a cause of disease in subjects without dementia or other atypical clinical signs.
- Published
- 2015
162. A Genome-wide Association Study of Myasthenia Gravis
- Author
-
Renton, Ae, Pliner, Ha, Provenzano, Carlo, Evoli, Amelia, Ricciardi, R, Nalls, Ma, Marangi, Giuseppe, Abramzon, Y, Arepalli, S, Chong, S, Hernandez, Dg, Johnson, Jo, Bartoccioni, Emanuela, Scuderi, Flavia, Maestri, M, Gibbs, Jr, Errichiello, E, Chiò, A, Restagno, G, Sabatelli, Mario, Macek, M, Scholz, Sw, Corse, A, Chaudhry, V, Benatar, M, Barohn, Rj, Mcvey, A, Pasnoor, M, Dimachkie, Mm, Rowin, J, Kissel, J, Freimer, M, Kaminski, Hj, Sanders, Db, Lipscomb, B, Massey, Jm, Chopra, M, Howard, Jf, Koopman, Wj, Nicolle, Mw, Pascuzzi, Rm, Pestronk, A, Wulf, C, Florence, J, Blackmore, D, Soloway, A, Siddiqi, Z, Muppidi, S, Wolfe, G, Richman, D, Mezei, Mm, Jiwa, T, Oger, J, Drachman, Db, Traynor, Bj, Provenzano, Carlo (ORCID:0000-0001-5476-5517), Evoli, Amelia (ORCID:0000-0003-0282-8787), Marangi, Giuseppe (ORCID:0000-0002-6898-8882), Bartoccioni, Emanuela (ORCID:0000-0002-4434-8661), Sabatelli, Mario (ORCID:0000-0001-6635-4985), Renton, Ae, Pliner, Ha, Provenzano, Carlo, Evoli, Amelia, Ricciardi, R, Nalls, Ma, Marangi, Giuseppe, Abramzon, Y, Arepalli, S, Chong, S, Hernandez, Dg, Johnson, Jo, Bartoccioni, Emanuela, Scuderi, Flavia, Maestri, M, Gibbs, Jr, Errichiello, E, Chiò, A, Restagno, G, Sabatelli, Mario, Macek, M, Scholz, Sw, Corse, A, Chaudhry, V, Benatar, M, Barohn, Rj, Mcvey, A, Pasnoor, M, Dimachkie, Mm, Rowin, J, Kissel, J, Freimer, M, Kaminski, Hj, Sanders, Db, Lipscomb, B, Massey, Jm, Chopra, M, Howard, Jf, Koopman, Wj, Nicolle, Mw, Pascuzzi, Rm, Pestronk, A, Wulf, C, Florence, J, Blackmore, D, Soloway, A, Siddiqi, Z, Muppidi, S, Wolfe, G, Richman, D, Mezei, Mm, Jiwa, T, Oger, J, Drachman, Db, Traynor, Bj, Provenzano, Carlo (ORCID:0000-0001-5476-5517), Evoli, Amelia (ORCID:0000-0003-0282-8787), Marangi, Giuseppe (ORCID:0000-0002-6898-8882), Bartoccioni, Emanuela (ORCID:0000-0002-4434-8661), and Sabatelli, Mario (ORCID:0000-0001-6635-4985)
- Abstract
Myasthenia gravis is a chronic, autoimmune, neuromuscular disease characterized by fluctuating weakness of voluntary muscle groups. Although genetic factors are known to play a role in this neuroimmunological condition, the genetic etiology underlying myasthenia gravis is not well understood.
- Published
- 2015
163. Influencing health improvement from a local to a national level
- Author
-
Johnson, Jo, primary
- Published
- 2015
- Full Text
- View/download PDF
164. Organizational responses to the COVID-19 pandemic in Victoria, Australia: A qualitative study across four healthcare settings
- Author
-
Sarah L. McGuinness, Johnson Josphin, Owen Eades, Sharon Clifford, Jane Fisher, Maggie Kirkman, Grant Russell, Carol L. Hodgson, Helen L. Kelsall, Riki Lane, Helen Skouteris, Karen L. Smith, and Karin Leder
- Subjects
COVID-19 ,healthcare workers ,mental health ,occupational health ,perceptions ,workplace responses ,Public aspects of medicine ,RA1-1270 - Abstract
ObjectiveOrganizational responses that support healthcare workers (HCWs) and mitigate health risks are necessary to offset the impact of the COVID-19 pandemic. We aimed to understand how HCWs and key personnel working in healthcare settings in Melbourne, Australia perceived their employing organizations' responses to the COVID-19 pandemic.MethodIn this qualitative study, conducted May-July 2021 as part of the longitudinal Coronavirus in Victorian Healthcare and Aged Care Workers (COVIC-HA) study, we purposively sampled and interviewed HCWs and key personnel from healthcare organizations across hospital, ambulance, aged care and primary care (general practice) settings. We also examined HCWs' free-text responses to a question about organizational resources and/or supports from the COVIC-HA Study's baseline survey. We thematically analyzed data using an iterative process.ResultsWe analyzed data from interviews with 28 HCWs and 21 key personnel and free-text responses from 365 HCWs, yielding three major themes: navigating a changing and uncertain environment, maintaining service delivery during a pandemic, and meeting the safety and psychological needs of staff . HCWs valued organizational efforts to engage openly and honesty with staff, and proactive responses such as strategies to enhance workplace safety (e.g., personal protective equipment spotters). Suggestions for improvement identified in the themes included streamlined information processes, greater involvement of HCWs in decision-making, increased investment in staff wellbeing initiatives and sustainable approaches to strengthen the healthcare workforce.ConclusionsThis study provides in-depth insights into the challenges and successes of organizational responses across four healthcare settings in the uncertain environment of a pandemic. Future efforts to mitigate the impact of acute stressors on HCWs should include a strong focus on bidirectional communication, effective and realistic strategies to strengthen and sustain the healthcare workforce, and greater investment in flexible and meaningful psychological support and wellbeing initiatives for HCWs.
- Published
- 2022
- Full Text
- View/download PDF
165. Transverse technique: complementary approach to measurement of first-trimester uterine artery Doppler.
- Author
-
Johnson, J.‐A., Metcalfe, A., Huber, J., Schwarzenberger, J., Winters, E., Stavness, L., Drouin, O., Bujold, E., Chaemsaithong, P., Tse, A. W. T., Lu, J., Lim, W. T., Leung, T. Y., Sahota, D., Poon, L. C., Drouin, Olivier, Johnson, Jo-Ann, Metcalfe, Amy, Huber, Janie, and Schwarzenberger, Jill
- Subjects
DOPPLER ultrasonography ,FIRST trimester of pregnancy ,UTERINE artery ,PREECLAMPSIA ,TRANSVERSE Doppler effect ,ARTERIAL physiology ,ARTERIES ,BLOOD flow measurement ,COMPARATIVE studies ,FETAL ultrasonic imaging ,HEMODYNAMICS ,LONGITUDINAL method ,RESEARCH methodology ,MEDICAL cooperation ,PHYSICS ,RESEARCH ,EVALUATION research ,PREDICTIVE tests - Abstract
Objectives: To define a protocol for the first-trimester assessment of uterine artery pulsatility index (UtA-PI) using the new transverse technique, to evaluate UtA-PI measured using the transverse approach vs that obtained using the conventional sagittal approach and to determine if accelerated onsite training (in both methods) of inexperienced sonographers can achieve reproducible UtA-PI measurements comparable with those obtained by an experienced sonographer.Methods: This was a prospective observational study of women with a singleton pregnancy attending for routine combined first-trimester screening at 11 to 13 + 6 weeks' gestation. The study consisted of two parts, each conducted at a different center (Part 1 in Calgary, Canada and Part 2 in Hong Kong). In Part 1, UtA-PI measurements were performed using the transverse and sagittal techniques by four sonographers trained in both methods, in 10 cases each, and measurement indices (PI), time required and subjective difficulty in obtaining satisfactory measurements were compared. The one sample t-test and Wilcoxon signed rank test were used when appropriate. Bland-Altman plots were used to assess measurement agreement, and intraclass correlation coefficient (ICC) was used to evaluate measurement reliability. A target plot was used to assess measures of central tendency and dispersion. In Part 2, one experienced and three inexperienced sonographers prospectively measured UtA-PI using both approaches in 42 and 35 women, respectively. Inexperienced sonographers underwent accelerated onsite training by the experienced sonographer. Measurement approach and sonographer order were on a random basis. ICC, Bland-Altman and Passing-Bablok analyses were performed to assess measurement agreement and reliability and effect of accelerated training.Results: In Part 1, no difference was observed between the two techniques in mean time to acquire the measurements (118 s for sagittal vs 106 s for transverse; P = 0.38). The four sonographers reported that the transverse technique was subjectively easier to perform (P = 0.04). Bias and ICC for mean UtA-PI between sagittal and transverse measurements were -0.05 (95% limits of agreement, -0.48 to 0.37) and 0.94, respectively. Measurements obtained using the transverse technique after correcting for gestational age were significantly closer to the expected distribution than those obtained using the sagittal technique. In Part 2, there were no significant differences in median UtA-PI measured using the different approaches for both experienced and inexperienced sonographers (P > 0.05 for all sonographers). Mean UtA-PI measurement reliability between approaches was high for the experienced (ICC = 0.92) and inexperienced (ICC > 0.80) sonographers. UtA-PI measurement approaches did not deviate from linearity, while bias ranged from -0.10 to 0.07. The median time required was similar between the techniques (56.1 s for sagittal vs 49.3 s for transverse; P = 0.054).Conclusions: This novel transverse approach for the measurement of UtA-PI in the first trimester appears to be comparable with the sagittal approach in terms of reliability, reproducibility and time required, and may be easier to perform. Providing accelerated onsite training can be helpful for improving the reliability of UtA-PI measurements and could potentially facilitate the broad implementation of first-trimester pre-eclampsia screening. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]- Published
- 2018
- Full Text
- View/download PDF
166. A Rare Case of Antepartum Spontaneous Septostomy in a Monochorionic Diamniotic Twin Pregnancy
- Author
-
Chadha, Rati, Lange, Ian R., Bratz, Lisa, Cooper, Stephanie L., Roggensack, Anne, and Johnson, Jo-Ann
- Subjects
Article Subject - Abstract
Spontaneous septostomy in a monochorionic diamniotic twin pregnancy is a rare phenomenon. We present a case of monochorionic diamniotic twin pregnancy with an intact dividing membrane seen in the 1st half of the pregnancy. At 26 weeks, when she was assessed for preterm contractions, the dividing membrane was not documented, which suggested spontaneous septostomy. There had been no invasive procedures during the pregnancy. She subsequently delivered at 29 weeks, secondary to preterm labor. No dividing membrane was noticed at the time of caesarian section. Spontaneous septostomy can complicate the management of monochorionic diamniotic twins by creating a pseudomonoamniotic environment resulting in cord entanglement, and difficulty in the diagnosis and management of twin-twin transfusion syndrome. We believe that such a case should be managed as monochorionic monoamniotic twin gestation.
- Published
- 2012
- Full Text
- View/download PDF
167. LAST TANGO IN PARIS
- Author
-
Johnson, Jo
- Subjects
United Kingdom -- Transportation ,France -- Transportation ,Political culture -- France ,High speed trains -- France ,General interest ,News, opinion and commentary ,Political science ,Transportation - Abstract
The new TGV link to the Med is jolly impressive, says Jo Johnson, but France cannot really afford such glory Paris THE new TGV will run from sea to shining [...]
- Published
- 2001
168. Letters.
- Author
-
Johnson, Jo, Tom, and Greenlaw, Debby
- Subjects
HAMSTRING muscle ,WEAVING - Published
- 2023
169. A large proportion of ALS cases in Sardinia are due to a single founder mutation of the TARDBP gene. Arch Neurol
- Author
-
Chiò, A, Borghero, G, Pugliatti, Maura, Ticca, A, Calvo, A, Moglia, C, Mutani, R, Brunetti, M, Ossola, I, Marrosu, Mg, Murru, Mr, Floris, G, Cannas, A, Parish, Ld, Cossu, P, Abramzon, Y, Johnson, Jo, Arepalli, S, Chong, S, Hernandez, Dg, Italsgen, Traynor, Bj, and Restagno, G.
- Published
- 2011
170. A cluster of ALS Cases in Sardinia due to a founder mutation of the TARDBP gene
- Author
-
Chiò, A, Borghero, G, Pugliatti, Maura, Ticca, A, Calvo, A, Moglia, C, Brunetti, M, Ossola, I, Marrosu, M, Murru, Mr, Floris, G, Cannas, A, Parish, Ld, Cossu, P, Abramzon, Y, Johnson, Jo, Arepalli, S, Chong, S, Hernandez, Dg, Traynor, Bj, and Restagno, G.
- Published
- 2011
171. Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals
- Author
-
Hill, Melissa, primary, Johnson, Jo-Ann, additional, Langlois, Sylvie, additional, Lee, Hyun, additional, Winsor, Stephanie, additional, Dineley, Brigid, additional, Horniachek, Marisa, additional, Lalatta, Faustina, additional, Ronzoni, Luisa, additional, Barrett, Angela N, additional, Advani, Henna V, additional, Choolani, Mahesh, additional, Rabinowitz, Ron, additional, Pajkrt, Eva, additional, van Schendel, Rachèl V, additional, Henneman, Lidewij, additional, Rommers, Wieke, additional, Bilardo, Caterina M, additional, Rendeiro, Paula, additional, Ribeiro, Maria João, additional, Rocha, José, additional, Bay Lund, Ida Charlotte, additional, Petersen, Olav B, additional, Becher, Naja, additional, Vogel, Ida, additional, Stefánsdottir, Vigdis, additional, Ingvarsdottir, Sigrun, additional, Gottfredsdottir, Helga, additional, Morris, Stephen, additional, and Chitty, Lyn S, additional
- Published
- 2015
- Full Text
- View/download PDF
172. Technical Update
- Author
-
Dahdouh, Elias M., primary, Balayla, Jacques, additional, Audibert, François, additional, Wilson, R. Douglas, additional, Brock, Jo-Ann, additional, Campagnolo, Carla, additional, Carroll, June, additional, Chong, Karen, additional, Gagnon, Alain, additional, Johnson, Jo-Ann, additional, MacDonald, William, additional, Okun, Nanette, additional, Pastuck, Melanie, additional, and Vallée-Pouliot, Karine, additional
- Published
- 2015
- Full Text
- View/download PDF
173. Supplémentation préconceptionnelle en acide folique / multivitamines pour la prévention primaire et secondaire des anomalies du tube neural et d’autres anomalies congénitales sensibles à l’acide folique
- Author
-
Wilson, R. Douglas, primary, Wilson, R. Douglas, additional, Audibert, François, additional, Brock, Jo-Ann, additional, Carroll, June, additional, Cartier, Lola, additional, Gagnon, Alain, additional, Johnson, Jo-Ann, additional, Langlois, Sylvie, additional, Murphy-Kaulbeck, Lynn, additional, Okun, Nanette, additional, Pastuck, Melanie, additional, Deb-Rinker, Paromita, additional, Dodds, Linda, additional, Leon, Juan Andres, additional, Lowell, Hélène, additional, Luo, Wei, additional, MacFarlane, Amanda, additional, McMillan, Rachel, additional, Moore, Aideen, additional, Mundle, William, additional, O’Connor, Deborah, additional, Ray, Joel, additional, and Van den Hof, Michiel, additional
- Published
- 2015
- Full Text
- View/download PDF
174. RETIRED: Technical Update: Preimplantation Genetic Diagnosis and Screening
- Author
-
Dahdouh, Elias M., primary, Balayla, Jacques, additional, Audibert, François, additional, Wilson, R. Douglas, additional, Brock, Jo-Ann, additional, Campagnolo, Carla, additional, Carroll, June, additional, Chong, Karen, additional, Gagnon, Alain, additional, Johnson, Jo-Ann, additional, MacDonald, William, additional, Okun, Nanette, additional, Pastuck, Melanie, additional, and Vallée-Pouliot, Karine, additional
- Published
- 2015
- Full Text
- View/download PDF
175. Archivée: Mise à jour technique : Diagnostic et dépistage génétiques préimplantatoires
- Author
-
Dahdouh, Elias M., primary, Balayla, Jacques, additional, Audibert, François, additional, Wilson, R. Douglas, additional, Brock, Jo-Ann, additional, Campagnolo, Carla, additional, Carroll, June, additional, Chong, Karen, additional, Gagnon, Alain, additional, Johnson, Jo-Ann, additional, MacDonald, William, additional, Okun, Nanette, additional, Pastuck, Melanie, additional, and Vallée-Pouliot, Karine, additional
- Published
- 2015
- Full Text
- View/download PDF
176. GETTING A SURE FOOTING IN FOREIGN MARKETS
- Author
-
Johnson, Jo
- Subjects
Footwear industry -- Management ,Company business management ,Patrick Cox International -- Management - Abstract
London-based Patrick Cox is already used to doing business overseas. But having grown his business to a multi-million pound concern, his next steps could be tricky. Stuffy people sometimes say […]
- Published
- 1999
177. Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
- Author
-
Johnson, Jo, Pioro, Ep, Boehringer, A, Chia, R, Feit, H, Renton, Ae, Pliner, Ha, Abramzon, Y, Marangi, Giuseppe, Winborn, Bj, Gibbs, Jr, Nalls, Ma, Morgan, S, Shoai, M, Hardy, J, Pittman, A, Orrell, Rw, Malaspina, A, Sidle, Kc, Fratta, P, Harms, Mb, Baloh, Rh, Pestronk, A, Weihl, Cc, Rogaeva, E, Zinman, L, Drory, Ve, Borghero, G, Mora, G, Calvo, A, Rothstein, Jd, Drepper, C, Sendtner, M, Singleton, Ab, Taylor, Jp, Cookson, Mr, Restagno, G, Sabatelli, Mario, Bowser, R, Chiò, A, Traynor, Bj, Conte, Amelia, Luigetti, Marco, Zollino, Marcella, Lattante, Serena, Marangi, Giuseppe (ORCID:0000-0002-6898-8882), Sabatelli, Mario (ORCID:0000-0001-6635-4985), Luigetti, Marco (ORCID:0000-0001-7539-505X), Zollino, Marcella (ORCID:0000-0003-4871-9519), Lattante, Serena (ORCID:0000-0003-2891-0340), Johnson, Jo, Pioro, Ep, Boehringer, A, Chia, R, Feit, H, Renton, Ae, Pliner, Ha, Abramzon, Y, Marangi, Giuseppe, Winborn, Bj, Gibbs, Jr, Nalls, Ma, Morgan, S, Shoai, M, Hardy, J, Pittman, A, Orrell, Rw, Malaspina, A, Sidle, Kc, Fratta, P, Harms, Mb, Baloh, Rh, Pestronk, A, Weihl, Cc, Rogaeva, E, Zinman, L, Drory, Ve, Borghero, G, Mora, G, Calvo, A, Rothstein, Jd, Drepper, C, Sendtner, M, Singleton, Ab, Taylor, Jp, Cookson, Mr, Restagno, G, Sabatelli, Mario, Bowser, R, Chiò, A, Traynor, Bj, Conte, Amelia, Luigetti, Marco, Zollino, Marcella, Lattante, Serena, Marangi, Giuseppe (ORCID:0000-0002-6898-8882), Sabatelli, Mario (ORCID:0000-0001-6635-4985), Luigetti, Marco (ORCID:0000-0001-7539-505X), Zollino, Marcella (ORCID:0000-0003-4871-9519), and Lattante, Serena (ORCID:0000-0003-2891-0340)
- Abstract
MATR3 is an RNA- and DNA-binding protein that interacts with TDP-43, a disease protein linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Using exome sequencing, we identified mutations in MATR3 in ALS kindreds. We also observed MATR3 pathology in ALS-affected spinal cords with and without MATR3 mutations. Our data provide more evidence supporting the role of aberrant RNA processing in motor neuron degeneration.
- Published
- 2014
178. The forcing monophonic and forcing geodetic numbers of a graph
- Author
-
Johnson John
- Subjects
geodetic number, monophonic number, forcing geodetic number, forcing monophonic number ,Mathematics ,QA1-939 - Abstract
For a connected graph G = (V, E), let a set S be a m-set of G. A subset T ⊆ S is called a forcing subset for S if S is the unique m-set containing T. A forcing subset for S of minimum cardinality is a minimum forcing subset of S. The forcing monophonic number of S, denoted by fm(S), is the cardinality of a minimum forcing subset of S. The forcing monophonic number of G, denoted by fm(G), is fm(G) = min{fm(S)}, where the minimum is taken over all minimum monophonic sets in G. We know that m(G) ≤ g(G), where m(G) and g(G) are monophonic number and geodetic number of a connected graph G respectively. However there is no relationship between fm(G) and fg(G), where fg(G) is the forcing geodetic number of a connected graph G. We give a series of realization results for various possibilities of these four parameters.
- Published
- 2020
- Full Text
- View/download PDF
179. Implementation of the ‘Removed Injectable modified Short-course regimens for EXpert Multidrug Resistant Tuberculosis’ (RISE study) in Tanzania: a protocol for a mixed-methods process evaluation
- Author
-
Ntuli A Kapologwe, Stellah G Mpagama, Albino Kalolo, Beatrice Mutayoba, Nyanda Elias Ntinginya, Doreen Pamba, Julieth Lalashowi, Pendomartha Joseph Shayo, Catherine Gitige, Happiness Mvungi, Webhale Ntagazwa, Isaac Lekule, Riziki Kisonga, Liberate Mleoh, Johnson John, and Emmanuel Matechi
- Subjects
Medicine - Abstract
Introduction Tanzania is adapting a shortened injectable-free multidrug resistant tuberculosis (MDR-TB) regimen, comprising new drugs such as bedaquiline and delamanid and repurposed drugs such as clofazimine and linezolid. The regimen is implemented using a pragmatic prospective cohort study within the National TB and Leprosy Programme and is accompanied by a process evaluation. The process evaluation aims to unpack the implementation processes, their outcomes and the moderating factors in order to understand the clinical effectiveness of the regimen. This protocol describes the methods employed in understanding the implementation processes of the new MDR-TB regimen in 15 regions of Tanzania.Methods This study adopts a concurrent mixed-methods design. Using multiple data collection tools, we capture information on: implementation outcomes, stakeholder response to the intervention and the influence of contextual factors. Data will be collected from the 22 health facilities categorised as dispensaries, health centres, district hospitals and referral hospitals. Health workers (n=132) and patients (n=220) will fill a structured questionnaire. For each category of health facility, we will conduct five focus group discussions and in-depth interviews (n=45) for health workers. Participant observations (n=9) and review documents (n=22) will be conducted using structured checklists. Data will be collected at two points over a period of 1 year. We will analyse quantitative data using descriptive and inferential statistical methods. Thematic analysis will be used for qualitative data.Ethics and dissemination This study received ethical approval from National Institute of Medical research (NIMR), Ref. NIMR/HQ/R.8a/Vol.IX/3269 and from the Mbeya Medical Research and Ethics Review Committee, Ref. SZEC-2439/R.A/V.I/38. Our findings are expected to inform the wider implementation of the new MDR-TB regimen as it is rolled out countrywide. Dissemination of findings will be through publications, conferences, workshops and implementation manuals for scaling up MDR-TB treatments.
- Published
- 2022
- Full Text
- View/download PDF
180. Painter
- Author
-
JOHNSON, JO ANN, primary
- Full Text
- View/download PDF
181. CorrespondenceSome thoughts on the Social Materialist ManifestoThe current culture of behavioural servicesPilgrim right to press the issueMind your languageA Response to Andrew Ganley (Correspondence, CPF 259)An elaborated justificationChallenging structures
- Author
-
Tyack, Charlie, primary, Hovey, Steph, primary, Hassall, Richard, primary, Shuttleworth, Linda, primary, Donner, Ben, primary, Pilgrim, David, primary, Nolte, Lizette, primary, Gilbert, Rachel, additional, Lane, Carla, additional, Johnson, Jo, additional, Deboys, Rachel, additional, and Taylor-Roberts, Laura, additional
- Published
- 2014
- Full Text
- View/download PDF
182. Archivée: Interventions effractives prénatales chez les femmes qui présentent des infections par le virus de l’hépatite B, le virus de l’hépatite C et/ou le virus de l’immunodéficience humaine
- Author
-
Gagnon, Alain, primary, Davies, Gregory, additional, Wilson, R. Douglas, additional, Audibert, Francois, additional, Brock, Jo-Ann, additional, Campagnolo, Carla, additional, Carroll, June, additional, Chitayat, David, additional, Gagnon, Alain, additional, Johnson, Jo-Ann, additional, MacDonald, William, additional, Murphy-Kaulbeck, Lynn, additional, Okun, Nanette, additional, and Pastuck, Melanie, additional
- Published
- 2014
- Full Text
- View/download PDF
183. RETIRED: Prenatal Invasive Procedures in Women With Hepatitis B, Hepatitis C, and/or Human Immunodeficiency Virus Infections
- Author
-
Gagnon, Alain, primary, Davies, Gregory, additional, Wilson, R. Douglas, additional, Audibert, Francois, additional, Brock, Jo-Ann, additional, Campagnolo, Carla, additional, Carroll, June, additional, Chitayat, David, additional, Gagnon, Alain, additional, Johnson, Jo-Ann, additional, MacDonald, William, additional, Murphy-Kaulbeck, Lynn, additional, Okun, Nanette, additional, and Pastuck, Melanie, additional
- Published
- 2014
- Full Text
- View/download PDF
184. Beyond Trisomy 21: Additional Chromosomal Anomalies Detected through Routine Aneuploidy Screening
- Author
-
Metcalfe, Amy, primary, Hippman, Catriona, additional, Pastuck, Melanie, additional, and Johnson, Jo-Ann, additional
- Published
- 2014
- Full Text
- View/download PDF
185. Issues de grossesse à la suite du recours à la procréation assistée
- Author
-
Okun, Nanette, primary, Sierra, Sony, additional, Douglas Wilson, R., additional, Audibert, Francois, additional, Brock, Jo-Ann, additional, Campagnolo, Carla, additional, Carroll, June, additional, Cartier, Lola, additional, Chitayat, David, additional, Gagnon, Alain, additional, Johnson, Jo-Ann, additional, Langlois, Sylvie, additional, Murphy-Kaulbeck, Lynn, additional, Kim MacDonald, W., additional, Okun, Nanette, additional, Pastuck, Melanie, additional, Tan, Lih Yeen, additional, Poplak, Valda, additional, and Robson, Helen, additional
- Published
- 2014
- Full Text
- View/download PDF
186. Pregnancy Outcomes After Assisted Human Reproduction
- Author
-
Okun, Nanette, primary, Sierra, Sony, additional, Douglas Wilson, R., additional, Audibert, Francois, additional, Brock, Jo-Ann, additional, Campagnolo, Carla, additional, Carroll, June, additional, Cartier, Lola, additional, Chitayat, David, additional, Gagnon, Alain, additional, Johnson, Jo-Ann, additional, Langlois, Sylvie, additional, Murphy-Kaulbeck, Lynn, additional, Kim MacDonald, W., additional, Okun, Nanette, additional, Pastuck, Melanie, additional, Tan, Lih Yeen, additional, Poplak, Valda, additional, and Robson, Helen, additional
- Published
- 2014
- Full Text
- View/download PDF
187. Cameron wants a new 'special relationship'. But does India? For too long, Britain has been complacent about the progress made by its former colony. Now we risk missing out on the important part India will play in the new economic world order. Jo Johnson on the Prime Minister's attempt to woo New Delhi
- Author
-
Johnson, Jo
- Subjects
Prime ministers -- Foreign policy -- Planning ,Visits of state -- Planning ,Company business planning ,General interest ,News, opinion and commentary ,Political science - Abstract
David Cameron is, by instinct, sceptical of the Heseltinian tradition of herding businessmen onto aeroplanes bound for faraway countries. Yet when he heads to India next week, he will be [...]
- Published
- 2010
188. Functional Importance of the Hydrophobic Residue 362 in Influenza A PB1 Subunit
- Author
-
Johnson Jor-Shing Chan, Yun-Sang Tang, Chun-Yeung Lo, and Pang-Chui Shaw
- Subjects
influenza ,RNA-dependent RNA polymerase ,PB1 β-hairpin ,Microbiology ,QR1-502 - Abstract
PB1, acting as the catalytic subunit of the influenza polymerase, has numerous sequentially and structurally conserved regions. It has been observed that the slight modification of residues in PB1 would greatly affect the polymerase activity and even host adaptation ability. Here, we identified a critical residue, 362M, on the polymerase activity and virus replication. By means of the minireplicon assay, we assured the importance of the hydrophobicity of PB1 362, and the possibility that the size and charge of the side chain might directly interfere with the polymerase function. We also proposed a hydrophobic core between the PA-arch and the PB1 β-hairpin motifs and showed the importance of the core to the polymerase function.
- Published
- 2023
- Full Text
- View/download PDF
189. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
- Author
-
Majounie, E, Renton, AE, Mok, K, Dopper, Elise, Waite, A, Rollinson, S, Chio, A, Restagno, G, Nicolaou, N, Simon-Sanchez, J, van Swieten, J.C., Abramzon, Y, Johnson, JO, Sendtner, M, Pamphlett, R, Orrell, RW, Mead, S, Sidle, KC, Houlden, H, Rohrer, JD, Morrison, KE, Pall, H, Talbot, K, Ansorge, O, Hernandez, DG, Arepalli, S, Sabatelli, M, Mora, G, Corbo, M, Giannini, F, Calvo, A, Englund, E, Borghero, G, Foris, GL, Remes, AM, Laaksovirta, H, McCluskey, L, Trojanowski, JQ, Van Deerlin, VM, Schellenberg, GD, Nalls, MA, Drory, VE, Lu, CS, Yeh, TH, Ishiura, H, Takahashi, Y, Tsuji, S, Le Ber, I, Brice, A, Drepper, C, Williams, N, Kirby, J, Shaw, P, Hardy, J, Tienari, PJ, Heutink, P, Morris, HR, Pickering-Brown, S, Traynor, BJ, Majounie, E, Renton, AE, Mok, K, Dopper, Elise, Waite, A, Rollinson, S, Chio, A, Restagno, G, Nicolaou, N, Simon-Sanchez, J, van Swieten, J.C., Abramzon, Y, Johnson, JO, Sendtner, M, Pamphlett, R, Orrell, RW, Mead, S, Sidle, KC, Houlden, H, Rohrer, JD, Morrison, KE, Pall, H, Talbot, K, Ansorge, O, Hernandez, DG, Arepalli, S, Sabatelli, M, Mora, G, Corbo, M, Giannini, F, Calvo, A, Englund, E, Borghero, G, Foris, GL, Remes, AM, Laaksovirta, H, McCluskey, L, Trojanowski, JQ, Van Deerlin, VM, Schellenberg, GD, Nalls, MA, Drory, VE, Lu, CS, Yeh, TH, Ishiura, H, Takahashi, Y, Tsuji, S, Le Ber, I, Brice, A, Drepper, C, Williams, N, Kirby, J, Shaw, P, Hardy, J, Tienari, PJ, Heutink, P, Morris, HR, Pickering-Brown, S, and Traynor, BJ
- Abstract
Background We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Methods We screened 4448 patients diagnosed with ALS (El Escorial criteria) and 1425 patients with FTD (Lund-Manchester criteria) from 17 regions worldwide for the GGGGCC hexanucleotide expansion using a repeat-primed PCR assay. We assessed familial disease status on the basis of self-reported family history of similar neurodegenerative diseases at the time of sample collection. We compared haplotype data for 262 patients carrying the expansion with the known Finnish founder risk haplotype across the chromosomal locus. We calculated age-related penetrance using the Kaplan-Meier method with data for 603 individuals with the expansion. Findings In patients with sporadic ALS, we identified the repeat expansion in 236 (7.0%) of 3377 white individuals from the USA, Europe, and Australia, two (4.1%) of 49 black individuals from the USA, and six (8.3%) of 72 Hispanic individuals from the USA. The mutation was present in 217 (39.3%) of 552 white individuals with familial MS from Europe and the USA. 59 (6.0%) of 981 white Europeans with sporadic FTD had the mutation, as did 99 (24.8%) of 400 white Europeans with familial FTD. Data for other ethnic groups were sparse, but we identified one Asian patient with familial ALS (from 20 assessed) and two with familial FTD (from three assessed) who carried the mutation. The mutation was not carried by the three Native Americans or 360 patients from Asia or the Pacific Islands with sporadic MS who were tested, or by 41 Asian patients with sporadic FTD. All patients with the repeat expansion had (partly or fully) the founder haplotype, suggesting a one-off expansion occurring about 1500 years ago. The pathogenic expansion was non-penetrant in individuals younger than 35 years, 50% penetrant by 58 years
- Published
- 2012
190. Erythropoietin Receptor Signaling Is Membrane Raft Dependent
- Author
-
McGraw, KL, Fuhler, Gwenny, Johnson, JO, Clark, JA, Caceres, GC, Sokol, L, List, AF, McGraw, KL, Fuhler, Gwenny, Johnson, JO, Clark, JA, Caceres, GC, Sokol, L, and List, AF
- Abstract
Upon erythropoietin (Epo) engagement, Epo-receptor (R) homodimerizes to activate JAK2 and Lyn, which phosphorylate STAT5. Although recent investigations have identified key negative regulators of Epo-R signaling, little is known about the role of membrane localization in controlling receptor signal fidelity. Here we show a critical role for membrane raft (MR) microdomains in creation of discrete signaling platforms essential for Epo-R signaling. Treatment of UT7 cells with Epo induced MR assembly and coalescence. Confocal microscopy showed that raft aggregates significantly increased after Epo stimulation (mean, 4.3 +/- 1.4(SE) vs. 25.6 +/- 3.2 aggregates/cell; p <= 0.001), accompanied by a >3-fold increase in cluster size (p <= 0.001). Raft fraction immunoblotting showed Epo-R translocation to MR after Epo stimulation and was confirmed by fluorescence microscopy in Epo stimulated UT7 cells and primary erythroid bursts. Receptor recruitment into MR was accompanied by incorporation of JAK2, Lyn, and STAT5 and their activated forms. Raft disruption by cholesterol depletion extinguished Epo induced Jak2, STAT5, Akt and MAPK phosphorylation in UT7 cells and erythroid progenitors. Furthermore, inhibition of the Rho GTPases Rac1 or RhoA blocked receptor recruitment into raft fractions, indicating a role for these GTPases in receptor trafficking. These data establish a critical role for MR in recruitment and assembly of Epo-R and signal intermediates into discrete membrane signaling units.
- Published
- 2012
191. Exome sequencing reveals VCP mutations as a cause of familial ALS
- Author
-
Johnson, Jo, Mandrioli, J, Benatar, M, Abramzon, Y, Van Deerlin, Vm, Trojanowski, Jq, Gibbs, Jr, Brunetti, M, Gronka, S, Wuu, J, Ding, J, Mccluskey, L, Martinez Lage, M, Falcone, D, Hernandez, Dg, Arepalli, S, Chong, S, Schymick, Jc, Rothstein, J, Landi, Francesco Luigi, Wang, Y, Calvo, A, Mora, G, Sabatelli, Mario, Monsurrò, Mr, Battistini, S, Salvi, F, Spataro, R, Sola, P, Borghero, G, Galassi, G, Scholz, Sw, Taylor, Jp, Restagno, G, Chiò, A, Traynor, Bj, Sabatelli, Mario (ORCID:0000-0001-6635-4985), Johnson, Jo, Mandrioli, J, Benatar, M, Abramzon, Y, Van Deerlin, Vm, Trojanowski, Jq, Gibbs, Jr, Brunetti, M, Gronka, S, Wuu, J, Ding, J, Mccluskey, L, Martinez Lage, M, Falcone, D, Hernandez, Dg, Arepalli, S, Chong, S, Schymick, Jc, Rothstein, J, Landi, Francesco Luigi, Wang, Y, Calvo, A, Mora, G, Sabatelli, Mario, Monsurrò, Mr, Battistini, S, Salvi, F, Spataro, R, Sola, P, Borghero, G, Galassi, G, Scholz, Sw, Taylor, Jp, Restagno, G, Chiò, A, Traynor, Bj, and Sabatelli, Mario (ORCID:0000-0001-6635-4985)
- Abstract
Using exome sequencing, we identified a p.R191Q amino acid change in the valosin-containing protein (VCP) gene in an Italian family with autosomal dominantly inherited amyotrophic lateral sclerosis (ALS). Mutations in VCP have previously been identified in families with Inclusion Body Myopathy, Paget disease, and Frontotemporal Dementia (IBMPFD). Screening of VCP in a cohort of 210 familial ALS cases and 78 autopsy-proven ALS cases identified four additional mutations including a p.R155H mutation in a pathologically proven case of ALS. VCP protein is essential for maturation of ubiquitin-containing autophagosomes, and mutant VCP toxicity is partially mediated through its effect on TDP-43 protein, a major constituent of ubiquitin inclusions that neuropathologically characterize ALS. Our data broaden the phenotype of IBMPFD to include motor neuron degeneration, suggest that VCP mutations may account for ∼1%-2% of familial ALS, and provide evidence directly implicating defects in the ubiquitination/protein degradation pathway in motor neuron degeneration.
- Published
- 2010
192. Whitehall's old era of fudged savings must end
- Author
-
Hancock, Matthew and Johnson, Jo
- Subjects
Banking, finance and accounting industries ,Business ,Business, international - Abstract
Retail magnate Philip Green's report this week uncovered a 'staggeringly' wasteful public sector. Basic items such as printing paper and mobile handsets are purchased at different rates. There is little [...]
- Published
- 2010
193. Britain needs to show tough love to India
- Author
-
Johnson, Jo
- Subjects
Foreign investments ,Banking, finance and accounting industries ,Business ,Business, international - Abstract
David Cameron says he has made it a priority to reenergise the flagging UKIndia relationship. Given the shift in global economic power from west to east, this is essential but [...]
- Published
- 2010
194. Prevalence of common oral diseases among Senior Secondary School students in Enugu State, Nigeria
- Author
-
Scholastica Chidi Okoli, Anthony Ikechukwu Ogbalu, Samuel Emeka Ani, Peter Chijioke Nwosu, Paul Chima Enebechi, Balarabe Musa Hussein, and Johnson John Omale
- Subjects
Prevalence ,periodontal disease ,dental caries ,dental plaque ,oral diseases ,Internal medicine ,RC31-1245 ,Medicine (General) ,R5-920 - Abstract
Introduction General health could be affected by infections of the teeth and other tissues in the mouth leading to oral disease. Oral diseases include dental caries, periodontal diseases, oral cancer, clefts, dental stains, halitosis (mouth odour), gingivitis, tooth wear, pericoronitis, oral ulcers, oral candidiasis, cancrum oris, and others Purpose This study was aimed at ascertaining the prevalence of common oral diseases (COD) among senior secondary school students in Enugu State. Materials and Methods The descriptive survey design was adopted for the study. The population comprised of all the 50,736 senior secondary school students in government-owned secondary schools in Enugu State, Nigeria. The sample size for the study was 900 students. Four research questions and two hypotheses were posed for the study. A researcher-made questionnaire cum data collection form (PPCOD) was the instrument used for the study. The instrument was validated by three research experts and the reliability was tested using Kuder Richardson's formula – 20 (K –R20) at a 0.05 level of significance and a reliability coefficient of 0.97 was derived. Frequencies, percentages, and chi-square statistics at a 0.05 level of significance were utilized for data analyses. Results The prevalence of COD was 30.6% for dental caries and 19.2% for periodontal disease. The gender-related prevalence of COD was higher among males (33.9% and 31.8%) than females (29% and 13.4%). The prevalence of COD increased with increase in age. The prevalence of COD was higher among students in the rural secondary schools (37.2% and 21.6%) than their urban counterparts (27.3% and 18%). There was no significant gender-difference in the prevalence of dental caries (p>0.05) but there was a significant gender-difference in the prevalence of periodontal diseases among the students (p
- Published
- 2021
- Full Text
- View/download PDF
195. Return of the prodigal son; Lunch with the FT: fallen Vivendi chief Jean-Marie Messier talks about forgiveness and the future. By Jo Johnson
- Author
-
Johnson, Jo
- Subjects
Banking, finance and accounting industries ,Business ,Business, international - Abstract
Waiting at a corner table in the Stella Maris, a chic little restaurant by the Arc de Triomphe, I think back to the last time I saw Jean-Marie Messier. It [...]
- Published
- 2009
196. RETIRED: Investigation and Management of Non-immune Fetal Hydrops
- Author
-
Désilets, Valérie, primary, Audibert, François, additional, Wilson, R., additional, Audibert, Francois, additional, Brock, Jo-Ann, additional, Carroll, June, additional, Cartier, Lola, additional, Gagnon, Alain, additional, Johnson, Jo-Ann, additional, Langlois, Sylvie, additional, MacDonald, William, additional, Murphy-Kaulbeck, Lynn, additional, Okun, Nanette, additional, Pastuck, Melanie, additional, and Senikas, Vyta, additional
- Published
- 2013
- Full Text
- View/download PDF
197. Archivée: Exploration et prise en charge de l’anasarque fœtoplacentaire non immune
- Author
-
Désilets, Valérie, primary, Audibert, François, additional, Douglas Wilson, R., additional, Audibert, Francois, additional, Brock, Jo-Ann, additional, Carroll, June, additional, Cartier, Lola, additional, Gagnon, Alain, additional, Johnson, Jo-Ann, additional, Langlois, Sylvie, additional, MacDonald, William, additional, Murphy-Kaulbeck, Lynn, additional, Okun, Nanette, additional, Pastuck, Melanie, additional, and Senikas, Vyta, additional
- Published
- 2013
- Full Text
- View/download PDF
198. Recurrent Exophytic Meningioma in Pregnancy
- Author
-
Chow, Michelle S., primary, Mercier, Philippe A., additional, Omahen, David A., additional, Wood, Stephen L., additional, and Johnson, Jo-Ann M., additional
- Published
- 2013
- Full Text
- View/download PDF
199. RETIRED: Current Status in Non-Invasive Prenatal Detection of Down Syndrome, Trisomy 18, and Trisomy 13 Using Cell-Free DNA in Maternal Plasma
- Author
-
Langlois, Sylvie, primary, Brock, Jo-Ann, additional, Douglas Wilson, R., additional, Audibert, François, additional, Carroll, June, additional, Cartier, Lola, additional, Gagnon, Alain, additional, Johnson, Jo-Ann, additional, Langlois, Sylvie, additional, MacDonald, William, additional, Murphy-Kaulbeck, Lynn, additional, Okun, Nanette, additional, Pastuck, Melanie, additional, and Senikas, Vyta, additional
- Published
- 2013
- Full Text
- View/download PDF
200. État actuel du dépistage prénatal non effractif du syndrome de Down, de la trisomie 18 et de la trisomie 13 au moyen d’ADN acellulaire se trouvant dans le plasma maternel
- Author
-
Langlois, Sylvie, primary, Brock, Jo-Ann, additional, Douglas Wilson, R., additional, Audibert, François, additional, Carroll, June, additional, Cartier, Lola, additional, Gagnon, Alain, additional, Johnson, Jo-Ann, additional, Langlois, Sylvie, additional, MacDonald, William, additional, Murphy-Kaulbeck, Lynn, additional, Okun, Nanette, additional, Pastuck, Melanie, additional, and Senikas, Vyta, additional
- Published
- 2013
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.