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Book ; Online: Monte Carlo studies of extensions of the Blume-Emery-Griffiths model

Loois, C. C. / Barkema, G. T. / Smith, C. Morais

2008

Abstract: We extend the Blume-Emery-Griffiths (BEG) model to a two-component BEG model in order to study 2D ...

Abstract	We extend the Blume-Emery-Griffiths (BEG) model to a two-component BEG model in order to study 2D systems with two order parameters, such as magnetic superconductors or two-component Bose-Einstein condensates. The model is investigated using Monte Carlo simulations, and the temperature-concentration phase diagram is determined in the presence and absence of an external magnetic field. This model exhibits a rich phase diagram, including a second-order transition to a phase where superconductivity and magnetism coexist. Results are compared with experiments on Cerium-based heavy-fermion superconductors. To study cold atom mixtures, we also simulate the BEG and two-component BEG models with a trapping potential. In the BEG model with a trap, there is no longer a first order transition to a true phase-separated regime, but a crossover to a kind of phase-separated region. The relation with imbalanced fermi-mixtures is discussed. We present the phase diagram of the two-component BEG model with a trap, which can describe boson-boson mixtures of cold atoms. Although there are no experimental results yet for the latter, we hope that our predictions could help to stimulate future experiments in this direction. Comment: 9 pages, 12 figures
Keywords	Condensed Matter - Statistical Mechanics ; Condensed Matter - Superconductivity
Subject code	612
Publishing date	2008-08-15
Publishing country	us
Document type	Book ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article: Emery-Dreifuss muscular dystrophy.

Dickey, R P / Ziter, F A / Smith, R A

The Journal of pediatrics

1984 Volume 104, Issue 4, Page(s) 555–559

Abstract: Emery-Dreifuss dystrophy, an X-linked disorder, is a recently recognized distinct ...

Abstract	Emery-Dreifuss dystrophy, an X-linked disorder, is a recently recognized distinct neuromuscular disease with special pediatric implications. We describe three affected boys with the typical early contractures and weakness. Two patients are from a large kindred that includes older affected males and carrier females, both of whom had lethal cardiac disease by mid-adulthood. The atrial arrhythmias are treatable by pacemaker if the diagnosis is established beforehand.
MeSH term(s)	Adolescent ; Adult ; Arrhythmias, Cardiac/etiology ; Child ; Female ; Heterozygote ; Humans ; Male ; Middle Aged ; Muscular Dystrophies/complications ; Muscular Dystrophies/genetics ; Muscular Dystrophies/pathology ; Muscular Dystrophy, Emery-Dreifuss ; Sex Chromosome Aberrations/complications ; Sex Chromosome Aberrations/pathology ; X Chromosome
Language	English
Publishing date	1984-04
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	3102-1
ISSN	1097-6833 ; 0022-3476
ISSN (online)	1097-6833
ISSN	0022-3476
DOI	10.1016/s0022-3476(84)80546-6
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Article: The Emery-Dreifuss muscular dystrophy associated-protein emerin is phosphorylated on serine 49 by protein kinase A.

Roberts, Rhys C / Sutherland-Smith, Andrew J / Wheeler, Matthew A / Jensen, Ole Norregaard / Emerson, Lindsay J / Spiliotis, Ioannis I / Tate, Christopher G / Kendrick-Jones, John / Ellis, Juliet A

The FEBS journal

2006 Volume 273, Issue 19, Page(s) 4562–4575

Abstract: ... in its gene give rise to X-linked Emery-Dreifuss muscular dystrophy (X-EDMD), a neuromuscular condition ...

Abstract	Emerin is a ubiquitously expressed inner nuclear membrane protein of unknown function. Mutations in its gene give rise to X-linked Emery-Dreifuss muscular dystrophy (X-EDMD), a neuromuscular condition with an associated life-threatening cardiomyopathy. We have previously reported that emerin is phosphorylated in a cell cycle-dependent manner in human lymphoblastoid cell lines [Ellis et al. (1998) Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the EDMD phenotype. J. Cell Sci. 111, 781-792]. Recently, five residues in human emerin were identified as undergoing cell cycle-dependent phosphorylation using a Xenopus egg mitotic cytosol model system (Hirano et al. (2005) Dissociation of emerin from BAF is regulated through mitotic phosphorylation of emerin in a Xenopus egg cell-free system. J. Biol. Chem.280, 39 925-39 933). In the present paper, recombinant human emerin was purified from a baculovirus-Sf9 heterogeneous expression system, analyzed by protein mass spectrometry and shown to exist in at least four different phosphorylated species, each of which could be dephosphorylated by treatment with alkaline phosphatase. Further analysis identified three phosphopeptides with m/z values of 2191.9 and 2271.7 corresponding to the singly and doubly phosphorylated peptide 158-DSAYQSITHYRPVSASRSS-176, and a m/z of 2396.9 corresponding to the phosphopeptide 47-RLSPPSSSAASSYSFSDLNSTR-68. Sequence analysis confirmed that residue S49 was phosphorylated and also demonstrated that this residue was phosphorylated in interphase. Using an in vitro protein kinase A assay, we observed two phospho-emerin species, one of which was phosphorylated at residue S49. Protein kinase A is thus the first kinase that has been identified to specifically phosphorylate emerin. These results improve our understanding of the molecular mechanisms underlying X-EDMD and point towards possible signalling pathways involved in regulating emerin's functions.
MeSH term(s)	A Kinase Anchor Proteins ; Adaptor Proteins, Signal Transducing/metabolism ; Amino Acid Sequence ; Cyclic AMP-Dependent Protein Kinases/physiology ; Humans ; Membrane Proteins/chemistry ; Membrane Proteins/metabolism ; Molecular Sequence Data ; Nuclear Envelope/metabolism ; Nuclear Proteins/chemistry ; Nuclear Proteins/metabolism ; Phosphorylation ; Recombinant Proteins/biosynthesis ; Recombinant Proteins/chemistry ; Serine ; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
Chemical Substances	A Kinase Anchor Proteins ; AKAP1 protein, human ; Adaptor Proteins, Signal Transducing ; Membrane Proteins ; Nuclear Proteins ; Recombinant Proteins ; emerin ; Serine (452VLY9402) ; Cyclic AMP-Dependent Protein Kinases (EC 2.7.11.11)
Language	English
Publishing date	2006-09-14
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2173655-8
ISSN	1742-4658 ; 1742-464X
ISSN (online)	1742-4658
ISSN	1742-464X
DOI	10.1111/j.1742-4658.2006.05464.x
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Article: Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28.

Yates, J R / Warner, J P / Smith, J A / Deymeer, F / Azulay, J P / Hausmanowa-Petrusewicz, I / Zaremba, J / Borkowska, J / Affara, N A / Ferguson-Smith, M A

Journal of medical genetics

1993 Volume 30, Issue 2, Page(s) 108–111

Abstract: Emery-Dreifuss muscular dystrophy (EMD) is characterised by (1) early contractures ... with X linked Emery-Dreifuss muscular dystrophy studied with DNA markers from Xq27-qter and three ...

Abstract	Emery-Dreifuss muscular dystrophy (EMD) is characterised by (1) early contractures of the Achilles tendons, elbows, and postcervical muscles, (2) slowly progressive muscle wasting and weakness with a predominantly humeroperoneal distribution in the early stages, and (3) cardiomyopathy with conduction defects and risk of sudden death. Inheritance is usually X linked recessive but can be autosomal dominant. Family linkage studies have mapped X linked EMD to the distal long arm of the X chromosome but precise genetic localisation has been hampered by the rarity of this condition. We report three new families with X linked Emery-Dreifuss muscular dystrophy studied with DNA markers from Xq27-qter and three previously published families typed for additional markers. No recombination was observed with the red/green cone pigment locus, RGCP (lod score, Z = 2.46), the factor VIII coagulant gene locus, F8C (Z = 6.39), or with DXS115 (Z = 4.94). Two recombinants were observed which mapped EMD distal to DXS15 (DX13) and DXS52 (St14) respectively. Multipoint linkage analysis gave odds exceeding 200:1 for EMD being distal to these markers. A multipoint analysis incorporating published data gave the map cen-DXS304-9cM-DXS15-3cM-DXS52-2 cM-(RGCP,EMD)-3cM-F8C-2cM-DXS115 with odds of 120:1 in favour of a location for EMD between DXS52 and F8C as compared to the next best position distal to F8C.
MeSH term(s)	Adult ; Child ; Chromosome Mapping ; DNA/genetics ; Female ; Genetic Linkage ; Genetic Markers ; Humans ; Lod Score ; Male ; Muscular Dystrophies/genetics ; Muscular Dystrophy, Emery-Dreifuss ; Pedigree ; X Chromosome
Chemical Substances	Genetic Markers ; DNA (9007-49-2)
Language	English
Publishing date	1993-02
Publishing country	England
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	220881-7
ISSN	1468-6244 ; 0022-2593
ISSN (online)	1468-6244
ISSN	0022-2593
DOI	10.1136/jmg.30.2.108
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Article: Unlocking Potentially Therapeutic Phytochemicals in Capadulla (

Smith, Ewart / Lewis, Ainsely / Narine, Suresh S / Emery, R J Neil

Metabolites

2023 Volume 13, Issue 10

Abstract: Doliocarpus ... ...

Abstract	Doliocarpus dentatus
Language	English
Publishing date	2023-10-03
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662251-8
ISSN	2218-1989
ISSN	2218-1989
DOI	10.3390/metabo13101050
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Article: Emery-Dreifuss muscular dystrophy: localisation to Xq27.3----qter confirmed by linkage to the factor VIII gene.

Yates, J R / Affara, N A / Jamieson, D M / Ferguson-Smith, M A / Hausmanowa-Petrusewicz, I / Zaremba, J / Borkowska, J / Johnston, A W / Kelly, K

Journal of medical genetics

1986 Volume 23, Issue 6, Page(s) 587–590

Abstract: Two families with Emery-Dreifuss muscular dystrophy (EMD) have been studied with DNA markers ...

Abstract	Two families with Emery-Dreifuss muscular dystrophy (EMD) have been studied with DNA markers mapping to Xq27.3----qter. No recombination was observed in 11 phase known meioses informative for the factor VIII gene (F8C) and eight phase known meioses informative for DXS15 (DX13), giving maximum lod scores of 3.50 and 2.50 respectively at a recombination fraction of zero. DXS52 (St14) showed one recombinant in 12 phase known meioses giving a maximum lod score of 2.62 at a recombination fraction of 0.07. These results map EMD to the distal end of the long arm of the X chromosome and are an important step in the development of tests for carrier detection and prenatal diagnosis.
MeSH term(s)	Chromosome Mapping ; Factor VIII/genetics ; Genetic Linkage ; Humans ; Male ; Muscular Dystrophies/genetics ; Pedigree ; Polymorphism, Restriction Fragment Length ; Recombination, Genetic ; Syndrome ; X Chromosome
Chemical Substances	Factor VIII (9001-27-8)
Language	English
Publishing date	1986-12
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	220881-7
ISSN	1468-6244 ; 0022-2593
ISSN (online)	1468-6244
ISSN	0022-2593
DOI	10.1136/jmg.23.6.587
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Article ; Online: Exploring the Use of Photovoice in Understanding the Lived Experience of Neurological Conditions

James Smith / Andre Nels / Laura Emery / Mandy Stanley

International Journal of Qualitative Methods, Vol

A Scoping Review and Reflexive Thematic Analysis

2023 Volume 22

Abstract: People living with neurological conditions such as multiple sclerosis, Parkinson’s disease and dementia may experience physical impairment, social disengagement, cognitive issues, and emotional disturbances. While qualitative research utilising in-depth ... ...

Abstract	People living with neurological conditions such as multiple sclerosis, Parkinson’s disease and dementia may experience physical impairment, social disengagement, cognitive issues, and emotional disturbances. While qualitative research utilising in-depth interviews can access lived experience perspectives, the use of photovoice has the potential to obtain rich insights that include images and raise community awareness. The purpose of this scoping review was to document salient themes relating to the lived experience of neurological conditions as reported in photovoice studies. Following established scoping review methods of the Joanna Briggs Institute, a comprehensive search of five electronic databases, including MEDLINE, EMBASE, PSYCHINFO, CINAHL, and SCOPUS was conducted, as well as relevant journals and reference lists of retrieved studies. References were sorted, screened, and evaluated for inclusion using Endnote and Rayyan. The search results and the study inclusion process were reported in full in the final scoping review and presented in a PRISMA-ScR flow diagram. Reflexive thematic analysis was managed through NVivo to identify and synthesise findings, as well as identify themes. Following the removal of duplicates, the search identified 109 articles for title and abstract screening. The final dataset consisted of 25 studies published between 2007 and 2021. Two themes were identified: 1) ‘Losses and benefit finding’ focuses on the lived experience of people with neurological conditions including being pushed aside by society, a progressive decline of self and growing as a result of losses; 2) ‘Challenges of using photovoice in neurological research’ covers the confusion of terminology and implementation complexities and adaption. Societal change is needed for greater inclusion of people living with neurological conditions. Future studies using photovoice need to pay attention to methodological issues and include the recommended final step of the photovoice process to hold gallery exhibits to disseminate ...
Keywords	Social sciences (General) ; H1-99
Language	English
Publishing date	2023-02-01T00:00:00Z
Publisher	SAGE Publishing
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Correction to: Spatial variation in aquatic invertebrate and riparian songbird mercury exposure across a river-reservoir system with a legacy of mercury contamination.

Jackson, Allyson K / Eagles-Smith, Collin A / Emery, Colleen

Ecotoxicology (London, England)

2019 Volume 29, Issue 8, Page(s) 1205–1206

Abstract: An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...

Abstract	An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Language	English
Publishing date	2019-09-09
Publishing country	United States
Document type	Published Erratum
ZDB-ID	34042-x
ISSN	1573-3017 ; 0963-9292
ISSN (online)	1573-3017
ISSN	0963-9292
DOI	10.1007/s10646-019-02092-4
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Article ; Online: Quantifying cerebral microbleeds using quantitative susceptibility mapping from magnetization-prepared rapid gradient-echo.

Naji, Nashwan / Gee, Myrlene / Jickling, Glen C / Emery, Derek J / Saad, Feryal / McCreary, Cheryl R / Smith, Eric E / Camicioli, Richard / Wilman, Alan H

NMR in biomedicine

2024 , Page(s) e5139

Abstract: T1-weighted magnetization-prepared rapid gradient-echo (MPRAGE) is commonly included in brain studies for structural imaging using magnitude images; however, its phase images can provide an opportunity to assess microbleed burden using quantitative ... ...

Abstract	T1-weighted magnetization-prepared rapid gradient-echo (MPRAGE) is commonly included in brain studies for structural imaging using magnitude images; however, its phase images can provide an opportunity to assess microbleed burden using quantitative susceptibility mapping (QSM). This potential application for MPRAGE-based QSM was evaluated using in vivo and simulated measurements. Possible factors affecting image quality were also explored. Detection sensitivity was evaluated against standard multiecho gradient echo (MEGE) QSM using 3-T in vivo data of 15 subjects with a combined total of 108 confirmed microbleeds. The two methods were compared based on the microbleed size and susceptibility measurements. In addition, simulations explored the detection sensitivity of MPRAGE-QSM at different representative magnetic field strengths and echo times using microbleeds of different size, susceptibility, and location. Results showed that in vivo microbleeds appeared to be smaller (× 0.54) and of higher mean susceptibility (× 1.9) on MPRAGE-QSM than on MEGE-QSM, but total susceptibility estimates were in closer agreement (slope: 0.97, r
Language	English
Publishing date	2024-03-11
Publishing country	England
Document type	Journal Article
ZDB-ID	1000976-0
ISSN	1099-1492 ; 0952-3480
ISSN (online)	1099-1492
ISSN	0952-3480
DOI	10.1002/nbm.5139
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Article ; Online: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy: patterns of community and healthcare provider participation in a Victorian screening program.

Leibowitz, Ruth / Lewis, Sharon / Emery, Jon / Massie, John / Smith, Melanie / Delatycki, Martin / Archibald, Alison

Australian journal of primary health

2022 Volume 28, Issue 6, Page(s) 580–587

Abstract: Background: The Royal Australian and New Zealand College of Obstetricians and Gynaecologists and The Royal Australian College of General Practice recommend that information on carrier screening for at least the most common inherited genetic conditions ... ...

Abstract	Background: The Royal Australian and New Zealand College of Obstetricians and Gynaecologists and The Royal Australian College of General Practice recommend that information on carrier screening for at least the most common inherited genetic conditions in our population, that is, thalassaemia, cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome (FXS), should be offered to all women planning pregnancy or in early pregnancy regardless of family history or ethnicity. The aim of this study was to investigate patterns of participation by healthcare providers (HCP) and the community in screening. Methods: Participation in a Victorian program screening for CF, SMA and FXS between September 2013 and October 2018 was analysed. Requesting HCP and patient data were extracted from screening request forms. Data were analysed with respect to profession of requesting HCP, and characteristics of women screened (age, pregnancy status, socioeconomic status, geographic location, and family history of CF, SMA or FXS). In total, 21 172 women and 1288 HCPs participated in the program over this period. Results: There was a steep socioeconomic gradient in screening uptake, with nearly half the women screened (10 349) being in the highest socioeconomic quintile. The screening rate was much higher in metropolitan areas than in regional areas. Obstetricians made most of the requests for screening, whereas 20% of requests were by GPs. Most participating GPs only made a single screening request (78%) and very few GPs made >100 screening requests compared with obstetricians (0.2% vs 17%). GPs were more likely to screen women before pregnancy compared with obstetricians (47% vs 11%). Approximately 1.5% of Victorian women of child-bearing age and 3% of pregnant Victorian women were screened by this program over the period of this study. Conclusion: This study highlights the translation gap between recommendations and practice, with marked inequity of access to reproductive genetic carrier screening in relation to socioeconomic status and geography. Increased participation by GPs could improve community access to reproductive genetic carrier screening, particularly access to preconception screening. Addressing the causes of inequity of access will allow more women and couples the opportunity to make informed choices about participation in screening.
MeSH term(s)	Female ; Pregnancy ; Humans ; Genetic Carrier Screening ; Fragile X Syndrome/diagnosis ; Fragile X Syndrome/genetics ; Cystic Fibrosis/diagnosis ; Cystic Fibrosis/genetics ; Australia ; Muscular Atrophy, Spinal ; Health Personnel
Language	English
Publishing date	2022-09-30
Publishing country	Australia
Document type	Journal Article
ZDB-ID	2566332-X
ISSN	1836-7399 ; 1448-7527
ISSN (online)	1836-7399
ISSN	1448-7527
DOI	10.1071/PY21247
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