Search Results - "Perryman, M"
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Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice
Published in Human molecular genetics (15-02-2010)“…Congenital heart defects comprise the most common form of major birth defects, affecting 0.7% of all newborn infants. Jacobsen syndrome (11q-) is a rare…”
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Posterior cortical atrophy: clinical characteristics and differences compared to Alzheimer's disease
Published in Dementia and geriatric cognitive disorders (01-01-2002)“…Predominant and progressive complex visual disorders are often due to posterior cortical atrophy (PCA), a rare early-onset dementing syndrome presenting with…”
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3
Phosphorylation of a constrained azacyclic FTY720 analog enhances anti-leukemic activity without inducing S1P receptor activation
Published in Leukemia (01-03-2017)“…The frequency of poor outcomes in relapsed leukemia patients underscores the need for novel therapeutic approaches. The Food and Drug Administration-approved…”
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4
The Hyades: distance, structure, dynamics, and age
Published 01-03-1998“…Astron.Astrophys.331:81,1998 We use absolute trigonometric parallaxes from the Hipparcos Catalogue to determine individual distances to members of the Hyades…”
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COVID-19: Dogma Over Potential for Prolonged Droplet Dispersal in Air
Published in Frontiers in public health (30-10-2020)Get full text
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Protein kinase C-related kinase targets nuclear localization signals in a subset of class IIa histone deacetylases
Published in FEBS letters (19-03-2010)“…Class IIa histone deacetylases (HDACs) -4, -5, -7 and -9 undergo signal-dependent nuclear export upon phosphorylation of conserved serine residues that are…”
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7
Analysis of Myosin Heavy Chain Functionality in the Heart
Published in The Journal of biological chemistry (09-05-2003)“…Comparison of mammalian cardiac α- and औ-myosin heavy chain isoforms reveals 937 identity. To date, genetic methodologies have effected only minor switches in…”
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‘I never knew it was so prevalent’: Experiences and perceptions of student health visitors recognising and responding to domestic abuse in practice placement settings
Published in Journal of research in nursing (19-10-2024)“…Background: Health visitors have a key role in supporting and protecting adults and children affected by domestic abuse. Aims: The study aimed to examine the…”
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Myotonic Dystrophy Protein Kinase Is Critical for Nuclear Envelope Integrity
Published in The Journal of biological chemistry (18-11-2011)“…Myotonic dystrophy 1 (DM1) is a multisystemic disease caused by a triplet nucleotide repeat expansion in the 3′ untranslated region of the gene coding for…”
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Gene-targeted deletion of OPCML and Neurotrimin in mice does not yield congenital heart defects
Published in American journal of medical genetics. Part A (01-04-2014)“…Jacobsen syndrome (11q‐) is a rare chromosomal disorder caused by deletions in distal11q. Many of the most common and severe congenital heart defects that…”
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Deletion of JAM-C, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice
Published in American journal of medical genetics. Part A (01-07-2009)“…The 11q terminal deletion disorder (11q‐) is a rare chromosomal disorder caused by a deletion in distal 11q. Fifty‐six percent of patients have clinically…”
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The Ku Protein Complex Interacts with YY1, Is Up-Regulated in Human Heart Failure, and Represses α Myosin Heavy-Chain Gene Expression
Published in Molecular and Cellular Biology (01-10-2004)“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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13
The design and performance of the Gaia photometric system
Published in Monthly notices of the Royal Astronomical Society (01-03-2006)“…The European Gaia astrometry mission is due for launch in 2011. Gaia will rely on the proven principles of the ESA Hipparcos mission to create an all-sky…”
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14
Use of a Rapid Assay of Subforms of Creatine Kinase MB to Diagnose or Rule Out Acute Myocardial Infarction
Published in The New England journal of medicine (01-09-1994)“…Each year 5 million patients with chest pain are evaluated in hospital emergency rooms in the United States 1 . Less than 30 percent of the patients admitted…”
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Obesity-related costs and the economic impact of laparoscopic adjustable gastric banding procedures: benefits in the Texas Employees Retirement System
Published in Journal of medical economics (14-07-2010)“…To assess the return on investment (ROI) and economic impact of providing insurance coverage for the laparoscopic adjustable gastric banding (LAGB) procedure…”
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Spectroscopic survey of the Galaxy with Gaia- I. Design and performance of the Radial Velocity Spectrometer
Published in Monthly notices of the Royal Astronomical Society (11-11-2004)“…ABSTRACT The definition and optimization studies for the Gaia satellite spectrograph, the ‘radial velocity spectrometer’ (RVS), converged in late 2002 with the…”
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17
An Unstable Triplet Repeat in a Gene Related to Myotonic Muscular Dystrophy
Published in Science (American Association for the Advancement of Science) (06-03-1992)“…Synthetic oligonucleotides containing GC-rich triplet sequences were used in a scanning strategy to identify unstable genetic sequences at the myotonic…”
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Decreased Expression of Myotonin-Protein Kinase Messenger RNA and Protein in Adult Form of Myotonic Dystrophy
Published in Science (American Association for the Advancement of Science) (09-04-1993)“…The myotonic dystrophy mutation has recently been identified; however, the molecular mechanism of the disease is still unknown. The sequence of the…”
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Angiotensin-converting enzyme DD genotype in patients with ischaemic or idiopathic dilated cardiomyopathy
Published in The Lancet (British edition) (30-10-1993)“…Polymorphism in the angiotensin-converting enzyme (ACE) gene has been shown to correlate with circulating ACE concentrations, and also to be an independent…”
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Single optical photon detection with a superconducting tunnel junction
Published in Nature (London) (09-05-1996)“…Peacock et al report a super-conducting device that can overcome limitations associated with decreasing wavelengths, and which has performance characteristics…”
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