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All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year Sort by creator [A → Z]' creator [Z → A]' publishing year ↑ (asc)' publishing year ↓ (desc)' title [A → Z]' title [Z → A]' Simple Search Page: 1 2 Hits 1 – 20 of 33 1 High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report ... Glacken-Byrne, Aisling Mc; Prentice, David; Roshandel, Danial. - : figshare, 2020 BASE Show details 2 High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report ... Glacken-Byrne, Aisling Mc; Prentice, David; Roshandel, Danial. - : figshare, 2020 BASE Show details 3 High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report Mc Glacken-Byrne, Aisling B.; Prentice, David; Roshandel, Danial; Brown, Michael R.; Tuch, Philip; Yau, Kyle S.-Y.; Sivadorai, Padma; Davis, Mark R.; Laing, Nigel G.; Chen, Fred K.. - : BioMed Central, 2020 Abstract: BACKGROUND: Congenital mydriasis and retinal arteriolar tortuosity are associated with the life-threatening multisystemic smooth muscle dysfunction syndrome (MSMDS) due to mutations in the gene, ACTA2, which encodes alpha-smooth muscle actin (α-SMA). Previous reports attributed MSMDS-related congenital mydriasis to the absence of iris sphincter muscle. Similarly, it has been hypothesized that abnormal proliferation of the vascular smooth muscle cells causes the marked tortuosity of retinal arterioles in MSMDS. In this report, high-resolution ocular imaging reveals unexpected findings that reject previous hypotheses. CASE PRESENTATION: The proband is a 37-year-old female with a history of neonatal patent ductus arteriosus (PDA) ligation, left-sided choreiform movements at the age of 11 and a transient aphasia with right-sided weakness at the age of 30. Her older sister also had PDA ligation and congenital mydriasis but no neurological deficit up to age 41. Magnetic resonance angiogram demonstrated cerebrovascular lesions resembling but distinct from Moyamoya disease, characterised by internal carotid artery dilatation, terminal segment stenosis and absent basal collaterals. Their mother had poorly reactive pupils with asymptomatic cerebral arteriopathy resembling her daughters. All three had prominent retinal arteriolar tortuosity. The daughters were heterozygous and the mother was a somatic mosaic for a novel c.351C > G (p.Asn117Lys) transversion in ACTA2. Iris optical coherence tomography (OCT) showed a hyporeflective band anterior to the pigment epithelium indicating the presence of dysfunctional sphincter muscle. Adaptive optics retinal imaging showed no thickening of the arteriolar vessel wall whilst OCT angiography showed extreme corkscrew course of arterioles suggesting vessel elongation. CONCLUSIONS: In addition to the known association between Met46, Arg179 and Arg258 substitutions and ACTA2-related arteriopathy, this case illustrates the possibility that Asn117 also plays an important role in α-SMA function within the cerebrovascular smooth muscle cell. MSMDS-related congenital mydriasis is due to reduced iris sphincter contractility rather than its absence. Retinal arteriolar tortuosity might be due to longitudinal proliferation of arteriolar smooth muscle cells. The described cerebrovascular and ocular signs are consistent with predicted effects of the novel Asn117Lys substitution in ACTA2. Keyword: Case Report URL: https://doi.org/10.1186/s12886-020-01344-w http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7038593/ http://www.ncbi.nlm.nih.gov/pubmed/32093627 BASE Hide details 4 Decision-making within missing person search [<Journal>] Harrington, Kyle [Verfasser]; Brown, Michael [Sonstige]; Pinchin, James [Sonstige]. DNB Subject Category Language Show details 5 Inga Rimakkuna: Indigenous Frontiers in the Pastaza Basin, Peru Homan, Joshua. - : University of Kansas, 2018 BASE Show details 6 The reality of the homeland security enterprise Information Sharing Environment Brown, Michael E.. - : Monterey, California: Naval Postgraduate School, 2017 BASE Show details 7 Autism and Visual Impairment: a Review of the Literature Butchart, Maggie; Long, Joseph J; Brown, Michael. - : BMC, 2017 BASE Show details 8 Using Parallel Corpora For Language Learning ... Brown, Michael H.. - : Zenodo, 2017 BASE Show details 9 Using Parallel Corpora For Language Learning ... Brown, Michael H.. - : Zenodo, 2017 BASE Show details 10 Nonhuman Animals And The Relative Pronoun 'Who' In English Learner'S Dictionaries And Graded Readers ... Brown, Michael H.. - : Zenodo, 2017 BASE Show details 11 Nonhuman Animals And The Relative Pronoun 'Who' In English Learner'S Dictionaries And Graded Readers ... Brown, Michael H.. - : Zenodo, 2017 BASE Show details 12 Using The Sentence Corpus Of Remedial English To Introduce Data-Driven Learning Tasks ... Brown, Michael H.. - : Zenodo, 2017 BASE Show details 13 Using The Sentence Corpus Of Remedial English To Introduce Data-Driven Learning Tasks ... Brown, Michael H.. - : Zenodo, 2017 BASE Show details 14 'Theaw Kon Ekspect No Mooar Eawt ov a Pig thin a Grunt' : Searching for the Radical Dialect Voice in Industrial Lancashire and the West Riding, 1798–1819 Navickas, Katrina. - : Pickering and Chatto, 2012 BASE Show details 15 The Effect of Cultural Competence on Special Education Referral Reyes, Shomara Yolanda. - : East Carolina University, 2010 BASE Show details 16 Fighting words : language policy and ethnic relations in Asia Callahan, Mary P. (Mitarb.); Brown, Michael E. (Hrsg.); DeVotta, Neil (Mitarb.). - Cambridge, Mass. [u.a.] : MIT Press, 2003 BLLDB UB Frankfurt Linguistik Show details 17 Fighting words : language policy and ethnic relations in Asia Brown, Michael E. (Hrsg.); Ganguly, Sumit (Hrsg.). - Cambridge, Mass. [u.a.] : The MIT Press, 2003 UB Frankfurt Linguistik Show details 18 Diagnosing written language disabilities using the Woodcock-Johnson Tests of Educational Achievement-Revised and the Wechsler Individual Achievement Test Brown, Michael B.; Giandenoto, Marc J.; Bolen, Larry M. In: Psychological reports. - Los Angeles [u.a.] : SAGE 87 (2000) 1, 197-204 BLLDB Show details 19 Leaky Scanning Is the Predominant Mechanism for Translation of Human Papillomavirus Type 16 E7 Oncoprotein from E6/E7 Bicistronic mRNA Stacey, Simon N.; Jordan, Deborah; Williamson, Andrew J. K.. - : American Society for Microbiology, 2000 BASE Show details 20 Language modeling using stochastic automata with variable length contexts Hu, Jianying; Turin, William; Brown, Michael K. In: Computer speech and language. - Amsterdam [u.a.] : Elsevier 11 (1997) 1, 1-16 BLLDB Show details Page: 1 2

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