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    • Prentice, David (4)
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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 Hits 1 – 4 of 4 1 Tropomyosin autoantibodies associated with checkpoint inhibitor myositis Zaenker, Pauline; Prentice, David; Ziman, Melanie In: Research outputs 2014 to 2021 (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 ... Glacken-Byrne, Aisling Mc; Prentice, David; Roshandel, Danial; Brown, Michael; Tuch, Philip; Yau, Kyle; Sivadorai, Padma; Davis, Mark; Laing, Nigel; Chen, Fred. - : figshare, 2020 Abstract: 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 ... Keyword: 69999 Biological Sciences not elsewhere classified; Biophysics; Cancer; Cell Biology; Computational Biology; FOS Biological sciences; FOS Sociology; Genetics; Medicine; Neuroscience; Physiology; Sociology; Space Science URL: https://springernature.figshare.com/collections/High-resolution_iris_and_retinal_imaging_in_multisystemic_smooth_muscle_dysfunction_syndrome_due_to_a_novel_Asn117Lys_substitution_in_ACTA2_a_case_report/4869417 https://dx.doi.org/10.6084/m9.figshare.c.4869417 BASE Hide details 4 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. - : BioMed Central, 2020 BASE Show details

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