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Synthetic Cannabinoid Receptor Agonists in Postmortem Casework in Scotland.
J Anal Toxicol
January 2023
Department of Forensic Medicine and Science, University of Glasgow, Joseph Black Building, University Place, Glasgow G12 8QQ, UK.
Synthetic cannabinoid receptor agonists (SCRAs) have been a concern to forensic toxicologists since their emergence as drugs of abuse in the mid-late 2000s. The extent of their use in Scotland appears to be low especially when compared to other drug groups such as opioids and benzodiazepines. There is a concern, however, that the use is widespread in prison populations in particular.
View Article and Find Full Text PDFNovel TEAD1 gene variant in a Serbian family with Sveinsson's chorioretinal atrophy.
Exp Eye Res
June 2021
Department of Biology and Human Genetics, School of Dental Medicine, University of Belgrade, Dr Subotića 1, 11000, Belgrade, Serbia. Electronic address:
Sveinsson's chorioretinal atrophy (SCRA) or helicoidal peripapillary chorioretinal degeneration (HPCD) as previously referred, is a rare ocular disease with autosomal dominant pattern of inheritance. The vast majority of reported cases were of Icelandic origin but the characteristic clinical picture of SCRA was also described in patients of non-Icelandic descent. Here, we report a novel disease-causing variant c.
View Article and Find Full Text PDFTwo pathologically confirmed cases of novel mutations in the MAPT gene causing frontotemporal dementia.
Neurobiol Aging
March 2020
Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK. Electronic address:
MAPT mutations were the first discovered genetic cause of frontotemporal dementia (FTD) in 1998. Since that time, over 60 MAPT mutations have been identified, usually causing behavioral variant FTD and/or parkinsonism clinically. We describe 2 novel MAPT mutations, D252V and G389_I392del, each presenting in a patient with behavioral variant FTD and associated language and cognitive deficits.
View Article and Find Full Text PDFMolecular and structural characterization of a TEAD mutation at the origin of Sveinsson's chorioretinal atrophy.
FEBS J
June 2019
Disease Area Oncology, Novartis Institutes for Biomedical Research, Basel, Switzerland.
Four TEAD transcription factors (TEAD1-4) mediate the signalling output of the Hippo pathway that controls organ size in humans. TEAD transcriptional activity is regulated via interactions with the YAP, TAZ and VGLL proteins. A mutation in the TEAD1 gene, Tyr421His, has been identified in patients suffering from Sveinsson's chorioretinal atrophy (SCA), an autosomal dominant eye disease.
View Article and Find Full Text PDFAnalysis of helicoidal peripapillary chorioretinal degeneration progression in an elderly Chinese female patient.
Can J Ophthalmol
April 2018
Department of Zhengzhou Second People Hospital, Ophthalmology, Zhengzhou Eye Hospital, Zhengzhou Ophthalmic Institution, Zhengzhou, China.
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