| http://purl.uniprot.org/citations/27650164 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27650164 | http://www.w3.org/2000/01/rdf-schema#comment | "The aryl hydrocarbon receptor interacting protein (AIP) founder mutation R304* (or p.R304* ; NM_003977.3:c.910C>T, p.Arg304Ter) identified in Northern Ireland (NI) predisposes to acromegaly/gigantism; its population health impact remains unexplored. We measured R304* carrier frequency in 936 Mid Ulster, 1,000 Greater Belfast (both in NI) and 2,094 Republic of Ireland (ROI) volunteers and in 116 NI or ROI acromegaly/gigantism patients. Carrier frequencies were 0.0064 in Mid Ulster (95%CI = 0.0027-0.013; P = 0.0005 vs. ROI), 0.001 in Greater Belfast (0.00011-0.0047) and zero in ROI (0-0.0014). R304* prevalence was elevated in acromegaly/gigantism patients in NI (11/87, 12.6%, P < 0.05), but not in ROI (2/29, 6.8%) versus non-Irish patients (0-2.41%). Haploblock conservation supported a common ancestor for all the 18 identified Irish pedigrees (81 carriers, 30 affected). Time to most recent common ancestor (tMRCA) was 2550 (1,275-5,000) years. tMRCA-based simulations predicted 432 (90-5,175) current carriers, including 86 affected (18-1,035) for 20% penetrance. In conclusion, R304* is frequent in Mid Ulster, resulting in numerous acromegaly/gigantism cases. tMRCA is consistent with historical/folklore accounts of Irish giants. Forward simulations predict many undetected carriers; geographically targeted population screening improves asymptomatic carrier identification, complementing clinical testing of patients/relatives. We generated disease awareness locally, necessary for early diagnosis and improved outcomes of AIP-related disease."xsd:string |
| http://purl.uniprot.org/citations/27650164 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.23121"xsd:string |
| http://purl.uniprot.org/citations/27650164 | http://purl.uniprot.org/core/author | "Ellard S."xsd:string |
| http://purl.uniprot.org/citations/27650164 | http://purl.uniprot.org/core/author | "Levy M."xsd:string |
| http://purl.uniprot.org/citations/27650164 | http://purl.uniprot.org/core/author | "Cohen M."xsd:string |
| http://purl.uniprot.org/citations/27650164 | http://purl.uniprot.org/core/author | "Thomas M.G."xsd:string |
| http://purl.uniprot.org/citations/27650164 | http://purl.uniprot.org/core/author | "Burger J."xsd:string |
| http://purl.uniprot.org/citations/27650164 | http://purl.uniprot.org/core/author | "Barkan A."xsd:string |
| http://purl.uniprot.org/citations/27650164 | http://purl.uniprot.org/core/author | "Thompson C.J."xsd:string |
| http://purl.uniprot.org/citations/27650164 | http://purl.uniprot.org/core/author | "Holland B."xsd:string |
| http://purl.uniprot.org/citations/27650164 | http://purl.uniprot.org/core/author | "Hernandez-Ramirez L.C."xsd:string |
| http://purl.uniprot.org/citations/27650164 | http://purl.uniprot.org/core/author | "Korbonits M."xsd:string |
| http://purl.uniprot.org/citations/27650164 | http://purl.uniprot.org/core/author | "Trivellin G."xsd:string |
| http://purl.uniprot.org/citations/27650164 | http://purl.uniprot.org/core/author | "Kumar A.V."xsd:string |
| http://purl.uniprot.org/citations/27650164 | http://purl.uniprot.org/core/author | "Hunter S.J."xsd:string |
| http://purl.uniprot.org/citations/27650164 | http://purl.uniprot.org/core/author | "Morrison P.J."xsd:string |
| http://purl.uniprot.org/citations/27650164 | http://purl.uniprot.org/core/author | "Thakker R.V."xsd:string |
| http://purl.uniprot.org/citations/27650164 | http://purl.uniprot.org/core/author | "Stals K."xsd:string |
| http://purl.uniprot.org/citations/27650164 | http://purl.uniprot.org/core/author | "McManus R."xsd:string |
| http://purl.uniprot.org/citations/27650164 | http://purl.uniprot.org/core/author | "Atkinson B."xsd:string |
| http://purl.uniprot.org/citations/27650164 | http://purl.uniprot.org/core/author | "Ryan A.W."xsd:string |
| http://purl.uniprot.org/citations/27650164 | http://purl.uniprot.org/core/author | "Mercado M."xsd:string |
| http://purl.uniprot.org/citations/27650164 | http://purl.uniprot.org/core/author | "Abid N."xsd:string |
| http://purl.uniprot.org/citations/27650164 | http://purl.uniprot.org/core/author | "Gabrovska P."xsd:string |