Sökning: onr:"swepub:oai:DiVA.org:umu-103155" > Mutations in Collag...
Fältnamn | Indikatorer | Metadata |
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000 | 04427naa a2200493 4500 | |
001 | oai:DiVA.org:umu-103155 | |
003 | SwePub | |
008 | 150518s2015 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1031552 URI |
024 | 7 | a https://doi.org/10.1002/humu.227642 DOI |
040 | a (SwePub)umu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Jonsson, Fridau Umeå universitet,Medicinsk och klinisk genetik4 aut0 (Swepub:umu)frajon98 |
245 | 1 0 | a Mutations in Collagen, Type XVII, Alpha 1 (COL17A1) Cause Epithelial Recurrent Erosion Dystrophy (ERED) |
264 | c 2015-03-31 | |
264 | 1 | b John Wiley & Sons,c 2015 |
338 | a print2 rdacarrier | |
500 | a Contract grant sponsors: Umeå University and Västerbotten County Council, Research and Development Foundation sponsored by Västerbotten County Council, Cronqvists Stiftelse (administered by The Swedish Society of Medicine); Ögonfonden, Stiftelsen KMA; the National Swedish Research Council (521-2013-2612); National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology; Moorfields Special Trustees; Moorfields Eye Charity; the Lanvern foundation. | |
520 | a Corneal dystrophies are a clinically and genetically heterogeneous group of inherited disorders that bilaterally affect corneal transparency. They are defined according to the corneal layer affected and by their genetic cause. In this study, we identified a dominantly inherited epithelial recurrent erosion dystrophy (ERED)-like disease that is common in northern Sweden. Whole-exome sequencing resulted in the identification of a novel mutation, c.2816C>T, p.T939I, in the COL17A1 gene, which encodes collagen type XVII alpha 1. The variant segregated with disease in a genealogically expanded pedigree dating back 200 years. We also investigated a unique COL17A1 synonymous variant, c.3156C>T, identified in a previously reported unrelated dominant ERED-like family linked to a locus on chromosome 10q23-q24 encompassing COL17A1. We show that this variant introduces a cryptic donor site resulting in aberrant pre-mRNA splicing and is highly likely to be pathogenic. Bi-allelic COL17A1 mutations have previously been associated with a recessive skin disorder, junctional epidermolysis bullosa, with recurrent corneal erosions being reported in some cases. Our findings implicate presumed gain-of-function COL17A1 mutations causing dominantly inherited ERED and improve understanding of the underlying pathology. | |
650 | 7 | a LANTBRUKSVETENSKAPERx Veterinärmedicinx Medicinsk biovetenskap0 (SwePub)403012 hsv//swe |
650 | 7 | a AGRICULTURAL SCIENCESx Veterinary Sciencex Medical Bioscience0 (SwePub)403012 hsv//eng |
653 | a COL17A1 | |
653 | a BP180 | |
653 | a cornea dystrophy | |
653 | a ERED | |
653 | a ddPCR | |
700 | 1 | a Byström, Beritu Umeå universitet,Oftalmiatrik4 aut0 (Swepub:umu)beby0002 |
700 | 1 | a Davidson, Alice E.u UCL Institute of Ophthalmology, London, UK4 aut |
700 | 1 | a Backman, Ludvig J.u Umeå universitet,Anatomi4 aut0 (Swepub:umu)lugban04 |
700 | 1 | a Kellgren, Thereseu Umeå universitet,Institutionen för matematik och matematisk statistik,Computational Life Science Cluster (CLiC)4 aut0 (Swepub:umu)thegan04 |
700 | 1 | a Tuft, Stephen J.u UCL Institute of Ophthalmology, London, UK; Moorfields Eye Hospital, London, UK4 aut |
700 | 1 | a Koskela, Timou Koskelas Eye Clinic, Umeå, Sweden4 aut |
700 | 1 | a Ryden, Patriku Umeå universitet,Institutionen för matematik och matematisk statistik,Computational Life Science Cluster (CLiC)4 aut0 (Swepub:umu)pary0001 |
700 | 1 | a Sandgren, Olau Umeå universitet,Oftalmiatrik4 aut0 (Swepub:umu)olsa0001 |
700 | 1 | a Danielson, Patriku Umeå universitet,Anatomi4 aut0 (Swepub:umu)pakdan00 |
700 | 1 | a Hardcastle, Alison J.u UCL Institute of Ophthalmology, London, UK4 aut |
700 | 1 | a Golovleva, Irinau Umeå universitet,Medicinsk och klinisk genetik4 aut0 (Swepub:umu)irgo0001 |
710 | 2 | a Umeå universitetb Medicinsk och klinisk genetik4 org |
773 | 0 | t Human Mutationd : John Wiley & Sonsg 36:4, s. 463-473q 36:4<463-473x 1059-7794x 1098-1004 |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-103155 |
856 | 4 8 | u https://doi.org/10.1002/humu.22764 |
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