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Mutations in CEP78 ...
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects
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- Nikopoulos, Konstantinos (författare)
- University of Lausanne
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- Farinelli, Pietro (författare)
- University of Lausanne
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- Giangreco, Basilio (författare)
- University of Lausanne
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- Tsika, Chrysanthi (författare)
- University of Crete
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- Royer-Bertrand, Beryl (författare)
- University of Lausanne
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- Mbefo, Martial K (författare)
- Jules Gonin Ophthalmic Hospital
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- Bedoni, Nicola (författare)
- University of Lausanne
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- Kjellström, Ulrika (författare)
- Lund University,Lunds universitet,Oftalmologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Ophthalmology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital
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- El Zaoui, Ikram (författare)
- University of Lausanne
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- Di Gioia, Silvio Alessandro (författare)
- University of Lausanne
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- Balzano, Sara (författare)
- University of Lausanne
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Cisarova, Katarina (författare)
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Messina, Andrea (författare)
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Decembrini, Sarah (författare)
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Plainis, Sotiris (författare)
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Blazaki, Styliani V (författare)
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Khan, Muhammad Imran (författare)
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Micheal, Shazia (författare)
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Boldt, Karsten (författare)
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Ueffing, Marius (författare)
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Moulin, Alexandre P (författare)
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Cremers, Frans P M (författare)
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Roepman, Ronald (författare)
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Arsenijevic, Yvan (författare)
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Tsilimbaris, Miltiadis K (författare)
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- Andréasson, Sten (författare)
- Lund University,Lunds universitet,Oftalmologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Ophthalmology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital
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Rivolta, Carlo (författare)
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(creator_code:org_t)
- Elsevier BV, 2016
- 2016
- Engelska 7 s.
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297. ; 99:3, s. 770-776
- Relaterad länk:
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http://dx.doi.org/10...
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http://www.cell.com/...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Cone-rod degeneration (CRD) belongs to the disease spectrum of retinal degenerations, a group of hereditary disorders characterized by an extreme clinical and genetic heterogeneity. It mainly differentiates from other retinal dystrophies, and in particular from the more frequent disease retinitis pigmentosa, because cone photoreceptors degenerate at a higher rate than rod photoreceptors, causing severe deficiency of central vision. After exome analysis of a cohort of individuals with CRD, we identified biallelic mutations in the orphan gene CEP78 in three subjects from two families: one from Greece and another from Sweden. The Greek subject, from the island of Crete, was homozygous for the c.499+1G>T (IVS3+1G>T) mutation in intron 3. The Swedish subjects, two siblings, were compound heterozygotes for the nearby mutation c.499+5G>A (IVS3+5G>A) and for the frameshift-causing variant c.633delC (p.Trp212Glyfs(∗)18). In addition to CRD, these three individuals had hearing loss or hearing deficit. Immunostaining highlighted the presence of CEP78 in the inner segments of retinal photoreceptors, predominantly of cones, and at the base of the primary cilium of fibroblasts. Interaction studies also showed that CEP78 binds to FAM161A, another ciliary protein associated with retinal degeneration. Finally, analysis of skin fibroblasts derived from affected individuals revealed abnormal ciliary morphology, as compared to that of control cells. Altogether, our data strongly suggest that mutations in CEP78 cause a previously undescribed clinical entity of a ciliary nature characterized by blindness and deafness but clearly distinct from Usher syndrome, a condition for which visual impairment is due to retinitis pigmentosa.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Oftalmologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Ophthalmology (hsv//eng)
Nyckelord
- Journal Article
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
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Till lärosätets databas
- Av författaren/redakt...
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Nikopoulos, Kons ...
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Farinelli, Pietr ...
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Giangreco, Basil ...
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Tsika, Chrysanth ...
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Royer-Bertrand, ...
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Mbefo, Martial K
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visa fler...
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Bedoni, Nicola
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Kjellström, Ulri ...
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El Zaoui, Ikram
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Di Gioia, Silvio ...
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Balzano, Sara
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Cisarova, Katari ...
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Messina, Andrea
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Decembrini, Sara ...
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Plainis, Sotiris
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Blazaki, Stylian ...
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Khan, Muhammad I ...
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Micheal, Shazia
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Boldt, Karsten
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Ueffing, Marius
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Moulin, Alexandr ...
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Cremers, Frans P ...
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Roepman, Ronald
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Arsenijevic, Yva ...
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Tsilimbaris, Mil ...
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Andréasson, Sten
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Rivolta, Carlo
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visa färre...
- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Oftalmologi
- Artiklar i publikationen
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American Journal ...
- Av lärosätet
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Lunds universitet