dc.contributor.author | Bayrakli, Fatih | |
dc.contributor.author | Okten, Ali Ihsan | |
dc.contributor.author | Kartal, Ugur | |
dc.contributor.author | Menekse, Guner | |
dc.contributor.author | Guzel, Aslan | |
dc.contributor.author | Oztoprak, Ibrahim | |
dc.contributor.author | Pinarbasi, Ergun | |
dc.contributor.author | Kars, Hamit Zafer | |
dc.date.accessioned | 2019-07-27T12:10:23Z | |
dc.date.accessioned | 2019-07-28T10:03:35Z | |
dc.date.available | 2019-07-27T12:10:23Z | |
dc.date.available | 2019-07-28T10:03:35Z | |
dc.date.issued | 2012 | |
dc.identifier.issn | 0001-6268 | |
dc.identifier.uri | https://dx.doi.org/10.1007/s00701-012-1312-6 | |
dc.identifier.uri | https://hdl.handle.net/20.500.12418/9085 | |
dc.description | WOS: 000305677700028 | en_US |
dc.description | PubMed ID: 22389037 | en_US |
dc.description.abstract | Arachnoid cysts are congenital fluid-filled compartments within the cerebrospinal fluid cisterns and cerebral fissures. They most commonly occur sporadically, and familial occurrence has rarely been reported. In this study, we showed the first genetic linkage in the literature in a pure intracranial arachnoid cyst family with autosomal recessive trait. We identified an intracranial arachnoid cyst family in southern Turkey whose six of seven offspring had intracranial arachnoid cysts in different localizations, and collected venous blood from seven offspring of the family. Whole-genome linkage analysis was performed in all offspring. A theorical maximum logarithm of the odds score of 4.6 was identified at chromosome 6q22.31-23.2. This result shows strong genetic linkage to this locus. We present the first genetic linkage analysis result in a pure intracranial arachnoid cyst family in literature. Further investigation of this linkage area can reveal a causative gene causing the intracranial arachnoid cyst phenotype and can illuminate the pathogenesis of this disease. | en_US |
dc.description.sponsorship | Cumhuriyet University [T-455] | en_US |
dc.description.sponsorship | This work was supported by the Scientific Research Project Fund of Cumhuriyet University under project number T-455. | en_US |
dc.language.iso | eng | en_US |
dc.publisher | SPRINGER WIEN | en_US |
dc.relation.isversionof | 10.1007/s00701-012-1312-6 | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | Intracranial arachnoid cyst | en_US |
dc.subject | Whole-genome linkage analysis | en_US |
dc.subject | Autosomal recessive trait | en_US |
dc.subject | Logarithm of the odds score | en_US |
dc.title | Intracranial arachnoid cyst family with autosomal recessive trait mapped to chromosome 6q22.31-23.2 | en_US |
dc.type | article | en_US |
dc.relation.journal | ACTA NEUROCHIRURGICA | en_US |
dc.contributor.department | [Bayrakli, Fatih -- Kars, Hamit Zafer] Cumhuriyet Univ, Sch Med, Dept Neurosurg, TR-58140 Merkez, Sivas, Turkey -- [Okten, Ali Ihsan -- Menekse, Guner -- Guzel, Aslan] Adana Numune Res & Educ Hosp, Dept Neurosurg, Adana, Turkey -- [Kartal, Ugur -- Pinarbasi, Ergun] Cumhuriyet Univ, Sch Med, Dept Med Biol, TR-58140 Merkez, Sivas, Turkey -- [Oztoprak, Ibrahim] Cumhuriyet Univ, Sch Med, Dept Radiol, TR-58140 Merkez, Sivas, Turkey | en_US |
dc.identifier.volume | 154 | en_US |
dc.identifier.issue | 7 | en_US |
dc.identifier.endpage | 1292 | en_US |
dc.identifier.startpage | 1287 | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |