MF, Centralna medicinska knjižnica, Ljubljana (CMK)
-
Variants in the circadian clock genes PER2 and PER3 associate with familial sleep phase disordersPlavc, Laura ...Delayed sleep phase disorder and advanced sleep phase disorder cause disruption of the circadian clock and present with extreme morning/evening chronotype with unclear role of the genetic etiology, ... especially for delayed sleep phase disorder. To assess if genotyping can aid in clinical diagnosis, we examined the presence of genetic variants in circadian clock genes previously linked to both sleep disorders in Slovenian patient cohort. Based on Morning-evening questionnaire, we found 15 patients with extreme chronotypes, 13 evening and 2 morning, and 28 controls. Sanger sequencing was used to determine the presence of carefully selected candidate SNPs in regions of the CSNK1D, PER2/3 and CRY1 genes. In a patient with an extreme morning chronotype and a family history of circadian sleep disorder we identified two heterozygous missense variants in PER3 gene, c.1243C>G (NM_001377275.1 (p.Pro415Ala)) and c.1250A>G (NM_001377275.1 (p.His417Arg)). The variants were significantly linked to Advanced sleep phase disorder and were also found in proband’s father with extreme morningness. Additionally, a rare SNP was found in PER2 gene in a patient with clinical picture of Delayed sleep phase disorder. The novel variant in PER2 (NM_022817.3):c.1901–218 G>T was found in proband’s parent with eveningness, indicating an autosomal dominant inheritance. We identified a family with autosomal dominant inheritance of two PER3 heterozygous variants that can be linked to Advanced sleep phase disorder. We revealed also a rare hereditary form of Delayed sleep phase disorder with a new PER2 variant with autosomal dominant inheritance, shedding the light into the genetic causality.Vir: Chronobiology international. - ISSN 0742-0528 (Vol. 41, iss. 5, 2024, str. 757-766)Vrsta gradiva - članek, sestavni delLeto - 2024Jezik - angleškiCOBISS.SI-ID - 196658691
Avtor
Plavc, Laura |
Skubic, Cene |
Dolenc-Grošelj, Leja |
Rozman, Damjana, 1960-
Teme
circadian clock |
genetics |
PER2 |
PER3 |
sleep phase disorders |
genotyping |
cirkadiana ura |
genetika |
motnje faze spanja |
genotipizacija
![loading ... loading ...](themes/default/img/ajax-loading.gif)
Vnos na polico
Trajna povezava
- URL:
Faktor vpliva
Dostop do baze podatkov JCR je dovoljen samo uporabnikom iz Slovenije. Vaš trenutni IP-naslov ni na seznamu dovoljenih za dostop, zato je potrebna avtentikacija z ustreznim računom AAI.
Leto | Faktor vpliva | Izdaja | Kategorija | Razvrstitev | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Baze podatkov, v katerih je revija indeksirana
Ime baze podatkov | Področje | Leto |
---|
Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
---|---|
Plavc, Laura | ![]() |
Skubic, Cene | 50455 |
Dolenc-Grošelj, Leja | 15400 |
Rozman, Damjana, 1960- | 06013 |
Vir: Osebne bibliografije
in: SICRIS
Izberite prevzemno mesto:
Prevzem gradiva po pošti
Naslov za dostavo:
Med podatki člana manjka naslov.
Storitev za pridobivanje naslova trenutno ni dostopna, prosimo, poskusite še enkrat.
S klikom na gumb "V redu" boste potrdili zgoraj izbrano prevzemno mesto in dokončali postopek rezervacije.
S klikom na gumb "V redu" boste potrdili zgoraj izbrano prevzemno mesto in naslov za dostavo ter dokončali postopek rezervacije.
S klikom na gumb "V redu" boste potrdili zgoraj izbrani naslov za dostavo in dokončali postopek rezervacije.
Obvestilo
Trenutno je storitev za avtomatsko prijavo in rezervacijo nedostopna. Gradivo lahko rezervirate sami na portalu Biblos ali ponovno poskusite tukaj kasneje.
Gesla v Splošnem geslovniku COBISS
Izbira mesta prevzema
Gradivo iz matične enote je brezplačno. Če je gradivo na mesto prevzema dostavljeno iz drugih enot, lahko knjižnica to storitev zaračuna.
Mesto prevzema | Status gradiva | Rezervacija |
---|
Rezervacija v teku
Prosimo, počakajte trenutek.
Rezervacija je uspela.
Rezervacija ni uspela.
Rezervacija...
Članska izkaznica:
Mesto prevzema:
26.7., 15.8. in 16.8. 2024 bo knjižnica ZAPRTA.