Vaš brskalnik ne omogoča JavaScript!
JavaScript je nujen za pravilno delovanje teh spletnih strani. Omogočite JavaScript ali pa uporabite sodobnejši brskalnik.
Nacionalni portal odprte znanosti
Odprta znanost
DiKUL
slv
|
eng
Iskanje
Brskanje
Novo v RUL
Kaj je RUL
V številkah
Pomoč
Prijava
Variants in the circadian clock genes PER2 and PER3 associate with familial sleep phase disorders
ID
Plavc, Laura
(
Avtor
),
ID
Skubic, Cene
(
Avtor
),
ID
Dolenc-Grošelj, Leja
(
Avtor
),
ID
Rozman, Damjana
(
Avtor
)
PDF - Predstavitvena datoteka,
prenos
(2,15 MB)
MD5: EA915F3D71589B88567C2CD100B312FB
URL - Izvorni URL, za dostop obiščite
https://www.tandfonline.com/doi/full/10.1080/07420528.2024.2348016
Galerija slik
Izvleček
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.
Jezik:
Angleški jezik
Ključne besede:
circadian clock
,
genetics
,
PER2
,
sleep phase disorders
,
genotyping
,
PER3
Vrsta gradiva:
Članek v reviji
Tipologija:
1.01 - Izvirni znanstveni članek
Organizacija:
MF - Medicinska fakulteta
Status publikacije:
Objavljeno
Različica publikacije:
Objavljena publikacija
Leto izida:
2024
Št. strani:
Str. 757-766
Številčenje:
Vol. 41, iss. 5
PID:
20.500.12556/RUL-158206
UDK:
616.8
ISSN pri članku:
0742-0528
DOI:
10.1080/07420528.2024.2348016
COBISS.SI-ID:
196658691
Datum objave v RUL:
29.05.2024
Število ogledov:
247
Število prenosov:
60
Metapodatki:
Citiraj gradivo
Navadno besedilo
BibTeX
EndNote XML
EndNote/Refer
RIS
ABNT
ACM Ref
AMA
APA
Chicago 17th Author-Date
Harvard
IEEE
ISO 690
MLA
Vancouver
:
Kopiraj citat
Objavi na:
Gradivo je del revije
Naslov:
Chronobiology international
Skrajšan naslov:
Chronobiol. int.
Založnik:
Taylor & Francis
ISSN:
0742-0528
COBISS.SI-ID:
27499264
Licence
Licenca:
CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
Povezava:
http://creativecommons.org/licenses/by/4.0/deed.sl
Opis:
To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.
Projekti
Financer:
ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
Številka projekta:
P3-0338
Naslov:
Fiziološki mehanizmi nevroloških motenj in bolezni
Financer:
ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
Številka projekta:
P1-0390
Naslov:
Funkcijska genomika in biotehnologija za zdravje
Financer:
ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
Številka projekta:
I0-0022
Naslov:
Mreža raziskovalnih infrastrukturnih centrov Univerze v Ljubljani (MRIC UL)
Podobna dela
Podobna dela v RUL:
Podobna dela v drugih slovenskih zbirkah:
Nazaj