Sökning: onr:"swepub:oai:prod.swepub.kib.ki.se:137049553" >
Hypomethylation of ...
Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children
-
Muurinen, M (författare)
-
Hannula-Jouppi, K (författare)
-
Reinius, LE (författare)
-
visa fler...
-
- Soderhall, C (författare)
- Karolinska Institutet
-
Merid, K (författare)
-
- Bergstrom, A (författare)
- Karolinska Institutet
-
- Melen, E (författare)
- Karolinska Institutet
-
- Pershagen, G (författare)
- Karolinska Institutet
-
Lipsanen-Nyman, M (författare)
-
Greco, D (författare)
-
- Kere, J (författare)
- Karolinska Institutet
-
visa färre...
-
(creator_code:org_t)
- 2017-11-16
- 2017
- Engelska.
-
Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 7:1, s. 15693-
- Relaterad länk:
-
https://www.nature.c...
-
visa fler...
-
http://kipublication...
-
https://doi.org/10.1...
-
visa färre...
Abstract
Ämnesord
Stäng
- Silver-Russell syndrome (SRS) is a growth retardation syndrome in which loss of methylation on chromosome 11p15 (11p15 LOM) and maternal uniparental disomy for chromosome 7 [UPD(7)mat] explain 20–60% and 10% of the syndrome, respectively. To search for a molecular cause for the remaining SRS cases, and to find a possible common epigenetic change, we studied DNA methylation pattern of more than 450 000 CpG sites in 44 SRS patients. Common to all three SRS subgroups, we found a hypomethylated region at the promoter region of HOXA4 in 55% of the patients. We then tested 39 patients with severe growth restriction of unknown etiology, and found hypomethylation of HOXA4 in 44% of the patients. Finally, we found that methylation at multiple CpG sites in the HOXA4 promoter region was associated with height in a cohort of 227 healthy children, suggesting that HOXA4 may play a role in regulating human growth by epigenetic mechanisms.
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
Till lärosätets databas
- Av författaren/redakt...
-
Muurinen, M
-
Hannula-Jouppi, ...
-
Reinius, LE
-
Soderhall, C
-
Merid, K
-
Bergstrom, A
-
visa fler...
-
Melen, E
-
Pershagen, G
-
Lipsanen-Nyman, ...
-
Greco, D
-
Kere, J
-
visa färre...
- Artiklar i publikationen
-
Scientific repor ...
- Av lärosätet
-
Karolinska Institutet