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Items: 3

1.
Consistent Assignment of Risk and Benign Allele at rs2303153 in the CF Modifier Gene SCNN1B in Three Independent F508del-CFTR Homozygous Patient Populations
Frauke Stanke, Tim Becker, Haide Susanne Ismer, Inga Dunsche, Silke Hedtfeld, Julia Kontsendorn, Anna-Maria Dittrich, Burkhard Tümmler
Genes (Basel) 2021 Oct; 12(10): 1554. Published online 2021 Sep 29. doi: 10.3390/genes12101554
PMCID:
PMC8535344
AbstractArticlePDF–696K
2.
The CF-modifying gene EHF promotes p.Phe508del-CFTR residual function by altering protein glycosylation and trafficking in epithelial cells
Frauke Stanke, Andrea van Barneveld, Silke Hedtfeld, Stefan Wölfl, Tim Becker, Burkhard Tümmler
Eur J Hum Genet. 2014 May; 22(5): 660–666. Published online 2013 Oct 9. doi: 10.1038/ejhg.2013.209
PMCID:
PMC3992571
AbstractArticlePDF–1.4M
3.
Initial interrogation, confirmation and fine mapping of modifying genes: STAT3, IL1B and IFNGR1 determine cystic fibrosis disease manifestation
Heike Labenski, Silke Hedtfeld, Tim Becker, Burkhard Tümmler, Frauke Stanke
Eur J Hum Genet. 2011 Dec; 19(12): 1281–1288. Published online 2011 Jul 6. doi: 10.1038/ejhg.2011.129
PMCID:
PMC3230365
AbstractArticlePDF–718K

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