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BMC Genetics|April 23, 2004
Instability of the insertional mutation in CftrTgH(neoim)Hgu cystic fibrosis mouse modelNikoletta Charizopoulou, Silke Jansen, Martina Dorsch, et al.
Molecular Genetics & Genomic Medicine|January 3, 2019
Functional analysis of the p.[Arg74Trp;Val201Met;Asp1270Asn]/p.Phe508del CFTR mutation genotype in human native colonSylvia Schucht, Rebecca Minso, Christiane Lex, et al.
Genes|October 23, 2021
Consistent Assignment of Risk and Benign Allele at rs2303153 in the CF Modifier Gene SCNN1B in Three Independent F508del-CFTR Homozygous Patient PopulationsFrauke Stanke, Tim Becker, Haide Susanne Ismer, et al.
Stem Cell Research|September 26, 2022
Generation of two TMEM16A knockout iPSC clones each from a healthy human iPSC line, from a Cystic Fibrosis patient specific line with p.Phe508del mutation and from the gene corrected iPSC lineMark-Christian Jaboreck, Jonathan Lukas Lühmann, Mia Mielenz, et al.
Biochimica Et Biophysica Acta|August 11, 2010
Functional analysis of F508del CFTR in native human colonAndrea van Barneveld, Frauke Stanke, Stephanie Tamm, et al.
European Journal of Human Genetics : EJHG|April 11, 2013
Clinical and molecular characterization of the potential CF disease modifier syntaxin 1AThomas von Kanel, Frauke Stanke, Melanie Weber, et al.
International Journal of Molecular Sciences|June 27, 2024
Analysis of CFTR mRNA and Protein in Peripheral Blood Mononuclear Cells via Quantitative Real-Time PCR and Western BlotAlexander Schnell, Stephanie Tamm, Silke Hedtfeld, et al.
Human Genetics|October 19, 2004
The CLCA gene locus as a modulator of the gastrointestinal basic defect in cystic fibrosisMargit Ritzka, Frauke Stanke, Silke Jansen, et al.
Scientific Reports|January 1, 2021
Genetic information from discordant sibling pairs points to ESRP2 as a candidate trans-acting regulator of the CF modifier gene SCNN1BTim Becker, Andreas Pich, Stephanie Tamm, et al.
Journal of Personalized Medicine|January 22, 2024
A Fast Scoring of Human Primary Respiratory Epithelia Grown at Air-Liquid Interface (ALI) to Assess Epithelial Morphology in Research and Personalized Medicine SettingsChristopher T Lutsch, Longhua Feng, Ana Gómez Hohn, et al.
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