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Ann Harris
Case Western Reserve University
GeneMolecular biologyCystic fibrosis transmembrane conductance regulatorGeneticsBiology
94Publications
24H-index
1,923Citations
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Publications 97
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#1Alekh Paranjapye (Case Western Reserve University)
#2Manon Ruffin (University of Paris)H-Index: 3
Last. Harriet Corvol (University of Paris)H-Index: 25
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Abstract In patients with cystic fibrosis (CF), genetic variants within and outside the CFTR locus contribute to the variability of the disease severity. CFTR transcription is tightly regulated by cis-regulatory elements (CREs) that control the three-dimensional structure of the locus, chromatin accessibility and transcription factor recruitment. Variants within these CREs may contribute to the pathophysiology and to the phenotypic heterogeneity by altering CFTR transcript abundance. In addition...
2 CitationsSource
#1Monali NandyMazumdar (Case Western Reserve University)
#2Shiyi Yin (Case Western Reserve University)H-Index: 1
Last. Ann Harris (Case Western Reserve University)H-Index: 24
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#1I. Viotti Perisse (USU: Utah State University)
#2Zhiqiang Fan (USU: Utah State University)H-Index: 3
Last. Irina A. Polejaeva (USU: Utah State University)H-Index: 15
view all 7 authors...
Cystic fibrosis (CF) is an autosomal recessive genetic disease that affects over 30 000 people in the United States and is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The CFTR protein is a cAMP-regulated C− channel responsible for regulation of anion transport, primarily in the epithelial cells. We have previously generated a sheep model of CF by genetically inactivating the CFTR gene (Fan et al. 2018 JCI Insight 3, e123529). The newborn CFTR −/− s...
1 CitationsSource
#1Lara R. Gawenis (MU: University of Missouri)H-Index: 24
#2Craig A. Hodges (Case Western Reserve University)H-Index: 19
Last. Lane L. Clarke (MU: University of Missouri)H-Index: 38
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Small-molecule modulators of cystic fibrosis transmembrane conductance regulator (CFTR) biology show promise in the treatment of cystic fibrosis (CF). A Cftr knockout (Cftr KO) mouse expressing mutants of human CFTR would advance in vivo testing of new modulators. A bacterial artificial chromosome (BAC) carrying the complete hCFTR gene including regulatory elements within 40.1 kb of DNA 5′ and 25 kb of DNA 3′ to the gene was used to generate founder mice expressing hCFTR. Whole genome sequencing...
Source
#1Hannah Swahn (Case Western Reserve University)
#2Jey Sabith Ebron (Case Western Reserve University)
Last. Ann Harris (Case Western Reserve University)H-Index: 24
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E74‐like factor 5 (ELF5) and ETS‐homologous factor (EHF) are epithelial selective ETS family transcription factors (TFs) encoded by genes at chr11p13, a region associated with cystic fibrosis (CF) lung disease severity. EHF controls many key processes in lung epithelial function so its regulatory mechanisms are important. Using CRISPR/Cas9 technology, we removed three key cis‐regulatory elements (CREs) from the chr11p13 region and also activated multiple open chromatin sites with CRISPRa in airw...
Source
The cystic fibrosis transmembrane conductance regulator (CFTR) gene is an attractive target for gene editing approaches, which may yield novel therapeutic approaches for genetic diseases such as cystic fibrosis (CF). However, for gene editing to be effective, aspects of the three-dimensional (3D) structure and cis-regulatory elements governing the dynamic expression of CFTR need to be considered. In this review, we focus on the higher order chromatin organization required for normal CFTR locus f...
Source
#1Jenny L. Kerschner (Case Western Reserve University)
#2Sujana Ghosh (NU: Northwestern University)H-Index: 2
Last. Ann Harris (Case Western Reserve University)H-Index: 24
view all 10 authors...
It is estimated that up to 5% of cystic fibrosis transmembrane conductance regulator (CFTR) pathogenic alleles are unidentified. Some of these errors may lie in noncoding regions of the locus and affect gene expression. To identify regulatory element variants in the CFTR locus, SureSelect targeted enrichment of 460 kb encompassing the gene was optimized to deep sequence genomic DNA from 80 CF patients with an unequivocal clinical diagnosis but only one or no CFTR-coding region pathogenic variant...
Source
#1I. Viotti Perisse (USU: Utah State University)
#2Zhiqiang Fan (USU: Utah State University)H-Index: 3
Last. Irina A. Polejaeva (USU: Utah State University)H-Index: 15
view all 9 authors...
Cystic fibrosis (CF) is a human autosomal genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which is responsible for Cl − anion transport in epithelial cells. We previously generated CFTR +/− and CFTR −/− lambs using CRISPR/Cas9 and somatic cell nuclear transfer (SCNT) techniques. The CFTR −/− lambs display many features similar to humans with CF, including meconium ileus (MI), pancreatic fibrosis, portal fibrosis and biliary hyperplasia,...
Source
#1Zhiqiang FanH-Index: 3
Last. Irina A. PolejaevaH-Index: 15
view all 11 authors...
5 CitationsSource
#1Rui Yang (NU: Northwestern University)H-Index: 6
#2James A. Browne (Case Western Reserve University)H-Index: 7
Last. Ann HarrisH-Index: 24
view all 5 authors...
3 CitationsSource
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