相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Genetic Modifiers of Cystic Fibrosis Lung Disease Severity
Yi-Hui Zhou et al.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2023)
RoPE: A robust profile likelihood method for differential gene expression analysis
Lehang Zhong et al.
GENETIC EPIDEMIOLOGY (2023)
Bicarbonate Transport in Cystic Fibrosis and Pancreatitis
Dora Angyal et al.
CELLS (2022)
Cross-talk between enhancers, structural elements and activating transcription factors maintains the 3D architecture and expression of the CFTR gene
Shiyi Yin et al.
GENOMICS (2022)
SLC6A14 Impacts Cystic Fibrosis Lung Disease Severity via mTOR and Epithelial Repair Modulation
Julia Mercier et al.
FRONTIERS IN MOLECULAR BIOSCIENCES (2022)
Current challenges in understanding the role of enhancers in disease
Judith Barbara Zaugg et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2022)
Enhancer RNAs step forward: new insights into enhancer function
Laura J. Harrison et al.
DEVELOPMENT (2022)
Genetics of the congenital absence of the vas deferens
Eric Bieth et al.
HUMAN GENETICS (2021)
Secretory Cells Dominate Airway CFTR Expression and Function in Human Airway Superficial Epithelia
Kenichi Okuda et al.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2021)
BACH1, the master regulator of oxidative stress, has a dual effect on CFTR expression
Monali NandyMazumdar et al.
BIOCHEMICAL JOURNAL (2021)
The Bromodomain Containing 8 (BRD8) transcriptional network in human lung epithelial cells
James A. Browne et al.
MOLECULAR AND CELLULAR ENDOCRINOLOGY (2021)
CFTR Cooperative Cis-Regulatory Elements in Intestinal Cells
Megane Collobert et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)
Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern Medicine
Lacramioara Ionela Butnariu et al.
JOURNAL OF CLINICAL MEDICINE (2021)
The Interplay between the Unfolded Protein Response, Inflammation and Infection in Cystic Fibrosis
Pascal Trouve et al.
CELLS (2021)
The influence of CFTR complex alleles on precision therapy of cystic fibrosis
Benoit Chevalier et al.
JOURNAL OF CYSTIC FIBROSIS (2020)
Towards a comprehensive catalogue of validated and target-linked human enhancers
Molly Gasperini et al.
NATURE REVIEWS GENETICS (2020)
Looping of upstream cis-regulatory elements is required for CFTR expression in human airway epithelial cells
Monali NandyMazumdar et al.
NUCLEIC ACIDS RESEARCH (2020)
Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci
Jiafen Gong et al.
PLOS GENETICS (2019)
Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools
Stephanie Villa-Nova Pereira et al.
SCIENTIFIC REPORTS (2019)
Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients
Jenny L. Kerschner et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2019)
A transcription factor network represses CFTR gene expression in airway epithelial cells
Michael J. Mutolo et al.
BIOCHEMICAL JOURNAL (2018)
Non-coding RNA in cystic fibrosis
Arlene M. A. Glasgow et al.
BIOCHEMICAL SOCIETY TRANSACTIONS (2018)
Gq activity- and β-arrestin-1 scaffolding mediated ADGRG2/CFTR coupling are required for male fertility
Dao-Lai Zhang et al.
ELIFE (2018)
Integrative analysis of the cancer genome atlas and cancer cell lines encyclopedia large-scale genomic databases: MUC4/MUC16/MUC20 signature is associated with poor survival in human carcinomas
Nicolas Jonckheere et al.
JOURNAL OF TRANSLATIONAL MEDICINE (2018)
Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis
Valentina Maria Sofia et al.
MOLECULAR MEDICINE (2018)
A single-cell atlas of the airway epithelium reveals the CFTR-rich pulmonary ionocyte
Lindsey W. Plasschaert et al.
NATURE (2018)
A revised airway epithelial hierarchy includes CFTR-expressing ionocytes
Daniel T. Montoro et al.
NATURE (2018)
VX-445-Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis and One or Two Phe508del Alleles
Dominic Keating et al.
NEW ENGLAND JOURNAL OF MEDICINE (2018)
VX-659-Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis and One or Two Phe508del Alleles
J. C. Davies et al.
NEW ENGLAND JOURNAL OF MEDICINE (2018)
Cystic fibrosis: a clinical view
Carlo Castellani et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2017)
Ets homologous factor (EHF) has critical roles in epithelial dysfunction in airway disease
Sara L. Fossum et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2017)
Loss of SLC9A3 decreases CFTR protein and causes obstructed azoospermia in mice
Ya-Yun Wang et al.
PLOS GENETICS (2017)
Bronchial Epithelial Cells from Cystic Fibrosis Patients Express a Specific Long Non-coding RNA Signature upon Pseudomonas aeruginosa Infection
Viviane Balloy et al.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY (2017)
In silico search for modifier genes associated with pancreatic and liver disease in Cystic Fibrosis
Pascal Trouve et al.
PLOS ONE (2017)
Analysis of long-range interactions in primary human cells identifies cooperative CFTR regulatory elements
Stephanie Moisan et al.
NUCLEIC ACIDS RESEARCH (2016)
Differential contribution of cis-regulatory elements to higher order chromatin structure and expression of the CFTR locus
Rui Yang et al.
NUCLEIC ACIDS RESEARCH (2016)
Invariant TAD Boundaries Constrain Cell-Type-Specific Looping Interactions between Promoters and Distal Elements around the CFTR Locus
Emily M. Smith et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
HNF1 regulates critical processes in the human epididymis epithelium
James A. Browne et al.
MOLECULAR AND CELLULAR ENDOCRINOLOGY (2016)
Long Non-coding RNA BGas Regulates the Cystic Fibrosis Transmembrane Conductance Regulator
Sheena M. Saayman et al.
MOLECULAR THERAPY (2016)
Progress in therapies for cystic fibrosis
Kris De Boeck et al.
LANCET RESPIRATORY MEDICINE (2016)
Oxidative Stress Regulates CFTR Gene Expression in Human Airway Epithelial Cells through a Distal Antioxidant Response Element
Zhaolin Zhang et al.
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY (2015)
CHD6 regulates the topological arrangement of the CFTR locus
Ana Sancho et al.
HUMAN MOLECULAR GENETICS (2015)
Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis
Harriet Corvol et al.
NATURE COMMUNICATIONS (2015)
Transcription factors and miRNAs that regulate fetal to adult CFTR expression change are new targets for cystic fibrosis
Victoria Viart et al.
EUROPEAN RESPIRATORY JOURNAL (2015)
Chromatin remodeling mediated by the FOXA1/A2 transcription factors activates CFTR expression in intestinal epithelial cells
Jenny L. Kerschner et al.
EPIGENETICS (2014)
Long noncoding RNA are aberrantly expressed in vivo in the cystic fibrosis bronchial epithelium
Paul J. McKiernan et al.
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2014)
Heterogeneous spectrum of mutations in CFTR gene from Indian patients with congenital absence of the vas deferens and their association with cystic fibrosis genetic modifiers
H. Sharma et al.
MOLECULAR HUMAN REPRODUCTION (2014)
Architectural proteins CTCF and cohesin have distinct roles in modulating the higher order structure and expression of the CFTR locus
Nehal Gosalia et al.
NUCLEIC ACIDS RESEARCH (2014)
Transforming growth factor-β1 impairs CFTR-mediated anion secretion across cultured porcine vas deferens epithelial monolayer via the p38 MAPK pathway
Sheng Yi et al.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY (2013)
Post-Transcriptional Regulation of Cystic Fibrosis Transmembrane Conductance Regulator Expression and Function by MicroRNAs
Shyam Ramachandran et al.
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY (2013)
A Genome-Wide Analysis of Open Chromatin in Human Epididymis Epithelial Cells Reveals Candidate Regulatory Elements for Genes Coordinating Epididymal Function
Jared M. Bischof et al.
BIOLOGY OF REPRODUCTION (2013)
Immune Mediators Regulate CFTR Expression through a Bifunctional Airway-Selective Enhancer
Zhaolin Zhang et al.
MOLECULAR AND CELLULAR BIOLOGY (2013)
Nucleosome mapping across the CFTR locus identifies novel regulatory factors
Erbay Yigit et al.
NUCLEIC ACIDS RESEARCH (2013)
Molecular mechanisms controlling CFTR gene expression in the airway
Zhaolin Zhang et al.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2012)
An integrated encyclopedia of DNA elements in the human genome
Ian Dunham et al.
NATURE (2012)
Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis
Lei Sun et al.
NATURE GENETICS (2012)
microRNA regulation of expression of the cystic fibrosis transmembrane conductance regulator gene
Austin E. Gillen et al.
BIOCHEMICAL JOURNAL (2011)
Recommendations for the classification of diseases as CFTR-related disorders
C. Bombieri et al.
JOURNAL OF CYSTIC FIBROSIS (2011)
Modulatory Effect of the SLC9A3 Gene on Susceptibility to Infections and Pulmonary Function in Children With Cystic Fibrosis
Ruslan Dorfman et al.
PEDIATRIC PULMONOLOGY (2011)
Pancreatitis-associated chymotrypsinogen C (CTRC) mutant elicits endoplasmic reticulum stress in pancreatic acinar cells
Richard Szmola et al.
GUT (2010)
Interaction of intestinal and pancreatic transcription factors in the regulation of CFTR gene expression
Victoria A. McCarthy et al.
BIOCHIMICA ET BIOPHYSICA ACTA-GENE REGULATORY MECHANISMS (2009)
Hypoxia inducible factor-1 (HIF-1)-mediated repression of cystic fibrosis transmembrane conductance regulator (CFTR) in the intestinal epithelium
Wen Zheng et al.
FASEB JOURNAL (2009)
A complex intronic enhancer regulates expression of the CFTR gene by direct interaction with the promoter
Christopher J. Ott et al.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2009)
An insulator element 3 to the CFTR gene binds CTCF and reveals an active chromatin hub in primary cells
Neil P. Blackledge et al.
NUCLEIC ACIDS RESEARCH (2009)
Intronic enhancers coordinate epithelial-specific looping of the active CFTR locus
Christopher J. Ott et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
The epigenetic signature of CFTR expression is co-ordinated via chromatin acetylation through a complex intronic element
Thankam Paul et al.
BIOCHEMICAL JOURNAL (2007)
CTCF mediates insulator function at the CFTR locus
Neil P. Blackledge et al.
BIOCHEMICAL JOURNAL (2007)
A mammalian microRNA expression atlas based on small RNA library sequencing
Pablo Landgraf et al.
CELL (2007)
Cystic fibrosis transmembrane conductance regulator is vital to sperm fertilizing capacity and male fertility
Wen Ming Xu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
HNF1α is involved in tissue-specific regulation of CFTR gene expression
N Mouchel et al.
BIOCHEMICAL JOURNAL (2004)
A novel mutation of the calcium sensing receptor gene is associated with chronic pancreatitis in a family with heterozygous SPINK1 mutations -: art. no. 34
P Felderbauer et al.
BMC GASTROENTEROLOGY (2003)
DNA polymorphisms in potential regulatory elements of the CFTR gene alter transcription factor binding
R Rowntree et al.
HUMAN GENETICS (2002)
Evaluation of potential regulatory elements identified as DNase I hypersensitive sites in the CFTR gene
M Phylactides et al.
EUROPEAN JOURNAL OF BIOCHEMISTRY (2002)
An element in intron 1 of the CFTR gene augments intestinal expression in vivo
RK Rowntree et al.
HUMAN MOLECULAR GENETICS (2001)
NF-κB mediates up-regulation of CFTR gene expression in Calu-3 cells by interleukin-1β
F Brouillard et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Multiple potential Intragenic regulatory elements in the CFTR gene
DJ Smith et al.
GENOMICS (2000)