The ΔF508 mutation causes CFTR misprocessing and cystic fibrosis-like disease in pigs (Q35056880)

6 August 2017

The ΔF508 mutation causes CFTR misprocessing and cystic fibrosis-like disease in pigs (English)

1 reference

6 August 2017

0 references

Leah R Reznikov

9

0 references

Alejandro A Pezzulo

Alejandro A Pezzulo

4

0 references

Lynda S Ostedgaard

Lynda S Ostedgaard

1

0 references

Joel Shilyansky

Joel Shilyansky

23

0 references

David Stoltz

David A Stoltz

28

0 references

David Meyerholz

David K Meyerholz

2

0 references

Paul B McCray

Paul B McCray

25

0 references

Randall S. Prather

Randall S Prather

24

0 references

Aliye Uc

Aliye Uc

22

0 references

Joseph Zabner

Joseph Zabner

26

0 references

author name string

Jeng-Haur Chen

3

1 reference

6 August 2017

Philip H Karp

5

1 reference

6 August 2017

Tatiana Rokhlina

6

1 reference

6 August 2017

Sarah E Ernst

7

1 reference

6 August 2017

Robert A Hanfland

8

1 reference

6 August 2017

Paula S Ludwig

10

1 reference

6 August 2017

Mark P Rogan

11

1 reference

6 August 2017

Greg J Davis

12

1 reference

6 August 2017

Cassie L Dohrn

13

1 reference

6 August 2017

Christine Wohlford-Lenane

14

1 reference

6 August 2017

Peter J Taft

15

1 reference

6 August 2017

Michael V Rector

16

1 reference

6 August 2017

Emma Hornick

17

1 reference

6 August 2017

Boulos S Nassar

18

1 reference

6 August 2017

Melissa Samuel

19

1 reference

6 August 2017

Yuping Zhang

20

1 reference

6 August 2017

Sandra S Richter

21

1 reference

6 August 2017

Michael J Welsh

27

1 reference

6 August 2017

language of work or name

English

0 references

publication date

1 March 2011

1 reference

Science Translational Medicine

6 August 2017

1 reference

6 August 2017

3

1 reference

6 August 2017

74ra24

1 reference

6 August 2017

74

1 reference

Loss of anion transport without increased sodium absorption characterizes newborn porcine cystic fibrosis airway epithelia

6 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Disease phenotype of a ferret CFTR-knockout model of cystic fibrosis.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Loss of cystic fibrosis transmembrane conductance regulator function produces abnormalities in tracheal development in neonatal pigs and young children

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Peripheral protein quality control removes unfolded CFTR from the plasma membrane

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Cystic fibrosis pigs develop lung disease and exhibit defective bacterial eradication at birth

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Pathology of gastrointestinal organs in a porcine model of cystic fibrosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Cystic fibrosis transmembrane regulator inhibitors CFTR(inh)-172 and GlyH-101 target mitochondrial functions, independently of chloride channel inhibition

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Functional stability of rescued delta F508 cystic fibrosis transmembrane conductance regulator in airway epithelial cells.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Disruption of the CFTR gene produces a model of cystic fibrosis in newborn pigs

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

TMEM16A, a membrane protein associated with calcium-dependent chloride channel activity

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Cystic fibrosis: impaired bicarbonate secretion and mucoviscidosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Activation of the unfolded protein response by deltaF508 CFTR.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Production of CFTR-null and CFTR-DeltaF508 heterozygous pigs by adeno-associated virus-mediated gene targeting and somatic cell nuclear transfer

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Processing and function of CFTR-DeltaF508 are species-dependent

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Effects of cystic fibrosis transmembrane conductance regulator and DeltaF508CFTR on inflammatory response, ER stress, and Ca2+ of airway epithelia.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Sequential quality-control checkpoints triage misfolded cystic fibrosis transmembrane conductance regulator

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Rescue of DeltaF508-CFTR trafficking and gating in human cystic fibrosis airway primary cultures by small molecules

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Small-molecule correctors of defective DeltaF508-CFTR cellular processing identified by high-throughput screening.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Gene transfer of CFTR to airway epithelia: low levels of expression are sufficient to correct Cl- transport and overexpression can generate basolateral CFTR.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Discovery of glycine hydrazide pore-occluding CFTR inhibitors: mechanism, structure-activity analysis, and in vivo efficacy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Efficient intracellular processing of the endogenous cystic fibrosis transmembrane conductance regulator in epithelial cell lines

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Cystic fibrosis F508del patients have apically localized CFTR in a reduced number of airway cells.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Deletion of phenylalanine 508 causes attenuated phosphorylation-dependent activation of CFTR chloride channels

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Rescue of dysfunctional deltaF508-CFTR chloride channel activity by IBMX.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

DeltaF508 CFTR protein expression in tissues from patients with cystic fibrosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Pathophysiology of gene-targeted mouse models for cystic fibrosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Structure and function of the CFTR chloride channel

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Delta F508-CFTR channels: kinetics, activation by forskolin, and potentiation by xanthines

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

A demonstration using mouse models that successful gene therapy for cystic fibrosis requires only partial gene correction.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

CFTR and differentiation markers expression in non-CF and delta F 508 homozygous CF nasal epithelium

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Bicarbonate conductance and pH regulatory capability of cystic fibrosis transmembrane conductance regulator

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Chloride Conductance Expressed by ΔF508 and Other Mutant CFTRs In Xenopus Oocytes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manif

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

cAMP stimulates bicarbonate secretion across normal, but not cystic fibrosis airway epithelia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Efficiency of gene transfer for restoration of normal airway epithelial function in cystic fibrosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Functional analysis of F508del CFTR in native human colon

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Congenital tracheal malformation in cystic fibrosis transmembrane conductance regulator-deficient mice.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Characterization of wild-type and deltaF508 cystic fibrosis transmembrane regulator in human respiratory epithelia

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Normal function of the cystic fibrosis conductance regulator protein can be associated with homozygous (Delta)F508 mutation

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Intracellular turnover of cystic fibrosis transmembrane conductance regulator. Inefficient processing and rapid degradation of wild-type and mutant proteins.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119077

Edge damage effect on electrical measurements of frog skin

25 October 2018

1 reference

12 December 2020

Mislocalization of ΔF508 CFTR in cystic fibrosis sweat gland

1 reference

12 December 2020

Submucosal glands are the predominant site of CFTR expression in the human bronchus

1 reference

12 December 2020

Correlation between nasal potential difference measurements, genotype and clinical condition in patients with cystic fibrosis

1 reference

12 December 2020

Pathology of pancreatic and intestinal disorders in cystic fibrosis

1 reference

12 December 2020

10.1126/SCITRANSLMED.3001868

Identifiers

DOI

1 reference

6 August 2017

1 reference

6 August 2017

1 reference