(Q34205956)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22438829%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

title

Variation in MSRA modifies risk of neonatal intestinal obstruction in cystic fibrosis (English)

1 reference

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26 January 2020

0 references

3

1 reference

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26 January 2020

author name string

Lindsay B Henderson

1

1 reference

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26 January 2020

Vishal K Doshi

2

1 reference

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26 January 2020

Kathleen M Naughton

4

1 reference

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26 January 2020

Rhonda G Pace

5

1 reference

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26 January 2020

Jackob Moskovitz

6

1 reference

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26 January 2020

Michael R Knowles

7

1 reference

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26 January 2020

Peter R Durie

8

1 reference

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26 January 2020

Mitchell L Drumm

9

1 reference

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26 January 2020

Garry R Cutting

10

1 reference

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26 January 2020

language of work or name

1 reference

15 March 2012

1 reference

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26 January 2020

1 reference

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26 January 2020

volume

8

1 reference

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26 January 2020

issue

3

1 reference

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26 January 2020

page(s)

e1002580

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Creative Commons Attribution 4.0 International

26 January 2020

copyright license

start time

15 March 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association

1 reference

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Guidelines for the diagnosis and management of distal intestinal obstruction syndrome in cystic fibrosis patients

5 July 2018

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Mouse models of cystic fibrosis: phenotypic analysis and research applications

5 July 2018

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Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.

5 July 2018

1 reference

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Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation

5 July 2018

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

5 July 2018

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Pathology of gastrointestinal organs in a porcine model of cystic fibrosis

5 July 2018

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Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results

5 July 2018

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Failure to replicate a genetic association may provide important clues about genetic architecture

5 July 2018

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Reduced NHE3-mediated Na+ absorption increases survival and decreases the incidence of intestinal obstructions in cystic fibrosis mice

5 July 2018

1 reference

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Generation of a conditional null allele for Cftr in mice

5 July 2018

1 reference

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Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis

5 July 2018

1 reference

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Substrates of the methionine sulfoxide reductase system and their physiological relevance

5 July 2018

1 reference

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Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3305406

Potential genetic modifiers of the cystic fibrosis intestinal inflammatory phenotype on mouse chromosomes 1, 9, and 10

5 July 2018

1 reference

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Methionine sulfoxide reductases: history and cellular role in protecting against oxidative damage

5 July 2018

1 reference

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Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

5 July 2018

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Haploview: analysis and visualization of LD and haplotype maps

5 July 2018

1 reference

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Advanced methods in meta-analysis: multivariate approach and meta-regression.

5 July 2018

1 reference

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Methionine sulfoxide reductase (MsrA) is a regulator of antioxidant defense and lifespan in mammals

5 July 2018

1 reference

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A note on robust variance estimation for cluster-correlated data

5 July 2018

1 reference

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Enhancing the efficiency of introducing precise mutations into the mouse genome by hit and run gene targeting

5 July 2018

1 reference

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Molecular cloning and functional expression of a human peptide methionine sulfoxide reductase (hMsrA)

5 July 2018

1 reference

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Pathophysiology of gene-targeted mouse models for cystic fibrosis

5 July 2018

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Cystic fibrosis mice lacking Muc1 have reduced amounts of intestinal mucus

5 July 2018

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The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel

5 July 2018

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Cloning the expression of a mammalian gene involved in the reduction of methionine sulfoxide residues in proteins

5 July 2018

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Chromosomal localization of the mammalian peptide-methionine sulfoxide reductase gene and its differential expression in various tissues

5 July 2018

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Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations.

5 July 2018

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Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor

5 July 2018

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A mouse model for the cystic fibrosis delta F508 mutation.

5 July 2018

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A review of 164 children with meconium ileus seen at the Children's Hospital Medical Center, Boston

5 July 2018

1 reference

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Protein in meconium from meconium ileus

5 July 2018

1 reference

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Failure to induce secretion in jejunal biopsies from children with cystic fibrosis

5 July 2018

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Altered intestinal chloride transport in cystic fibrosis

5 July 2018

1 reference

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Identification of the cystic fibrosis gene: genetic analysis

5 July 2018

1 reference

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Analysis of DNA polymorphism haplotypes linked to the cystic fibrosis locus in North American black and Caucasian families supports the existence of multiple mutations of the cystic fibrosis gene.

5 July 2018

1 reference

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Cystic fibrosis in the mouse by targeted insertional mutagenesis

5 July 2018

1 reference

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An animal model for cystic fibrosis made by gene targeting

5 July 2018

1 reference

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Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3305406

Genetic determination of exocrine pancreatic function in cystic fibrosis

5 July 2018

1 reference

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Association between initial disease presentation, lung disease outcomes, and survival in patients with cystic fibrosis

5 July 2018

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Familial concordance of phenotype and microbial variation among siblings with CF.

21 January 2018

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Production of a severe cystic fibrosis mutation in mice by gene targeting

21 January 2018

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Defining DIOS and constipation in cystic fibrosis with a multicentre study on the incidence, characteristics, and treatment of DIOS.

21 January 2018

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Generation and characterization of a delta F508 cystic fibrosis mouse model.

21 January 2018

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Long-term survival of the exon 10 insertional cystic fibrosis mutant mouse is a consequence of low level residual wild-type Cftr gene expression

21 January 2018

1 reference

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Role of Cftr genotype in the response to chronic Pseudomonas aeruginosa lung infection in mice

21 January 2018

1 reference

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Mutations in CFTR associated with mild-disease-form Cl- channels with altered pore properties.

21 January 2018

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Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13.

21 January 2018

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A severe phenotype in mice with a duplication of exon 3 in the cystic fibrosis locus.

21 January 2018

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21 January 2018

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21 January 2018

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Transmembrane Mutations Alter the Channel Characteristics of the Cystic Fibrosis Transmembrane Conductance Regulator Expressed in Xenopus Oocytes

21 January 2018

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Long-term pulmonary outcome after meconium ileus in cystic fibrosis

21 January 2018

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12 December 2020

Association of the CLCA1 p.S357N variant with meconium ileus in European patients with cystic fibrosis

1 reference

12 December 2020

The impact of meconium ileus on the clinical course of children with cystic fibrosis

1 reference

12 December 2020

Development and evaluation of a PCR-based, line probe assay for the detection of 58 alleles in the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1 reference

12 December 2020

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12 December 2020

Familial occurrence of meconium ileus

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12 December 2020

Biochemical analysis of meconium in fetuses presumed to have cystic fibrosis

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12 December 2020

Protease inhibitor and defective proteolysis in cystic fibrosis

1 reference

12 December 2020

Clinical and genetic comparisons of patients with cystic fibrosis, with or without meconium ileus

1 reference

12 December 2020

Correlation between genotype and phenotype in patients with cystic fibrosis

1 reference

12 December 2020

Genetic comparisons of patients with cystic fibrosis with or without meconium ileus. Clinical Centers of the French CF Registry

1 reference

12 December 2020

Studies in cystic fibrosis of the pancreas; protein pattern in meconium ileus

1 reference

12 December 2020

Amelioration of cystic fibrosis intestinal mucous disease in mice by restoration of mCLCA3

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12 December 2020

10.1371/JOURNAL.PGEN.1002580

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22438829%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22438829%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

PubMed publication ID

22438829

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22438829%20AND%20SRC:MED&resulttype=core&format=json