Nature Search

Plasma Immunoreactive Pancreatic Cationic Trypsinogen in Cystic Fibrosis: a Sensitive Indicator of Exocrine Pancreatic Dysfunction

Peter R Durie
Corey Largman
Michael C Geokas
Research01 Oct 1981
Pediatric Research

Volume: 15, P: 1351-1355
Evidence for a Primary Defect of Pancreatic HCO₃⁻ Secretion in Cystic Fibrosis

Kevin J Gaskin
Peter R Durie
Gordon G Forstner
Research01 Jul 1982
Pediatric Research

Volume: 16, P: 554-557
Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor

Richard Rozmahe
Michael Wilschanski
Lap-Chee Tsui
Research01 Mar 1996
Nature Genetics

Volume: 12, P: 280-287
PLASMA BENZOYL-TYROSYL-PABA TEST IN EVALUATING EXOCRINE PANCREATIC FUNCTION IN CF: A PHARMACOKINETIC APPROACH

Gideon Koren
Zvi Weizman
Peter Durie
Research01 Apr 1984
Pediatric Research

Volume: 18, P: 203
GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

An analysis of 24,202 critical cases of COVID-19 identifies potentially druggable targets in inflammatory signalling (JAK1), monocyte–macrophage activation and endothelial permeability (PDE4A), immunometabolism (SLC2A5 and AK5), and host factors required for viral entry and replication (TMPRSS2 and RAB2A).

Erola Pairo-Castineira
Konrad Rawlik
J. Kenneth Baillie
ResearchOpen Access17 May 2023
Nature

Volume: 617, P: 764-768
Reversal of multidrug resistance by surfactants

DM Woodcock
ME Linsenmeyer
WH Sawyer
Research01 Jul 1992
British Journal of Cancer

Volume: 66, P: 62-68
Mapping the human genetic architecture of COVID-19

A global network of researchers was formed to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity; this paper reports 13 genome-wide significant loci and potentially actionable mechanisms in response to infection.

Mari E. K. Niemi
Juha Karjalainen
Chloe Donohue
ResearchOpen Access08 Jul 2021
Nature

Volume: 600, P: 472-477
Whole-genome sequencing reveals host factors underlying critical COVID-19

Whole-genome sequencing, transcriptome-wide association and fine-mapping analyses in over 7,000 individuals with critical COVID-19 are used to identify 16 independent variants that are associated with severe illness in COVID-19.

Athanasios Kousathanas
Erola Pairo-Castineira
J. Kenneth Baillie
ResearchOpen Access07 Mar 2022
Nature

Volume: 607, P: 97-103
A second update on mapping the human genetic architecture of COVID-19

Masahiro Kanai
Shea J. Andrews
Matthew Solomonson
ResearchOpen Access06 Sept 2023
Nature

Volume: 621, P: E7-E26
Levels of expression of the mdr1 gene and glutathione S-transferase genes 2 and 3 and response to chemotherapy in multiple myeloma

ME Linsenmeyer
S Jefferson
DM Woodcock
Research01 Mar 1992
British Journal of Cancer

Volume: 65, P: 471-475
TREATMENT OF DISTAL INTESTINAL OBSTRUCTION SYNDROME (DIOS) IN CYSTIC FIBROSIS (CF) WITH AN INTESTINAL LAVAGE SOLUTION

Sibylle Koletzko
David A Stringer
Peter R Durie
Research01 Apr 1987
Pediatric Research

Volume: 21, P: 271
Genetic mechanisms of critical illness in COVID-19

A genome-wide association study of critically ill patients with COVID-19 identifies genetic signals that relate to important host antiviral defence mechanisms and mediators of inflammatory organ damage that may be targeted by repurposing drug treatments.

Erola Pairo-Castineira
Sara Clohisey
J. Kenneth Baillie
Research11 Dec 2020
Nature

Volume: 591, P: 92-98
Correction: Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

Martin Zenker
Julia Mayerle
André Reis
Amendments and Corrections01 Feb 2006
Nature Genetics

Volume: 38, P: 265
CYCLOSPORIN-INDUCED REMISSION IN SEVERE COLITIS UNRESPONSIVE TO CORTICOSTEROID THERAPY

Barbara S Kirschner
Peter F Whitington
David Bostwick
Research01 Apr 1987
Pediatric Research

Volume: 21, P: 271
Mutations in SBDS are associated with Shwachman–Diamond syndrome

Graeme R.B. Boocock
Jodi A. Morrison
Johanna M. Rommens
Research23 Dec 2002
Nature Genetics

Volume: 33, P: 97-101
Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis

Cystic fibrosis imposes a decline in quality of life but new treatments are being developed that target specificCFTRvariants. Here the authors identify five genome loci significantly associated with variation in disease severity in a meta-analysis, which may provide targets for individualized treatment of cystic fibrosis.

Harriet Corvol
Scott M. Blackman
Michael R. Knowles
ResearchOpen Access29 Sept 2015
Nature Communications

Volume: 6, P: 1-8
Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2

Garry Cutting and colleagues report a genome-wide association and linkage study for loci that affect lung disease severity in cystic fibrosis. They identify two loci that influence lung function in individuals with cystic fibrosis.

Fred A Wright
Lisa J Strug
Garry R Cutting
Research22 May 2011
Nature Genetics

Volume: 43, P: 539-546
542 CIRCULATING IMMUNOREACTIVE PANCREATIC CATIONIC AND ANIONIC TRYPSIN(OGEN) IN PANCREATIC INSUFFICIENCY

Peter R Durie
Corey Largman
J R Hamilton
Research01 Apr 1981
Pediatric Research

Volume: 15, P: 531
Allogeneic transplantation in multiple myeloma: long-term follow-up and cytogenetic subgroup analysis

Stefan Knop
Monika Engelhardt
M. Svaldi
Research28 Aug 2019
Leukemia

Volume: 33, P: 2710-2719
Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

Erola Pairo-Castineira
Konrad Rawlik
J. Kenneth Baillie
Amendments and CorrectionsOpen Access11 Jul 2023
Nature

Volume: 619, P: E61
USE OF ¹³C-GLUCOSE BREATH TESTS IN THE CHARACTERIZATION OF ABSORPTION OF CARBOHYDRATE IN FORMULA BY INFANTS WITH DIARRHEA

Carlos H Lifschitz
Charles S Irving
Buford L Nichols
Research01 Apr 1984
Pediatric Research

Volume: 18, P: 204
Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene

Maja Popovic
Sharan Goobie
Johanna M Rommens
Research24 May 2002
European Journal of Human Genetics

Volume: 10, P: 250-258
Cell-free DNA chromosome copy number variations predict outcomes in plasma cell myeloma

Wanting Qiang
Lina Jin
Juan Du
CorrespondenceOpen Access05 Sept 2023
Blood Cancer Journal

Volume: 13, P: 1-4
Distribution of CFTR mutations in Saguenay– Lac-Saint-Jean: proposal of a panel of mutations for population screening

Anne-Marie Madore
Claude Prévost
Catherine Laprise
Research01 Mar 2008
Genetics in Medicine

Volume: 10, P: 201-206
High-throughput electron tomography identifies centriole over-elongation as an early event in plasma cell disorders

Sebastian Köhrer
Tobias Dittrich
Alwin Krämer
ResearchOpen Access11 Oct 2023
Leukemia

Volume: 37, P: 2468-2478
Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis

Tom Karlsen and colleagues report an association study for primary sclerosing cholangitis (PSC), a severe liver disease, using the Immunochip array. They identify nine loci newly associated with PSC and examine pleiotropy with other autoimmune disorders.

Jimmy Z Liu
Johannes Roksund Hov
Tom H Karlsen
Research21 Apr 2013
Nature Genetics

Volume: 45, P: 670-675
Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease

Konstantinos Lazaridis, Carl Anderson and colleagues report results of a genome-wide association study of primary sclerosing cholangitis (PSC). They identify four new susceptibility loci for PSC and quantify the correlation of common genetic variation shared between PSC and inflammatory bowel diseases.

Sun-Gou Ji
Brian D Juran
Carl A Anderson
Research19 Dec 2016
Nature Genetics

Volume: 49, P: 269-273
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13

Julian Zielenski
Mary Corey
Lap-Chee Tsui
Correspondence01 Jun 1999
Nature Genetics

Volume: 22, P: 128-129
Risk of progression and survival in multiple myeloma relapsing after therapy with IMiDs and bortezomib: A multicenter international myeloma working group study

S K Kumar
J H Lee
Jeffrey Zonder
Research29 Jul 2011
Leukemia

Volume: 26, P: 149-157
Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis

Lisa Strug and colleagues report a genome-wide association study for meconium ileus in individuals with cystic fibrosis. Conventional genome-wide approaches identified variants in SLC26A9 and SLC6A14 associated with meconium ileus. The authors also performed a hypothesis-driven genome-wide association study (HD-GWAS) that upweighted 3,814 SNPs within 10 kb of 155 genes expressed in the apical plasma membrane. The HD-GWAS identified variants near SLC9A3 associated with meconium ileus.

Lei Sun
Johanna M Rommens
Lisa J Strug
Research01 Apr 2012
Nature Genetics

Volume: 44, P: 562-569
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

Martin Zenker
Julia Mayerle
André Reis
Research20 Nov 2005
Nature Genetics

Volume: 37, P: 1345-1350
Cystic fibrosis from the gastroenterologist's perspective

Cystic fibrosis is caused by different mutations in theCFTRgene and can vary in severity and manifestation. Besides the well-known pulmonary consequences, the hepatobiliary and gastrointestinal tracts are also involved and will be the focus of this Review. In addition, the effect of new therapies on the gastrointestinal system will be examined, including potential benefits of using intestinal endpoints in clinical trials.

Chee Y. Ooi
Peter R. Durie
Reviews21 Jan 2016
Nature Reviews Gastroenterology & Hepatology

Volume: 13, P: 175-185
Prospective randomised trial of amifostine cytoprotection in myeloma patients undergoing high-dose melphalan conditioned autologous stem cell transplantation

A Spencer
N Horvath
K Taylor
Research21 Mar 2005
Bone Marrow Transplantation

Volume: 35, P: 971-977
Synergistic Effects of cAMP- and Calcium-Mediated Amylase Secretion in Isolated Pancreatic Acini from Cystic Fibrosis Mice

Shangguo Tang
Satti Beharry
Peter R Durie
Research01 Apr 1999
Pediatric Research

Volume: 45, P: 482-488
Four consecutive yearly point-prevalence studies in Wales indicate lack of improvement in sepsis care on the wards

Maja Kopczynska
Harry Unwin
Judith E. Hall
ResearchOpen Access10 Aug 2021
Scientific Reports

Volume: 11, P: 1-12
Phenotypic Abnormalities in Long-Term Surviving Cystic Fibrosis Mice

Geraldine Kent
Mary Oliver
Manuel Buchwald
Research01 Aug 1996
Pediatric Research

Volume: 40, P: 233-241
Exocrine Pancreatic Alterations in Long-Lived Surviving Cystic Fibrosis Mice

Wan F Ip
Inez Bronsveld
Peter R Durie
Research01 Aug 1996
Pediatric Research

Volume: 40, P: 242-249

Search

Plasma Immunoreactive Pancreatic Cationic Trypsinogen in Cystic Fibrosis: a Sensitive Indicator of Exocrine Pancreatic Dysfunction

Evidence for a Primary Defect of Pancreatic HCO₃⁻ Secretion in Cystic Fibrosis

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

PLASMA BENZOYL-TYROSYL-PABA TEST IN EVALUATING EXOCRINE PANCREATIC FUNCTION IN CF: A PHARMACOKINETIC APPROACH

GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

Reversal of multidrug resistance by surfactants

Mapping the human genetic architecture of COVID-19

Whole-genome sequencing reveals host factors underlying critical COVID-19

A second update on mapping the human genetic architecture of COVID-19

Levels of expression of the mdr1 gene and glutathione S-transferase genes 2 and 3 and response to chemotherapy in multiple myeloma

TREATMENT OF DISTAL INTESTINAL OBSTRUCTION SYNDROME (DIOS) IN CYSTIC FIBROSIS (CF) WITH AN INTESTINAL LAVAGE SOLUTION

Genetic mechanisms of critical illness in COVID-19

Correction: Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

CYCLOSPORIN-INDUCED REMISSION IN SEVERE COLITIS UNRESPONSIVE TO CORTICOSTEROID THERAPY

Mutations in SBDS are associated with Shwachman–Diamond syndrome

Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis

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

542 CIRCULATING IMMUNOREACTIVE PANCREATIC CATIONIC AND ANIONIC TRYPSIN(OGEN) IN PANCREATIC INSUFFICIENCY

Allogeneic transplantation in multiple myeloma: long-term follow-up and cytogenetic subgroup analysis

Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

USE OF ¹³C-GLUCOSE BREATH TESTS IN THE CHARACTERIZATION OF ABSORPTION OF CARBOHYDRATE IN FORMULA BY INFANTS WITH DIARRHEA

Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene

Cell-free DNA chromosome copy number variations predict outcomes in plasma cell myeloma

Distribution of CFTR mutations in Saguenay– Lac-Saint-Jean: proposal of a panel of mutations for population screening

High-throughput electron tomography identifies centriole over-elongation as an early event in plasma cell disorders

Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis

Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease

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

Risk of progression and survival in multiple myeloma relapsing after therapy with IMiDs and bortezomib: A multicenter international myeloma working group study

Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

Cystic fibrosis from the gastroenterologist's perspective

Prospective randomised trial of amifostine cytoprotection in myeloma patients undergoing high-dose melphalan conditioned autologous stem cell transplantation

Synergistic Effects of cAMP- and Calcium-Mediated Amylase Secretion in Isolated Pancreatic Acini from Cystic Fibrosis Mice

Four consecutive yearly point-prevalence studies in Wales indicate lack of improvement in sepsis care on the wards

Phenotypic Abnormalities in Long-Term Surviving Cystic Fibrosis Mice

Exocrine Pancreatic Alterations in Long-Lived Surviving Cystic Fibrosis Mice

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