Publications:

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The bidirectional relationship between CFTR and lipids.

Communications Biology

Cottrill, Kirsten A KA; Farinha, Carlos M CM; McCarty, Nael A NA

Publication Date: 2020-04-20

Variant appearance in text: CFTR: D572N

PubMed Link: 32313074

Variant Present in the following documents:

• Main text
• 42003_2020_Article_909.pdf

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Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients.

Molecular Genetics & Genomic Medicine

Petrova, Guergana G; Yaneva, Nadezhda N; Hrbková, Jana J; Libik, Malgorzata M; Savov, Alexey A; Macek, Milan M

Publication Date: 2019-08

Variant appearance in text: CFTR: 1714G>A; Asp572Asn

PubMed Link: 31245908

Variant Present in the following documents:

• Main text
• MGG3-7-e696.pdf

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Long-range coupling between the extracellular gates and the intracellular ATP binding domains of multidrug resistance protein pumps and cystic fibrosis transmembrane conductance regulator channels.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology

Wei, Shipeng S; Roessler, Bryan C BC; Icyuz, Mert M; Chauvet, Sylvain S; Tao, Binli B; Hartman, John L JL; Kirk, Kevin L KL

Publication Date: 2016-03

Variant appearance in text: CFTR: D572N

PubMed Link: 26606940

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CFTR: D572N

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Conserved allosteric hot spots in the transmembrane domains of cystic fibrosis transmembrane conductance regulator (CFTR) channels and multidrug resistance protein (MRP) pumps.

The Journal Of Biological Chemistry

Wei, Shipeng S; Roessler, Bryan C BC; Chauvet, Sylvain S; Guo, Jingyu J; Hartman, John L JL; Kirk, Kevin L KL

Publication Date: 2014-07-18

Variant appearance in text: CFTR: D572N

PubMed Link: 24876383

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ATP and AMP mutually influence their interaction with the ATP-binding cassette (ABC) adenylate kinase cystic fibrosis transmembrane conductance regulator (CFTR) at separate binding sites.

The Journal Of Biological Chemistry

Randak, Christoph O CO; Dong, Qian Q; Ver Heul, Amanda R AR; Elcock, Adrian H AH; Welsh, Michael J MJ

Publication Date: 2013-09-20

Variant appearance in text: CFTR: D572N

PubMed Link: 23921386

Variant Present in the following documents:

• Main text
• zbc27692.pdf

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Defective adenosine-stimulated cAMP production in cystic fibrosis airway epithelia: a novel role for CFTR in cell signaling.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology

Watson, Michael J MJ; Worthington, Erin N EN; Clunes, Lucy A LA; Rasmussen, Julia E JE; Jones, Lisa L; Tarran, Robert R

Publication Date: 2011-09

Variant appearance in text: CFTR: D572N

PubMed Link: 21628448

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AAV exploits subcellular stress associated with inflammation, endoplasmic reticulum expansion, and misfolded proteins in models of cystic fibrosis.

Plos Pathogens

Johnson, Jarrod S JS; Gentzsch, Martina M; Zhang, Liqun L; Ribeiro, Carla M P CM; Kantor, Boris B; Kafri, Tal T; Pickles, Raymond J RJ; Samulski, R Jude RJ

Publication Date: 2011-05

Variant appearance in text: CFTR: D572N

PubMed Link: 21625534

Variant Present in the following documents:

• Main text
• ppat.1002053.pdf

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Direct sensing of intracellular pH by the cystic fibrosis transmembrane conductance regulator (CFTR) Cl- channel.

The Journal Of Biological Chemistry

Chen, Jeng-Haur JH; Cai, Zhiwei Z; Sheppard, David N DN

Publication Date: 2009-12-18

Variant appearance in text: CFTR: D572N

PubMed Link: 19837660

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Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.

The Journal Of Molecular Diagnostics : Jmd

Schrijver, Iris I; Oitmaa, Eneli E; Metspalu, Andres A; Gardner, Phyllis P

Publication Date: 2005-08

Variant appearance in text: CFTR: D572N

PubMed Link: 16049310

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Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.

The Journal Of Molecular Diagnostics : Jmd

Schrijver, Iris I; Ramalingam, Sudha S; Sankaran, Ramalingam R; Swanson, Steve S; Dunlop, Charles L M CL; Keiles, Steven S; Moss, Richard B RB; Oehlert, John J; Gardner, Phyllis P; Wassman, E Robert ER; Kammesheidt, Anja A

Publication Date: 2005-05

Variant appearance in text: CFTR: D572N

PubMed Link: 15858154

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On the mechanism of MgATP-dependent gating of CFTR Cl- channels.

The Journal Of General Physiology

Vergani, Paola P; Nairn, Angus C AC; Gadsby, David C DC

Publication Date: 2003-01

Variant appearance in text: CFTR: D572N

PubMed Link: 12508051

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• Main text
• 20028673.pdf

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Regulation of CFTR Cl- channel gating by ATP binding and hydrolysis.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Ikuma, M M; Welsh, M J MJ

Publication Date: 2000-07-18

Variant appearance in text: CFTR: D572N

PubMed Link: 10880569

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CFTR: the nucleotide binding folds regulate the accessibility and stability of the activated state.

The Journal Of General Physiology

Wilkinson, D J DJ; Mansoura, M K MK; Watson, P Y PY; Smit, L S LS; Collins, F S FS; Dawson, D C DC

Publication Date: 1996-01

Variant appearance in text: CFTR: D572N

PubMed Link: 8741733

Variant Present in the following documents:

• jg1071103.pdf

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