ABCC7 p.Pro574His

ClinVar: c.1721C>A , p.Pro574His D , Pathogenic
c.1720C>T , p.Pro574Ser ? , not provided
CF databases: c.1720C>T , p.Pro574Ser (CFTR1) D , The P574S mutation was simultaneously detected in two families with no apparent relation but living in the center part of France (Auvergne). The P574S mutation was detected in CFTR gene by DGGE and identified by sequencing. In one family this mutation was associated with N1303K, in the other family it was associated with the F508del.
c.1721C>A , p.Pro574His (CFTR1) ? , Although the amino acid pro at this position is not highly conserved across different ATP-binding folds, his seems to be a drastic substitution. This change is not detected in 52 other CF chromosomes nor 15 normal chromosomes, 4 of which have the same group IV haplotype.
Predicted by SNAP2: A: D (91%), C: D (95%), D: D (95%), E: D (95%), F: D (95%), G: D (95%), H: D (53%), I: D (95%), K: D (95%), L: D (95%), M: D (95%), N: D (95%), Q: D (95%), R: D (95%), S: D (95%), T: D (95%), V: D (95%), W: D (95%), Y: D (95%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

[switch to compact view]
Comments [show]
Publications
[hide] Frelet A, Klein M
Insight in eukaryotic ABC transporter function by mutation analysis.
FEBS Lett. 2006 Feb 13;580(4):1064-84. Epub 2006 Jan 19., 2006-02-13 [PMID:16442101] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Zeitlin PL
Novel pharmacologic therapies for cystic fibrosis.
J Clin Invest. 1999 Feb;103(4):447-52., [PMID:10021451] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Ostedgaard LS, Zeiher B, Welsh MJ
Processing of CFTR bearing the P574H mutation differs from wild-type and deltaF508-CFTR.
J Cell Sci. 1999 Jul;112 ( Pt 13):2091-8., [PMID:10362539] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Zeitlin PL
Pharmacologic restoration of delta F508 CFTR-mediated chloride current.
Kidney Int. 2000 Mar;57(3):832-7., [PMID:10720936] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Van Oene M, Lukacs GL, Rommens JM
Cystic fibrosis mutations lead to carboxyl-terminal fragments that highlight an early biogenesis step of the cystic fibrosis transmembrane conductance regulator.
J Biol Chem. 2000 Jun 30;275(26):19577-84., 2000-06-30 [PMID:10764788] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Zeitlin PL
Future pharmacological treatment of cystic fibrosis.
Respiration. 2000;67(4):351-7., [PMID:10940786] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Choo-Kang LR, Zeitlin PL
Type I, II, III, IV, and V cystic fibrosis transmembrane conductance regulator defects and opportunities for therapy.
Curr Opin Pulm Med. 2000 Nov;6(6):521-9., [PMID:11100963] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Roomans GM
Pharmacological treatment of the ion transport defect in cystic fibrosis.
Expert Opin Investig Drugs. 2001 Jan;10(1):1-19., [PMID:11116277] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Heim RA, Sugarman EA, Allitto BA
Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.
Genet Med. 2001 May-Jun;3(3):168-76., [PMID:11388756] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Choo-Kang LR, Zeitlin PL
Induction of HSP70 promotes DeltaF508 CFTR trafficking.
Am J Physiol Lung Cell Mol Physiol. 2001 Jul;281(1):L58-68., [PMID:11404246] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Walkowiak J, Herzig KH, Witt M, Pogorzelski A, Piotrowski R, Barra E, Sobczynska-Tomaszewska A, Trawinska-Bartnicka M, Strzykala K, Cichy W, Sands D, Rutkiewicz E, Krawczynski M
Analysis of exocrine pancreatic function in cystic fibrosis: one mild CFTR mutation does not exclude pancreatic insufficiency.
Eur J Clin Invest. 2001 Sep;31(9):796-801., [PMID:11589722] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Sangiuolo F, D'Apice MR, Bruscia E, Lucidi V, Novelli G
Towards the pharmacogenomics of cystic fibrosis.
Pharmacogenomics. 2002 Jan;3(1):75-87., [PMID:11966405] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Salvatore F, Scudiero O, Castaldo G
Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes.
Am J Med Genet. 2002 Jul 22;111(1):88-95., 2002-07-22 [PMID:12124743] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Scotet V, Barton DE, Watson JB, Audrezet MP, McDevitt T, McQuaid S, Shortt C, De Braekeleer M, Ferec C, Le Marechal C
Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland.
Hum Mutat. 2003 Jul;22(1):105., [PMID:12815607] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Ahmed N, Corey M, Forstner G, Zielenski J, Tsui LC, Ellis L, Tullis E, Durie P
Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas.
Gut. 2003 Aug;52(8):1159-64., [PMID:12865275] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Derand R, Bulteau-Pignoux L, Becq F
Comparative pharmacology of the activity of wild-type and G551D mutated CFTR chloride channel: effect of the benzimidazolone derivative NS004.
J Membr Biol. 2003 Jul 15;194(2):109-17., 2003-07-15 [PMID:14502435] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Morinville V, Perrault J
Genetic disorders of the pancreas.
Gastroenterol Clin North Am. 2003 Sep;32(3):763-87., [PMID:14562574] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Reboul MP, Laharie D, Amouretti M, Lacombe D, Iron A
Isolated idiopathic chronic pancreatitis associated with a compound heterozygosity for two mutations of the CFTR gene.
Gastroenterol Clin Biol. 2003 Aug-Sep;27(8-9):821-4., [PMID:14586256] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Raskin S, Pereira L, Reis F, Rosario NA, Ludwig N, Valentim L, Phillips JA 3rd, Allito B, Heim RA, Sugarman EA, Probst CM, Faucz F, Culpi L
High allelic heterogeneity between Afro-Brazilians and Euro-Brazilians impacts cystic fibrosis genetic testing.
Genet Test. 2003 Fall;7(3):213-8., [PMID:14641997] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Zeitlin PL
Emerging drug treatments for cystic fibrosis.
Expert Opin Emerg Drugs. 2003 Nov;8(2):523-35., [PMID:14662004] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Choudari CP, Imperiale TF, Sherman S, Fogel E, Lehman GA
Risk of pancreatitis with mutation of the cystic fibrosis gene.
Am J Gastroenterol. 2004 Jul;99(7):1358-63., [PMID:15233679] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Davis PB, Schluchter MD, Konstan MW
Relation of sweat chloride concentration to severity of lung disease in cystic fibrosis.
Pediatr Pulmonol. 2004 Sep;38(3):204-9., [PMID:15274098] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Borowitz D, Baker SS, Duffy L, Baker RD, Fitzpatrick L, Gyamfi J, Jarembek K
Use of fecal elastase-1 to classify pancreatic status in patients with cystic fibrosis.
J Pediatr. 2004 Sep;145(3):322-6., [PMID:15343184] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Sugarman EA, Rohlfs EM, Silverman LM, Allitto BA
CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.
Genet Med. 2004 Sep-Oct;6(5):392-9., [PMID:15371903] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Wang X, Matteson J, An Y, Moyer B, Yoo JS, Bannykh S, Wilson IA, Riordan JR, Balch WE
COPII-dependent export of cystic fibrosis transmembrane conductance regulator from the ER uses a di-acidic exit code.
J Cell Biol. 2004 Oct 11;167(1):65-74., 2004-10-11 [PMID:15479737] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Cohn JA, Mitchell RM, Jowell PS
The role of cystic fibrosis gene mutations in determining susceptibility to chronic pancreatitis.
Gastroenterol Clin North Am. 2004 Dec;33(4):817-37, vii., [PMID:15528020] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Claustres M
Molecular pathology of the CFTR locus in male infertility.
Reprod Biomed Online. 2005 Jan;10(1):14-41., [PMID:15705292] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Cohn JA, Mitchell RM, Jowell PS
The impact of cystic fibrosis and PSTI/SPINK1 gene mutations on susceptibility to chronic pancreatitis.
Clin Lab Med. 2005 Mar;25(1):79-100., [PMID:15749233] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Turcios NL
Cystic fibrosis: an overview.
J Clin Gastroenterol. 2005 Apr;39(4):307-17., [PMID:15758625] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Cohn JA
Reduced CFTR function and the pathobiology of idiopathic pancreatitis.
J Clin Gastroenterol. 2005 Apr;39(4 Suppl 2):S70-7., [PMID:15758663] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Kerem E
Pharmacological induction of CFTR function in patients with cystic fibrosis: mutation-specific therapy.
Pediatr Pulmonol. 2005 Sep;40(3):183-96., [PMID:15880796] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Pedemonte N, Lukacs GL, Du K, Caci E, Zegarra-Moran O, Galietta LJ, Verkman AS
Small-molecule correctors of defective DeltaF508-CFTR cellular processing identified by high-throughput screening.
J Clin Invest. 2005 Sep;115(9):2564-71. Epub 2005 Aug 25., [PMID:16127463] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Eudes R, Lehn P, Ferec C, Mornon JP, Callebaut I
Nucleotide binding domains of human CFTR: a structural classification of critical residues and disease-causing mutations.
Cell Mol Life Sci. 2005 Sep;62(18):2112-23., [PMID:16132229] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Sarles J, Berthezene P, Le Louarn C, Somma C, Perini JM, Catheline M, Mirallie S, Luzet K, Roussey M, Farriaux JP, Berthelot J, Dagorn JC
Combining immunoreactive trypsinogen and pancreatitis-associated protein assays, a method of newborn screening for cystic fibrosis that avoids DNA analysis.
J Pediatr. 2005 Sep;147(3):302-5., [PMID:16182665] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Becq F
On the discovery and development of CFTR chloride channel activators.
Curr Pharm Des. 2006;12(4):471-84., [PMID:16472140] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Mishra A, Greaves R, Massie J
The relevance of sweat testing for the diagnosis of cystic fibrosis in the genomic era.
Clin Biochem Rev. 2005 Nov;26(4):135-53., [PMID:16648884] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Verkman AS, Lukacs GL, Galietta LJ
CFTR chloride channel drug discovery--inhibitors as antidiarrheals and activators for therapy of cystic fibrosis.
Curr Pharm Des. 2006;12(18):2235-47., [PMID:16787252] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Turnbull EL, Rosser MF, Cyr DM
The role of the UPS in cystic fibrosis.
BMC Biochem. 2007 Nov 22;8 Suppl 1:S11., [PMID:18047735] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Caci E, Caputo A, Hinzpeter A, Arous N, Fanen P, Sonawane N, Verkman AS, Ravazzolo R, Zegarra-Moran O, Galietta LJ
Evidence for direct CFTR inhibition by CFTR(inh)-172 based on Arg347 mutagenesis.
Biochem J. 2008 Jul 1;413(1):135-42., 2008-07-01 [PMID:18366345] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Paranjape SM, Zeitlin PL
Atypical cystic fibrosis and CFTR-related diseases.
Clin Rev Allergy Immunol. 2008 Dec;35(3):116-23., [PMID:18493878] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Chen JH, Cai Z, Sheppard DN
Direct sensing of intracellular pH by the cystic fibrosis transmembrane conductance regulator (CFTR) Cl- channel.
J Biol Chem. 2009 Dec 18;284(51):35495-506. Epub ., 2009-12-18 [PMID:19837660] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Dorfman R, Nalpathamkalam T, Taylor C, Gonska T, Keenan K, Yuan XW, Corey M, Tsui LC, Zielenski J, Durie P
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
Clin Genet. 2010 May;77(5):464-73. Epub 2009 Jan 6., [PMID:20059485] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Da Paula AC, Sousa M, Xu Z, Dawson ES, Boyd AC, Sheppard DN, Amaral MD
Folding and rescue of a cystic fibrosis transmembrane conductance regulator trafficking mutant identified using human-murine chimeric proteins.
J Biol Chem. 2010 Aug 27;285(35):27033-44. Epub 2010 Jun 15., 2010-08-27 [PMID:20551307] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Green DM, McDougal KE, Blackman SM, Sosnay PR, Henderson LB, Naughton KM, Collaco JM, Cutting GR
Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients.
Respir Res. 2010 Oct 8;11:140., [PMID:20932301] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Ostedgaard LS, Meyerholz DK, Vermeer DW, Karp PH, Schneider L, Sigmund CD, Welsh MJ
Cystic fibrosis transmembrane conductance regulator with a shortened R domain rescues the intestinal phenotype of CFTR-/- mice.
Proc Natl Acad Sci U S A. 2011 Feb 15;108(7):2921-6. Epub 2011 Feb 1., 2011-02-15 [PMID:21285372] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Rohlfs EM, Zhou Z, Heim RA, Nagan N, Rosenblum LS, Flynn K, Scholl T, Akmaev VR, Sirko-Osadsa DA, Allitto BA, Sugarman EA
Cystic fibrosis carrier testing in an ethnically diverse US population.
Clin Chem. 2011 Jun;57(6):841-8. Epub 2011 Apr 7., [PMID:21474639] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Cai Z, Sohma Y, Bompadre SG, Sheppard DN, Hwang TC
Application of high-resolution single-channel recording to functional studies of cystic fibrosis mutants.
Methods Mol Biol. 2011;741:419-41., [PMID:21594800] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Becq F, Mall MA, Sheppard DN, Conese M, Zegarra-Moran O
Pharmacological therapy for cystic fibrosis: from bench to bedside.
J Cyst Fibros. 2011 Jun;10 Suppl 2:S129-45., [PMID:21658632] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Bombieri C, Claustres M, De Boeck K, Derichs N, Dodge J, Girodon E, Sermet I, Schwarz M, Tzetis M, Wilschanski M, Bareil C, Bilton D, Castellani C, Cuppens H, Cutting GR, Drevinek P, Farrell P, Elborn JS, Jarvi K, Kerem B, Kerem E, Knowles M, Macek M Jr, Munck A, Radojkovic D, Seia M, Sheppard DN, Southern KW, Stuhrmann M, Tullis E, Zielenski J, Pignatti PF, Ferec C
Recommendations for the classification of diseases as CFTR-related disorders.
J Cyst Fibros. 2011 Jun;10 Suppl 2:S86-102., [PMID:21658649] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Arduino C, Ferrone M, Brusco A, Garnerone S, Fontana D, Rolle L, Carbonara AO
Congenital bilateral absence of vas deferens with a new missense mutation (P499A) in the CFTR gene.
Clin Genet. 1998 Mar;53(3):202-4., [PMID:9630075] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Wilschanski M, Durie PR
Pathology of pancreatic and intestinal disorders in cystic fibrosis.
J R Soc Med. 1998;91 Suppl 34:40-9., [PMID:9709387] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Vankeerberghen A, Wei L, Jaspers M, Cassiman JJ, Nilius B, Cuppens H
Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.
Hum Mol Genet. 1998 Oct;7(11):1761-9., [PMID:9736778] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Illek B, Fischer H, Machen TE
Genetic disorders of membrane transport. II. Regulation of CFTR by small molecules including HCO3-.
Am J Physiol. 1998 Dec;275(6 Pt 1):G1221-6., [PMID:9843756] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Schultz BD, Singh AK, Devor DC, Bridges RJ
Pharmacology of CFTR chloride channel activity.
Physiol Rev. 1999 Jan;79(1 Suppl):S109-44., [PMID:9922378] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Shyamala V, Baichwal V, Beall E, Ames GF
Structure-function analysis of the histidine permease and comparison with cystic fibrosis mutations.
J Biol Chem. 1991 Oct 5;266(28):18714-9., [PMID:1717452] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Ooi CY, Durie PR
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis.
J Cyst Fibros. 2012 Sep;11(5):355-62. doi: 10.1016/j.jcf.2012.05.001. Epub 2012 Jun 2., [PMID:22658665] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Dong Q, Ostedgaard LS, Rogers C, Vermeer DW, Zhang Y, Welsh MJ
Human-mouse cystic fibrosis transmembrane conductance regulator (CFTR) chimeras identify regions that partially rescue CFTR-DeltaF508 processing and alter its gating defect.
Proc Natl Acad Sci U S A. 2012 Jan 17;109(3):917-22. Epub 2011 Dec 30., [PMID:22210114] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Schrijver I, Oitmaa E, Metspalu A, Gardner P
Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.
J Mol Diagn. 2005 Aug;7(3):375-87., [PMID:16049310] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Schrijver I, Ramalingam S, Sankaran R, Swanson S, Dunlop CL, Keiles S, Moss RB, Oehlert J, Gardner P, Wassman ER, Kammesheidt A
Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.
J Mol Diagn. 2005 May;7(2):289-99., [PMID:15858154] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Powell K, Zeitlin PL
Therapeutic approaches to repair defects in deltaF508 CFTR folding and cellular targeting.
Adv Drug Deliv Rev. 2002 Dec 5;54(11):1395-408., [PMID:12458151] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Durno C, Corey M, Zielenski J, Tullis E, Tsui LC, Durie P
Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis.
Gastroenterology. 2002 Dec;123(6):1857-64., [PMID:12454843] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Naruse S, Kitagawa M, Ishiguro H, Fujiki K, Hayakawa T
Cystic fibrosis and related diseases of the pancreas.
Best Pract Res Clin Gastroenterol. 2002 Jun;16(3):511-26., [PMID:12079272] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Xie J, Zhao J, Davis PB, Ma J
Conformation, independent of charge, in the R domain affects cystic fibrosis transmembrane conductance regulator channel openings.
Biophys J. 2000 Mar;78(3):1293-305., [PMID:10692317] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Claustres M, Guittard C, Bozon D, Chevalier F, Verlingue C, Ferec C, Girodon E, Cazeneuve C, Bienvenu T, Lalau G, Dumur V, Feldmann D, Bieth E, Blayau M, Clavel C, Creveaux I, Malinge MC, Monnier N, Malzac P, Mittre H, Chomel JC, Bonnefont JP, Iron A, Chery M, Georges MD
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Hum Mutat. 2000;16(2):143-56., [PMID:10923036] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Zerhusen B, Ma J
Function of the second nucleotide-binding fold in the CFTR chloride channel.
FEBS Lett. 1999 Oct 8;459(2):177-85., [PMID:10518014] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Schwiebert EM, Benos DJ, Fuller CM
Cystic fibrosis: a multiple exocrinopathy caused by dysfunctions in a multifunctional transport protein.
Am J Med. 1998 Jun;104(6):576-90., [PMID:9674722] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Wigley WC, Vijayakumar S, Jones JD, Slaughter C, Thomas PJ
Transmembrane domain of cystic fibrosis transmembrane conductance regulator: design, characterization, and secondary structure of synthetic peptides m1-m6.
Biochemistry. 1998 Jan 20;37(3):844-53., [PMID:9454574] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Bianchet MA, Ko YH, Amzel LM, Pedersen PL
Modeling of nucleotide binding domains of ABC transporter proteins based on a F1-ATPase/recA topology: structural model of the nucleotide binding domains of the cystic fibrosis transmembrane conductance regulator (CFTR).
J Bioenerg Biomembr. 1997 Oct;29(5):503-24., [PMID:9511935] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Wallis C
Diagnosing cystic fibrosis: blood, sweat, and tears.
Arch Dis Child. 1997 Feb;76(2):85-8., [PMID:9068292] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Seibert FS, Linsdell P, Loo TW, Hanrahan JW, Riordan JR, Clarke DM
Cytoplasmic loop three of cystic fibrosis transmembrane conductance regulator contributes to regulation of chloride channel activity.
J Biol Chem. 1996 Nov 1;271(44):27493-9., [PMID:8910333] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Cotten JF, Ostedgaard LS, Carson MR, Welsh MJ
Effect of cystic fibrosis-associated mutations in the fourth intracellular loop of cystic fibrosis transmembrane conductance regulator.
J Biol Chem. 1996 Aug 30;271(35):21279-84., [PMID:8702904] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Sheppard DN, Travis SM, Ishihara H, Welsh MJ
Contribution of proline residues in the membrane-spanning domains of cystic fibrosis transmembrane conductance regulator to chloride channel function.
J Biol Chem. 1996 Jun 21;271(25):14995-5001., [PMID:8663008] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Gray MA, Winpenny JP, Verdon B, McAlroy H, Argent BE
Chloride channels and cystic fibrosis of the pancreas.
Biosci Rep. 1995 Dec;15(6):531-41., [PMID:9156582] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Wilschanski M, Zielenski J, Markiewicz D, Tsui LC, Corey M, Levison H, Durie PR
Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations.
J Pediatr. 1995 Nov;127(5):705-10., [PMID:7472820] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Gan KH, Veeze HJ, van den Ouweland AM, Halley DJ, Scheffer H, van der Hout A, Overbeek SE, de Jongste JC, Bakker W, Heijerman HG
A cystic fibrosis mutation associated with mild lung disease.
N Engl J Med. 1995 Jul 13;333(2):95-9., [PMID:7539891] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Champigny G, Imler JL, Puchelle E, Dalemans W, Gribkoff V, Hinnrasky J, Dott K, Barbry P, Pavirani A, Lazdunski M
A change in gating mode leading to increased intrinsic Cl- channel activity compensates for defective processing in a cystic fibrosis mutant corresponding to a mild form of the disease.
EMBO J. 1995 Jun 1;14(11):2417-23., [PMID:7540133] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Pignatti PF, Bombieri C, Marigo C, Benetazzo M, Luisetti M
Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis.
Hum Mol Genet. 1995 Apr;4(4):635-9., [PMID:7543317] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Sheppard DN, Ostedgaard LS, Winter MC, Welsh MJ
Mechanism of dysfunction of two nucleotide binding domain mutations in cystic fibrosis transmembrane conductance regulator that are associated with pancreatic sufficiency.
EMBO J. 1995 Mar 1;14(5):876-83., [PMID:7534226] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]