ABCC7 p.Gly551Asp

Admin's notes: Class III (gating defect) Veit et al.
ClinVar: c.1651G>A , p.Gly551Ser D , Pathogenic
c.1652G>A , p.Gly551Asp D , Pathogenic
CF databases: c.1652G>A , p.Gly551Asp D , CF-causing ; CFTR1: This mutation has been found in six Caucasian CF chromosomes out of 155 eamined for a frequency of 4 %. It has not been found on any Black CF chromosomes. This mutation appears to be associated with a particular ten site haplotype shown on the following pages. We have not detected this mutation on any normal Caucasian chromosomes with similar haplotypes or other haplotypes.
c.1651G>A , p.Gly551Ser D , CF-causing ; CFTR1: This mutation can be detected using ASOs: normal 5' GAGTGGAGGTCAACG 3', mutant 5' GAGTGGAAGTCAACG 3' with a final wash at 42 degrees celsius in 40 mM NaHPO4, 1 mM EDTA, 0.5 % SDS for 15 minutes. Two patients were found to be homozygous for this mutation. Their parents are second cousins and each carries the G551S mutation. These patients are remarkable in that they have a mild disease without elevated Na+ levels. One patient had decreased lung function, Pseudomonas infections, chronic pancreatitis, clubbing, and is currently 49 years old. This mutation was not found in 363 non-[delta]F508 CF chromosomes, nor in over 700[delta]F508 chromosomes, nor in a small number of normal chromosomes.
Predicted by SNAP2: A: D (95%), C: D (95%), D: D (71%), E: D (95%), F: D (95%), H: D (95%), I: D (95%), K: D (95%), L: D (95%), M: D (95%), N: D (95%), P: D (95%), Q: D (95%), R: D (95%), S: N (61%), 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, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Ren XQ, Furukawa T, Haraguchi M, Sumizawa T, Aoki S, Kobayashi M, Akiyama S
Function of the ABC signature sequences in the human multidrug resistance protein 1.
Mol Pharmacol. 2004 Jun;65(6):1536-42., [PMID:15155846] [PubMed]

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[hide] Zhao Q, Chang XB
Mutation of the aromatic amino acid interacting with adenine moiety of ATP to a polar residue alters the properties of multidrug resistance protein 1.
J Biol Chem. 2004 Nov 19;279(47):48505-12. Epub 2004 Sep 7., 2004-11-19 [PMID:15355964] [PubMed]

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[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]

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

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[hide] Lissens W, Mahmoud KZ, El-Gindi E, Abdel-Sattar A, Seneca S, Van Steirteghem A, Liebaers I
Molecular analysis of the cystic fibrosis gene reveals a high frequency of the intron 8 splice variant 5T in Egyptian males with congenital bilateral absence of the vas deferens.
Mol Hum Reprod. 1999 Jan;5(1):10-3., [PMID:10050655] [PubMed]

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[hide] Loumi O, Baghriche M, Delpech M, Kaplan JC, Bienvenu T
Analysis of the complete coding region of the CFTR gene in ten Algerian cystic fibrosis families.
Hum Hered. 1999 Mar;49(2):81-4., [PMID:10077727] [PubMed]

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[hide] Schreiber R, Nitschke R, Greger R, Kunzelmann K
The cystic fibrosis transmembrane conductance regulator activates aquaporin 3 in airway epithelial cells.
J Biol Chem. 1999 Apr 23;274(17):11811-6., 1999-04-23 [PMID:10206998] [PubMed]

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[hide] Mansoura MK, Biwersi J, Ashlock MA, Verkman AS
Fluorescent chloride indicators to assess the efficacy of CFTR cDNA delivery.
Hum Gene Ther. 1999 Apr 10;10(6):861-75., 1999-04-10 [PMID:10223721] [PubMed]

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[hide] Lecoq I, Brouard J, Laroche D, Ferec C, Travert G
Blood immunoreactive trypsinogen concentrations are genetically determined in healthy and cystic fibrosis newborns.
Acta Paediatr. 1999 Mar;88(3):338-41., [PMID:10229049] [PubMed]

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[hide] Borthwick DW, West JD, Keighren MA, Flockhart JH, Innes BA, Dorin JR
Murine submucosal glands are clonally derived and show a cystic fibrosis gene-dependent distribution pattern.
Am J Respir Cell Mol Biol. 1999 Jun;20(6):1181-9., [PMID:10340937] [PubMed]

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[hide] Boucher D, Creveaux I, Grizard G, Jimenez C, Hermabessiere J, Dastugue B
Screening for cystic fibrosis transmembrane conductance regulator gene mutations in men included in an intracytoplasmic sperm injection programme.
Mol Hum Reprod. 1999 Jun;5(6):587-93., [PMID:10341008] [PubMed]

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[hide] Chabot H, Vives MF, Dagenais A, Grygorczyk C, Berthiaume Y, Grygorczyk R
Downregulation of epithelial sodium channel (ENaC) by CFTR co-expressed in Xenopus oocytes is independent of Cl- conductance.
J Membr Biol. 1999 Jun 1;169(3):175-88., 1999-06-01 [PMID:10354464] [PubMed]

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[hide] Mak V, Zielenski J, Tsui LC, Durie P, Zini A, Martin S, Longley TB, Jarvi KA
Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia.
JAMA. 1999 Jun 16;281(23):2217-24., 1999-06-16 [PMID:10376575] [PubMed]

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[hide] Bucholtz GA, Ejercito VS, Burmester JK
The cystic fibrosis conductance regulator gene exon sequence is normal in a patient with edematous eosinophilic nasal polyps.
Am J Rhinol. 1999 May-Jun;13(3):221-3., [PMID:10392242] [PubMed]

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[hide] Jakubiczka S, Bettecken T, Stumm M, Nickel I, Musebeck J, Krebs P, Fischer C, Kleinstein J, Wieacker P
Frequency of CFTR gene mutations in males participating in an ICSI programme.
Hum Reprod. 1999 Jul;14(7):1833-4., [PMID:10402399] [PubMed]

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[hide] Liechti-Gallati S, Schneider V, Neeser D, Kraemer R
Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease.
Eur J Hum Genet. 1999 Jul;7(5):590-8., [PMID:10439967] [PubMed]

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[hide] Gasparini P, Arbustini E, Restagno G, Zelante L, Stanziale P, Gatta L, Sbaiz L, Sedita AM, Banchieri N, Sapone L, Fiorucci GC, Brinson E, Shulse E, Rappaport E, Fortina P
Analysis of 31 CFTR mutations by polymerase chain reaction/oligonucleotide ligation assay in a pilot screening of 4476 newborns for cystic fibrosis.
J Med Screen. 1999;6(2):67-9., [PMID:10444722] [PubMed]

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[hide] Parad RB, Gerard CJ, Zurakowski D, Nichols DP, Pier GB
Pulmonary outcome in cystic fibrosis is influenced primarily by mucoid Pseudomonas aeruginosa infection and immune status and only modestly by genotype.
Infect Immun. 1999 Sep;67(9):4744-50., [PMID:10456926] [PubMed]

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[hide] Illek B, Zhang L, Lewis NC, Moss RB, Dong JY, Fischer H
Defective function of the cystic fibrosis-causing missense mutation G551D is recovered by genistein.
Am J Physiol. 1999 Oct;277(4 Pt 1):C833-9., [PMID:10516113] [PubMed]

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[hide] Wei L, Vankeerberghen A, Cuppens H, Eggermont J, Cassiman JJ, Droogmans G, Nilius B
Interaction between calcium-activated chloride channels and the cystic fibrosis transmembrane conductance regulator.
Pflugers Arch. 1999 Oct;438(5):635-41., [PMID:10555560] [PubMed]

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[hide] Leung GP, Wong PY
Activation of cystic fibrosis transmembrane conductance regulator in rat epididymal epithelium by genistein.
Biol Reprod. 2000 Jan;62(1):143-9., [PMID:10611078] [PubMed]

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[hide] Gundry CN, Bernard PS, Herrmann MG, Reed GH, Wittwer CT
Rapid F508del and F508C assay using fluorescent hybridization probes.
Genet Test. 1999;3(4):365-70., [PMID:10627945] [PubMed]

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[hide] Singh AK, Devor DC, Gerlach AC, Gondor M, Pilewski JM, Bridges RJ
Stimulation of Cl(-) secretion by chlorzoxazone.
J Pharmacol Exp Ther. 2000 Feb;292(2):778-87., [PMID:10640318] [PubMed]

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[hide] Phillipson GT, Petrucco OM, Matthews CD
Congenital bilateral absence of the vas deferens, cystic fibrosis mutation analysis and intracytoplasmic sperm injection.
Hum Reprod. 2000 Feb;15(2):431-5., [PMID:10655317] [PubMed]

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

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[hide] Zebrak J, Skuza B, Pogorzelski A, Ligarska R, Kopytko E, Pawlik J, Rutkiewicz E, Witt M
Partial CFTR genotyping and characterisation of cystic fibrosis patients with myocardial fibrosis and necrosis.
Clin Genet. 2000 Jan;57(1):56-60., [PMID:10733236] [PubMed]

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[hide] Stuhrmann M, Dork T
CFTR gene mutations and male infertility.
Andrologia. 2000 Mar;32(2):71-83., [PMID:10755189] [PubMed]

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[hide] Lishanski A, Kurn N, Ullman EF
Branch migration inhibition in PCR-amplified DNA: homogeneous mutation detection.
Nucleic Acids Res. 2000 May 1;28(9):E42., 2000-05-01 [PMID:10756209] [PubMed]

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[hide] Lansdell KA, Cai Z, Kidd JF, Sheppard DN
Two mechanisms of genistein inhibition of cystic fibrosis transmembrane conductance regulator Cl- channels expressed in murine cell line.
J Physiol. 2000 Apr 15;524 Pt 2:317-30., 2000-04-15 [PMID:10766914] [PubMed]

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[hide] Zielenski J
Genotype and phenotype in cystic fibrosis.
Respiration. 2000;67(2):117-33., [PMID:10773783] [PubMed]

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[hide] Dork T, Macek M Jr, Mekus F, Tummler B, Tzountzouris J, Casals T, Krebsova A, Koudova M, Sakmaryova I, Macek M Sr, Vavrova V, Zemkova D, Ginter E, Petrova NV, Ivaschenko T, Baranov V, Witt M, Pogorzelski A, Bal J, Zekanowsky C, Wagner K, Stuhrmann M, Bauer I, Seydewitz HH, Neumann T, Jakubiczka S
Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.
Hum Genet. 2000 Mar;106(3):259-68., [PMID:10798353] [PubMed]

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[hide] Orozco L, Velazquez R, Zielenski J, Tsui LC, Chavez M, Lezana JL, Saldana Y, Hernandez E, Carnevale A
Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297-1G-->A).
Hum Genet. 2000 Mar;106(3):360-5., [PMID:10798368] [PubMed]

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[hide] Greger R
Role of CFTR in the colon.
Annu Rev Physiol. 2000;62:467-91., [PMID:10845099] [PubMed]

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[hide] Kunzelmann K, Schreiber R, Nitschke R, Mall M
Control of epithelial Na+ conductance by the cystic fibrosis transmembrane conductance regulator.
Pflugers Arch. 2000 Jun;440(2):193-201., [PMID:10898518] [PubMed]

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[hide] Luo J, Zhu T, Evagelidis A, Pato MD, Hanrahan JW
Role of protein phosphatases in the activation of CFTR (ABCC7) by genistein and bromotetramisole.
Am J Physiol Cell Physiol. 2000 Jul;279(1):C108-19., [PMID:10898722] [PubMed]

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[hide] Goddard CA, Evans MJ, Colledge WH
Genistein activates CFTR-mediated Cl(-) secretion in the murine trachea and colon.
Am J Physiol Cell Physiol. 2000 Aug;279(2):C383-92., [PMID:10913005] [PubMed]

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[hide] Hyde SC, Southern KW, Gileadi U, Fitzjohn EM, Mofford KA, Waddell BE, Gooi HC, Goddard CA, Hannavy K, Smyth SE, Egan JJ, Sorgi FL, Huang L, Cuthbert AW, Evans MJ, Colledge WH, Higgins CF, Webb AK, Gill DR
Repeat administration of DNA/liposomes to the nasal epithelium of patients with cystic fibrosis.
Gene Ther. 2000 Jul;7(13):1156-65., [PMID:10918483] [PubMed]

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[hide] Pier GB
Role of the cystic fibrosis transmembrane conductance regulator in innate immunity to Pseudomonas aeruginosa infections.
Proc Natl Acad Sci U S A. 2000 Aug 1;97(16):8822-8., 2000-08-01 [PMID:10922041] [PubMed]

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[hide] Teder M, Klaassen T, Oitmaa E, Kaasik K, Metspalu A
Distribution of CFTR gene mutations in cystic fibrosis patients from Estonia.
J Med Genet. 2000 Aug;37(8):E16., [PMID:10922396] [PubMed]

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

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[hide] Ockenga J, Stuhrmann M, Ballmann M, Teich N, Keim V, Dork T, Manns MP
Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis.
Am J Gastroenterol. 2000 Aug;95(8):2061-7., [PMID:10950058] [PubMed]

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[hide] Duffieux F, Annereau JP, Boucher J, Miclet E, Pamlard O, Schneider M, Stoven V, Lallemand JY
Nucleotide-binding domain 1 of cystic fibrosis transmembrane conductance regulator production of a suitable protein for structural studies.
Eur J Biochem. 2000 Sep;267(17):5306-12., [PMID:10951189] [PubMed]

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[hide] Mall M, Wissner A, Seydewitz HH, Hubner M, Kuehr J, Brandis M, Greger R, Kunzelmann K
Effect of genistein on native epithelial tissue from normal individuals and CF patients and on ion channels expressed in Xenopus oocytes.
Br J Pharmacol. 2000 Aug;130(8):1884-92., [PMID:10952679] [PubMed]

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[hide] Lader AS, Prat AG, Jackson GR Jr, Chervinsky KL, Lapey A, Kinane TB, Cantiello HF
Increased circulating levels of plasma ATP in cystic fibrosis patients.
Clin Physiol. 2000 Sep;20(5):348-53., [PMID:10971545] [PubMed]

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[hide] Costes B, Girodon E, Vidaud D, Flori E, Ardalan A, Conteville P, Fanen P, Niel F, Vidaud M, Goossens M
Prenatal detection by real-time quantitative PCR and characterization of a new CFTR deletion, 3600+15kbdel5.3kb (or CFTRdele19).
Clin Chem. 2000 Sep;46(9):1417-20., [PMID:10973878] [PubMed]

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[hide] Rotin D
Regulation of the epithelial sodium channel (ENaC) by accessory proteins.
Curr Opin Nephrol Hypertens. 2000 Sep;9(5):529-34., [PMID:10990373] [PubMed]

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[hide] Thelwell N, Millington S, Solinas A, Booth J, Brown T
Mode of action and application of Scorpion primers to mutation detection.
Nucleic Acids Res. 2000 Oct 1;28(19):3752-61., 2000-10-01 [PMID:11000267] [PubMed]

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[hide] Wang X, Moylan B, Leopold DA, Kim J, Rubenstein RC, Togias A, Proud D, Zeitlin PL, Cutting GR
Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population.
JAMA. 2000 Oct 11;284(14):1814-9., 2000-10-11 [PMID:11025834] [PubMed]

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[hide] Thomas EJ, Gabriel SE, Makhlina M, Hardy SP, Lethem MI
Expression of nucleotide-regulated Cl(-) currents in CF and normal mouse tracheal epithelial cell lines.
Am J Physiol Cell Physiol. 2000 Nov;279(5):C1578-86., [PMID:11029305] [PubMed]

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[hide] Chroneos ZC, Wert SE, Livingston JL, Hassett DJ, Whitsett JA
Role of cystic fibrosis transmembrane conductance regulator in pulmonary clearance of Pseudomonas aeruginosa in vivo.
J Immunol. 2000 Oct 1;165(7):3941-50., 2000-10-01 [PMID:11034402] [PubMed]

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[hide] Lewis-Jones DI, Gazvani MR, Mountford R
Cystic fibrosis in infertility: screening before assisted reproduction: opinion.
Hum Reprod. 2000 Nov;15(11):2415-7., [PMID:11056144] [PubMed]

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[hide] Alton E, Kitson C
Gene therapy for cystic fibrosis.
Expert Opin Investig Drugs. 2000 Jul;9(7):1523-35., [PMID:11060757] [PubMed]

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[hide] Tanackovic G, Barisic I, Gjergja-Matejic R, Hecimovic S, Pavelic J
The incidence of cystic fibrosis (CF) mutations among patients from Croatia.
Clin Genet. 2000 Oct;58(4):333-5., [PMID:11076060] [PubMed]

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[hide] Persu A, Devuyst O, Lannoy N, Materne R, Brosnahan G, Gabow PA, Pirson Y, Verellen-Dumoulin C
CF gene and cystic fibrosis transmembrane conductance regulator expression in autosomal dominant polycystic kidney disease.
J Am Soc Nephrol. 2000 Dec;11(12):2285-96., [PMID:11095651] [PubMed]

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[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]

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[hide] Jezequel P, Dubourg C, Le Lannou D, Odent S, Le Gall JY, Blayau M, Le Treut A, David V
Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations.
Mol Hum Reprod. 2000 Dec;6(12):1063-7., [PMID:11101688] [PubMed]

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[hide] Desmarquest P, Feldmann D, Tamalat A, Boule M, Fauroux B, Tournier G, Clement A
Genotype analysis and phenotypic manifestations of children with intermediate sweat chloride test results.
Chest. 2000 Dec;118(6):1591-7., [PMID:11115444] [PubMed]

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[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]

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[hide] Kogan I, Ramjeesingh M, Huan LJ, Wang Y, Bear CE
Perturbation of the pore of the cystic fibrosis transmembrane conductance regulator (CFTR) inhibits its atpase activity.
J Biol Chem. 2001 Apr 13;276(15):11575-81. Epub 2000 Dec 21., 2001-04-13 [PMID:11124965] [PubMed]

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[hide] Shah PL
Update on clinical trials in the treatment of pulmonary disease in patients with cystic fibrosis.
Expert Opin Investig Drugs. 1999 Nov;8(11):1917-1927., [PMID:11139834] [PubMed]

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[hide] McCallum T, Milunsky J, Munarriz R, Carson R, Sadeghi-Nejad H, Oates R
Unilateral renal agenesis associated with congenital bilateral absence of the vas deferens: phenotypic findings and genetic considerations.
Hum Reprod. 2001 Feb;16(2):282-8., [PMID:11157821] [PubMed]

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[hide] Wine JJ, Kuo E, Hurlock G, Moss RB
Comprehensive mutation screening in a cystic fibrosis center.
Pediatrics. 2001 Feb;107(2):280-6., [PMID:11158459] [PubMed]

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[hide] Cuthbert AW
Assessment of CFTR chloride channel openers in intact normal and cystic fibrosis murine epithelia.
Br J Pharmacol. 2001 Feb;132(3):659-68., [PMID:11159718] [PubMed]

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[hide] Goldman A, Labrum R, Claustres M, Desgeorges M, Guittard C, Wallace A, Ramsay M
The molecular basis of cystic fibrosis in South Africa.
Clin Genet. 2001 Jan;59(1):37-41., [PMID:11168023] [PubMed]

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[hide] Choi JY, Muallem D, Kiselyov K, Lee MG, Thomas PJ, Muallem S
Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis.
Nature. 2001 Mar 1;410(6824):94-7., 2001-03-01 [PMID:11242048] [PubMed]

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[hide] Marchand E, Verellen-Dumoulin C, Mairesse M, Delaunois L, Brancaleone P, Rahier JF, Vandenplas O
Frequency of cystic fibrosis transmembrane conductance regulator gene mutations and 5T allele in patients with allergic bronchopulmonary aspergillosis.
Chest. 2001 Mar;119(3):762-7., [PMID:11243954] [PubMed]

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[hide] Galietta LJ, Springsteel MF, Eda M, Niedzinski EJ, By K, Haddadin MJ, Kurth MJ, Nantz MH, Verkman AS
Novel CFTR chloride channel activators identified by screening of combinatorial libraries based on flavone and benzoquinolizinium lead compounds.
J Biol Chem. 2001 Jun 8;276(23):19723-8. Epub 2001 Mar 21., 2001-06-08 [PMID:11262417] [PubMed]

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[hide] Hammerle MM, Aleksandrov AA, Riordan JR
Disease-associated mutations in the extracytoplasmic loops of cystic fibrosis transmembrane conductance regulator do not impede biosynthetic processing but impair chloride channel stability.
J Biol Chem. 2001 May 4;276(18):14848-54. Epub 2001 Feb 6., 2001-05-04 [PMID:11278813] [PubMed]

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[hide] Scheid P, Kempster L, Griesenbach U, Davies JC, Dewar A, Weber PP, Colledge WH, Evans MJ, Geddes DM, Alton EW
Inflammation in cystic fibrosis airways: relationship to increased bacterial adherence.
Eur Respir J. 2001 Jan;17(1):27-35., [PMID:11307750] [PubMed]

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[hide] Henry MT, Cave S, Rendall J, O'Connor CM, Morgan K, FitzGerald MX, Kalsheker N
An alpha1-antitrypsin enhancer polymorphism is a genetic modifier of pulmonary outcome in cystic fibrosis.
Eur J Hum Genet. 2001 Apr;9(4):273-8., [PMID:11313771] [PubMed]

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[hide] Zou X, Hwang TC
ATP hydrolysis-coupled gating of CFTR chloride channels: structure and function.
Biochemistry. 2001 May 15;40(19):5579-86., 2001-05-15 [PMID:11341822] [PubMed]

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[hide] Le Marechal C, Audrezet MP, Quere I, Raguenes O, Langonne S, Ferec C
Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling.
Hum Genet. 2001 Apr;108(4):290-8., [PMID:11379874] [PubMed]

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[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]

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[hide] Weber AJ, Soong G, Bryan R, Saba S, Prince A
Activation of NF-kappaB in airway epithelial cells is dependent on CFTR trafficking and Cl- channel function.
Am J Physiol Lung Cell Mol Physiol. 2001 Jul;281(1):L71-8., [PMID:11404248] [PubMed]

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[hide] Boucherot A, Schreiber R, Kunzelmann K
Regulation and properties of KCNQ1 (K(V)LQT1) and impact of the cystic fibrosis transmembrane conductance regulator.
J Membr Biol. 2001 Jul 1;182(1):39-47., 2001-07-01 [PMID:11426298] [PubMed]

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[hide] Orozco L, Gonzalez L, Chavez M, Velazquez R, Lezana JL, Saldana Y, Villarreal T, Carnevale A
XV-2c/KM-19 haplotype analysis of cystic fibrosis mutations in Mexican patients.
Am J Med Genet. 2001 Aug 15;102(3):277-81., 2001-08-15 [PMID:11484207] [PubMed]

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[hide] Joseph PM, O'Sullivan BP, Lapey A, Dorkin H, Oren J, Balfour R, Perricone MA, Rosenberg M, Wadsworth SC, Smith AE, St George JA, Meeker DP
Aerosol and lobar administration of a recombinant adenovirus to individuals with cystic fibrosis. I. Methods, safety, and clinical implications.
Hum Gene Ther. 2001 Jul 20;12(11):1369-82., 2001-07-20 [PMID:11485629] [PubMed]

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[hide] Massie RJ, Poplawski N, Wilcken B, Goldblatt J, Byrnes C, Robertson C
Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C.
Eur Respir J. 2001 Jun;17(6):1195-200., [PMID:11491164] [PubMed]

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[hide] Chen JM, Cutler C, Jacques C, Boeuf G, Denamur E, Lecointre G, Mercier B, Cramb G, Ferec C
A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.
Mol Biol Evol. 2001 Sep;18(9):1771-88., [PMID:11504857] [PubMed]

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[hide] Jenison R, La H, Haeberli A, Ostroff R, Polisky B
Silicon-based biosensors for rapid detection of protein or nucleic acid targets.
Clin Chem. 2001 Oct;47(10):1894-900., [PMID:11568116] [PubMed]

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[hide] Truninger K, Malik N, Ammann RW, Muellhaupt B, Seifert B, Muller HJ, Blum HE
Mutations of the cystic fibrosis gene in patients with chronic pancreatitis.
Am J Gastroenterol. 2001 Sep;96(9):2657-61., [PMID:11569691] [PubMed]

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[hide] Josserand RN, Bey-Omar F, Rollet J, Lejeune H, Boggio D, Durand DV, Durieu I
Cystic fibrosis phenotype evaluation and paternity outcome in 50 males with congenital bilateral absence of vas deferens.
Hum Reprod. 2001 Oct;16(10):2093-7., [PMID:11574497] [PubMed]

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[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]

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[hide] Aitken ML, Moss RB, Waltz DA, Dovey ME, Tonelli MR, McNamara SC, Gibson RL, Ramsey BW, Carter BJ, Reynolds TC
A phase I study of aerosolized administration of tgAAVCF to cystic fibrosis subjects with mild lung disease.
Hum Gene Ther. 2001 Oct 10;12(15):1907-16., 2001-10-10 [PMID:11589832] [PubMed]

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[hide] Derand R, Bulteau-Pignoux L, Mettey Y, Zegarra-Moran O, Howell LD, Randak C, Galietta LJ, Cohn JA, Norez C, Romio L, Vierfond JM, Joffre M, Becq F
Activation of G551D CFTR channel with MPB-91: regulation by ATPase activity and phosphorylation.
Am J Physiol Cell Physiol. 2001 Nov;281(5):C1657-66., [PMID:11600430] [PubMed]

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[hide] Galietta LV, Jayaraman S, Verkman AS
Cell-based assay for high-throughput quantitative screening of CFTR chloride transport agonists.
Am J Physiol Cell Physiol. 2001 Nov;281(5):C1734-42., [PMID:11600438] [PubMed]

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[hide] Fu J, Ji HL, Naren AP, Kirk KL
A cluster of negative charges at the amino terminal tail of CFTR regulates ATP-dependent channel gating.
J Physiol. 2001 Oct 15;536(Pt 2):459-70., 2001-10-15 [PMID:11600681] [PubMed]

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[hide] Wong LJ, Wang J, Zhang YH, Hsu E, Heim RA, Bowman CM, Woo MS
Improved detection of CFTR mutations in Southern California Hispanic CF patients.
Hum Mutat. 2001 Oct;18(4):296-307., [PMID:11668613] [PubMed]

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[hide] Dormer RL, Derand R, McNeilly CM, Mettey Y, Bulteau-Pignoux L, Metaye T, Vierfond JM, Gray MA, Galietta LJ, Morris MR, Pereira MM, Doull IJ, Becq F, McPherson MA
Correction of delF508-CFTR activity with benzo(c)quinolizinium compounds through facilitation of its processing in cystic fibrosis airway cells.
J Cell Sci. 2001 Nov;114(Pt 22):4073-81., [PMID:11739639] [PubMed]

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