A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.
about
Prevalence of deltaF508, G551D, G542X, and R553X mutations among cystic fibrosis patients in the North of BrazilCharacterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transportersEvidence that GCN1 and GCN20, translational regulators of GCN4, function on elongating ribosomes in activation of eIF2alpha kinase GCN2Two putative subunits of a peptide pump encoded in the human major histocompatibility complex class II regionPolymorphism in a second ABC transporter gene located within the class II region of the human major histocompatibility complexThe Evolution of Cystic Fibrosis CareMutations within the first LSGGQ motif of Ste6p cause defects in a-factor transport and mating in Saccharomyces cerevisiae.Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndromeCurcumin and genistein: the combined effects on disease-associated CFTR mutants and their clinical implicationsCharacterization of the human multidrug resistance protein containing mutations in the ATP-binding cassette signature region.Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among CaucasiansUse of peptide nucleic acid probes for detecting DNA single-base mutations by capillary electrophoresis.Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani familyCFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X.Association of less common cystic fibrosis mutations with a mild phenotype.Mutation and linkage disequilibrium analysis in genetic counselling of Spanish cystic fibrosis families.Heterogeneity of phenotype in two cystic fibrosis patients homozygous for the CFTR exon 11 mutation G551DStructure and function of the cystic fibrosis transmembrane conductance regulator.Mode of action and application of Scorpion primers to mutation detection.Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.Evolutionary analyses of ABC transporters of Dictyostelium discoideum.Potentiation of disease-associated cystic fibrosis transmembrane conductance regulator mutants by hydrolyzable ATP analogs.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 ileusMutations in the linker domain of NBD2 of SUR inhibit transduction but not nucleotide bindingExon 10 CFTR gene mutation in male infertilitySevere deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.Gallstone disease.Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes.Expression of the human cystic fibrosis transmembrane conductance regulator gene in the mouse lung after in vivo intratracheal plasmid-mediated gene transfer.A rapid molecular approach for chromosomal phasingNeonatal screening strategy for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis.Screening for carriers of cystic fibrosis through primary health care services.Mutation analysis of the cystic fibrosis transmembrane regulator gene in Native American populations of the southwest.Ethnic heterogeneity and cystic fibrosis transmembrane regulator (CFTR) mutation frequencies in Chicago-area CF families.A mutation in the second nucleotide binding fold of the cystic fibrosis gene.A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.Haplotype analysis of hemochromatosis: evaluation of different linkage-disequilibrium approaches and evolution of disease chromosomesCFTR!
P2860
Q22305912-24E62769-81CB-4270-BA86-25808986F645Q24290919-EDAF7023-DD1D-4E81-80E1-CD36B8876153Q24319050-6D4E19B4-8D9C-4941-84F7-DE22DB92420EQ24560017-430E7E92-B44F-424A-9EF3-91F53A59780BQ24563039-6BCB621C-A521-4C37-8158-D14C111115CFQ26999299-DE2B2318-5F70-4984-9893-8DC99A643632Q27936085-2D6020E4-5AA5-480D-82C0-2993617CF4A1Q28207783-23BF9744-C895-40BA-9533-6DE50237FBBCQ28830793-18007455-01B0-4DFD-BA98-524C1BCDEED1Q30427419-3F0212B6-8706-445F-BCB9-B09FDDA4FD77Q30445511-9DD5934E-9647-4685-8038-4A7DB6F8C880Q30445570-74A1A4DD-EE29-425C-8F48-347D8EAA5F5DQ31046093-EAC390EC-74EB-452F-BBD0-F0D5EF7549D0Q33595031-1266376D-F130-43BC-AA2C-F2555A88BED6Q33595872-1E1D3871-24CD-4041-8863-1DB710504ABEQ33596476-CFD4E979-CC07-4389-A82F-73FBD05BF444Q33597777-1CF43A68-2633-48A6-9BCC-C236CFC6E54FQ33677715-E496DC0E-6FA5-41EF-9C4A-6374FCF2A221Q33716379-D67B66F3-B624-41DC-AC80-CFC8E87E9D8CQ33786802-D0A68906-129A-4A01-BD89-E376090DC334Q33871990-5B7F8F7F-7A5E-4C25-892D-3B6760939CBCQ33903779-5AE3E683-B7BC-4B38-88E0-4068CFC02B50Q33924312-8D7E3495-A41B-4315-BF7C-9A1906B2A042Q33970491-5CF68C97-0DCF-43DF-82CD-511A1A902042Q34079244-7641155A-B4E7-4950-801C-655285F56C1CQ34196544-B06BC1AD-4F6B-49F9-9760-A8B803866DFEQ34213495-C8BD83DD-E3EF-4DB6-B21D-BFEF65B0D426Q34539932-8C0169A3-60D4-4116-BDC1-255B9CF4928CQ34634193-D2BA6C8E-8E37-4D5E-B3DD-05DE66198AB9Q34747403-E031D79E-88D6-4103-9220-76A0012D4594Q35072251-67BDBC4C-EE43-433E-842D-A0E13A090B7FQ35147393-990CCD3E-8ECF-45C2-8102-C7DB09B82131Q35179459-9AC35EFE-A5C1-4569-88C2-464123F88EF3Q35180656-B60570CA-234F-47FA-9562-34A3F0B219C6Q35196014-966BDB3B-5DBB-4DD8-B8E4-B2B83CC0BDF1Q35196303-4BB3D0BE-72F4-45B0-8774-8CBD5A18B51CQ35196449-8316E1A5-A06C-4401-B5B3-6501FE88F3A0Q35204524-D2F72FBD-B6E3-4FB8-8339-D4ACBDED0236Q35250515-E7E5DEAF-9A1D-4528-BE21-EB0D78A315E1Q35334619-78234AE0-454A-4AF1-9A68-BD4B3915A70F
P2860
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.
description
1990 nî lūn-bûn
@nan
1990年の論文
@ja
1990年学术文章
@wuu
1990年学术文章
@zh
1990年学术文章
@zh-cn
1990年学术文章
@zh-hans
1990年学术文章
@zh-my
1990年学术文章
@zh-sg
1990年學術文章
@yue
1990年學術文章
@zh-hant
name
A cluster of cystic fibrosis m ...... conductance regulator protein.
@en
A cluster of cystic fibrosis m ...... conductance regulator protein.
@nl
type
label
A cluster of cystic fibrosis m ...... conductance regulator protein.
@en
A cluster of cystic fibrosis m ...... conductance regulator protein.
@nl
prefLabel
A cluster of cystic fibrosis m ...... conductance regulator protein.
@en
A cluster of cystic fibrosis m ...... conductance regulator protein.
@nl
P2093
P356
P1433
P1476
A cluster of cystic fibrosis m ...... conductance regulator protein.
@en
P2093
Antonarakis SE
Cutting GR
Kazazian HH Jr
Rosenstein BJ
Zielenski J
P2888
P304
P356
10.1038/346366A0
P407
P577
1990-07-01T00:00:00Z
P6179
1005574691