Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes.
Human genetics | 1994-04-01 | PMID 7513293
Chillón M, Casals T, Giménez J and 5 more
Genes: CFTR
Publication catalog
Biomedical publications with connected research
Browse 1,060,000 source-attributed publications. Article pages show available bibliographic context, indexed concepts and SPECTER2 related publications where supported by the source and graph. Missing metadata is not invented, and source retraction notices remain visible.
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Publications
Page 394 of 10600
Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens.
Human genetics | 1994-04-01 | PMID 7513294
Culard J F, Desgeorges M, Costa P and 5 more
Genes: CFTR
Heterogeneous activation thresholds to cytokines in genetically distinct endothelial cells: evidence for diverse transcriptional responses.
Proceedings of the National Academy of Sciences of the United States of America | 1994-04-26 | PMID 7513430
Bender J R, Sadeghi M M, Watson C and 2 more
Deciduoid peritoneal mesothelioma. An unusual phenotype affecting young females.
The American journal of surgical pathology | 1994-05-01 | PMID 7513500
Nascimento A G, Keeney G L, Fletcher C D
Defining rules for the peptide-MHC class II interaction.
Current opinion in immunology | 1994-02-01 | PMID 7513526
Sinigaglia F, Hammer J
At least two different regions are involved in allelic imbalance on chromosome arm 16q in breast cancer.
Genes, chromosomes & cancer | 1994-02-01 | PMID 7513539
Cleton-Jansen A M, Moerland E W, Kuipers-Dijkshoorn N J and 5 more
The spectrum of TP53 mutations in bladder carcinoma.
Genes, chromosomes & cancer | 1994-02-01 | PMID 7513540
Williamson M P, Elder P A, Knowles M A
Allelotype of uterine cancer by analysis of RFLP and microsatellite polymorphisms: frequent loss of heterozygosity on chromosome arms 3p, 9q, 10q, and 17p.
Genes, chromosomes & cancer | 1994-02-01 | PMID 7513541
Jones M H, Koi S, Fujimoto I and 3 more
Genes: APC
CGG-repeat polymorphism of the BCR gene rules out predisposing alleles leading to the Philadelphia chromosome.
Genes, chromosomes & cancer | 1994-02-01 | PMID 7513545
Riggins G J, Sherman S L, Phillips C N and 3 more
Genes: BCR
[Rationale for alcohol consumption and mitochondrial aldehyde dehydrogenase genotype in the native male population of Chukotka].
Vestnik Rossiiskoi akademii meditsinskikh nauk | 1994-01-01 | PMID 7513575
Kurilovich S A, Avksentiuk A V, Segal B and 3 more
Genes: ALDH2
Effects of signalling transduction modulators on the transformed phenotypes in v-H-ras-transformed NIH 3T3 cells.
Cancer letters | 1993-11-01 | PMID 7513607
Kuo M L, Kang J J, Yang N C
V79 Chinese hamster lung cells resistant to the bis-alkylator bizelesin are multidrug-resistant.
Cancer chemotherapy and pharmacology | 1994-01-01 | PMID 7513620
Butryn R K, Smith K S, Adams E G and 4 more
The regulation of sperm motility by a novel hyaluronan receptor.
Fertility and sterility | 1994-05-01 | PMID 7513657
Kornovski B S, McCoshen J, Kredentser J and 1 more
Developmental potentials of enteric neural crest-derived cells in clonal and mass cultures.
Developmental biology | 1994-05-01 | PMID 7513659
Sextier-Sainte-Claire Deville F, Ziller C, Le Douarin N M
Participation of the endoplasmic reticulum chaperone calnexin (p88, IP90) in the biogenesis of the cystic fibrosis transmembrane conductance regulator.
The Journal of biological chemistry | 1994-04-29 | PMID 7513695
Pind S, Riordan J R, Williams D B
Genes: CFTR
Activation of the SH2-containing protein tyrosine phosphatase, SH-PTP2, by phosphotyrosine-containing peptides derived from insulin receptor substrate-1.
The Journal of biological chemistry | 1994-05-06 | PMID 7513703
Sugimoto S, Wandless T J, Shoelson S E and 2 more
Abnormal keratin 1 and 10 cytoskeleton in cultured keratinocytes from epidermolytic hyperkeratosis caused by keratin 10 mutations.
The Journal of investigative dermatology | 1994-05-01 | PMID 7513736
Huber M, Scaletta C, Benathan M and 5 more
Regulatory processes and the origins of spontaneous mutations.
Mutation research | 1994-05-01 | PMID 7513787
MacPhee D G
How variable is a spontaneous mutation rate in cultured mammalian cells?
Mutation research | 1994-05-01 | PMID 7513788
Boesen J J, Niericker M J, Dieteren N and 1 more
Origins of spontaneous base substitutions.
Mutation research | 1994-05-01 | PMID 7513789
von Borstel R C
X-ray-induced specific-locus mutations in the ad-3 region of two-component heterokaryons of Neurospora crassa. XII. Analysis of multiple-locus ad-3 mutations reveals a nonrandom distribution of the separate sites of recessive lethal damage throughout the genome.
Mutation research | 1994-05-01 | PMID 7513795
de Serres F J
The nature of X-ray-induced mutations in mature sperm and spermatogonial cells of Drosophila melanogaster.
Mutation research | 1994-05-01 | PMID 7513798
Eeken J C, de Jong A W, Loos M and 4 more
The influence of large deletions on the mutation frequency induced by tritiated water and X-radiation in male Drosophila melanogaster post-meiotic germ cells.
Mutation research | 1994-05-01 | PMID 7513799
Fossett N G, Byrne B J, Kelley S J and 3 more
Frequencies of HPRT mutants and micronuclei in lymphocytes of cancer patients under chemotherapy: a prospective study.
Mutation research | 1994-05-01 | PMID 7513809
Tates A D, van Dam F J, Natarajan A T and 2 more
Enzyme-dependent pausing during in vitro replication of O4-methylthymine in a defined oligonucleotide sequence.
Mutation research | 1994-05-01 | PMID 7513824
Menichini P, Mroczkowska M M, Singer B
Ki-1-positive anaplastic large cell lymphoma: a morphologic and immunologic study of 14 cases.
Polish journal of pathology : official journal of the Polish Society of Pathologists | 1994-01-01 | PMID 7513846
Biernat W
Co-amplification of the cystic fibrosis delta F508 mutation with the HLA DQA1 sequence in single cell PCR: implications for improved assessment of polar bodies and blastomeres in preimplantation diagnosis.
Prenatal diagnosis | 1993-12-01 | PMID 7513888
Wu R, Cuppens H, Buyse I and 4 more
Genes: CFTR
Asymptomatic carrier of two CFTR mutations: consequences for prenatal diagnosis?
Prenatal diagnosis | 1993-12-01 | PMID 7513889
Verlingue C, David A, Audrezet M P and 4 more
Genes: CFTR
Changes in the amino acid sequence of the coat protein readthrough domain of potato leafroll luteovirus affect the formation of an epitope and aphid transmission.
Virology | 1994-05-15 | PMID 7513925
Jolly C A, Mayo M A
Agrobacterium-mediated inoculation of PSTVd cDNAs onto tomato reveals the biological effect of apparently lethal mutations.
Virology | 1994-05-15 | PMID 7513926
Hammond R W
Lineage determination of CD7+ CD5- CD2- and CD7+ CD5+ CD2- lymphoblasts: studies on phenotype, genotype, and gene expression of myeloperoxidase, CD3 epsilon, and CD3 delta.
American journal of hematology | 1994-04-01 | PMID 7513945
Yoneda N, Tatsumi E, Teshigawara K and 6 more
Genes: MPO
Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency.
American journal of human genetics | 1994-05-01 | PMID 7513946
Tsujino S, Servidei S, Tonin P and 3 more
Genes: CGA
Detection of calcium binding proteins on polyacrylamide gels using time-resolved lanthanide luminescence photography.
Analytical biochemistry | 1994-02-01 | PMID 7513974
Hill I E, Hogue C W, Clark I D and 2 more
CD44 expression in colorectal adenomas is an early event occurring prior to K-ras and p53 gene mutation.
Archives of biochemistry and biophysics | 1994-05-01 | PMID 7513984
Kim H, Yang X L, Rosada C and 2 more
Genes: APC
Alternative splicing of CD44 pre-mRNA in human colorectal tumors.
Biochemical and biophysical research communications | 1994-04-29 | PMID 7513991
Finn L, Dougherty G, Finley G and 3 more
Characterization of HIV-1 strains isolated from patients treated with TIBO R82913.
AIDS research and human retroviruses | 1994-01-01 | PMID 7514016
Vandamme A M, Debyser Z, Pauwels R and 7 more
Elemental microanalysis of fibroblasts by a scanning proton microprobe and application to Menkes' disease.
Biological trace element research | 1994-02-01 | PMID 7514017
Allan G L, Camakaris J, Legge G J
Expression of the zeta protein subunit in CD3- NK effectors derived from human thymus.
Cellular immunology | 1994-05-01 | PMID 7514106
Beecher M S, Baiocchi R A, Linett M L and 2 more
Expression of an heterologous gene activating actinorhodin biosynthesis in Streptomyces lividans and Streptomyces coelicolor.
FEMS microbiology letters | 1994-03-01 | PMID 7514144
Romero N M, Parro V, Mellado R P
O-serogrouping and surface components of Aeromonas hydrophila and Aeromonas jandaei pathogenic for eels.
FEMS microbiology letters | 1994-03-15 | PMID 7514147
Esteve C, Amaro C, Toranzo A E
Organization and sequence of the HpaII restriction-modification system and adjacent genes.
Gene | 1994-05-03 | PMID 7514149
Kulakauskas S, Barsomian J M, Lubys A and 2 more
DCC gene alteration in human endometrial carcinomas.
International journal of cancer | 1994-05-15 | PMID 7514150
Gima T, Kato H, Honda T and 3 more
Genes: DCC
Distinct pattern of HSP72 and monomeric laminin receptor expression in human lung cancers infiltrated by gamma/delta T lymphocytes.
International journal of cancer | 1994-05-15 | PMID 7514151
Ferrarini M, Pupa S M, Zocchi M R and 2 more
Cellular and karyotypic characterization of two doxorubicin resistant cell lines isolated from the same parental human leukemia cell line.
International journal of cancer | 1994-05-15 | PMID 7514153
Zalcberg J R, Hu X F, Wall D M and 7 more
Association of 1078 del T cystic fibrosis mutation with severe disease.
Journal of medical genetics | 1994-02-01 | PMID 7514227
Moullier P, Jéhanne M, Audrézet M P and 7 more
[Biogenesis and secretion of alkaline phosphatase and its mutants in Escherichia coli. III. Substitution of N-terminal amino acids of alkaline phosphatase affect its biogenesis].
Molekuliarnaia biologiia | 2000-01-01 | PMID 7514265
Karamyshev A L, Kalinin A E, Khmel'nitskiĭ M I and 3 more
Beta-thalassaemia mutations in west Malaysia: a new thalassaemia clinical score system.
Annals of the Academy of Medicine, Singapore | 1994-01-01 | PMID 7514384
George E
The effect of activating mutations on dimerization, tyrosine phosphorylation and internalization of the macrophage colony stimulating factor receptor.
Molecular biology of the cell | 1994-01-01 | PMID 7514458
Carlberg K, Rohrschneider L
Odd Oz: a novel Drosophila pair rule gene.
Cell | 1994-05-20 | PMID 7514504
Levine A, Bashan-Ahrend A, Budai-Hadrian O and 3 more
Genes: EGF
Current observations on sickle cell genotype in Nigeria.
East African medical journal | 1993-10-01 | PMID 7514527
Nduka N, Owhochuku S M, Odike P
Genes: SCD
Significance of specific antibody assay for genotyping of hepatitis C virus.
Hepatology (Baltimore, Md.) | 1994-06-01 | PMID 7514558
Tanaka T, Tsukiyama-Kohara K, Yamaguchi K and 6 more
Gene mapping in a murine cell line by immunoselection with cytotoxic T lymphocytes.
Genomics | 1994-01-15 | PMID 7514566
Zuberi A R, Dudley M E, Christianson G J and 1 more
Two-locus linkage analysis in multiple sclerosis (MS).
Genomics | 1994-01-15 | PMID 7514567
Tienari P J, Terwilliger J D, Ott J and 2 more
Genes: MBP
The stop mutation R553X in the CFTR gene results in exon skipping.
Genomics | 1994-01-15 | PMID 7514569
Hull J, Shackleton S, Harris A
Genes: CFTR
Tn5401, a new class II transposable element from Bacillus thuringiensis.
Journal of bacteriology | 1994-05-01 | PMID 7514590
Baum J A
STV1 gene encodes functional homologue of 95-kDa yeast vacuolar H(+)-ATPase subunit Vph1p.
The Journal of biological chemistry | 1994-05-13 | PMID 7514599
Manolson M F, Wu B, Proteau D and 4 more
PDGF-BB modulates endothelial proliferation and angiogenesis in vitro via PDGF beta-receptors.
The Journal of cell biology | 1994-05-01 | PMID 7514607
Battegay E J, Rupp J, Iruela-Arispe L and 2 more
Phenotypic modulation of keratins, vimentin, and alpha-fetoprotein in cultured rat liver epithelial cells after chemical, oncogene, and spontaneous transformation.
Journal of cellular physiology | 1994-06-01 | PMID 7514612
Bisgaard H C, Ton P T, Nagy P and 1 more
Genes: AFP
Resistance monitoring in Culex pipiens (Diptera: Culicidae) from central-eastern France.
Journal of medical entomology | 1994-03-01 | PMID 7514668
Rivet Y, Raymond M, Rioux J A and 2 more
Localization of rotavirus VP4 neutralization epitopes involved in antibody-induced conformational changes of virus structure.
Journal of virology | 1994-06-01 | PMID 7514681
Zhou Y J, Burns J W, Morita Y and 2 more
Genomic imprinting: lessons from mouse transgenes.
Mutation research | 1994-06-01 | PMID 7514718
Chaillet J R
LacZ transgenic mouse models: their application in genetic toxicology.
Mutation research | 1994-06-01 | PMID 7514719
Gossen J A, de Leeuw W J, Vijg J
The use of shuttle vectors for mutation analysis in transgenic mice and rats.
Mutation research | 1994-06-01 | PMID 7514720
Dycaico M J, Provost G S, Kretz P L and 3 more
Radiation-induced point mutations, deletions and micronuclei in lacI transgenic mice.
Mutation research | 1994-06-01 | PMID 7514721
Winegar R A, Lutze L H, Hamer J D and 2 more
Initial experiences and future directions for transgenic mouse mutation assays.
Mutation research | 1994-06-01 | PMID 7514722
Suzuki T, Hayashi M, Sofuni T
Tissue-specific induction of mutations by streptozotocin in vivo.
Mutation research | 1994-06-01 | PMID 7514723
Schmezer P, Eckert C, Liegibel U M
Mutation studies with dimethyl nitrosamine in young and old lac I transgenic mice.
Mutation research | 1994-06-01 | PMID 7514724
Tinwell H, Lefevre P A, Ashby J
Antiviral drug resistance mutations in human immunodeficiency virus type 1 reverse transcriptase occur in specific RNA structural regions.
Antimicrobial agents and chemotherapy | 1994-02-01 | PMID 7514854
Schinazi R F, Lloyd R M, Ramanathan C S and 1 more
Identification of a mutation at codon 65 in the IKKK motif of reverse transcriptase that encodes human immunodeficiency virus resistance to 2',3'-dideoxycytidine and 2',3'-dideoxy-3'-thiacytidine.
Antimicrobial agents and chemotherapy | 1994-02-01 | PMID 7514855
Gu Z, Gao Q, Fang H and 5 more
Genes: AGA
Resistance to 2',3'-dideoxycytidine conferred by a mutation in codon 65 of the human immunodeficiency virus type 1 reverse transcriptase.
Antimicrobial agents and chemotherapy | 1994-02-01 | PMID 7514856
Zhang D, Caliendo A M, Eron J J and 4 more
Aphidicolin-resistant Chinese hamster ovary cells possess altered DNA polymerases of the alpha-family.
Biochimica et biophysica acta | 1994-05-17 | PMID 7514891
Fehér Z, Mishra N C
The -158 (C-->T) promoter mutation is responsible for the increased transcription of the 3' gamma gene in the Atlanta type of hereditary persistence of fetal hemoglobin.
Blood | 1994-06-01 | PMID 7514907
Efremov D G, Dimovski A J, Huisman T H
Detection of placental growth hormone variant and chorionic somatomammotropin ribonucleic acid expression in human trophoblastic neoplasms by reverse transcriptase-polymerase chain reaction.
Endocrinology | 1994-06-01 | PMID 7515000
Lytras A, Bock M E, Dodd J G and 1 more
The 5' end of yeast 5.8S rRNA is generated by exonucleases from an upstream cleavage site.
The EMBO journal | 1994-05-15 | PMID 7515008
Henry Y, Wood H, Morrissey J P and 3 more
Genetic alterations of the putative envelope proteins encoding region of the hepatitis C virus in the progression to relapsed phase from acute hepatitis: humoral immune response to hypervariable region 1.
International journal of cancer | 1994-06-01 | PMID 7515022
Sekiya H, Kato N, Ootsuyama Y and 3 more
The response of a Bacillus subtilis temperature-sensitive sigA mutant to heat stress.
Journal of bacteriology | 1994-06-01 | PMID 7515040
Chang B Y, Chen K Y, Wen Y D and 1 more
Differential phylogenetic footprinting as a means to identify base changes responsible for recruitment of the anthropoid gamma gene to a fetal expression pattern.
The Journal of biological chemistry | 1994-05-27 | PMID 7515056
Gumucio D L, Shelton D A, Blanchard-McQuate K and 6 more
A splice variant of arrestin. Molecular cloning and localization in bovine retina.
The Journal of biological chemistry | 1994-06-03 | PMID 7515057
Smith W C, Milam A H, Dugger D and 3 more
[Anti-thyrotropin (TSH) receptor antibody binding epitopes of TSH receptor: site-directed mutagenesis approach].
Nihon rinsho. Japanese journal of clinical medicine | 1994-04-01 | PMID 7515117
Akamizu T, Kosugi S, Kohn L D and 1 more
Cytotoxic T-cell activity antagonized by naturally occurring HIV-1 Gag variants.
Nature | 1994-06-02 | PMID 7515165
Klenerman P, Rowland-Jones S, McAdam S and 7 more
TAR RNA-binding protein is an inhibitor of the interferon-induced protein kinase PKR.
Proceedings of the National Academy of Sciences of the United States of America | 1994-05-24 | PMID 7515177
Park H, Davies M V, Langland J O and 7 more
Interleukin 2-independent interleukin 7 activity enhances cytotoxic immune response of HIV-1-infected individuals.
AIDS research and human retroviruses | 1994-02-01 | PMID 7515256
Carini C, Essex M
Alpha and beta thalassaemia among Chinese children in Guangxi Province, P.R. China: molecular and haematological characterization.
British journal of haematology | 1994-02-01 | PMID 7515267
Liang R, Liang S, Jiang N H and 5 more
Genes: SEA
Relationship between the structure and function of Escherichia coli initiator tRNA.
Biochimie | 1993-01-01 | PMID 7515283
Dyson M R, Mandal N, RajBhandary U L
A growth factor phenotype map for ovine preimplantation development.
Biology of reproduction | 1994-04-01 | PMID 7515284
Watson A J, Watson P H, Arcellana-Panlilio M and 5 more
Genes: EGF, NGF
c-kit ligand combined with GM-CSF and/or IL-3 can expand CD34+ hematopoietic progenitor subsets for several weeks in vitro.
Stem cells (Dayton, Ohio) | 1994-03-01 | PMID 7515297
Steen R, Mørkrid L, Tjønnfjord G E and 1 more
Identification of rare and novel mutations in the CFTR genes of CF patients in southern England.
Human mutation | 1994-01-01 | PMID 7515303
Shackleton S, Hull J, Dear S and 3 more
Genes: CFTR
Genetic basis of inherited peripheral neuropathies.
Human mutation | 1994-01-01 | PMID 7515304
Suter U, Patel P I
Genes: PMP22
Epstein-Barr virus positivity in Hodgkin's disease does not correlate with an HLA A2-negative phenotype.
Cancer | 1994-06-15 | PMID 7515326
Poppema S, Visser L
Cross-resistance to heavy metals in hydrogen peroxide-resistant CHO cell variants.
Mutation research | 1994-06-01 | PMID 7515463
Cantoni O, Hussain S, Guidarelli A and 1 more
Induction of micronuclei in cultured human lymphocytes treated with vinblastine before and after mitogen stimulation.
Mutation research | 1994-06-01 | PMID 7515467
Luomahaara S, Norppa H
Microbial mutagenicity and in vitro chromosome aberration induction by FK973, a new antitumor agent.
Mutation research | 1994-06-01 | PMID 7515469
Hirai O, Miyamae Y, Hattori Y and 4 more
Increase of micronucleus frequency in cultured rat hepatocytes treated in vitro with benomyl and pirimiphos-methyl separately and in mixture.
Mutation research | 1994-06-01 | PMID 7515471
Piatti E, Marabini L, Chiesara E
Genes: EGF
Lower mutation frequencies are induced by ENU in undifferentiated embryonic cells than in differentiated cells of the mouse in vitro.
Mutation research | 1994-06-01 | PMID 7515473
Sehlmeyer U, Wobus A M
Mutagenicity of airborne particulates from combustion of electric cables in a waste metal retrieval area.
Mutation research | 1994-06-01 | PMID 7515475
Lee H, Lin T L, Shieh R L and 1 more
Excitation-contraction uncoupling and muscular degeneration in mice lacking functional skeletal muscle ryanodine-receptor gene.
Nature | 1994-06-16 | PMID 7515481
Takeshima H, Iino M, Takekura H and 5 more
Germ-line and somatic mutations of the APC gene in patients with Turcot syndrome and analysis of APC mutations in brain tumors.
Genes, chromosomes & cancer | 1994-03-01 | PMID 7515658
Mori T, Nagase H, Horii A and 7 more
Genes: APC, FAP
C-kit gene is expressed by skin mast cells in embryos but not in puppies of Wsh/Wsh mice: age-dependent abolishment of c-kit gene expression.
Blood | 1994-06-15 | PMID 7515715
Yamazaki M, Tsujimura T, Morii E and 4 more
Increased expression of the G gamma and A gamma globin genes associated with a mutation in the A gamma enhancer.
Blood | 1994-06-15 | PMID 7515719
Balta G, Brickner H E, Takegawa S and 4 more
Genetics of nanos localization in Drosophila.
Developmental dynamics : an official publication of the American Association of Anatomists | 1994-02-01 | PMID 7515724
Wang C, Dickinson L K, Lehmann R