Analysis of beta-thalassemia mutations in the United Arab Emirates provides evidence for recurrent origin of the IVSI nt 5 (G-C) mutation.
Human mutation | 1995-01-01 | PMID 7627187
De Leo R, Deidda G, Novelletto A and 3 more
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 431 of 10600
Somatic mutations in VNTR-locus D1S7 in human colorectal carcinomas are associated with microsatellite instability.
Human mutation | 1995-01-01 | PMID 7627188
Hoff-Olsen P, Meling G I, Olaisen B
A 31-mutation assay for cystic fibrosis testing in the clinical molecular diagnostics laboratory.
Human mutation | 1995-01-01 | PMID 7627189
Wall J, Cai S, Chehab F F
Lipoprotein lipase gene polymorphisms: associations with hypertriglyceridemia and body mass index in obese people.
International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity | 1995-04-01 | PMID 7627251
Jemaa R, Tuzet S, Portos C and 3 more
Genes: LPL
A single missense mutation in codon 918 of the RET proto-oncogene in sporadic medullary thyroid carcinomas.
Endocrine journal | 1995-04-01 | PMID 7627269
Maeda S, Namba H, Takamura N and 6 more
Genes: RET
Tumor-specific mutations in the tyrosine kinase domain of the RET proto-oncogene in pheochromocytomas of sporadic type.
Endocrine journal | 1995-04-01 | PMID 7627271
Yoshimoto K, Tanaka C, Hamaguchi S and 4 more
Genes: RET
Lack of evidence for a role of HLA-DP in unexplained recurrent spontaneous abortion.
Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine | 1995-01-01 | PMID 7627354
Sagot P, Bignon J, Cesbron A and 3 more
Muscular dystrophy. Brain, as well as brawn?
Current biology : CB | 1995-04-01 | PMID 7627542
Bloom T
Flower development. Origin of the cauliflower.
Current biology : CB | 1995-04-01 | PMID 7627548
Smyth D R
Cell-cycle checkpoints. Keeping mitosis in check.
Current biology : CB | 1995-04-01 | PMID 7627552
Humphrey T, Enoch T
Regulation of Caenorhabditis elegans degenerin proteins by a putative extracellular domain.
Current biology : CB | 1995-04-01 | PMID 7627559
García-Añoveros J, Ma C, Chalfie M
Apo(a) phenotypes and Lp(a) concentrations in offspring of men with and without myocardial infarction. The EARS Study. European Atherosclerosis Research Study.
Arteriosclerosis, thrombosis, and vascular biology | 1995-08-01 | PMID 7627688
Klausen I C, Beisiegel U, Menzel H J and 3 more
Is the osteopetrotic (op/op mutant) mouse completely deficient in expression of macrophage colony-stimulating factor?
Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research | 1995-04-01 | PMID 7627801
Hume D A, Favot P
Interferon-alpha 2 variants in the human genome.
Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research | 1995-04-01 | PMID 7627809
Lee N, Ni D, Brissette R and 5 more
Autosomal dominant keratitis: a possible aniridia variant.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie | 1995-04-01 | PMID 7627897
Pearce W G, Mielke B W, Hassard D T and 3 more
Familial variation in retinal pigmentation in adenomatous polyposis.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie | 1995-04-01 | PMID 7627898
Parker J A, Berk T, Bapat B V
Genes: RPE
Microinjection of monoclonal antibody PAb421 into human SW480 colorectal carcinoma cells restores the transcription activation function to mutant p53.
Cancer research | 1995-08-15 | PMID 7627952
Abarzúa P, LoSardo J E, Gubler M L and 1 more
Farnesyltransferase inhibitors block the neurofibromatosis type I (NF1) malignant phenotype.
Cancer research | 1995-08-15 | PMID 7627966
Yan N, Ricca C, Fletcher J and 3 more
A rat monoclonal anti-(human CD2) and L-leucine methyl ester impacts on human/SCID mouse graft and B lymphoproliferative syndrome.
Cancer immunology, immunotherapy : CII | 1995-06-01 | PMID 7627995
Bombil F, Kints J P, Havaux X and 3 more
Generation of cytotoxic effector cells against human melanoma.
Cancer immunology, immunotherapy : CII | 1995-06-01 | PMID 7627996
Leong S P, Zhou Y M, Granberry M E and 6 more
Sexual ambiguity and malformation in Zambia: challenges in surgical management.
The Central African journal of medicine | 1995-05-01 | PMID 7628001
Nath S, Munkonge L
A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency.
Cell | 1995-07-28 | PMID 7628016
Schmidt B, Selmer T, Ingendoh A and 1 more
Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis.
Cell | 1995-07-28 | PMID 7628019
Baker S M, Bronner C E, Zhang L and 9 more
Genes: PMS2
Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination, and predisposition to cancer.
Cell | 1995-07-28 | PMID 7628020
de Wind N, Dekker M, Berns A and 2 more
Beta-hexosaminidase: biosynthesis and processing of the normal enzyme, and identification of mutations causing Jewish Tay-Sachs disease.
Clinical biochemistry | 1995-04-01 | PMID 7628066
Mahuran D J
Whatever happened to PKU?
Clinical biochemistry | 1995-04-01 | PMID 7628072
Scriver C R
Genes: PAH
Detection of Charcot-Marie-Tooth type 1A duplication by the polymerase chain reaction.
Clinical chemistry | 1995-08-01 | PMID 7628084
Blair I P, Kennerson M L, Nicholson G A
Genes: PMP22
Restriction fragment length polymorphisms at the apoprotein genes AI, CIII and B-100 and in the 5' flanking region of the insulin gene as possible markers of coronary heart disease.
Clinical genetics | 1995-04-01 | PMID 7628120
Wick U, Witt E, Engel W
Inter- and intrafamilial variability in mucolipidosis II (I-cell disease).
Clinical genetics | 1995-04-01 | PMID 7628121
Beck M, Barone R, Hoffmann R and 4 more
Comparison of the prevalence of the poor metabolizer phenotype for CYP2D6 between 203 Hmong subjects and 280 white subjects residing in Minnesota.
Clinical pharmacology and therapeutics | 1995-07-01 | PMID 7628180
Straka R J, Hansen S R, Walker P F
Cuticular hydrocarbon composition and phenotypic variability in sympatric populations of Ixodes ricinus ticks from Poland.
Experimental & applied acarology | 1994-05-01 | PMID 7628246
Estrada-Peña A, Castellá J, Siuda K
Intraspecific diversity of the Cassava green mite Mononychellus progresivus (Acari: Tetranychidae) using comparisons of mitochondrial and nuclear ribosomal DNA sequences and cross-breeding.
Experimental & applied acarology | 1994-06-01 | PMID 7628252
Navajas M, Gutierrez J, Bonato O and 2 more
Repression of endogenous estrogen receptor activity in MCF-7 human breast cancer cells by dominant negative estrogen receptors.
Endocrinology | 1995-08-01 | PMID 7628351
Ince B A, Schodin D J, Shapiro D J and 1 more
The Drosophila insulin receptor homolog: a gene essential for embryonic development encodes two receptor isoforms with different signaling potential.
The EMBO journal | 1995-07-17 | PMID 7628438
Fernandez R, Tabarini D, Azpiazu N and 2 more
Identification and characterization of a new disulfide isomerase-like protein (DsbD) in Escherichia coli.
The EMBO journal | 1995-07-17 | PMID 7628442
Missiakas D, Schwager F, Raina S
Hsp78, a Clp homologue within mitochondria, can substitute for chaperone functions of mt-hsp70.
The EMBO journal | 1995-07-17 | PMID 7628444
Schmitt M, Neupert W, Langer T
Genes: PIM1
The membrane of peroxisomes in Saccharomyces cerevisiae is impermeable to NAD(H) and acetyl-CoA under in vivo conditions.
The EMBO journal | 1995-07-17 | PMID 7628449
van Roermund C W, Elgersma Y, Singh N and 2 more
Splicing of cauliflower mosaic virus 35S RNA is essential for viral infectivity.
The EMBO journal | 1995-07-17 | PMID 7628455
Kiss-László Z, Blanc S, Hohn T
NMR solution structure of a dsRNA binding domain from Drosophila staufen protein reveals homology to the N-terminal domain of ribosomal protein S5.
The EMBO journal | 1995-07-17 | PMID 7628456
Bycroft M, Grünert S, Murzin A G and 2 more
The Agrobacterium tumefaciens virulence D2 protein is responsible for precise integration of T-DNA into the plant genome.
The EMBO journal | 1995-07-17 | PMID 7628458
Tinland B, Schoumacher F, Gloeckler V and 2 more
Biogenesis of the yeast vacuole (lysosome). The use of active-site mutants of proteinase yscA to determine the necessity of the enzyme for vacuolar proteinase maturation and proteinase yscB stability.
European journal of biochemistry | 1995-07-01 | PMID 7628461
Rupp S, Wolf D H
Genes: PRB1
Structure and function of mutant Arg44Lys of 4-hydroxybenzoate hydroxylase implications for NADPH binding.
European journal of biochemistry | 1995-07-01 | PMID 7628466
Eppink M H, Schreuder H A, Van Berkel W J
Mutational effects on the spectroscopic properties and biological activities of oxidized bovine adrenodoxin, and their structural implications.
European journal of biochemistry | 1995-07-01 | PMID 7628475
Beckert V, Schrauber H, Bernhardt R and 3 more
Hydroxylation of collagen type I: evidence that both lysyl and prolyl residues are overhydroxylated in osteogenesis imperfecta.
European journal of clinical investigation | 1995-05-01 | PMID 7628516
Lehmann H W, Rimek D, Bodo M and 5 more
Genes: SDS
Identification of integrins involved in cell adhesion to native and denatured type I collagens and the phenotypic transition of rabbit arterial smooth muscle cells.
Experimental cell research | 1995-07-01 | PMID 7628540
Yamamoto M, Yamato M, Aoyagi M and 1 more
An isoenzyme survey of Trypanosoma cruzi genetic variability in sylvatic cycles from French Guiana.
Experimental parasitology | 1995-08-01 | PMID 7628563
Lewicka K, Breniere-Campana S F, Barnabe C and 2 more
Plasmodium falciparum: variations within the C-terminal region of merozoite surface antigen-1.
Experimental parasitology | 1995-08-01 | PMID 7628566
Tolle R, Bujard H, Cooper J A
Plasmodium falciparum: malaria morbidity is associated with specific merozoite surface antigen 2 genotypes.
Experimental parasitology | 1995-08-01 | PMID 7628572
Engelbrecht F, Felger I, Genton B and 2 more
Hereditary anaemias and iron deficiency in a tribal population (the Baiga) of central India.
European journal of haematology | 1995-08-01 | PMID 7628584
Reddy P H, Petrou M, Reddy P A and 2 more
Site-directed mutants of the beta subunit of protein kinase CK2 demonstrate the important role of Pro-58.
FEBS letters | 1995-07-17 | PMID 7628607
Hinrichs M V, Gatica M, Allende C C and 1 more
Direct electrochemistry and EPR spectroscopy of spinach ferredoxin mutants with modified electron transfer properties.
FEBS letters | 1995-07-17 | PMID 7628609
Aliverti A, Hagen W R, Zanetti G
Asn-265 of frog kainate binding protein is a functional glycosylation site: implications for the transmembrane topology of glutamate receptors.
FEBS letters | 1995-07-17 | PMID 7628611
Wo Z G, Bian Z C, Oswald R E
The gamma subunit in the Escherichia coli ATP synthase complex (ECF1F0) extends through the stalk and contacts the c subunits of the F0 part.
FEBS letters | 1995-07-17 | PMID 7628612
Watts S D, Zhang Y, Fillingame R H and 1 more
Ras binding to a C-terminal region of GAP.
FEBS letters | 1995-07-17 | PMID 7628625
Molloy D P, Owen D, Grand R J
Promoter-specific regulation of gene expression by an exogenously added homedomain that promotes neurite growth.
FEBS letters | 1995-07-17 | PMID 7628628
Le Roux I, Duharcourt S, Volovitch M and 2 more
Genes: HOXD9
The protein kinase C-activated MAP kinase pathway of Saccharomyces cerevisiae mediates a novel aspect of the heat shock response.
Genes & development | 1995-07-01 | PMID 7628692
Kamada Y, Jung U S, Piotrowski J and 1 more
Activation of the Aspergillus PacC transcription factor in response to alkaline ambient pH requires proteolysis of the carboxy-terminal moiety.
Genes & development | 1995-07-01 | PMID 7628696
Orejas M, Espeso E A, Tilburn J and 3 more
A duplicated zone of polarizing activity in polydactylous mouse mutants.
Genes & development | 1995-07-01 | PMID 7628698
Masuya H, Sagai T, Wakana S and 2 more
Compound mutants for the paralogous hoxa-4, hoxb-4, and hoxd-4 genes show more complete homeotic transformations and a dose-dependent increase in the number of vertebrae transformed.
Genes & development | 1995-07-01 | PMID 7628700
Horan G S, Ramírez-Solis R, Featherstone M S and 3 more
Isolation and characterization of ten mutator alleles of the mitochondrial DNA polymerase-encoding MIP1 gene from Saccharomyces cerevisiae.
Gene | 1995-07-04 | PMID 7628702
Hu J P, Vanderstraeten S, Foury F
A single tyrosine differentiates active and inactive Trypanosoma cruzi trans-sialidases.
Gene | 1995-07-04 | PMID 7628705
Cremona M L, Sánchez D O, Frasch A C and 1 more
Evidence for an evolutionary relationship among type-II restriction endonucleases.
Gene | 1995-07-04 | PMID 7628720
Jeltsch A, Kröger M, Pingoud A
Construction of Actinobacillus pleuropneumoniae-Escherichia coli shuttle vectors: expression of antibiotic-resistance genes.
Gene | 1995-07-04 | PMID 7628722
West S E, Romero M J, Regassa L B and 2 more
Construction of an Actinobacillus pleuropneumoniae-Escherichia coli cosmid cloning vector [Gene 160 (1995) 81-86].
Gene | 1995-07-04 | PMID 7628723
West S E, Romero M J
DNA methylation status of the MUC1 gene coding for a breast-cancer-associated protein.
International journal of cancer | 1995-07-28 | PMID 7628867
Zrihan-Licht S, Weiss M, Keydar I and 1 more
Genes: MUC1
Differential effects of verapamil and quinine on the reversal of doxorubicin resistance in a human leukemia cell line.
International journal of cancer | 1995-07-28 | PMID 7628869
Bennis S, Ichas F, Robert J
Estimation of non-additive genetic variances in three synthetic lines of beef cattle using an animal model.
Journal of animal science | 1995-04-01 | PMID 7628942
Rodríguez-Almeida F A, Van Vleck L D, Willham R L and 1 more
Mode of action of metronidazole and a Bacteroides fragilis metA resistance gene in Escherichia coli.
The Journal of antimicrobial chemotherapy | 1995-04-01 | PMID 7628983
Dachs G U, Abratt V R, Woods D R
The susceptibility of Helicobacter pylori to the rifamycin, rifaximin.
The Journal of antimicrobial chemotherapy | 1995-04-01 | PMID 7628989
Holton J, Vaira D, Menegatti M and 1 more
Functional consequences of substitution of the disulfide-bonded segment, Cys127-Cys150, located in the extracellular domain of the Na,K-ATPase beta subunit: Arg148 is essential for the functional expression of Na,K-ATPase.
Journal of biochemistry | 1995-03-01 | PMID 7629027
Ueno S, Kusaba M, Takeda K and 4 more
MacMARCKS mutation blocks macrophage phagocytosis of zymosan.
The Journal of biological chemistry | 1995-07-28 | PMID 7629059
Zhu Z, Bao Z, Li J
Identification of the major SHPTP2-binding protein that is tyrosine-phosphorylated in response to insulin.
The Journal of biological chemistry | 1995-07-28 | PMID 7629070
Yamauchi K, Ribon V, Saltiel A R and 1 more
Genes: SDS
Mosaicism in vacuolating cytotoxin alleles of Helicobacter pylori. Association of specific vacA types with cytotoxin production and peptic ulceration.
The Journal of biological chemistry | 1995-07-28 | PMID 7629077
Atherton J C, Cao P, Peek R M and 3 more
Influence of second and third cytoplasmic loops on binding, internalization, and coupling of chimeric bombesin/m3 muscarinic receptors.
The Journal of biological chemistry | 1995-07-28 | PMID 7629092
Tseng M J, Coon S, Stuenkel E and 2 more
Participation of the flank regions of the integration host factor protein in the specificity and stability of DNA binding.
The Journal of biological chemistry | 1995-07-28 | PMID 7629095
Zulianello L, van Ulsen P, van de Putte P and 1 more
Genes: TTR
Crystal structure of a cross-reaction complex between Fab F9.13.7 and guinea fowl lysozyme.
The Journal of biological chemistry | 1995-07-28 | PMID 7629116
Lescar J, Pellegrini M, Souchon H and 5 more
RTG genes in yeast that function in communication between mitochondria and the nucleus are also required for expression of genes encoding peroxisomal proteins.
The Journal of biological chemistry | 1995-07-28 | PMID 7629125
Chelstowska A, Butow R A
A hPMS2 mutant cell line is defective in strand-specific mismatch repair.
The Journal of biological chemistry | 1995-08-04 | PMID 7629132
Risinger J I, Umar A, Barrett J C and 1 more
Calcium binding in the pore of L-type calcium channels modulates high affinity dihydropyridine binding.
The Journal of biological chemistry | 1995-08-04 | PMID 7629136
Peterson B Z, Catterall W A
Variants of tissue-type plasminogen activator which display substantially enhanced stimulation by fibrin.
The Journal of biological chemistry | 1995-08-04 | PMID 7629153
Tachias K, Madison E L
Aspartate 698 within a novel cation binding motif in alpha 4 integrin is required for cell adhesion.
The Journal of biological chemistry | 1995-08-04 | PMID 7629165
Ma L, Conrad P J, Webb D L and 1 more
Horseradish peroxidase Phe172-->Tyr mutant. Sequential formation of compound I with a porphyrin radical cation and a protein radical.
The Journal of biological chemistry | 1995-08-04 | PMID 7629167
Miller V P, Goodin D B, Friedman A E and 2 more
Structural and functional roles of cysteine 90 and cysteine 240 in S-adenosylmethionine synthetase.
The Journal of biological chemistry | 1995-08-04 | PMID 7629176
Reczkowski R S, Markham G D
Activation of Jun kinase/stress-activated protein kinase by GTPase-deficient mutants of G alpha 12 and G alpha 13.
The Journal of biological chemistry | 1995-08-04 | PMID 7629196
Prasad M V, Dermott J M, Heasley L E and 2 more
Steroid 21-hydroxylase deficiency: genotype may not predict phenotype.
The Journal of clinical endocrinology and metabolism | 1995-08-01 | PMID 7629224
Wilson R C, Mercado A B, Cheng K C and 1 more
Identification of human growth hormone-releasing hormone receptor splicing variants.
The Journal of clinical endocrinology and metabolism | 1995-08-01 | PMID 7629234
Tang J, Lagacé G, Castagné J and 1 more
Genes: GHRH
The human myometrium expresses multiple isoforms of the corticotropin-releasing hormone receptor.
The Journal of clinical endocrinology and metabolism | 1995-08-01 | PMID 7629235
Grammatopoulos D, Thompson S, Hillhouse E W
Genes: CRH
Heart mass and blood pressure have separate genetic determinants in the New Zealand genetically hypertensive (GH) rat.
Journal of hypertension | 1995-04-01 | PMID 7629399
Harris E L, Phelan E L, Thompson C M and 2 more
Genes: ACE, REN, GCA
Clinical and virological findings in mixed cryoglobulinaemia.
Journal of internal medicine | 1995-08-01 | PMID 7629483
Mazzaro C, Tulissi P, Moretti M and 5 more
Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy.
Journal of neurology, neurosurgery, and psychiatry | 1995-08-01 | PMID 7629530
Nikoskelainen E K, Marttila R J, Huoponen K and 4 more
The elucidation of novel capsular genotypes of Haemophilus influenzae type b with the polymerase chain reaction.
Journal of medical microbiology | 1995-08-01 | PMID 7629851
Leaves N I, Falla T J, Crook D W
Demonstration of Mycobacterium kansasii species heterogeneity by the amplification of the 16S-23S spacer region.
Journal of medical microbiology | 1995-08-01 | PMID 7629856
Abed Y, Bollet C, De Micco P
Effect of human T-lymphotropic virus type I infection on non-Hodgkin's lymphoma incidence.
Journal of the National Cancer Institute | 1995-07-05 | PMID 7629870
Cleghorn F R, Manns A, Falk R and 7 more
[Dysfunction of E-cadherin due to mutation of beta-catenin in a scirrhous gastric cancer cell line].
Nihon rinsho. Japanese journal of clinical medicine | 1995-07-01 | PMID 7629993
Kawanishi J, Kato J, Sasaki K and 3 more
3849+10 kb C-->T mutation and disease severity in cystic fibrosis.
Lancet (London, England) | 1995-07-29 | PMID 7630247
Stern R C, Doershuk C F, Drumm M L
Association between clozapine response and allelic variation in 5-HT2A receptor gene.
Lancet (London, England) | 1995-07-29 | PMID 7630250
Arranz M, Collier D, Sodhi M and 5 more
Childhood-onset oculopharyngodistal myopathy with chronic intestinal pseudo-obstruction.
Muscle & nerve | 1995-08-01 | PMID 7630344
Amato A A, Jackson C E, Ridings L W and 1 more
A mutation-specific PCR system to detect sequence variation in the dihydropteroate synthetase gene of Plasmodium falciparum.
Molecular and biochemical parasitology | 1995-04-01 | PMID 7630375
Wang P, Brooks D R, Sims P F and 1 more
Genes: DHPS, DHFR
Essential components of the mini-exon gene promoter in the trypanosomatid Leptomonas seymouri.
Molecular and biochemical parasitology | 1995-04-01 | PMID 7630381
Hartree D, Bellofatto V
Neural regulation of thermotaxis in Caenorhabditis elegans.
Nature | 1995-07-27 | PMID 7630402
Mori I, Ohshima Y