PK-LR gene mutations in pyruvate kinase deficient Portuguese patients.
British journal of haematology | 1999-06-01 | PMID 10354117
Manco L, Ribeiro M L, Almeida H 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 1152 of 10600
Identification of a novel promoter mutation in the human pyruvate kinase (PK) LR gene of a patient with severe haemolytic anaemia.
British journal of haematology | 1999-06-01 | PMID 10354118
Kugler W, Laspe P, Stahl M and 2 more
Platelet glycoprotein IIIa polymorphism HPA 1b (PlA2): no association with platelet fibrinogen binding.
British journal of haematology | 1999-06-01 | PMID 10354127
Meiklejohn D J, Urbaniak S J, Greaves M
Prothrombin carora: hypoprothrombinaemia caused by substitution of Tyr-44 by Cys.
British journal of haematology | 1999-06-01 | PMID 10354129
Sun W Y, Ruiz-Saez A, Burkart M C and 2 more
Analysis of thiopurine methyltransferase variant alleles in childhood acute lymphoblastic leukaemia.
British journal of haematology | 1999-06-01 | PMID 10354134
McLeod H L, Coulthard S, Thomas A E and 6 more
Genes: TPMT
Rapid genotyping of human platelet antigen 1 (HPA-1) with fluorophore-labelled hybridization probes on the LightCycler.
British journal of haematology | 1999-06-01 | PMID 10354151
Nauck M S, Gierens H, Nauck M A and 2 more
Three Hong Kong Chinese cases of pretibial epidermolysis bullosa: a genodermatosis that can masquerade as an acquired inflammatory disease.
Clinical and experimental dermatology | 1999-05-01 | PMID 10354166
Tang W Y, Lee K C, Chow T C and 1 more
Recurrent molecular abnormalities in type VII collagen in Southern Italian patients with recessive dystrophic epidermolysis bullosa.
Clinical and experimental dermatology | 1999-05-01 | PMID 10354186
Ashton G H, Mellerio J E, Dunnill M G and 5 more
An angiotensin-converting enzyme gene polymorphism suggests a genetic distinction between ischaemic stroke and carotid stenosis.
European journal of clinical investigation | 1999-06-01 | PMID 10354208
Kostulas K, Huang W X, Crisby M and 6 more
Genes: ACE
HBV and proteinuria in relatives and contacts of children with hepatitis B virus-associated membranous nephropathy.
Kidney international | 1999-06-01 | PMID 10354293
Bhimma R, Coovadia H M, Kramvis A and 3 more
Glycophorin A mutation Ala65 --> Pro gives rise to a novel pair of MNS alleles ENEP (MNS39) and HAG (MNS41) and altered Wrb expression: direct evidence for GPA/band 3 interaction necessary for normal Wrb expression.
Transfusion medicine (Oxford, England) | 1999-06-01 | PMID 10354388
Poole J, Banks J, Bruce L J and 5 more
Ca2+-dependent gating mechanisms for dSlo, a large-conductance Ca2+-activated K+ (BK) channel.
Biophysical journal | 1999-06-01 | PMID 10354435
Moss B L, Silberberg S D, Nimigean C M and 1 more
Batrachotoxin-resistant Na+ channels derived from point mutations in transmembrane segment D4-S6.
Biophysical journal | 1999-06-01 | PMID 10354438
Wang S Y, Wang G K
Binding of calcium ions to bacteriorhodopsin.
Biophysical journal | 1999-06-01 | PMID 10354446
Váró G, Brown L S, Needleman R and 1 more
Ten years of gene targeting: targeted mouse mutants, from vector design to phenotype analysis.
Mechanisms of development | 1999-04-01 | PMID 10354467
Müller U
A methionine aminopeptidase and putative regulator of translation initiation is required for cell growth and patterning in Drosophila.
Mechanisms of development | 1999-04-01 | PMID 10354468
Cutforth T, Gaul U
Pax2/5 and Pax6 subdivide the early neural tube into three domains.
Mechanisms of development | 1999-04-01 | PMID 10354469
Schwarz M, Alvarez-Bolado G, Dressler G and 3 more
The suppressor of forked gene of Drosophila, which encodes a homologue of human CstF-77K involved in mRNA 3'-end processing, is required for progression through mitosis.
Mechanisms of development | 1999-04-01 | PMID 10354470
Audibert A, Simonelig M
Vegetal cell fate specification and anterior neuroectoderm formation by Hroth, the ascidian homologue of orthodenticle/otx.
Mechanisms of development | 1999-04-01 | PMID 10354472
Wada S, Saiga H
Stu-7/air-2 is a C. elegans aurora homologue essential for chromosome segregation during embryonic and post-embryonic development.
Mechanisms of development | 1999-04-01 | PMID 10354474
Woollard A, Hodgkin J
The acquisition of competence to respond to ecdysone in Drosophila is transcript specific.
Mechanisms of development | 1999-04-01 | PMID 10354477
Richards G, Da Lage J L, Huet F and 1 more
Cell-type specific modular regulation of derailed in the Drosophila nervous system.
Mechanisms of development | 1999-04-01 | PMID 10354482
Bonkowsky J L, Thomas J B
The genotype and epigenotype synergize to diversify the spatial pattern of expression of the imprinted H19 gene.
Mechanisms of development | 1999-04-01 | PMID 10354485
Lin W L, He X B, Svensson K and 6 more
Somatic mutation in the mammary gland: influence of time and estrus.
Mutation research | 1999-06-01 | PMID 10354497
Sun B, Shima N, Heddle J A
Detection of tandem CC-->TT mutations induced by oxygen radicals using mutation-specific PCR.
Mutation research | 1999-06-01 | PMID 10354498
Newcomb T G, Allen K J, Tkeshelashvili L and 1 more
Influence of p53 zygosity on select sperm parameters of the mouse.
Mutation research | 1999-06-01 | PMID 10354500
Marty M S, Singh N P, Holsapple M P and 1 more
Cell sensitivity to transplacental mutagenesis by N-ethyl-N-nitrosourea is greatest during early gestation in the Syrian hamster.
Mutation research | 1999-06-01 | PMID 10354501
Donovan P J, Smith G T
Identification of a gene, SOO1, which complements osmo-sensitivity and defect in in vitro beta1,3-glucan synthase activity in Saccharomyces cerevisiae.
Biochimica et biophysica acta | 1999-06-08 | PMID 10354506
Lee D W, Ahn G W, Kang H G and 1 more
Identification of a novel substitution in the constant region of a gene coding for an amyloidogenic kappa1 light chain.
Biochimica et biophysica acta | 1999-05-31 | PMID 10354514
Wally J, Kica G, Zhang Y and 7 more
Effects of apolipoprotein E genotype on blood lipid composition and membrane platelet fluidity in Alzheimer's disease.
Biochimica et biophysica acta | 1999-05-31 | PMID 10354518
Fernandes M A, Proença M T, Nogueira A J and 4 more
T-cell clonality in immune responses.
Immunology today | 1999-06-01 | PMID 10354551
Maini M K, Casorati G, Dellabona P and 2 more
Regional specialization in the mucosal immune system: primed cells do not always home along the same track.
Immunology today | 1999-06-01 | PMID 10354552
Brandtzaeg P, Farstad I N, Haraldsen G
The small, the large and the wild: the value of comparison in plant genomics.
Trends in genetics : TIG | 1999-06-01 | PMID 10354579
Bevan M, Murphy G
Pathoadaptive mutations: gene loss and variation in bacterial pathogens.
Trends in microbiology | 1999-05-01 | PMID 10354593
Sokurenko E V, Hasty D L, Dykhuizen D E
Gene transfer systems for the Archaea.
Trends in microbiology | 1999-05-01 | PMID 10354597
Sowers K R, Schreier H J
Recent advances in understanding the pathogenesis of Huntington's disease.
Trends in neurosciences | 1999-06-01 | PMID 10354600
Reddy P H, Williams M, Tagle D A
Development of the vertebrate ear: insights from knockouts and mutants.
Trends in neurosciences | 1999-06-01 | PMID 10354604
Fekete D M
[Cognitive impairment and cardiovascular disease risk factors. Project CASCADE Kradów. VII: Prevalence of apoprotein E isoforms in women and men at age 65-78 years of age].
Przeglad lekarski | 1998-01-01 | PMID 10354727
Pajak A, Guevara I, Kwaśniak M and 4 more
[BRCA1 and BRCA2: mutations and other genetic changes--practical relevance].
Der Chirurg; Zeitschrift fur alle Gebiete der operativen Medizen | 1999-04-01 | PMID 10354832
Scherneck S, Hofmann W
Genes: BRCA1, BRCA2
Patterning during organogenesis: genetic analysis of cardiac chamber formation.
Seminars in cell & developmental biology | 1999-02-01 | PMID 10355033
Yelon D, Stainier D Y
[Mutations in the thyrotropin receptor gene in the pathogenesis of toxic thyroid adenomas, toxic goiter nodules and autosomal dominant hyperthyroidism].
Zeitschrift fur arztliche Fortbildung und Qualitatssicherung | 1999-04-01 | PMID 10355046
Derwahl M
Derivation of extracellular polysaccharide-deficient variants from a serotype A strain of Pasteurella multocida.
Current microbiology | 1999-05-01 | PMID 10355114
Champlin F R, Patterson C E, Austin F W and 1 more
The Saccharomyces cerevisiae mevalonate diphosphate decarboxylase (erg19p) forms homodimers in vivo, and a single substitution in a structurally conserved region impairs dimerization.
Current microbiology | 1999-05-01 | PMID 10355117
Cordier H, Lacombe C, Karst F and 1 more
Genes: MVD
Mitochondrial transcript processing and restoration of male fertility in T-cytoplasm maize.
The Journal of heredity | 2000-01-01 | PMID 10355122
Wise R P, Gobelman-Werner K, Pei D and 2 more
Cryptic species of rockfishes (Sebastes: Scorpaenidae) in the southern hemisphere inferred from mitochondrial lineages.
The Journal of heredity | 2000-01-01 | PMID 10355124
Rocha-Olivares A, Rosenblatt R H, Vetter R D
[Diagnosis of malaria by allele-specific PCR].
[Rinsho ketsueki] The Japanese journal of clinical hematology | 1999-04-01 | PMID 10355138
Okayama N, Hattori Y, Sadamitsu D and 1 more
Genes: CRP
[Relationship between ALDH2 genotypes and choice of alcoholic beverages].
Nihon Arukoru Yakubutsu Igakkai zasshi = Japanese journal of alcohol studies & drug dependence | 1999-04-01 | PMID 10355247
Ishibashi T, Harada S, Fujii C and 2 more
Genes: ALDH2
Genotyping as a diagnostic aid in genetic haemochromatosis.
Journal of gastroenterology and hepatology | 1999-05-01 | PMID 10355506
Rossi E, Henderson S, Chin C Y and 4 more
Genes: HFE
A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.
Brain : a journal of neurology | 1999-05-01 | PMID 10355668
Zuberi S M, Eunson L H, Spauschus A and 8 more
Lack of variation in alphaGal expression on lymphocytes in miniature swine of different genotypes.
Xenotransplantation | 1999-02-01 | PMID 10355732
Chae S J, Kramer A D, Zhao Y and 3 more
Potyvirus helper component-proteinase and coat protein (CP) have coordinated functions in virus-host interactions and the same CP motif affects virus transmission and accumulation.
The Journal of general virology | 1999-05-01 | PMID 10355759
Andrejeva J, Puurand U, Merits A and 3 more
Mutations in the glycoprotein of viral haemorrhagic septicaemia virus that affect virulence for fish and the pH threshold for membrane fusion.
The Journal of general virology | 1999-05-01 | PMID 10355769
Gaudin Y, de Kinkelin P, Benmansour A
Inhibition of interferon-inducible MxA protein expression by hepatitis B virus capsid protein.
The Journal of general virology | 1999-05-01 | PMID 10355772
Rosmorduc O, Sirma H, Soussan P and 5 more
Analysis of genomic diversity within the Xr-region of the protein A gene in clinical isolates of Staphylococcus aureus.
Epidemiology and infection | 1999-04-01 | PMID 10355788
Kobayashi N, Urasawa S, Uehara N and 1 more
A variant of variola virus, characterized by changes in polypeptide and endonuclease profiles.
Epidemiology and infection | 1999-04-01 | PMID 10355794
Dumbell K R, Harper L, Buchan A and 2 more
Direct measurement of inter-doublet elasticity in flagellar axonemes.
Cell structure and function | 1999-02-01 | PMID 10355876
Minoura I, Yagi T, Kamiya R
SV40LT highly mutates and immortalizes two fibroblast strains from patients with Wilms' tumor.
Cell structure and function | 1999-02-01 | PMID 10355877
Kano Y, Motoda H, Hiragami F and 3 more
Electrophysiologic characteristics of accessory atrioventricular connections in an inherited form of Wolff-Parkinson-White syndrome.
Journal of cardiovascular electrophysiology | 1999-05-01 | PMID 10355918
Mehdirad A A, Fatkin D, DiMarco J P and 5 more
Polymerase chain reaction screening of immunoglobulin heavy chain and T cell receptor gamma gene rearrangements: a practical approach to molecular DNA analysis of non-Hodgkin's lymphoma in a surgical pathology laboratory.
Pathology international | 1999-02-01 | PMID 10355963
Hayashi Y, Fukayama M, Funata N and 3 more
Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program.
The Journal of pediatrics | 1999-06-01 | PMID 10356133
Sniderman L C, Lambert M, Giguère R and 5 more
Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty.
The Journal of pediatrics | 1999-06-01 | PMID 10356135
Fokstuen S, Ginsburg C, Zachmann M and 1 more
Infantile encephalopathy associated with the MELAS A3243G mutation.
The Journal of pediatrics | 1999-06-01 | PMID 10356136
Sue C M, Bruno C, Andreu A L and 8 more
The effects of zidovudine in the subset of infants infected with human immunodeficiency virus type-1 (Pediatric AIDS Clinical Trials Group Protocol 076).
The Journal of pediatrics | 1999-06-01 | PMID 10356140
McSherry G D, Shapiro D E, Coombs R W and 5 more
Influence of severe combined immunodeficiency phenotype on the outcome of HLA non-identical, T-cell-depleted bone marrow transplantation: a retrospective European survey from the European group for bone marrow transplantation and the european society for immunodeficiency.
The Journal of pediatrics | 1999-06-01 | PMID 10356144
Bertrand Y, Landais P, Friedrich W and 12 more
Prothrombin G20210A mutation in a child with spinal cord infarction.
The Journal of pediatrics | 1999-06-01 | PMID 10356151
Young G, Krohn K A, Packer R J
Chorioretinal lesions in patients and carriers of chronic granulomatous disease.
The Journal of pediatrics | 1999-06-01 | PMID 10356152
Goldblatt D, Butcher J, Thrasher A J and 1 more
Toward metabolic phenomics: analysis of genomic data using flux balances.
Biotechnology progress | 2000-01-01 | PMID 10356245
Schilling C H, Edwards J S, Palsson B O
Metabolic pathway analysis: basic concepts and scientific applications in the post-genomic era.
Biotechnology progress | 2000-01-01 | PMID 10356246
Schilling C H, Schuster S, Palsson B O and 1 more
Constrained cell recognition peptides engineered into streptavidin.
Biotechnology progress | 2000-01-01 | PMID 10356256
McDevitt T C, Nelson K E, Stayton P S
Effect of SecB chaperone on production of periplasmic penicillin acylase in Escherichia coli.
Biotechnology progress | 2000-01-01 | PMID 10356260
Chou C P, Tseng J H, Kuo B Y and 3 more
A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation.
Molecular genetics and metabolism | 1999-06-01 | PMID 10356313
Bross P, Pedersen P, Winter V and 8 more
Biochemical phenotype and its relationship with genotype in hyperphenylalaninemia heterozygotes.
Molecular genetics and metabolism | 1999-06-01 | PMID 10356315
Mallolas J, Milà M, Lambruschini N and 3 more
Genes: PAH
Splicing variants in sheep CLN3, the gene underlying juvenile neuronal ceroid lipofuscinosis.
Molecular genetics and metabolism | 1999-06-01 | PMID 10356317
Oswald M J, Palmer D N, Damak S
Genes: CLN3, CLN6
Mechanism of DNA gyrase-mediated illegitimate recombination: characterization of Escherichia coli gyrA mutations that confer hyper-recombination phenotype.
Journal of molecular biology | 1999-06-11 | PMID 10356321
Ashizawa Y, Yokochi T, Ogata Y and 3 more
Group II intron reverse transcriptase in yeast mitochondria. Stabilization and regulation of reverse transcriptase activity by the intron RNA.
Journal of molecular biology | 1999-06-11 | PMID 10356323
Zimmerly S, Moran J V, Perlman P S and 1 more
A newly identified, essential catalytic residue in a critical secondary structure element in the integrase family of site-specific recombinases is conserved in a similar element in eucaryotic type IB topoisomerases.
Journal of molecular biology | 1999-06-11 | PMID 10356326
Cao Y, Hayes F
Engineered mutants in the switch II loop of Ran define the contribution made by key residues to the interaction with nuclear transport factor 2 (NTF2) and the role of this interaction in nuclear protein import.
Journal of molecular biology | 1999-06-11 | PMID 10356329
Kent H M, Moore M S, Quimby B B and 5 more
Backbone dynamics and energetics of a calmodulin domain mutant exchanging between closed and open conformations.
Journal of molecular biology | 1999-06-11 | PMID 10356332
Evenäs J, Forsén S, Malmendal A and 1 more
Partially formed native tertiary interactions in the A-state of cytochrome c.
Journal of molecular biology | 1999-06-11 | PMID 10356334
Hostetter D R, Weatherly G T, Beasley J R and 9 more
Expression of a Y559F mutant CSF-1 receptor in M1 myeloid cells: a role for Src kinases in CSF-1 receptor-mediated differentiation.
Molecular cell biology research communications : MCBRC | 1999-05-01 | PMID 10356364
Marks D C, Csar X F, Wilson N J and 5 more
Genes: STAT3
Genetics of mouse behavior: interactions with laboratory environment.
Science (New York, N.Y.) | 1999-06-04 | PMID 10356397
Crabbe J C, Wahlsten D, Dudek B C
The interaction of p62 with RIP links the atypical PKCs to NF-kappaB activation.
The EMBO journal | 1999-06-01 | PMID 10356400
Sanz L, Sanchez P, Lallena M J and 2 more
Genes: TNF, TRADD, TRAF2
Treatment of nonpsychotic relatives of patients with schizophrenia: four case studies.
Biological psychiatry | 1999-06-01 | PMID 10356622
Tsuang M T, Stone W S, Seidman L J and 5 more
[The efficacy and outlook for the study of live vaccines for the prevention of melioidosis].
Zhurnal mikrobiologii, epidemiologii i immunobiologii | 2000-01-01 | PMID 10356737
Iliukhin V I, Kislichkin N N, Merinova L K and 4 more
Density of deer in relation to the prevalence of Borrelia burgdorferi s.l. in Ixodes ricinus nymphs in Rambouillet forest, France.
Experimental & applied acarology | 1999-03-01 | PMID 10356769
Pichon B, Mousson L, Figureau C and 2 more
Inquiries on intraspousal transmission of hepatitis C virus: benefits and limitations of genome sequencing and phylogenetic analysis.
Forensic science international | 1999-03-15 | PMID 10356774
Ross R S, Viazov S, Varenholz C and 1 more
Genetic variation at six STR loci (HUMTH01, HUMTPOX, HUMCSF1PO, HUMF13A01, HUMFES/FPS, HUMVWFA31) in Aragon (north Spain).
Forensic science international | 1999-03-15 | PMID 10356775
Martinez Jarreta B, Diaz Roche P, Abecia E
Population distribution of six PCR-amplified loci in Madeira Archipelago (Portugal).
Forensic science international | 1999-03-15 | PMID 10356776
Corte-Real F, Souto L, Anjos M J and 4 more
Genes: FGA
Polygalacturonase and polygalacturonase inhibitor protein: gene isolation and transcription in Glycine max-Heterodera glycines interactions.
Molecular plant-microbe interactions : MPMI | 1999-06-01 | PMID 10356800
Mahalingam R, Wang G, Knap H T
Genes: CAPS
Selective peroxisome degradation in Yarrowia lipolytica after a shift of cells from acetate/oleate/ethylamine into glucose/ammonium sulfate-containing media.
FEBS letters | 1999-05-14 | PMID 10356972
Gunkel K, van der Klei I J, Barth G and 1 more
Transgenic animals in Alzheimer's disease research.
Reviews in the neurosciences | 1999-01-01 | PMID 10356989
Sturchler-Pierrat C, Sommer B
Genes: APP
Naturally occurring scrapie in Southdown sheep.
Journal of veterinary internal medicine | 2000-01-01 | PMID 10357111
Tyler J W, Weaver D M, Turk J R and 4 more
Isolation and identification of lactobacilli from novel-type probiotic and mild yoghurts and their stability during refrigerated storage.
International journal of food microbiology | 1999-03-01 | PMID 10357276
Schillinger U
Malignant fibrous histiocytoma of the pancreas: a case report with genetic analysis.
Cancer | 1999-06-01 | PMID 10357405
Bastian D, Ramaswamy A, Barth P J and 3 more
Olfactory associative learning in Caenorhabditis elegans is impaired in lrn-1 and lrn-2 mutants.
Behavioral neuroscience | 1999-04-01 | PMID 10357460
Morrison G E, Wen J Y, Runciman S and 1 more
Increased risk for fetal loss in carriers of the factor V Leiden mutation.
Annals of internal medicine | 1999-05-04 | PMID 10357692
Meinardi J R, Middeldorp S, de Kam P J and 6 more
Expression of CYP1A1 and CYP1B1 depends on cell-specific factors in human breast cancer cell lines: role of estrogen receptor status.
Carcinogenesis | 1999-06-01 | PMID 10357772
Angus W G, Larsen M C, Jefcoate C R
Genes: ARNT
The p53 tumor suppressor gene of the marsupial Monodelphis domestica: cloning of exons 4-11 and mutations in exons 5-8 in ultraviolet radiation-induced corneal sarcomas.
Carcinogenesis | 1999-06-01 | PMID 10357774
Kusewitt D F, Sherburn T E, Miska K B and 3 more
Strain differences of rats in the susceptibility to aberrant crypt foci formation by 2-amino-1-methyl-6-phenylimidazo- [4,5-b]pyridine: no implication of Apc and Pla2g2a genetic polymorphisms in differential susceptibility.
Carcinogenesis | 1999-06-01 | PMID 10357789
Ishiguro Y, Ochiai M, Sugimura T and 2 more
Familial gastric cancer: clinicopathological characteristics, RER phenotype and germline p53 and E-cadherin mutations.
Carcinogenesis | 1999-06-01 | PMID 10357799
Shinmura K, Kohno T, Takahashi M and 8 more