Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency.
Annals of neurology | 1999-08-01 | PMID 10443880
Tiranti V, Jaksch M, Hofmann S and 10 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 1187 of 10600
Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects.
Annals of neurology | 1999-08-01 | PMID 10443888
Parchi P, Giese A, Capellari S and 15 more
Genes: PRNP
Frequency of tau mutations in three series of non-Alzheimer's degenerative dementia.
Annals of neurology | 1999-08-01 | PMID 10443890
Houlden H, Baker M, Adamson J and 13 more
Meat, metabolic genotypes and risk for colorectal cancer.
European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) | 1999-07-01 | PMID 10443949
Roberts-Thomson I C, Butler W J, Ryan P
Genes: NAT1, NAT2
What is inherited in the predisposition toward alcoholism? A proposed model.
Alcoholism, clinical and experimental research | 1999-07-01 | PMID 10443977
Begleiter H, Porjesz B
Sex differences in the sources of genetic liability to alcohol abuse and dependence in a population-based sample of U.S. twins.
Alcoholism, clinical and experimental research | 1999-07-01 | PMID 10443978
Prescott C A, Aggen S H, Kendler K S
Chlordiazepoxide-induced expression of c-Fos in the central extended amygdala and other brain regions of the C57BL/6J and DBA/2J inbred mouse strains: relationships to mechanisms of ethanol action.
Alcoholism, clinical and experimental research | 1999-07-01 | PMID 10443981
Hitzemann B, Hitzemann R
Association between drinking-related antisocial behavior and a polymorphism in the serotonin transporter gene in a Japanese population.
Alcoholism, clinical and experimental research | 1999-07-01 | PMID 10443997
Ishiguro H, Saito T, Akazawa S and 7 more
pH dependence of antibody: hapten association.
Molecular immunology | 1999-04-01 | PMID 10444003
Livesay D, Linthicum S, Subramaniam S
Quantitation of cytochrome P450 mRNAs in patients with suspected liver diseases as assessed by reverse transcriptase-polymerase chain reaction.
The Journal of laboratory and clinical medicine | 1999-08-01 | PMID 10444026
Finnström N, Bjelfman C, Thörn M and 2 more
Cdc25B and Cdc25C differ markedly in their properties as initiators of mitosis.
The Journal of cell biology | 1999-08-09 | PMID 10444066
Karlsson C, Katich S, Hagting A and 2 more
Cytoplasmic dynein is required for the nuclear attachment and migration of centrosomes during mitosis in Drosophila.
The Journal of cell biology | 1999-08-09 | PMID 10444068
Robinson J T, Wojcik E J, Sanders M A and 2 more
Myotactin, a novel hypodermal protein involved in muscle-cell adhesion in Caenorhabditis elegans.
The Journal of cell biology | 1999-08-09 | PMID 10444073
Hresko M C, Schriefer L A, Shrimankar P and 1 more
Hydrophobic protein synthesized in the pod endocarp adheres to the seed surface.
Plant physiology | 1999-08-01 | PMID 10444078
Gijzen M, Miller S S, Kuflu K and 2 more
Characterization of MdMADS2, a member of the SQUAMOSA subfamily of genes, in apple.
Plant physiology | 1999-08-01 | PMID 10444080
Sung S K, Yu G H, An G
Independent regulation of flowering by phytochrome B and gibberellins in Arabidopsis.
Plant physiology | 1999-08-01 | PMID 10444085
Blázquez M A, Weigel D
Common resistance mechanisms to deoxynucleoside analogues in variants of the human erythroleukaemic line K562.
British journal of haematology | 1999-07-01 | PMID 10444166
Dumontet C, Fabianowska-Majewska K, Mantincic D and 12 more
Identification of X-linked severe combined immunodeficiency by mutation analysis of blood and hair roots.
British journal of haematology | 1999-07-01 | PMID 10444186
Ting S S, Leigh D, Lindeman R and 1 more
Pseudohomozygosity for activated protein C resistance is a risk factor for venous thrombosis.
British journal of haematology | 1999-07-01 | PMID 10444192
Castaman G, Tosetto A, Ruggeri M and 1 more
Genes: APC
Contribution of the glycoprotein Ia 807TT, methylene tetrahydrofolate reductase 677TT and prothrombin 20210GA genotypes to prothrombotic risk among factor V 1691GA (Leiden) carriers.
British journal of haematology | 1999-07-01 | PMID 10444193
Hessner M J, Dinauer D M, Luhm R A and 3 more
Genes: MTHFR
Relevance of Fc gamma RIIIa-158V-F polymorphism to recurrence of adult periodontitis in Japanese patients.
Clinical and experimental immunology | 1999-08-01 | PMID 10444269
Sugita N, Yamamoto K, Kobayashi T and 5 more
Rheumatoid factors in primary Sjögren's syndrome (pSS) use diverse VH region genes, the majority of which show no evidence of somatic hypermutation.
Clinical and experimental immunology | 1999-08-01 | PMID 10444275
Elagib K E, Børretzen M, Jonsson R and 4 more
Intron 22 inversions in the Turkish haemophilia A patients: prevalence and haplotype analysis.
Haemophilia : the official journal of the World Federation of Hemophilia | 1999-05-01 | PMID 10444283
El-Maarri O, Kavakli K, Caglayan S H
Mutations of CTNS causing intermediate cystinosis.
Molecular genetics and metabolism | 1999-08-01 | PMID 10444339
Thoene J, Lemons R, Anikster Y and 7 more
Genes: CTNS
A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida.
Molecular genetics and metabolism | 1999-08-01 | PMID 10444342
Wilson A, Platt R, Wu Q and 5 more
Genes: MTHFR, MTRR
Methionine synthase: high-resolution mapping of the human gene and evaluation as a candidate locus for neural tube defects.
Molecular genetics and metabolism | 1999-08-01 | PMID 10444343
Brody L C, Baker P J, Chines P S and 7 more
Systemic infection following intravenous inoculation of mice with Candida albicans int1 mutant strains.
Molecular genetics and metabolism | 1999-08-01 | PMID 10444345
Bendel C M, Kinneberg K M, Jechorek R P and 4 more
Relation between plasma homocysteine concentration, the 844ins68 variant of the cystathionine beta-synthase gene, and pyridoxal-5'-phosphate concentration.
Molecular genetics and metabolism | 1999-08-01 | PMID 10444346
Tsai M Y, Yang F, Bignell M and 2 more
Genes: CBS, PML, CAD
BRCA1 mutations in familial ovarian cancer.
Molecular genetics and metabolism | 1999-08-01 | PMID 10444347
Lallas T A, Buekers T E, Buller R E
Genes: BRCA1
Enhanced mutational activity of Vkappa gene rearrangements in systemic lupus erythematosus.
Clinical immunology (Orlando, Fla.) | 1999-08-01 | PMID 10444363
Dörner T, Heimbächer C, Farner N L and 1 more
Functional changes in troponin T by a splice donor site mutation that causes hypertrophic cardiomyopathy.
The American journal of physiology | 1999-08-01 | PMID 10444398
Nakaura H, Morimoto S, Yanaga F and 4 more
Myocardial tumor necrosis factor-alpha secretion in hypertensive and heart failure-prone rats.
The American journal of physiology | 1999-08-01 | PMID 10444479
Bergman M R, Kao R H, McCune S A and 1 more
Genes: TNF
Analysis of genomic regions involved in regulation of the rabbit surfactant protein A gene in transgenic mice.
The American journal of physiology | 1999-08-01 | PMID 10444530
Alcorn J L, Hammer R E, Graves K R and 6 more
Ozone-induced acute lung injury: genetic analysis of F(2) mice generated from A/J and C57BL/6J strains.
The American journal of physiology | 1999-08-01 | PMID 10444532
Prows D R, Daly M J, Shertzer H G and 1 more
Localization of Bud2p, a GTPase-activating protein necessary for programming cell polarity in yeast to the presumptive bud site.
Genes & development | 1999-08-01 | PMID 10444589
Park H O, Sanson A, Herskowitz I
Loss of Daxx, a promiscuously interacting protein, results in extensive apoptosis in early mouse development.
Genes & development | 1999-08-01 | PMID 10444590
Michaelson J S, Bader D, Kuo F and 2 more
Pds1 and Esp1 control both anaphase and mitotic exit in normal cells and after DNA damage.
Genes & development | 1999-08-01 | PMID 10444592
Tinker-Kulberg R L, Morgan D O
Genes: APC
A cell-counting factor regulating structure size in Dictyostelium.
Genes & development | 1999-08-01 | PMID 10444594
Brock D A, Gomer R H
Allele-specific genetic interactions between Prp8 and RNA active site residues suggest a function for Prp8 at the catalytic core of the spliceosome.
Genes & development | 1999-08-01 | PMID 10444595
Collins C A, Guthrie C
Functional interactions of Prp8 with both splice sites at the spliceosomal catalytic center.
Genes & development | 1999-08-01 | PMID 10444596
Siatecka M, Reyes J L, Konarska M M
Uncoupling of the hnRNP Npl3p from mRNAs during the stress-induced block in mRNA export.
Genes & development | 1999-08-01 | PMID 10444597
Krebber H, Taura T, Lee M S and 1 more
Genes: NES, XPO1
A novel property of the RecA nucleoprotein filament: activation of double- stranded DNA for strand exchange in trans.
Genes & development | 1999-08-01 | PMID 10444598
Mazin A V, Kowalczykowski S C
The FAR1 locus encodes a novel nuclear protein specific to phytochrome A signaling.
Genes & development | 1999-08-01 | PMID 10444599
Hudson M, Ringli C, Boylan M T and 1 more
Genes: FAR1
Wnt pathway components orient a mitotic spindle in the early Caenorhabditis elegans embryo without requiring gene transcription in the responding cell.
Genes & development | 1999-08-01 | PMID 10444600
Schlesinger A, Shelton C A, Maloof J N and 2 more
Clonal diversity of Actinobacillus actinomycetemcomitans isolates from young adults with minimal periodontal disease.
Journal of periodontal research | 1999-05-01 | PMID 10444741
Macheleidt A, Müller H P, Eger T and 2 more
Is the coexistence of mutations in the genes of factor V and MTHFR a predisposing factor for massive skin necrosis due to loxoscelism?
Public health reviews | 1998-01-01 | PMID 10444964
Mandel Y, Grotto I, Gdalevich M and 4 more
Genes: MTHFR
Mitotic checkpoint inactivation fosters transformation in cells lacking the breast cancer susceptibility gene, Brca2.
Molecular cell | 1999-07-01 | PMID 10445022
Lee H, Trainer A H, Friedman L S and 4 more
Genes: BRCA2
SGT1 encodes an essential component of the yeast kinetochore assembly pathway and a novel subunit of the SCF ubiquitin ligase complex.
Molecular cell | 1999-07-01 | PMID 10445024
Kitagawa K, Skowyra D, Elledge S J and 2 more
A mechanism of AZT resistance: an increase in nucleotide-dependent primer unblocking by mutant HIV-1 reverse transcriptase.
Molecular cell | 1999-07-01 | PMID 10445025
Meyer P R, Matsuura S E, Mian A M and 2 more
An unusual eukaryotic protein phosphatase required for transcription by RNA polymerase II and CTD dephosphorylation in S. cerevisiae.
Molecular cell | 1999-07-01 | PMID 10445027
Kobor M S, Archambault J, Lester W and 8 more
A role for transcriptional repressors in targeting the yeast Swi/Snf complex.
Molecular cell | 1999-07-01 | PMID 10445029
Dimova D, Nackerdien Z, Furgeson S and 2 more
A novel histone acetyltransferase is an integral subunit of elongating RNA polymerase II holoenzyme.
Molecular cell | 1999-07-01 | PMID 10445034
Wittschieben B O, Otero G, de Bizemont T and 7 more
Genes: ELP3
Removal of multiple arginine-framed trafficking signals overcomes misprocessing of delta F508 CFTR present in most patients with cystic fibrosis.
Molecular cell | 1999-07-01 | PMID 10445036
Chang X B, Cui L, Hou Y X and 4 more
Genes: CFTR
Interaction of cystatin C variants with papain and human cathepsins B, H and L.
Journal of enzyme inhibition | 1999-01-01 | PMID 10445041
Cimerman N, Prebanda M T, Turk B and 3 more
Homology built model of acetylcholinesterase from Drosophila melanogaster.
Journal of enzyme inhibition | 1999-01-01 | PMID 10445043
Stojan J
Effects of TPA on dye transfer and dye leakage in fibroblasts transfected with a connexin 43 mutation at ser368.
Methods and findings in experimental and clinical pharmacology | 2000-01-01 | PMID 10445229
Liu T F, Johnson R G
Blood polymorphism in west African breeds of sheep.
Tropical animal health and production | 1999-06-01 | PMID 10445253
Missohou A, Nguyen T C, Sow R and 1 more
[The gene-enzyme system of alcohol dehydrogenase during genotype changes in Drosophila melanogaster].
Ukrainskii biokhimicheskii zhurnal (1978) | 2000-01-01 | PMID 10445261
Totskiĭ V N, Khaustova N D, Morgun S V and 1 more
A yolk protein mutant leads to defects in the secretion machinery of Drosophila melanogaster.
Tissue & cell | 1999-04-01 | PMID 10445299
Butterworth F M, Burde V S, Mauchline D and 1 more
Application of capillary nongel sieving electrophoresis for gene analysis.
Electrophoresis | 1999-07-01 | PMID 10445321
Shen Y, Xu Q, Han F and 6 more
Genes: PAH, DMD, FMR1, SRY
Naringenin and interindividual variability in interaction of coumarin with grapefruit juice.
Experimental and toxicologic pathology : official journal of the Gesellschaft fur Toxikologische Pathologie | 1999-07-01 | PMID 10445384
Bourian M, Runkel M, Krisp A and 3 more
Polymorphism of GSTM1 gene in patients with colorectal cancer and colonic polyps.
Experimental and toxicologic pathology : official journal of the Gesellschaft fur Toxikologische Pathologie | 1999-07-01 | PMID 10445390
Gawrońska-Szklarz B, Lubiński J, Kladny J and 5 more
Genes: GSTM1
p53 and p21/Waf1 protein expression and K-ras codon 12 mutation in carcinoma of the papilla of Vater.
The American journal of gastroenterology | 1999-08-01 | PMID 10445539
Zhao B, Kimura W, Futakawa N and 5 more
Hepatocellular mitochondrial alterations in patients with chronic hepatitis C: ultrastructural and biochemical findings.
The American journal of gastroenterology | 1999-08-01 | PMID 10445550
Barbaro G, Di Lorenzo G, Asti A and 5 more
Presence of multiple genotype-specific antibodies in patients with persistent infection with hepatitis C virus (HCV) of a single genotype: evidence for transient or occult superinfection with HCV of different genotypes.
The American journal of gastroenterology | 1999-08-01 | PMID 10445555
Toyoda H, Fukuda Y, Hayakawa T and 4 more
Respiratory epithelial ion transport in patients with disseminated bronchiectasis.
The European respiratory journal | 1999-06-01 | PMID 10445601
Danner I, Boisseau P, Chailleux E and 1 more
Increased frequency of cystic fibrosis deltaF508 mutation in bronchiectasis associated with rheumatoid arthritis.
The European respiratory journal | 1999-06-01 | PMID 10445602
Puéchal X, Fajac I, Bienvenu T and 5 more
Genes: CFTR
Severe alpha1-antitrypsin deficiency and pregnancy.
The European respiratory journal | 1999-06-01 | PMID 10445631
Dempsey O J, Godden D J, Martin P D and 1 more
Helicobacter pylori gastritis of the gastric cancer phenotype in relatives of gastric carcinoma patients.
European journal of gastroenterology & hepatology | 1999-07-01 | PMID 10445789
Meining A G, Bayerdörffer E, Stolte M
HIV type 1 genetic variability in the northern part of Cameroon.
AIDS research and human retroviruses | 1999-07-20 | PMID 10445806
Mboudjeka I, Zekeng L, Takehisa J and 5 more
Phenotypic analysis of CD8+ T lymphocytes in a cohort of HIV type 1-infected patients treated with saquinavir, ritonavir, and two nucleoside analogs for 1 year, and association with plasma HIV type 1 RNA.
AIDS research and human retroviruses | 1999-07-20 | PMID 10445808
Kaufmann G R, Zaunders J J, Cunningham P and 1 more
Beta1 integrin promotes but is not essential for metastasis of ras-myc transformed fibroblasts.
Oncogene | 1999-07-01 | PMID 10445848
Brakebusch C, Wennerberg K, Krell H W and 4 more
Low prevalence of the APC I1307K sequence in Jewish and non-Jewish patients with inflammatory bowel disease.
Oncogene | 1999-07-01 | PMID 10445854
Yin J, Harpaz N, Souza R F and 9 more
Genes: APC
Yeast ortholog of the Drosophila crooked neck protein promotes spliceosome assembly through stable U4/U6.U5 snRNP addition.
RNA (New York, N.Y.) | 1999-08-01 | PMID 10445879
Chung S, McLean M R, Rymond B C
Genes: TPR
Assessment of linkage disequilibrium by the decay of haplotype sharing, with application to fine-scale genetic mapping.
American journal of human genetics | 1999-09-01 | PMID 10445904
McPeek M S, Strahs A
Ecogenetics of Triatoma sordida and Triatoma guasayana (Hemiptera: reduviidae) in the Bolivian chaco.
Memorias do Instituto Oswaldo Cruz | 2000-01-01 | PMID 10446000
Noireau F, Gutierrez T, Flores R and 3 more
Requirement of circadian genes for cocaine sensitization in Drosophila.
Science (New York, N.Y.) | 1999-08-13 | PMID 10446052
Andretic R, Chaney S, Hirsh J
Control of the terminal step of intracellular membrane fusion by protein phosphatase 1.
Science (New York, N.Y.) | 1999-08-13 | PMID 10446058
Peters C, Andrews P D, Stark M J and 5 more
Genetic background determines the extent of atherosclerosis in ApoE-deficient mice.
Arteriosclerosis, thrombosis, and vascular biology | 1999-08-01 | PMID 10446078
Dansky H M, Charlton S A, Sikes J L and 7 more
Angiotensin-converting enzyme gene polymorphism and carotid wall thickening in a community population.
Arteriosclerosis, thrombosis, and vascular biology | 1999-08-01 | PMID 10446079
Hung J, McQuillan B M, Nidorf M and 2 more
Genes: ACE
Hepatic lipase (LIPC) promoter polymorphism in men with coronary artery disease. Allele frequency and effects on hepatic lipase activity and plasma HDL-C concentrations.
Arteriosclerosis, thrombosis, and vascular biology | 1999-08-01 | PMID 10446080
Shohet R V, Vega G L, Anwar A and 3 more
Genes: CAD, LIPC
Oral contraceptives highlight the genotype-specific association between serum phospholipids and activated factor VII.
Arteriosclerosis, thrombosis, and vascular biology | 1999-08-01 | PMID 10446088
Mariani G, Conard J, Bernardi F and 11 more
A genetic basis for atrophy: dominant non-responsiveness and helicobacter induced gastritis in F(1) hybrid mice.
Gut | 1999-09-01 | PMID 10446099
Sutton P, Wilson J, Genta R and 4 more
Increased prevalence of methylenetetrahydrofolate reductase C677T variant in patients with inflammatory bowel disease, and its clinical implications.
Gut | 1999-09-01 | PMID 10446107
Mahmud N, Molloy A, McPartlin J and 4 more
Genes: MTHFR
HLA-DR and -DQ phenotypes in inflammatory bowel disease: a meta-analysis.
Gut | 1999-09-01 | PMID 10446108
Stokkers P C, Reitsma P H, Tytgat G N and 1 more
Prevalence of non-organ-specific autoantibodies and chronic liver disease in the general population: a nested case-control study of the Dionysos cohort.
Gut | 1999-09-01 | PMID 10446115
Lenzi M, Bellentani S, Saccoccio G and 6 more
Identification of the human YVH1 protein-tyrosine phosphatase orthologue reveals a novel zinc binding domain essential for in vivo function.
The Journal of biological chemistry | 1999-08-20 | PMID 10446167
Muda M, Manning E R, Orth K and 1 more
Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia.
The Journal of biological chemistry | 1999-08-20 | PMID 10446171
McDowall S, Argentaro A, Ranganathan S and 5 more
Genes: SOX9
Functional expression of human PP2Ac in yeast permits the identification of novel C-terminal and dominant-negative mutant forms.
The Journal of biological chemistry | 1999-08-20 | PMID 10446173
Evans D R, Myles T, Hofsteenge J and 1 more
Deletion of type IIalpha regulatory subunit delocalizes protein kinase A in mouse sperm without affecting motility or fertilization.
The Journal of biological chemistry | 1999-08-20 | PMID 10446185
Burton K A, Treash-Osio B, Muller C H and 2 more
Factors affecting de novo methylation of foreign DNA in mouse embryonic stem cells.
The Journal of biological chemistry | 1999-08-20 | PMID 10446198
Hertz J M, Schell G, Doerfler W
Genes: BLK
Structural analysis of a mutational hot-spot in the EcoRV restriction endonuclease: a catalytic role for a main chain carbonyl group.
Nucleic acids research | 1999-09-01 | PMID 10446231
Thomas M P, Brady R L, Halford S E and 2 more
A conditional U5 snRNA mutation affecting pre-mRNA splicing and nuclear pre-mRNA retention identifies SSD1/SRK1 as a general splicing mutant suppressor.
Nucleic acids research | 1999-09-01 | PMID 10446233
Luukkonen B G, Séraphin B
Isolation of altered specificity mutants of the single-chain 434 repressor that recognize asymmetric DNA sequences containing the TTAA and TTAC subsites.
Nucleic acids research | 1999-09-01 | PMID 10446235
Simoncsits A, Tjörnhammar M L, Wang S and 1 more
A recessive mutation leading to vertebral ankylosis in zebrafish is associated with amino acid alterations in the homologue of the human membrane-associated guanylate kinase DLG3.
Mechanisms of development | 1999-08-01 | PMID 10446262
König C, Yan Y L, Postlethwait J and 2 more
Genes: DLG3
jumonji gene is essential for the neurulation and cardiac development of mouse embryos with a C3H/He background.
Mechanisms of development | 1999-08-01 | PMID 10446263
Takeuchi T, Kojima M, Nakajima K and 1 more
Inhibition of transforming growth factor-beta type II receptor signaling accelerates tooth formation in mouse first branchial arch explants.
Mechanisms of development | 1999-08-01 | PMID 10446266
Chai Y, Zhao J, Mogharei A and 4 more
Bone morphogenetic protein 1 regulates dorsal-ventral patterning in early Xenopus embryos by degrading chordin, a BMP4 antagonist.
Mechanisms of development | 1999-08-01 | PMID 10446267
Wardle F C, Welch J V, Dale L
Genes: BMP1, BMP4
Differential expression of the Drosophila zinc finger gene jim in the follicular epithelium.
Mechanisms of development | 1999-08-01 | PMID 10446279
Doerflinger H, Lepesant J A, Yanicostas C
Modification of the N-terminal polyserine cluster alters stability of the plasma membrane H(+)-ATPase from Saccharomyces cerevisiae.
Biochimica et biophysica acta | 1999-08-20 | PMID 10446304
Hasper A, Soteropoulos P, Perlin D S