The KMDB/MutationView: a mutation database for human disease genes.
Nucleic acids research | 2001-01-01 | PMID 11125127
Minoshima S, Mitsuyama S, Ohtsubo M and 5 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.
Semantic proximity supports literature exploration. It does not establish scientific or clinical evidence.
Publications
Page 1456 of 10600
Collecting and harvesting biological data: the GPCRDB and NucleaRDB information systems.
Nucleic acids research | 2001-01-01 | PMID 11125133
Horn F, Vriend G, Cohen F E
Identification of HE1 as the second gene of Niemann-Pick C disease.
Science (New York, N.Y.) | 2000-12-22 | PMID 11125141
Naureckiene S, Sleat D E, Lackland H and 5 more
Evidence for genetic linkage of Alzheimer's disease to chromosome 10q.
Science (New York, N.Y.) | 2000-12-22 | PMID 11125142
Bertram L, Blacker D, Mullin K and 10 more
Genes: IDE
Linkage of plasma Abeta42 to a quantitative locus on chromosome 10 in late-onset Alzheimer's disease pedigrees.
Science (New York, N.Y.) | 2000-12-22 | PMID 11125143
Ertekin-Taner N, Graff-Radford N, Younkin L H and 7 more
Susceptibility locus for Alzheimer's disease on chromosome 10.
Science (New York, N.Y.) | 2000-12-22 | PMID 11125144
Myers A, Holmans P, Marshall H and 22 more
Genes: APOE
The distinct disease phenotypes of the common and yellow vein strains of Tomato golden mosaic virus are determined by nucleotide differences in the 3'-terminal region of the gene encoding the movement protein.
The Journal of general virology | 2001-01-01 | PMID 11125157
Saunders Keith, Wege Christina, Veluthambi Karuppannan and 2 more
Genetic variability among group A and B respiratory syncytial viruses in Mozambique: identification of a new cluster of group B isolates.
The Journal of general virology | 2001-01-01 | PMID 11125163
Roca Anna, Loscertales Mari-Paz, Quintó Llorenç and 4 more
Zinc-binding properties of Junín virus nucleocapsid protein.
The Journal of general virology | 2001-01-01 | PMID 11125165
Tortorici M Alejandra, Ghiringhelli P Daniel, Lozano Mario E and 2 more
Variation of African horsesickness virus nonstructural protein NS3 in southern Africa.
The Journal of general virology | 2001-01-01 | PMID 11125168
van Niekerk M, van Staden V, van Dijk A A and 1 more
The VP1-unique region of parvovirus B19: amino acid variability and antigenic stability.
The Journal of general virology | 2001-01-01 | PMID 11125172
Dorsch Simone, Kaufmann Bärbel, Schaible Uwe and 3 more
Role of the cytoplasmic tails of pseudorabies virus glycoproteins B, E and M in intracellular localization and virion incorporation.
The Journal of general virology | 2001-01-01 | PMID 11125174
Nixdorf Ralf, Klupp Barbara G, Mettenleiter Thomas C
Responder characteristics to a single oral dose of cholinesterase inhibitor: a double-blind placebo-controlled study with tacrine in Alzheimer patients.
Dementia and geriatric cognitive disorders | 2000-01-01 | PMID 11125238
Almkvist O, Jelic V, Amberla K and 3 more
Genes: APOE
Prevalence of colour blindness in young Jordanians.
Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde | 2000-01-01 | PMID 11125268
Al-Aqtum M T, Al-Qawasmeh M H
Rare somatic p53 mutation identified in breast cancer: a case report.
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine | 2000-01-01 | PMID 11125276
Smardová J, Nemajerová A, Trbusek M and 2 more
Expression and mutation of p53 in tumor effusion cells of patients with ovarian carcinoma: response to cisplatin-based chemotherapy.
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine | 2000-01-01 | PMID 11125280
Bar J K, Harłozińska A, Popiela A and 1 more
Supra-additive cytotoxic effects of a combination of cytostatic drugs and antibody-induced complement activation on tumor cells in vitro.
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine | 2000-01-01 | PMID 11125282
Brezicka T, Einbeigi Z
Mutational analysis of the beta-catenin gene in gastric carcinomas.
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine | 2000-01-01 | PMID 11125285
Sasaki Y, Morimoto I, Kusano M and 5 more
Genes: APC
Delleman syndrome: report of a case with a mild phenotype.
European journal of dermatology : EJD | 2000-12-01 | PMID 11125327
Cambiaghi S, Levet P S, Guala G and 2 more
Congenital anomalies of the kidney and urinary tract--role of the loss of function mutation in the pluripotent angiotensin type 2 receptor gene.
The Journal of urology | 2001-01-01 | PMID 11125405
Pope J C, Brock J W, Adams M C and 3 more
Neo-self antigens and the expansion of B-1 cells: lessons from atherosclerosis-prone mice.
Current topics in microbiology and immunology | 2000-01-01 | PMID 11125476
Silverman G J, Shaw P X, Luo L and 6 more
[Identification of an introduced bovine herpesvirus type 1 strain in a closed dairy herd by experimental virus reactivation followed by DNA restriction enzyme analysis].
Tijdschrift voor diergeneeskunde | 2000-12-01 | PMID 11125609
van der Poel W H, Rijsewijk F A, Meijer F A and 1 more
Relationship between oxidative stress and apoE phenotype in Alzheimer's disease.
Acta neurologica Scandinavica | 2000-12-01 | PMID 11125747
Ihara Y, Hayabara T, Sasaki K and 3 more
The butyrylcholinesterase K variant is a protective factor for sporadic Alzheimer's disease in women.
Acta neurologica Scandinavica | 2000-12-01 | PMID 11125748
Alvarez-Arcaya A, Combarros O, Llorca J and 4 more
Genes: BCHE, APOE
Implications of genetic epidemiology for the prevention of substance use disorders.
Addictive behaviors | 2000-01-01 | PMID 11125772
Merikangas K R, Avenevoli S
Current and future clinical trials for Alzheimer's disease: evolving ethical concerns.
Progress in neuro-psychopharmacology & biological psychiatry | 2000-11-01 | PMID 11125851
Issa A M, Keyserlingk E W
Frequency and site-dependent variations in vibration detection thresholds on the face.
Somatosensory & motor research | 2000-01-01 | PMID 11125878
James A, Essick G K, Kelly D G and 2 more
Chemokine RANTES promoter polymorphism affects risk of both HIV infection and disease progression in the Multicenter AIDS Cohort Study.
AIDS (London, England) | 2000-12-01 | PMID 11125885
McDermott D H, Beecroft M J, Kleeberger C A and 8 more
Genes: CCR5
Lactose intolerance: diagnosis and management.
Comprehensive therapy | 2000-01-01 | PMID 11126094
Patel Y T, Minocha A
Presenilin 2 mutation does not influence expression and concentration of APP forms in human platelets.
Molecular medicine (Cambridge, Mass.) | 2000-10-01 | PMID 11126197
Pastorino L, Colciaghi F, Marcon G and 5 more
Genes: APP
Induction of skin fibrosis in mice expressing a mutated fibrillin-1 gene.
Molecular medicine (Cambridge, Mass.) | 2000-10-01 | PMID 11126198
Saito S, Nishimura H, Phelps R G and 4 more
Lean male high- and low-fat phenotypes--different routes for achieving energy balance.
International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity | 2000-12-01 | PMID 11126206
Cooling J, Blundell J E
A-ZIP/F-1 mice lacking white fat: a model for understanding lipoatrophic diabetes.
International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity | 2000-11-01 | PMID 11126232
Reitman M L, Gavrilova O
Prothrombin gene G20210A mutation and elevated anticardiolipin antibodies in a patient with combined portal-mesenteric vein thrombosis.
Intensive care medicine | 2000-10-01 | PMID 11126275
Friederich P, Putensen C, Stüber F
Genome scan for adiposity in Dutch dyslipidemic families reveals novel quantitative trait loci for leptin, body mass index and soluble tumor necrosis factor receptor superfamily 1A.
International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity | 2000-11-01 | PMID 11126332
van der Kallen C J, Cantor R M, van Greevenbroek M M and 8 more
Genes: LEPR
Tumor-associated Apc mutations in Mlh1-/- Apc1638N mice reveal a mutational signature of Mlh1 deficiency.
Oncogene | 2000-11-23 | PMID 11126362
Kuraguchi M, Edelmann W, Yang K and 3 more
Reduced ligation during DNA base excision repair supported by BRCA2 mutant cells.
Oncogene | 2000-11-23 | PMID 11126365
Bogliolo M, Taylor R M, Caldecott K W and 1 more
Genes: BRCA2, BRCA1, PCNA
Homologous recombination as a potential target for caffeine radiosensitization in mammalian cells: reduced caffeine radiosensitization in XRCC2 and XRCC3 mutants.
Oncogene | 2000-11-23 | PMID 11126366
Asaad N A, Zeng Z C, Guan J and 2 more
Genes: XRCC2, XRCC3, ATM, RAD51
Dopamine D4 receptor (DRD4) gene polymorphism is associated with attachment disorganization in infants.
Molecular psychiatry | 2000-11-01 | PMID 11126393
Lakatos K, Toth I, Nemoda Z and 3 more
Genes: DRD4
A genome-wide autosomal screen for schizophrenia susceptibility loci in 71 families with affected siblings: support for loci on chromosome 10p and 6.
Molecular psychiatry | 2000-11-01 | PMID 11126394
Schwab S G, Hallmayer J, Albus M and 12 more
Genes: NPL
Genetic heterogeneity in schizophrenia: stratification of genome scan data using co-segregating related phenotypes.
Molecular psychiatry | 2000-11-01 | PMID 11126395
Pulver A E, Mulle J, Nestadt G and 11 more
Genes: NPL
Tumor necrosis factor receptor-II: heritability and effect on brain morphology in schizophrenia.
Molecular psychiatry | 2000-11-01 | PMID 11126399
Wassink T H, Crowe R R, Andreasen N C
Genes: TNF
Severe hypertriglyceridaemia in Type II diabetes: involvement of apoC-III Sst-I polymorphism, LPL mutations and apo E3 deficiency.
Diabetologia | 2000-11-01 | PMID 11126401
Marçais C, Bernard S, Merlin M and 6 more
Genes: LPL
Differences in HDL-cholesterol:apoA-I + apoA-II ratio and apoE phenotype with albuminuric status in Type I diabetic patients.
Diabetologia | 2000-11-01 | PMID 11126402
Soedamah-Muthu S S, Colhoun H M, Taskinen M R and 2 more
An uncoupling protein 3 gene polymorphism associated with a lower risk of developing Type II diabetes and with atherogenic lipid profile in a French cohort.
Diabetologia | 2000-11-01 | PMID 11126413
Meirhaeghe A, Amouyel P, Helbecque N and 4 more
Genes: UCP3, UCP2
Genetic variability of Triatoma brasiliensis (Hemiptera: Reduviidae) populations.
Journal of medical entomology | 2000-11-01 | PMID 11126543
Borges E C, Dujardin J P, Schofield C J and 2 more
Genetic and morphological variation in three snow pool Aedes mosquito species of the subgenus Ochlerotatus (Diptera: Culicidae).
Journal of medical entomology | 2000-11-01 | PMID 11126548
Gimnig J E
Phylogenetic analysis of a retroposon family as represented on the human X chromosome.
Genes & genetic systems | 2000-08-01 | PMID 11126568
Kim H S, Hyun B H, Choi J Y and 1 more
[Thulium laser evoked potentials. Normative values for the arms and legs].
Neurophysiologie clinique = Clinical neurophysiology | 2000-10-01 | PMID 11126643
Devos D, Creac'h C, Laureau E and 2 more
[Clinical findings and genetic bases of congenital complement deficiencies].
Nihon Rinsho Men'eki Gakkai kaishi = Japanese journal of clinical immunology | 1999-04-01 | PMID 11126655
Kira R, Ihara K, Takada H and 1 more
[Centromere separation and malignancy].
Orvosi hetilap | 2000-11-12 | PMID 11126679
Méhes K
Pharmacogenetics: role in modifying drug dosage regimens.
Annals of the Academy of Medicine, Singapore | 2000-09-01 | PMID 11126699
Mah J T, Wong J Y, Lee E J
Inferring microevolutionary patterns from allele-size frequency distributions of minisatellite loci: a worldwide study of the APOB 3' hypervariable region polymorphism.
Human biology | 2000-10-01 | PMID 11126722
Destro-Bisol G, Capelli C, Belledi M
Genes: APOB
Phylogenetic relationships of human populations in sub-Saharan Africa.
Human biology | 2000-10-01 | PMID 11126723
Weber W, Nash D J, Motulsky A G and 7 more
Human skin color diversity is highest in sub-Saharan African populations.
Human biology | 2000-10-01 | PMID 11126724
Relethford J H
Major gene effect on body mass index: the role of energy intake and energy expenditure.
Human biology | 2000-10-01 | PMID 11126725
Feitosa M F, Rice T, Nirmala A and 1 more
Apolipoprotein A polymorphisms and plasma lipoprotein(a) concentrations in non-Hispanic Whites and Hispanics.
Human biology | 2000-10-01 | PMID 11126727
Chiu L, Hamman R F, Kamboh M I
Polyomavirus JC genotypes in an urban United States population reflect the history of African origin and genetic admixture in modern African Americans.
Human biology | 2000-10-01 | PMID 11126728
Chima S C, Ryschkewitsch C F, Fan K J and 1 more
Identical marker alleles in Podolic cattle (Bos taurus) and Indian zebu (Bos indicus).
Comparative biochemistry and physiology. Part B, Biochemistry & molecular biology | 2000-09-01 | PMID 11126744
Pieragostini E, Scaloni A, Rullo R and 1 more
Mutations affecting the expression of the MOX gene encoding peroxisomal methanol oxidase in Hansenula polymorpha.
Current genetics | 2000-11-01 | PMID 11126774
Vallini V, Berardi E, Strabbioli R
Dominant suppressor mutation bypasses the sphingolipid requirement for growth of Saccharomyces cells at low pH: role of the CWP2 gene.
Current genetics | 2000-11-01 | PMID 11126778
Skrzypek M, Lester R L, Spielmann P and 3 more
Phenotypes of alpha 1 antitrypsin in Karachi, Pakistan.
JPMA. The Journal of the Pakistan Medical Association | 2000-11-01 | PMID 11126813
Shahid A, Siddiqui A A, Zuberi S J and 1 more
[Mitochondrial encephalomyelitis, lactic acidosis and cerebrovascular accidents (MELAS) in pediatric age with the A3243G mutation in the tRNALeu(UUR) gene of mitochondrial DNA].
Revista de neurologia | 2000-01-01 | PMID 11127079
Coelho-Miranda L, Playan A, Artuch R and 11 more
The protective effect of hormone-replacement therapy on fracture risk is modulated by estrogen receptor alpha genotype in early postmenopausal women.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research | 2000-12-01 | PMID 11127213
Salmén T, Heikkinen A M, Mahonen A and 5 more
ACP Best Practice No 163. Wilson's disease: acute and presymptomatic laboratory diagnosis and monitoring.
Journal of clinical pathology | 2000-11-01 | PMID 11127261
Gaffney D, Fell G S, O'Reilly D S
Pathogenesis of non-familial colorectal carcinomas with high microsatellite instability.
Journal of clinical pathology | 2000-11-01 | PMID 11127266
Shitoh K, Konishi F, Miyaki M and 4 more
Genes: APC
Molecular evolution, distribution and genetic relationship among the dengue 2 viruses isolated from different clinical severity.
The Southeast Asian journal of tropical medicine and public health | 2000-06-01 | PMID 11127324
Pandey B D, Morita K, Hasebe F and 2 more
Human immunodeficiency virus type 1 subtypes among Malaysian intravenous drug users.
The Southeast Asian journal of tropical medicine and public health | 2000-06-01 | PMID 11127327
Saraswathy T S, Ng K P, Sinniah M
Childhood all blasts retain phenotypic and genotypic characteristics upon long-term serial passage in NOD/SCID mice.
Pediatric hematology and oncology | 2000-12-01 | PMID 11127395
Borgmann A, Baldy C, von Stackelberg A and 4 more
Thrombin generation in children with acute lymphoblastic leukemia: effect of leukemia immunophenotypic subgroups.
Pediatric hematology and oncology | 2000-12-01 | PMID 11127398
Giordano P, Del Vecchio G C, Santoro N and 6 more
Genes: TAT
Individual variability in the zinc inducibility of metallothionein-IIA mRNA in human lymphocytes.
Journal of toxicology and environmental health. Part A | 2000-12-15 | PMID 11127411
Wu M T, Demple B, Bennett R A and 3 more
Recessively inherited amyotrophic lateral sclerosis: a Germany family with the D90A CuZn-SOD mutation.
Journal of neurology | 2000-10-01 | PMID 11127534
Winter S M, Claus A, Oberwittler C and 3 more
Genes: SOD1
Parkinson's disease, smoking, and family history. EUROPARKINSON Study Group.
Journal of neurology | 2000-10-01 | PMID 11127536
Elbaz A, Manubens-Bertran J M, Baldereschi M and 7 more
Analysis of KIT mutation and protein expression in fine needle aspirates of gastrointestinal stromal/smooth muscle tumors.
Acta cytologica | 2000-01-01 | PMID 11127756
Li S Q, O'Leary T J, Sobin L H and 3 more
Genes: KIT
Prospects for the prevention and control of pseudomonal infection in children with cystic fibrosis.
Paediatric drugs | 2000-01-01 | PMID 11127845
Høiby N
Extended anticoagulation for prevention of recurrent venous thromboembolism in carriers of factor V Leiden--cost-effectiveness analysis.
Thrombosis and haemostasis | 2000-11-01 | PMID 11127850
Marchetti M, Pistorio A, Barosi G
The VITA Project: heritability of resistance to activated protein C. Vincenza Thrombophilia and Arteriosclerosis.
Thrombosis and haemostasis | 2000-11-01 | PMID 11127861
Tosetto A, Castaman G, Cappellari A and 1 more
Genes: APC
The HR2 haplotype of factor V is not associated with the risk of myocardial infarction.
Thrombosis and haemostasis | 2000-11-01 | PMID 11127862
Doggen C J, de Visser M C, Vos H L and 3 more
Molecular genetic analysis of factor XI deficiency: identification of five novel gene alterations and the origin of type II mutation in Portuguese families.
Thrombosis and haemostasis | 2000-11-01 | PMID 11127865
Ventura C, Santos A I, Tavares A and 4 more
Effect of stabilizing versus destabilizing interactions on plasminogen activator inhibitor-1.
Thrombosis and haemostasis | 2000-11-01 | PMID 11127870
Vleugels N, Leys J, Knockaert I and 1 more
Comparative analyses for adaptive radiations.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences | 2000-11-29 | PMID 11127905
Harvey P H, Rambaut A
Problems with primate sex ratios.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences | 2000-11-29 | PMID 11127909
Packer C, Collins D A, Eberly L E
Allele age and a test for selection on rare alleles.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences | 2000-11-29 | PMID 11127913
Slatkin M
Genes: BRCA1
The evolution of replicators.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences | 2000-11-29 | PMID 11127914
Szathmáry E
Experimental evolution recapitulates natural evolution.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences | 2000-11-29 | PMID 11127915
Wichman H A, Scott L A, Yarber C D and 1 more
Bombesin-like peptides: studies on food intake and social behaviour with receptor knock-out mice.
Annals of medicine | 2000-11-01 | PMID 11127929
Yamada K, Wada E, Wada K
Genes: GRP, NMB
Hereditary tyrosinaemia type I: from basics to progress in treatment.
Annals of medicine | 2000-11-01 | PMID 11127930
Pitkänen S T, Salo M K, Heikinheimo M
Genes: FAH
Lipoprotein lipase genetic variation and gender-specific ischemic cerebrovascular disease risk.
Nutrition reviews | 2000-10-01 | PMID 11127970
Ordovas J M
Resolution of Lyme arthritis, acute or prolonged: a new look.
Inflammation | 2000-12-01 | PMID 11128048
Malawista S E
Emergence of new influenza A viruses which carry an escape mutation of the HLA-B27-restricted CTL epitope of NP in Japan.
Microbiology and immunology | 2000-01-01 | PMID 11128072
Kashiwagi T, Hamada N, Iwahashi J and 4 more
St 14 (DX S52) VNTR polymorphism in the Indian population and its application in carrier detection and prenatal diagnosis of haemophilia A families.
Haematologia | 2000-01-01 | PMID 11128113
Shetty S, Ghosh K, Mohanty D
Acceleration of reverse cholesterol transport.
Current opinion in cardiology | 2000-09-01 | PMID 11128188
von Eckardstein A, Nofer J R, Assmann G
pH homeostasis of the circadian sporulation rhythm in clock mutants of Neurospora crassa.
Chronobiology international | 2000-11-01 | PMID 11128290
Ruoff P, Behzadi A, Hauglid M and 2 more
Linkage of the dopamine D4 receptor gene and attention-deficit/hyperactivity disorder.
Journal of the American Academy of Child and Adolescent Psychiatry | 2000-12-01 | PMID 11128331
Sunohara G A, Roberts W, Malone M and 10 more
Risk of nephropathy can be detected before the onset of microalbuminuria during the early years after diagnosis of type 1 diabetes.
Diabetes care | 2000-12-01 | PMID 11128358
Schultz C J, Neil H A, Dalton R N and 1 more
Genes: ACR
Genetic differences among host-associated populations of water mites (Acari: Unionicolidae: Unionicola): allozyme variation supports morphological differentiation.
The Journal of parasitology | 2000-10-01 | PMID 11128472
Edwards D D, Labhart M
Genetic difference in susceptibility and fatality of three strains of mice experimentally infected with Neodiplostomum seoulense.
The Journal of parasitology | 2000-10-01 | PMID 11128496
Chai J Y, Shin E H, Han E T and 3 more
Strain typing of Toxoplasma gondii: comparison of antigen-coding and housekeeping genes.
The Journal of parasitology | 2000-10-01 | PMID 11128519
Lehmann T, Blackston C R, Parmley S F and 2 more
dTcf antagonises Wingless signalling during the development and patterning of the wing in Drosophila.
The International journal of developmental biology | 2000-10-01 | PMID 11128568
Lawrence N, Dearden P, Hartley D and 3 more
Multiple stage-dependent roles for histone deacetylases during amphibian embryogenesis: implications for the involvement of extracellular matrix remodeling.
The International journal of developmental biology | 2000-10-01 | PMID 11128570
Damjanovski S, Sachs L M, Shi Y B