Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.
Investigative ophthalmology & visual science | 2000-12-01 | PMID 11095629
Thompson D A, Gyürüs P, Fleischer L L and 9 more
Genes: RPE65
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 1442 of 10600
New rat model that phenotypically resembles autosomal recessive polycystic kidney disease.
Journal of the American Society of Nephrology : JASN | 2000-12-01 | PMID 11095650
Nauta Jeroen, Goedbloed Miriam A, Herck Harry VAN and 6 more
CF gene and cystic fibrosis transmembrane conductance regulator expression in autosomal dominant polycystic kidney disease.
Journal of the American Society of Nephrology : JASN | 2000-12-01 | PMID 11095651
Persu Alexandre, Devuyst Olivier, Lannoy Nathalie and 5 more
Genes: CFTR
Repair of oxidative DNA damage in Drosophila melanogaster: identification and characterization of dOgg1, a second DNA glycosylase activity for 8-hydroxyguanine and formamidopyrimidines.
Nucleic acids research | 2000-12-01 | PMID 11095666
Dherin C, Dizdaroglu M, Doerflinger H and 2 more
Genes: OGG1
Intact MutY and its catalytic domain differentially contact with A/8-oxoG-containing DNA.
Nucleic acids research | 2000-12-01 | PMID 11095667
Li X, Lu A L
Cloning and characterization of the Schizosaccharomyces pombe tRNA:pseudouridine synthase Pus1p.
Nucleic acids research | 2000-12-01 | PMID 11095668
Hellmuth K, Grosjean H, Motorin Y and 3 more
Genes: PUS1
The NAD-dependent ligase encoded by yerG is an essential gene of Bacillus subtilis.
Nucleic acids research | 2000-12-01 | PMID 11095673
Petit M A, Ehrlich S D
Alteration of gene conversion tract length and associated crossing over during plasmid gap repair in nuclease-deficient strains of Saccharomyces cerevisiae.
Nucleic acids research | 2000-12-01 | PMID 11095674
Symington L S, Kang L E, Moreau S
Nucleotide-sequence-specific and non-specific interactions of T4 DNA polymerase with its own mRNA.
Nucleic acids research | 2000-12-01 | PMID 11095675
Pavlov A R, Karam J D
Fission yeast retrotransposon Tf1 integration is targeted to 5' ends of open reading frames.
Nucleic acids research | 2000-12-01 | PMID 11095681
Behrens R, Hayles J, Nurse P
Sequestration of specific tRNA species cognate to the last sense codon of an overproduced gratuitous protein.
Nucleic acids research | 2000-12-01 | PMID 11095683
Menez J, Heurgué-Hamard V, Buckingham R H
Telomere-binding and Stn1p-interacting activities are required for the essential function of Saccharomyces cerevisiae Cdc13p.
Nucleic acids research | 2000-12-01 | PMID 11095684
Wang M J, Lin Y C, Pang T L and 3 more
Cis-acting influences on Alu RNA levels.
Nucleic acids research | 2000-12-01 | PMID 11095687
Alemán C, Roy-Engel A M, Shaikh T H and 1 more
A Ku80 fragment with dominant negative activity imparts a radiosensitive phenotype to CHO-K1 cells.
Nucleic acids research | 2000-12-01 | PMID 11095690
Marangoni E, Foray N, O'Driscoll M and 4 more
Essential regions of the tRNA primer required for HIV-1 infectivity.
Nucleic acids research | 2000-12-01 | PMID 11095691
Yu Q, Morrow C D
DNA binding and transcription activation by chicken interferon regulatory factor-3 (chIRF-3).
Nucleic acids research | 2000-12-01 | PMID 11095692
Grant C E, May D L, Deeley R G
Differential processing of UV mimetic and interstrand crosslink damage by XPF cell extracts.
Nucleic acids research | 2000-12-01 | PMID 11095693
Zhang N, Zhang X, Peterson C and 2 more
Genes: ERCC1
Full flexibility genotyping of single nucleotide polymorphisms by the GOOD assay.
Nucleic acids research | 2000-12-01 | PMID 11095696
Sauer S, Lechner D, Berlin K and 4 more
Glucose depletion causes haploid invasive growth in yeast.
Proceedings of the National Academy of Sciences of the United States of America | 2000-12-05 | PMID 11095711
Cullen P J, Sprague G F
Drug-resistant Drosophila indicate glutamate-gated chloride channels are targets for the antiparasitics nodulisporic acid and ivermectin.
Proceedings of the National Academy of Sciences of the United States of America | 2000-12-05 | PMID 11095718
Kane N S, Hirschberg B, Qian S and 11 more
Coevolution of transcriptional and allosteric regulation at the chorismate metabolic branch point of Saccharomyces cerevisiae.
Proceedings of the National Academy of Sciences of the United States of America | 2000-12-05 | PMID 11095720
Krappmann S, Lipscomb W N, Braus G H
Predicting durability of a disease resistance gene based on an assessment of the fitness loss and epidemiological consequences of avirulence gene mutation.
Proceedings of the National Academy of Sciences of the United States of America | 2000-12-05 | PMID 11095723
Vera Cruz C M, Bai J, Ona I and 4 more
Mutation of a BRCT domain selectively disrupts DNA single-strand break repair in noncycling Chinese hamster ovary cells.
Proceedings of the National Academy of Sciences of the United States of America | 2000-12-05 | PMID 11095742
Moore D J, Taylor R M, Clements P and 1 more
Genes: XRCC1
Haploinsufficiency of Snf5 (integrase interactor 1) predisposes to malignant rhabdoid tumors in mice.
Proceedings of the National Academy of Sciences of the United States of America | 2000-12-05 | PMID 11095756
Roberts C W, Galusha S A, McMenamin M E and 2 more
Triggering the ExoS regulon of Pseudomonas aeruginosa: A GFP-reporter analysis of exoenzyme (Exo) S, ExoT and ExoU synthesis.
Microbial pathogenesis | 2000-12-01 | PMID 11095918
Hornef M W, Roggenkamp A, Geiger A M and 3 more
Molecular characterization of a Siglec8 variant containing cytoplasmic tyrosine-based motifs, and mapping of the Siglec8 gene.
Biochemical and biophysical research communications | 2000-11-30 | PMID 11095983
Foussias G, Yousef G M, Diamandis E P
Lactase haplotype diversity in the Old World.
American journal of human genetics | 2001-01-01 | PMID 11095994
Hollox E J, Poulter M, Zvarik M and 6 more
A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency.
American journal of human genetics | 2001-01-01 | PMID 11095995
Reiss J, Gross-Hardt S, Christensen E and 3 more
Genes: MOCS1, MOCS2
Cardiovascular infection by Chlamydia pneumoniae is not related to apolipoprotein E genotype.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America | 2000-12-01 | PMID 11096027
Gieffers J, Solbach W, Maass M
Genetic polymorphism in paraoxonase is a risk factor for childhood focal segmental glomerulosclerosis.
American journal of kidney diseases : the official journal of the National Kidney Foundation | 2000-12-01 | PMID 11096050
Frishberg Y, Toledano H, Becker-Cohen R and 2 more
Genes: PON1
Genetic evidence that lethality in angiotensinogen-deficient mice is due to loss of systemic but not renal angiotensinogen.
The Journal of biological chemistry | 2001-03-09 | PMID 11096065
Ding Y, Stec D E, Sigmund C D
Genes: AGT
Control of cardiac-specific transcription by p300 through myocyte enhancer factor-2D.
The Journal of biological chemistry | 2001-03-09 | PMID 11096067
Slepak T I, Webster K A, Zang J and 4 more
Genes: SRF, TEF
The plant isoflavenoid genistein activates p53 and Chk2 in an ATM-dependent manner.
The Journal of biological chemistry | 2001-02-16 | PMID 11096068
Ye R, Bodero A, Zhou B B and 3 more
Genes: ATM
Amino acid residues in the PSI domain and cysteine-rich repeats of the integrin beta2 subunit that restrain activation of the integrin alpha(X)beta(2).
The Journal of biological chemistry | 2001-03-09 | PMID 11096074
Zang Q, Springer T A
Tryptophan- and dileucine-based endocytosis signals in the neonatal Fc receptor.
The Journal of biological chemistry | 2001-02-16 | PMID 11096078
Wu Z, Simister N E
Aromatic hydrocarbon receptor (AhR).AhR nuclear translocator- and p53-mediated induction of the murine multidrug resistance mdr1 gene by 3-methylcholanthrene and benzo(a)pyrene in hepatoma cells.
The Journal of biological chemistry | 2001-02-16 | PMID 11096091
Mathieu M C, Lapierre I, Brault K and 1 more
Liporegulation in diet-induced obesity. The antisteatotic role of hyperleptinemia.
The Journal of biological chemistry | 2001-02-23 | PMID 11096093
Lee Y, Wang M Y, Kakuma T and 6 more
Rvs161p and Rvs167p, the two yeast amphiphysin homologs, function together in vivo.
The Journal of biological chemistry | 2001-02-23 | PMID 11096097
Lombardi R, Riezman H
A single histidine residue determines the pH sensitivity of the pacemaker channel HCN2.
The Journal of biological chemistry | 2001-03-02 | PMID 11096117
Zong X, Stieber J, Ludwig A and 2 more
Genes: HCN2
The fission yeast TOR homolog, tor1+, is required for the response to starvation and other stresses via a conserved serine.
The Journal of biological chemistry | 2001-03-09 | PMID 11096119
Weisman R, Choder M
Angiotensinogen M235T and chymase gene CMA/B polymorphisms are not associated with nephropathy in type II diabetes.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association | 2000-12-01 | PMID 11096141
Zychma M J, Zukowska-Szczechowska E, Lacka B I and 1 more
Lack of relationship in long-term type 1 diabetic patients between diabetic nephropathy and polymorphisms in apolipoprotein epsilon, lipoprotein lipase and cholesteryl ester transfer protein. Genétique de la Nephropathie Diabétique Study Group. Données Epidémiologiques sur le Syndrome d'Insulino-Résistance Study Group.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association | 2000-12-01 | PMID 11096142
Hadjadj S, Gallois Y, Simard G and 6 more
Genes: CETP, LPL
Long-term study of a female hyper-IgM immunodeficiency.
Experimental and clinical immunogenetics | 2000-01-01 | PMID 11096255
Kaneko H, Fukao T, Inoue R and 3 more
Lack of association between CD28/CTLA-4 gene polymorphisms and atopic asthma in the Japanese population.
Experimental and clinical immunogenetics | 2000-01-01 | PMID 11096256
Nakao F, Ihara K, Ahmed S and 5 more
Characteristics of HLA class I and class II polymorphisms in Rwandan women.
Experimental and clinical immunogenetics | 2000-01-01 | PMID 11096257
Tang J, Naik E, Costello C and 4 more
TAP1 and TAP2 polymorphism in Spanish patients with ankylosing spondylitis.
Experimental and clinical immunogenetics | 2000-01-01 | PMID 11096258
Fraile A, Collado M D, Matarán L and 2 more
Genes: TAP2, TAP1
The mouse (Mus musculus) T cell receptor beta variable (TRBV), diversity (TRBD) and joining (TRBJ) genes.
Experimental and clinical immunogenetics | 2000-01-01 | PMID 11096260
Bosc N, Lefranc M P
C677T methylenetetrahydrofolate reductase polymorphism is not a risk factor for pre-eclampsia/eclampsia among Australian women.
Human heredity | 2001-01-01 | PMID 11096266
Kaiser T, Brennecke S P, Moses E K
Genes: MTHFR
The C677T mutation of the methylenetetrahydrofolate reductase gene is not associated with the risk of coronary artery disease or venous thrombosis among Chinese in Taiwan.
Human heredity | 2001-01-01 | PMID 11096270
Hsu L A, Ko Y L, Wang S M and 4 more
Genes: CAD, MTHFR
Association tests for traits with variable age at onset.
Human heredity | 2001-01-01 | PMID 11096271
Mokliatchouk O, Blacker D, Rabinowitz D
Haplotype evolution and linkage disequilibrium: A simulation study.
Human heredity | 2001-01-01 | PMID 11096275
Calafell F, Grigorenko E L, Chikanian A A and 1 more
Genetic diversity in an Andean population from Peru and regional migration patterns of Amerindians in South America: data from Y chromosome and mitochondrial DNA.
Human heredity | 2001-01-01 | PMID 11096276
Rodriguez-Delfin L A, Rubin-de-Celis V E, Zago M A
Genetic linkage analysis of prostate cancer families to Xq27-28.
Human heredity | 2001-01-01 | PMID 11096277
Peters M A, Jarvik G P, Janer M and 9 more
Association between minihaplotypes and mutations at the PAH locus in Polish hyperphenylalaninemic patients.
Human heredity | 2001-01-01 | PMID 11096279
Zekanowski C, Jurkowska M, Bal J
Genes: PAH
Association study of apolipoprotein E epsilon4 with clinical phenotype and clozapine response in schizophrenia.
Neuropsychobiology | 2000-01-01 | PMID 11096331
Hong C J, Yu Y W, Lin C H and 4 more
Genes: APOE
Interaction between haemochromatosis and transferrin receptor genes in hepatocellular carcinoma.
Oncology | 2000-11-01 | PMID 11096344
Beckman L E, Hägerstrand I, Stenling R and 2 more
Genes: HFE
Abrogation of G(2)/M-phase block enhances the cytotoxicity of daunorubicin, melphalan and cisplatin in TP53 mutant human tumor cells.
Radiation research | 2000-12-01 | PMID 11096420
Binder A B, Serafin A M, Bohm L J
Correlation between the clonogenic initial slope and the response of polykaryon-forming units: the behavior of strains defective in XRCC5 and ATM and the heritability of small variations in radioresponse.
Radiation research | 2000-12-01 | PMID 11096421
Manti L, Davies H E, Venables S and 2 more
Genes: XRCC5, ATM
Self-selection by genetically modified committed lymphocyte precursors reverses the phenotype of JAK3-deficient mice without myeloablation.
Human gene therapy | 2000-11-20 | PMID 11096440
Bunting K D, Lu T, Kelly P F and 1 more
Genes: JAK3
Expansion and characterization of T cells transduced with a chimeric receptor against ovarian cancer.
Human gene therapy | 2000-11-20 | PMID 11096442
Parker L L, Do M T, Westwood J A and 4 more
Different subcellular localizations for the related interferon-induced GTPases, MuGBP-1 and MuGBP-2: implications for different functions?
Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research | 2000-11-01 | PMID 11096456
Vestal D J, Gorbacheva V Y, Sen G C
New phenolic antioxidants of PYA and PYE class increase the resistance S. cerevisiae strain SP4, its SOD- and catalase-deficient mutants to lipophilic oxidants.
Folia microbiologica | 1999-01-01 | PMID 11097024
Krasowska A, Oświecimska M, Pasternak A and 3 more
Characterization of strain HSZP of herpes simplex virus type 1 (HSV1).
Folia microbiologica | 1999-01-01 | PMID 11097032
Rajcáni J, Kúdelová M, Oravcová I and 3 more
Fetal and placental traits at day 35 of pregnancy in relation to the estrogen receptor genotype in pigs.
Theriogenology | 2000-10-01 | PMID 11097039
van Rens B T, van der Lende T
The genetic epidemiology of parental discipline.
Psychological medicine | 2000-11-01 | PMID 11097071
Wade T D, Kendler K S
Genetic and environmental influences on juvenile antisocial behaviour assessed on two occasions.
Psychological medicine | 2000-11-01 | PMID 11097072
Jacobson K C, Prescott C A, Kendler K S
Impulsiveness, serotonin genes and repetition of deliberate self-harm (DSH).
Psychological medicine | 2000-11-01 | PMID 11097073
Evans J, Reeves B, Platt H and 4 more
Personality traits among currently eating disordered, recovered and never ill first-degree female relatives of bulimic and control women.
Psychological medicine | 2000-11-01 | PMID 11097080
Lilenfeld L R, Stein D, Bulik C M and 7 more
Personality traits of the relatives of autistic probands.
Psychological medicine | 2000-11-01 | PMID 11097081
Murphy M, Bolton P F, Pickles A and 3 more
New polymorphisms in the human poly(ADP-ribose) polymerase-1 coding sequence: lack of association with longevity or with increased cellular poly(ADP-ribosyl)ation capacity.
Journal of molecular medicine (Berlin, Germany) | 2000-01-01 | PMID 11097112
Cottet F, Blanché H, Verasdonck P and 4 more
Identification of thromboxane synthase amino acid residues involved in heme-propionate binding.
Archives of biochemistry and biophysics | 2000-11-01 | PMID 11097184
Hsu P Y, Tsai A L, Wang L H
Major histocompatibility complex class II polymorphisms and risk of cervical cancer and human papillomavirus infection in Brazilian women.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2000-11-01 | PMID 11097225
Maciag P C, Schlecht N F, Souza P S and 3 more
Factors associated with decisions about clinical BRCA1/2 testing.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2000-11-01 | PMID 11097234
Armstrong K, Calzone K, Stopfer J and 3 more
Genes: BRCA1, BRCA2
A preliminary evaluation of intra- and interindividual variations of hOGG1 messenger RNA levels in peripheral blood cells as determined by a real-time polymerase chain reaction technique.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2000-11-01 | PMID 11097235
Hanaoka T, Yamano Y, Hashimoto H and 2 more
Presence of apolipoprotein E epsilon4 allele in cerebral palsy.
Journal of pediatric orthopedics | 2000-01-01 | PMID 11097255
Meirelles Kalil Pessoa de Barr, Rodrigues C J, de Barros T E and 1 more
Susceptibility of high and low producer dairy goats to single experimental infection with Trichostrongylus colubriformis.
Parasitology research | 2000-11-01 | PMID 11097293
Etter E, Hoste H, Chartier C and 4 more
Idiosyncratic reactions to drugs: can medicine response profiles provide a dynamic drug surveillance system?
Clinical chemistry and laboratory medicine | 2000-09-01 | PMID 11097333
Roses A D
Hunting for disease genes in multi-functional diseases.
Clinical chemistry and laboratory medicine | 2000-09-01 | PMID 11097334
Pang C P, Baum L, Lam D S
Genes: MYOC
Apolipoprotein E polymorphisms and concentration in chronic diseases and drug responses.
Clinical chemistry and laboratory medicine | 2000-09-01 | PMID 11097338
Siest G, Bertrand P, Herbeth B and 4 more
Angiotensin I-converting enzyme gene polymorphism and drug response.
Clinical chemistry and laboratory medicine | 2000-09-01 | PMID 11097339
Baudin B
Genes: ACE
Drug-metabolizing enzymes, polymorphisms and interindividual response to environmental toxicants.
Clinical chemistry and laboratory medicine | 2000-09-01 | PMID 11097340
Nebert D W
How to manage individualized drug therapy: application of pharmacogenetic knowledge of drug metabolism and transport.
Clinical chemistry and laboratory medicine | 2000-09-01 | PMID 11097342
Meisel C, Roots I, Cascorbi I and 2 more
Polymorphisms in UDP glucuronosyltransferase genes: functional consequences and clinical relevance.
Clinical chemistry and laboratory medicine | 2000-09-01 | PMID 11097345
Mackenzie P I, Miners J O, McKinnon R A
Ethnic differences in drug metabolism.
Clinical chemistry and laboratory medicine | 2000-09-01 | PMID 11097347
Zhou H H, Liu Z Q
Hypervariable region 1 of hepatitis C virus genome and response to interferon therapy.
Clinical chemistry and laboratory medicine | 2000-09-01 | PMID 11097348
Grahovac B, Bingulac-Popović J, Vucelić B and 5 more
Influence of glutathione S-transferase M1 and T1 genotypes on larynx cancer risk among Korean smokers.
Clinical chemistry and laboratory medicine | 2000-09-01 | PMID 11097350
Hong Y J, Lee J K, Lee G H and 1 more
Genes: GSTM1, GSTT1
CYP2D6 genotyping in patients on psychoactive drug therapy.
Clinical chemistry and laboratory medicine | 2000-09-01 | PMID 11097351
Topić E, Stefanović M, Ivanisević A M and 3 more
Genotyping of CYP2D6 in Parkinson's disease.
Clinical chemistry and laboratory medicine | 2000-09-01 | PMID 11097352
Stefanović M, Topić E, Ivanisević A M and 2 more
Y chromosome microdeletion screening in infertile men.
Journal of endocrinological investigation | 2000-11-01 | PMID 11097431
Maurer B, Simoni M
The cystic fibrosis transmembrane regulator gene and male infertility.
Journal of endocrinological investigation | 2000-11-01 | PMID 11097434
Quinzii C, Castellani C
Genes: CFTR
Isolation, characterization and biological significance of hepatitis B virus mutants from serum of a patient with immunologically negative HBV infection.
Journal of hepatology | 2000-11-01 | PMID 11097490
Schories M, Peters T, Rasenack J
Low cell binding ability of HCV is closely related to interferon treatment especially in patients with HCV genotype 2a/2b. A large series prospective study on Japanese patients with chronic hepatitis C.
Journal of hepatology | 2000-11-01 | PMID 11097492
Kimura Y, Hayashida K, Yanagi Y and 3 more
TNF-alpha induced p21(WAF1) but not Bax in colon cancer cells WiDr with mutated p53: important role of protein stabilization.
Cytokine | 2000-12-01 | PMID 11097743
Kobayashi N, Takada Y, Hachiya M and 3 more
Genes: TNF
Natural killer cells activate human dermal fibroblasts.
Cytokine | 2000-12-01 | PMID 11097744
Müller K M, Bickel M, Wiesmann U N and 1 more
Tumour necrosis factor-alpha gene polymorphism: implications in kidney transplantation.
Cytokine | 2000-12-01 | PMID 11097747
Poli F, Boschiero L, Giannoni F and 4 more
Genes: TNF
The genetic basis of infertility in men.
Bailliere's best practice & research. Clinical endocrinology & metabolism | 2000-09-01 | PMID 11097781
Bhasin S, Mallidis C, Ma K
Aluminum forms in drinking water and risk of Alzheimer's disease.
Environmental research | 2000-11-01 | PMID 11097797
Gauthier E, Fortier I, Courchesne F and 3 more
Gain-of-function mutations associated with hereditary pancreatitis enhance autoactivation of human cationic trypsinogen.
Biochemical and biophysical research communications | 2000-11-19 | PMID 11097832
Sahin-Tóth M, Tóth M
Diabetes and tumor formation in transgenic mice expressing Reg I.
Biochemical and biophysical research communications | 2000-11-19 | PMID 11097844
Yamaoka T, Yoshino K, Yamada T and 6 more
Generation of tension by skinned fibers and intact skeletal muscles from desmin-deficient mice.
Biochemical and biophysical research communications | 2000-11-19 | PMID 11097852
Wieneke S, Stehle R, Li Z and 1 more
Genes: DES