Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease.
Human molecular genetics | 1996-10-01 | PMID 8894696
Pagani F, Garcia R, Pariyarath R and 4 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 774 of 10600
The toxic milk mouse is a murine model of Wilson disease.
Human molecular genetics | 1996-10-01 | PMID 8894697
Theophilos M B, Cox D W, Mercer J F
The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma.
Human molecular genetics | 1996-10-01 | PMID 8894704
Valverde P, Healy E, Sikkink S and 5 more
Susceptibility locus for inflammatory bowel disease on chromosome 16 has a role in Crohn's disease, but not in ulcerative colitis.
Human molecular genetics | 1996-10-01 | PMID 8894707
Ohmen J D, Yang H Y, Yamamoto K K and 10 more
Analysis of immunodominant piroplasm surface antigen alleles in mixed populations of Theileria sergenti and T. buffeli.
International journal for parasitology | 1996-07-01 | PMID 8894765
Kubota S, Sugimoto C, Kakuda T and 1 more
Growth of Lucilia cuprina larvae following treatment of sheep divergently selected for fleece rot and fly strike with monoclonal antibodies to T lymphocyte subsets and interferon gamma.
International journal for parasitology | 1996-07-01 | PMID 8894769
Colditz I G, Eisemann C H, Tellam R L and 3 more
Camurati-Engelmann disease presenting as 'juvenile otosclerosis'.
International journal of pediatric otorhinolaryngology | 1996-10-01 | PMID 8894811
Huygen P L, Cremers C W, Verhagen W I and 1 more
Twin children with unfamiliar partners: genotypic and gender influences on cooperation.
Journal of child psychology and psychiatry, and allied disciplines | 1996-09-01 | PMID 8894954
Segal N L, Connelly S L, Topoloski T D
Ca2+ influx activated by low pH in Chlamydomonas.
The Journal of general physiology | 1996-10-01 | PMID 8894983
Quarmby L M
Frequency of HLA antigens in Graves' hyperthyroidism and mitral valve prolapse.
The Journal of heart valve disease | 1996-09-01 | PMID 8894996
Kontopoulos A, Harsoulis P, Adam K and 3 more
Genes: MVP
The quantitative humoral immune response to the hepatitis C virus is correlated with disease activity and response to interferon-alpha.
Journal of hepatology | 1996-09-01 | PMID 8895007
Löhr H F, Elste C, Dienes H P and 4 more
Serum HCV RNA levels assessed by quantitative NASBA: stability of viral load over time, and lack of correlation with liver disease. The Trent HCV Study Group.
Journal of hepatology | 1996-09-01 | PMID 8895008
Hollingsworth R C, Sillekens P, van Deursen P and 2 more
Impact of various handling and storage conditions on quantitative detection of hepatitis C virus RNA.
Journal of hepatology | 1996-09-01 | PMID 8895009
Halfon P, Khiri H, Gerolami V and 5 more
Sequence heterogeneity within the 5'-terminal region of the hepatitis GB virus C genome and evidence for genotypes.
Journal of hepatology | 1996-09-01 | PMID 8895018
Muerhoff A S, Simons J N, Leary T P and 6 more
Association of specific amino acid sequence of HLA-DR with rheumatoid arthritis in Koreans and its diagnostic value.
The Journal of rheumatology | 1996-10-01 | PMID 8895143
Hong G H, Park M H, Takeuchi F and 6 more
Phenotypic correction of dwarfism by constitutive expression of growth hormone.
Endocrinology | 1996-11-01 | PMID 8895372
Hahn T M, Copeland K C, Woo S L
Rcho-1 trophoblast cell placental lactogens: complementary deoxyribonucleic acids, heterologous expression, and biological activities.
Endocrinology | 1996-11-01 | PMID 8895376
Dai G, Imagawa W, Liu B and 4 more
Genes: PRL
Parathyroid hormone-related peptide delays terminal differentiation of chondrocytes during endochondral bone development.
Endocrinology | 1996-11-01 | PMID 8895385
Lee K, Lanske B, Karaplis A C and 5 more
Genes: PTH
Mapping of a gene for Parkinson's disease to chromosome 4q21-q23.
Science (New York, N.Y.) | 1996-11-15 | PMID 8895469
Polymeropoulos M H, Higgins J J, Golbe L I and 10 more
Identification of BIME as a subunit of the anaphase-promoting complex.
Science (New York, N.Y.) | 1996-11-15 | PMID 8895470
Peters J M, King R W, Höög C and 1 more
Genes: APC, CDC16, CDC23, CDC27
High mutation frequencies among Escherichia coli and Salmonella pathogens.
Science (New York, N.Y.) | 1996-11-15 | PMID 8895473
LeClerc J E, Li B, Payne W L and 1 more
Influence of a mutation reducing the catalytic activity of the cytochrome P450 CYP2D6 on lung cancer susceptibility.
Carcinogenesis | 1996-10-01 | PMID 8895499
Legrand M, Stucker I, Marez D and 3 more
Identification of the Par2 (Pulmonary adenoma resistance) locus on mouse chromosome 18, a major genetic determinant for lung carcinogen resistance in BALB/cByJ mice.
Oncogene | 1996-10-17 | PMID 8895504
Obata M, Nishimori H, Ogawa K and 1 more
The role of p53 in the induction of polyploidity of myelomonocytic leukemic M1/2 cells.
Oncogene | 1996-10-17 | PMID 8895513
Peled A, Schwartz D, Elkind N B and 3 more
Characterization of the imprinted IPW gene: allelic expression in normal and tumorigenic human tissues.
Oncogene | 1996-10-17 | PMID 8895514
Rachmilewitz J, Elkin M, Looijenga L H and 6 more
Genes: IGF2
mdm2 deletion does not alter growth characteristics of p53-deficient embryo fibroblasts.
Oncogene | 1996-10-17 | PMID 8895519
McMasters K M, Montes de Oca Luna R, Peña J R and 1 more
Genes: MDM2
Allelic loss on chromosome 7q in ovarian adenocarcinomas: two critical regions and a rearrangement of the PLANH1 locus.
Oncogene | 1996-10-17 | PMID 8895529
Kerr J, Leary J A, Hurst T and 7 more
Allele-specific PCR analysis of p53 codon 249 AGT transversion in liver tissues from patients with viral hepatitis.
International journal of cancer | 1996-09-27 | PMID 8895534
Kirby G M, Batist G, Fotouhi-Ardakani N and 5 more
Genes: AGT
Chromosomal findings and p53-mutation analysis in chromophilic renal-cell carcinomas.
International journal of cancer | 1996-09-27 | PMID 8895539
Dijkhuizen T, Van den Berg E, Van den Berg A and 4 more
Interferons induce normal and aberrant retinoic-acid receptors type alpha in acute promyelocytic leukemia cells: potentiation of the induction of retinoid-dependent differentiation markers.
International journal of cancer | 1996-09-27 | PMID 8895544
Gianní M, Zanotta S, Terao M and 2 more
Genes: PML
The mechanism of protein splicing and its modulation by mutation.
The EMBO journal | 1996-10-01 | PMID 8895558
Xu M Q, Perler F B
Site-directed mutagenesis and structural interpretation of the nidogen binding site of the laminin gamma1 chain.
The EMBO journal | 1996-10-01 | PMID 8895559
Pöschl E, Mayer U, Stetefeld J and 4 more
The Aspergillus FlbA RGS domain protein antagonizes G protein signaling to block proliferation and allow development.
The EMBO journal | 1996-10-01 | PMID 8895563
Yu J H, Wieser J, Adams T H
Status of YopM and YopN in the Yersinia Yop virulon: YopM of Y.enterocolitica is internalized inside the cytosol of PU5-1.8 macrophages by the YopB, D, N delivery apparatus.
The EMBO journal | 1996-10-01 | PMID 8895564
Boland A, Sory M P, Iriarte M and 3 more
In vivo membrane assembly of the E.coli polytopic protein, melibiose permease, occurs via a Sec-independent process which requires the protonmotive force.
The EMBO journal | 1996-10-01 | PMID 8895565
Bassilana M, Gwizdek C
Targeting of signal sequenceless proteins for export in Escherichia coli with altered protein translocase.
The EMBO journal | 1996-10-01 | PMID 8895566
Prinz W A, Spiess C, Ehrmann M and 2 more
The tyrosine-based lysosomal targeting signal in lamp-1 mediates sorting into Golgi-derived clathrin-coated vesicles.
The EMBO journal | 1996-10-01 | PMID 8895568
Höning S, Griffith J, Geuze H J and 1 more
Human palmitoyl protein thioesterase: evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis.
The EMBO journal | 1996-10-01 | PMID 8895569
Hellsten E, Vesa J, Olkkonen V M and 2 more
The role of proteolysis in cell cycle progression in Schizosaccharomyces pombe.
The EMBO journal | 1996-10-01 | PMID 8895572
Yamano H, Gannon J, Hunt T
Oncoprotein 18 is a phosphorylation-responsive regulator of microtubule dynamics.
The EMBO journal | 1996-10-01 | PMID 8895574
Marklund U, Larsson N, Gradin H M and 2 more
Mutation of a Src phosphorylation site in the PDGF beta-receptor leads to increased PDGF-stimulated chemotaxis but decreased mitogenesis.
The EMBO journal | 1996-10-01 | PMID 8895575
Hansen K, Johnell M, Siegbahn A and 5 more
N-WASP, a novel actin-depolymerizing protein, regulates the cortical cytoskeletal rearrangement in a PIP2-dependent manner downstream of tyrosine kinases.
The EMBO journal | 1996-10-01 | PMID 8895577
Miki H, Miura K, Takenawa T
Genes: EGF
Zinc finger-mediated protein interactions modulate Ikaros activity, a molecular control of lymphocyte development.
The EMBO journal | 1996-10-01 | PMID 8895580
Sun L, Liu A, Georgopoulos K
Hoxb-2 transcriptional activation in rhombomeres 3 and 5 requires an evolutionarily conserved cis-acting element in addition to the Krox-20 binding site.
The EMBO journal | 1996-10-01 | PMID 8895582
Vesque C, Maconochie M, Nonchev S and 4 more
A nuclear role for the Fragile X mental retardation protein.
The EMBO journal | 1996-10-01 | PMID 8895584
Fridell R A, Benson R E, Hua J and 2 more
Genes: NES, FMR1
Novel exploitation of a nuclear function by influenza virus: the cellular SF2/ASF splicing factor controls the amount of the essential viral M2 ion channel protein in infected cells.
The EMBO journal | 1996-10-01 | PMID 8895585
Shih S R, Krug R M
Cis-element, oriR, involved in the initiation of (-) strand poliovirus RNA: a quasi-globular multi-domain RNA structure maintained by tertiary ('kissing') interactions.
The EMBO journal | 1996-10-01 | PMID 8895586
Pilipenko E V, Poperechny K V, Maslova S V and 3 more
The yeast protein Arc1p binds to tRNA and functions as a cofactor for the methionyl- and glutamyl-tRNA synthetases.
The EMBO journal | 1996-10-01 | PMID 8895587
Simos G, Segref A, Fasiolo F and 4 more
Influence of DNA geometry on transcriptional activation in Escherichia coli.
The EMBO journal | 1996-10-01 | PMID 8895588
Déthiollaz S, Eichenberger P, Geiselmann J
Genes: CRP
Genetic analysis of the Müllerian-inhibiting substance signal transduction pathway in mammalian sexual differentiation.
Genes & development | 1996-10-15 | PMID 8895659
Mishina Y, Rey R, Finegold M J and 4 more
Targeted disruption of an essential vertebrate gene: ASF/SF2 is required for cell viability.
Genes & development | 1996-10-15 | PMID 8895660
Wang J, Takagaki Y, Manley J L
Prognostic significance of the p53 mutation in esophageal cancer.
Japanese journal of clinical oncology | 1996-10-01 | PMID 8895666
Uchino S, Saito T, Inomata M and 4 more
Molecular-pathological analysis of a patient with three synchronous squamous cell carcinomas in the aerodigestive tract.
Japanese journal of clinical oncology | 1996-10-01 | PMID 8895679
Hayashi T, Sagawa H, Kobuke K and 3 more
A very large villous adenoma with an adjacent cancer of the rectum: an informative case for testing the proposed molecular basis of colorectal tumorigenesis.
Japanese journal of clinical oncology | 1996-10-01 | PMID 8895682
Kanaoka S, Hanai H, Kaneko E and 3 more
Genes: APC
A mutation in the transforming growth factor beta type II receptor gene promoter associated with loss of gene expression.
Cancer research | 1996-11-01 | PMID 8895728
Muñoz-Antonia T, Li X, Reiss M and 2 more
Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes.
Cancer research | 1996-11-01 | PMID 8895729
Thibodeau S N, French A J, Roche P C and 9 more
Somatic mutations of the RET proto-oncogene are not required for tumor development in multiple endocrine neoplasia type 2 (MEN 2) gene carriers.
Cancer research | 1996-11-01 | PMID 8895732
Landsvater R M, de Wit M J, Zewald R A and 5 more
Genes: RET
A methylenetetrahydrofolate reductase polymorphism and the risk of colorectal cancer.
Cancer research | 1996-11-01 | PMID 8895734
Chen J, Giovannucci E, Kelsey K and 6 more
Genes: MTHFR
Progression of prostatic intraepithelial neoplasia to invasive carcinoma in C3(1)/SV40 large T antigen transgenic mice: histopathological and molecular biological alterations.
Cancer research | 1996-11-01 | PMID 8895741
Shibata M A, Ward J M, Devor D E and 2 more
Circulating anti-p53 antibodies in esophageal cancer patients are found predominantly in individuals with p53 core domain mutations in their tumors.
Cancer research | 1996-11-01 | PMID 8895744
von Brevern M C, Hollstein M C, Cawley H M and 8 more
Alterations in H-ras1 promoter conformation during N-nitroso-N-methylurea-induced mammary carcinogenesis and pregnancy.
Cancer research | 1996-11-01 | PMID 8895746
Jin Z, Houle B, Mikheev A M and 2 more
Genes: NMU
A C4887A polymorphism in exon 7 of human CYP1A1: population frequency, mutation linkages, and impact on lung cancer susceptibility.
Cancer research | 1996-11-01 | PMID 8895751
Cascorbi I, Brockmöller J, Roots I
Loss of the p16INK4a and p15INK4b genes, as well as neighboring 9p21 markers, in sporadic melanoma.
Cancer research | 1996-11-01 | PMID 8895759
Flores J F, Walker G J, Glendening J M and 11 more
Resistance to glucocorticoid-induced apoptosis in human T-cell acute lymphoblastic leukemia CEM-C1 cells is due to insufficient glucocorticoid receptor expression.
Cancer research | 1996-11-01 | PMID 8895760
Geley S, Hartmann B L, Hala M and 3 more
Evidence for two tumor suppressor loci associated with proximal chromosome 9p to q and distal chromosome 9q in bladder cancer and the initial screening for GAS1 and PTC mutations.
Cancer research | 1996-11-01 | PMID 8895761
Simoneau A R, Spruck C H, Gonzalez-Zulueta M and 7 more
Genes: GAS1, GSN
A common mutant epidermal growth factor receptor confers enhanced tumorigenicity on human glioblastoma cells by increasing proliferation and reducing apoptosis.
Cancer research | 1996-11-01 | PMID 8895767
Nagane M, Coufal F, Lin H and 3 more
Genes: EGFR
Behavioral and neurochemical dysfunction in the circling (ci) rat: a novel genetic animal model of a movement disorder.
Neuroscience | 1996-10-01 | PMID 8895881
Löscher W, Richter A, Nikkhah G and 3 more
Strategy for distinguishing a new DQB1 allele (DQB1*0611) from the closely related DQB1*0602 allele via sequence specific PCR or direct DNA sequencing.
Tissue antigens | 1996-09-01 | PMID 8896171
Williams T M, Bassinger S, Moehlenkamp C and 7 more
HLA-DPA1 typing by PCR amplification with sequence-specific primers (PCR-SSP) and distribution of DPA1 alleles in Caucasian, African and Oriental populations.
Tissue antigens | 1996-09-01 | PMID 8896173
Aldener-Cannavá A, Olerup O
Stable inheritance of an HLA-"blank" phenotype associated with a structural mutation in the HLA-A*0301 gene.
Tissue antigens | 1996-09-01 | PMID 8896177
Lienert K, Russ G, Lester S and 3 more
Results of Expedicion Humana. II. Analysis of HLA class II alleles in three African American populations from Colombia using the PCR/SSOP: identification of a novel DQB1*02 (*0203) allele.
Tissue antigens | 1996-09-01 | PMID 8896178
Trachtenberg E A, Keyeux G, Bernal J and 2 more
Structural definition of the A*74 group: implications for matching in bone marrow transplantation with alternative donors.
Tissue antigens | 1996-09-01 | PMID 8896180
Blasczyk R, Wehling J, Onaldi-Mohr D and 3 more
Biochemical analysis of preliminary clusters in the non-lineage panel.
Veterinary immunology and immunopathology | 1996-08-01 | PMID 8896224
Naessens J, Nthale J M, Muiya P
The S. cerevisiae nitrogen starvation-induced Yvh1p and Ptp2p phosphatases play a role in control of sporulation.
Yeast (Chichester, England) | 1996-09-15 | PMID 8896280
Park H D, Beeser A E, Clancy M J and 1 more
Statistical properties of the variation at linked microsatellite loci: implications for the history of human Y chromosomes.
Molecular biology and evolution | 1996-11-01 | PMID 8896373
Goldstein D B, Zhivotovsky L A, Nayar K and 3 more
Mitochondrial gene divergence of Colombian Drosophila pseudoobscura.
Molecular biology and evolution | 1996-11-01 | PMID 8896379
Jenkins T M, Basten C J, Anderson W W
VH and VL gene analysis in sporadic Burkitt's lymphoma shows somatic hypermutation, intraclonal heterogeneity, and a role for antigen selection.
Blood | 1996-11-01 | PMID 8896424
Chapman C J, Zhou J X, Gregory C and 2 more
Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria.
Blood | 1996-11-01 | PMID 8896428
McManus J F, Begley C G, Sassa S and 1 more
Genes: UROD
RRP5 is required for formation of both 18S and 5.8S rRNA in yeast.
The EMBO journal | 1996-10-15 | PMID 8896463
Venema J, Tollervey D
Mof4-1 is an allele of the UPF1/IFS2 gene which affects both mRNA turnover and -1 ribosomal frameshifting efficiency.
The EMBO journal | 1996-10-15 | PMID 8896465
Cui Y, Dinman J D, Peltz S W
Genes: UPF1, UPF2
Hepatitis B virus (HBV)/hepatitis D virus (HDV) coinfection in outbreaks of acute hepatitis in the Peruvian Amazon basin: the roles of HDV genotype III and HBV genotype F.
The Journal of infectious diseases | 1996-11-01 | PMID 8896491
Casey J L, Niro G A, Engle R E and 6 more
Multiple drug resistance to nucleoside analogues and nonnucleoside reverse transcriptase inhibitors in an efficiently replicating human immunodeficiency virus type 1 patient strain.
The Journal of infectious diseases | 1996-11-01 | PMID 8896496
Schmit J C, Cogniaux J, Hermans P and 8 more
Molecular epidemiology of diphtheria in Russia, 1985-1994.
The Journal of infectious diseases | 1996-11-01 | PMID 8896510
Popovic T, Kombarova S Y, Reeves M W and 5 more
Biochemical and genetic data suggest that InhA is not the primary target for activated isoniazid in Mycobacterium tuberculosis.
The Journal of infectious diseases | 1996-11-01 | PMID 8896513
Mdluli K, Sherman D R, Hickey M J and 4 more
Patient isolates of Borrelia burgdorferi sensu lato with genotypic and phenotypic similarities of strain 25015.
The Journal of infectious diseases | 1996-11-01 | PMID 8896519
Picken R N, Cheng Y, Strle F and 1 more
Fluoroquinolone resistance associated with specific gyrase mutations in clinical isolates of multidrug-resistant Mycobacterium tuberculosis.
The Journal of infectious diseases | 1996-11-01 | PMID 8896523
Xu C, Kreiswirth B N, Sreevatsan S and 2 more
Association of hepatosplenic schistosomiasis with HLA-DQB1*0201.
The Journal of infectious diseases | 1996-11-01 | PMID 8896524
Secor W E, del Corral H, dos Reis M G and 9 more
Genes: SEA
Defining the boundaries of zebrafish developmental genetics.
Nature genetics | 1996-11-01 | PMID 8896553
Felsenfeld A L
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats.
Nature genetics | 1996-11-01 | PMID 8896557
Imbert G, Saudou F, Yvert G and 12 more
Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.
Nature genetics | 1996-11-01 | PMID 8896559
Oh J, Bailin T, Fukai K and 6 more
Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea.
Nature genetics | 1996-11-01 | PMID 8896562
Höglund P, Haila S, Socha J and 7 more
Genes: CFTR
Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.
Nature genetics | 1996-11-01 | PMID 8896563
Lo Ten Foe J R, Rooimans M A, Bosnoyan-Collins L and 17 more
Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.
Nature genetics | 1996-11-01 | PMID 8896567
Maichele A J, Burwinkel B, Maire I and 2 more
Genes: PHKG2
Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease.
Nature genetics | 1996-11-01 | PMID 8896569
Salomon R, Attié T, Pelet A and 9 more
Genes: RET, GDNF
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.
Nature genetics | 1996-11-01 | PMID 8896571
Belloni E, Muenke M, Roessler E and 13 more
Genes: SHH
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.
Nature genetics | 1996-11-01 | PMID 8896572
Roessler E, Belloni E, Gaudenz K and 5 more
Genes: SHH
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.
Nature genetics | 1996-11-01 | PMID 8896573
Shi Z Z, Habib G M, Rhead W J and 4 more
Genes: GSS
Blood type AB in the feline AB blood group system.
American journal of veterinary research | 1996-10-01 | PMID 8896680
Griot-Wenk M E, Callan M B, Casal M L and 4 more
A long-term culture system for the expansion of hematopoietic stem cells from embryonic yolk sac with the capacity to seed erythroid and lymphoid development in vitro and to reconstitute the lymphoid compartment in severe combined immunodeficient mice.
Artificial organs | 1996-10-01 | PMID 8896728
Ji H, Yu X Z, Wagner T E
Effects of 2-deoxy-d-glucose on the functional state of the rat myoblast GLUT 1 transporter.
Biochemistry and molecular biology international | 1996-10-01 | PMID 8896744
Mesmer O T, Lu Z, Xia L and 1 more