Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.
Nature genetics | 2000-06-01 | PMID 10835631
Ménasché G, Pastural E, Feldmann J and 8 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 1340 of 10600
Features of systemic lupus erythematosus in Dnase1-deficient mice.
Nature genetics | 2000-06-01 | PMID 10835632
Napirei M, Karsunky H, Zevnik B and 3 more
Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.
Nature genetics | 2000-06-01 | PMID 10835633
Netchine I, Sobrier M L, Krude H and 9 more
Genes: LHX3, LIM2
TLR4 mutations are associated with endotoxin hyporesponsiveness in humans.
Nature genetics | 2000-06-01 | PMID 10835634
Arbour N C, Lorenz E, Schutte B C and 6 more
Genes: TLR4
Homologous recombination is responsible for cell death in the absence of the Sgs1 and Srs2 helicases.
Nature genetics | 2000-06-01 | PMID 10835635
Gangloff S, Soustelle C, Fabre F
Mice deficient for delta- and mu-opioid receptors exhibit opposing alterations of emotional responses.
Nature genetics | 2000-06-01 | PMID 10835636
Filliol D, Ghozland S, Chluba J and 10 more
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.
Nature genetics | 2000-06-01 | PMID 10835638
Gripp K W, Wotton D, Edwards M C and 8 more
Genes: NODAL, SHH, SIX3, SMAD2, ZIC2
Gata3 loss leads to embryonic lethality due to noradrenaline deficiency of the sympathetic nervous system.
Nature genetics | 2000-06-01 | PMID 10835639
Lim K C, Lakshmanan G, Crawford S E and 3 more
Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.
Nature genetics | 2000-06-01 | PMID 10835640
Witt H, Luck W, Hennies H C and 5 more
Genes: PRSS1, SPINK1
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.
Nature genetics | 2000-06-01 | PMID 10835642
Le Saux O, Urban Z, Tschuch C and 10 more
Genes: ABCC6
Mutations in ABCC6 cause pseudoxanthoma elasticum.
Nature genetics | 2000-06-01 | PMID 10835643
Bergen A A, Plomp A S, Schuurman E J and 9 more
Genes: ABCC6
[Molecular genetics of essential hypertension. Susceptibility and resistance genes].
Medicina | 2000-01-01 | PMID 10835701
Pirola C J
Genes: ACE
[Association of non-syndromic cleft lip and cleft palate with microsatellite markers located in 6p].
Revista medica de Chile | 1999-10-01 | PMID 10835735
Carreño H, Paredes M, Téllez G and 2 more
Genes: MSX1, TGFA
[Association between nonsyndromic cleft lip/palate and microsatellite markers located in 4q].
Revista medica de Chile | 1999-12-01 | PMID 10835749
Paredes M, Carreño H, Solá J A and 3 more
Distribution of geriatric disease-related genotypes in the National Institute for Longevity Sciences, Longitudinal Study of Aging (NILS-LSA).
Journal of epidemiology | 2000-04-01 | PMID 10835828
Shimokata H, Yamada Y, Nakagawa M and 9 more
Genes: DLST, ACE, CCKAR
[HIV-1 (human immunodeficiency virus type 1) mutant strain associated with zidovudine resistance detected from a Japanese patient with primary HIV-1 infection].
Kansenshogaku zasshi. The Journal of the Japanese Association for Infectious Diseases | 2000-04-01 | PMID 10835842
Usuku S, Noguchi Y, Sakamoto M and 4 more
Sequencing the entire genomes of free-living organisms: the foundation of pharmacology in the new millennium.
Annual review of pharmacology and toxicology | 2000-01-01 | PMID 10836129
Broder S, Venter J C
Evidence for superantigen involvement in preeclampsia.
American journal of reproductive immunology (New York, N.Y. : 1989) | 2000-04-01 | PMID 10836246
Luppi P, McKnight C, Mathie T and 5 more
Antigenic characterization of rabies virus isolates from vaccinated dogs in plateau state, Nigeria.
Veterinary research communications | 2000-04-01 | PMID 10836279
Okoh A E
Genes: LEP
Molecular identification of main cellular lineages as a tool for the classification of gastric cancer.
Human pathology | 2000-05-01 | PMID 10836295
Sepulveda A R, Wu L, Ota H and 4 more
Genotype-phenotype correlations in cystic fibrosis: clinical severity of mutation S549R(T-->G).
The European respiratory journal | 1999-01-01 | PMID 10836331
Frossard P M, Hertecant J, Bossaert Y and 1 more
Genes: CFTR
Clinical transplantation tolerance twelve years after prospective withdrawal of immunosuppressive drugs: studies of chimerism and anti-donor reactivity.
Transplantation | 2000-04-27 | PMID 10836360
Strober S, Benike C, Krishnaswamy S and 2 more
Factor V R506Q mutation (activated protein C resistance) is an additional risk factor for early renal graft loss associated with acute vascular rejection.
Transplantation | 2000-04-27 | PMID 10836365
Ekberg H, Svensson P J, Simanaitis M and 1 more
Genes: APC
Determination of somatic mutant frequencies at glycophorin A and T-cell receptor loci for biodosimetry of acute and prolonged irradiation.
Applied radiation and isotopes : including data, instrumentation and methods for use in agriculture, industry and medicine | 2000-05-01 | PMID 10836420
Saenko A S, Zamulaeva I A, Smirnova S G and 7 more
Clinical associations and characterisation of antineutrophil cytoplasmic antibodies directed against bactericidal/permeability-increasing protein and azurocidin.
Rheumatology international | 2000-01-01 | PMID 10836522
Cooper T, Savige J, Nassis L and 6 more
Genes: BPI
TNF-alpha gene polymorphism does not affect the clinical and radiological outcome of rheumatoid arthritis.
Rheumatology international | 2000-01-01 | PMID 10836523
Lacki J K, Moser R, Korczowska I and 2 more
Genes: TNF
A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa.
Archives of dermatological research | 2000-04-01 | PMID 10836608
Lee J Y, Li C, Chao S C and 2 more
Psychopathology in children with intellectual disability.
Journal of child psychology and psychiatry, and allied disciplines | 2000-05-01 | PMID 10836671
Dykens E M
Sex differences, assortative mating, and cultural transmission effects on adolescent delinquency: a twin family study.
Journal of child psychology and psychiatry, and allied disciplines | 2000-05-01 | PMID 10836673
Taylor J, McGue M, Iacono W G
Variable expression of the autism broader phenotype: findings from extended pedigrees.
Journal of child psychology and psychiatry, and allied disciplines | 2000-05-01 | PMID 10836679
Pickles A, Starr E, Kazak S and 5 more
Molecular interactions and metal binding in the theophylline-binding core of an RNA aptamer.
RNA (New York, N.Y.) | 2000-05-01 | PMID 10836787
Zimmermann G R, Wick C L, Shields T P and 2 more
Isolation and characterization of polyadenylation complexes assembled in vitro.
RNA (New York, N.Y.) | 2000-05-01 | PMID 10836797
Veraldi K L, Edwalds-Gilbert G, MacDonald C C and 2 more
Evaluation of lymph node virus burden in human immunodeficiency virus-infected patients receiving efavirenz-based protease inhibitor--sparing highly active antiretroviral therapy.
The Journal of infectious diseases | 2000-04-01 | PMID 10836864
Dybul M, Chun T W, Ward D J and 11 more
Frequent mutations of the beta-catenin gene in mouse colon tumors induced by azoxymethane.
Carcinogenesis | 2000-06-01 | PMID 10836998
Takahashi M, Nakatsugi S, Sugimura T and 1 more
Genes: APC
Brassica vegetables increase and apiaceous vegetables decrease cytochrome P450 1A2 activity in humans: changes in caffeine metabolite ratios in response to controlled vegetable diets.
Carcinogenesis | 2000-06-01 | PMID 10837004
Lampe J W, King I B, Li S and 5 more
Genes: GSTM1, NAT2
Genetic variants of myeloperoxidase and lung cancer risk.
Carcinogenesis | 2000-06-01 | PMID 10837005
Schabath M B, Spitz M R, Zhang X and 2 more
Genes: MPO
Metabolic activation of N-alkylnitrosamines in genetically engineered Salmonella typhimurium expressing CYP2E1 or CYP2A6 together with human NADPH-cytochrome P450 reductase.
Carcinogenesis | 2000-06-01 | PMID 10837014
Kushida H, Fujita K, Suzuki A and 4 more
Mutagen sensitivity and environmental exposures as contributing causes of chromosome 3p losses in head and neck cancers.
Carcinogenesis | 2000-06-01 | PMID 10837016
Schantz S P, Huang Q, Shah K and 6 more
Tumors arising in DNA mismatch repair-deficient mice show a wide variation in mutation frequency as assessed by a transgenic reporter gene.
Carcinogenesis | 2000-06-01 | PMID 10837019
Baross-Francis A, Milhausen M K, Andrew S E and 2 more
Genes: MSH2, PMS2
gamma-catenin is regulated by the APC tumor suppressor and its oncogenic activity is distinct from that of beta-catenin.
Genes & development | 2000-06-01 | PMID 10837025
Kolligs F T, Kolligs B, Hajra K M and 4 more
Genes: APC
E-MAP-115, encoding a microtubule-associated protein, is a retinoic acid-inducible gene required for spermatogenesis.
Genes & development | 2000-06-01 | PMID 10837026
Komada M, McLean D J, Griswold M D and 2 more
Notch signaling is essential for vascular morphogenesis in mice.
Genes & development | 2000-06-01 | PMID 10837027
Krebs L T, Xue Y, Norton C R and 10 more
Tissue- and stage-specific modulation of Wingless signaling by the segment polarity gene lines.
Genes & development | 2000-06-01 | PMID 10837029
Hatini V, Bokor P, Goto-Mandeville R and 1 more
N-myc can functionally replace c-myc in murine development, cellular growth, and differentiation.
Genes & development | 2000-06-01 | PMID 10837031
Malynn B A, de Alboran I M, O'Hagan R C and 4 more
Gross chromosomal rearrangements and genetic exchange between nonhomologous chromosomes following BRCA2 inactivation.
Genes & development | 2000-06-01 | PMID 10837032
Yu V P, Koehler M, Steinlein C and 5 more
Genes: BRCA2
Receptor selection in B and T lymphocytes.
Annual review of immunology | 2000-01-01 | PMID 10837051
Nemazee D
Analysis of CYP21 coding polymorphisms in three ethnic populations: further evidence of nonamplifying CYP21 alleles among whites.
Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology | 2000-03-01 | PMID 10837089
Ozturk I C, Wei W L, Palaniappan L and 2 more
Prevalence of methylenetetrahydrofolate reductase mutations in patients with venous thrombosis.
Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology | 2000-03-01 | PMID 10837091
Isotalo P A, Donnelly J G
Genes: MTHFR
A simple PCR test to detect the common 35delG mutation in the connexin 26 gene.
Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology | 2000-03-01 | PMID 10837093
Wilcox S A, Osborn A H, Dahl H H
Genes: GJB2
Analysis of mouse fertilin in wild-type and fertilin beta(-/-) sperm: evidence for C-terminal modification, alpha/beta dimerization, and lack of essential role of fertilin alpha in sperm-egg fusion.
Developmental biology | 2000-06-15 | PMID 10837118
Cho C, Ge H, Branciforte D and 2 more
The bHLH class protein pMesogenin1 can specify paraxial mesoderm phenotypes.
Developmental biology | 2000-06-15 | PMID 10837126
Yoon J K, Moon R T, Wold B
The maternal effect mutation sésame affects the formation of the male pronucleus in Drosophila melanogaster.
Developmental biology | 2000-06-15 | PMID 10837127
Loppin B, Docquier M, Bonneton F and 1 more
Mitochondrial DNA variation and the evolutionary history of cryptic Gammarus fossarum types.
Molecular phylogenetics and evolution | 2000-05-01 | PMID 10837155
Müller J
Circulation patterns of group A and B human respiratory syncytial virus genotypes in 5 communities in North America.
The Journal of infectious diseases | 2000-06-01 | PMID 10837167
Peret T C, Hall C B, Hammond G W and 5 more
Molecular epidemiology survey of penicillin-susceptible and -resistant Streptococcus pneumoniae recovered from patients with meningitis in France.
The Journal of infectious diseases | 2000-06-01 | PMID 10837177
Doit C, Picard B, Loukil C and 2 more
Gonorrhea among men who have sex with men: outbreak caused by a single genotype of erythromycin-resistant Neisseria gonorrhoeae with a single-base pair deletion in the mtrR promoter region.
The Journal of infectious diseases | 2000-06-01 | PMID 10837198
Xia M, Whittington W L, Shafer W M and 1 more
Conservation of Helicobacter pylori genotypes in different ethnic groups in Houston, Texas.
The Journal of infectious diseases | 2000-06-01 | PMID 10837199
Yamaoka Y, Malaty H M, Osato M S and 1 more
Vitamin D receptor gene polymorphisms and susceptibility to Mycobacterium malmoense pulmonary disease.
The Journal of infectious diseases | 2000-06-01 | PMID 10837203
Gelder C M, Hart K W, Williams O M and 4 more
Genes: VDR
Gene regulation: better late than never?
Current biology : CB | 2000-05-18 | PMID 10837215
Ma H
Optokinetic behavior is reversed in achiasmatic mutant zebrafish larvae.
Current biology : CB | 2000-05-18 | PMID 10837226
Rick J M, Horschke I, Neuhauss S C
Dynamics of cytoplasmic dynein in living cells and the effect of a mutation in the dynactin complex actin-related protein Arp1.
Current biology : CB | 2000-05-18 | PMID 10837229
Xiang X, Han G, Winkelmann D A and 2 more
Associations between uncoupling protein 2, body composition, and resting energy expenditure in lean and obese African American, white, and Asian children.
The American journal of clinical nutrition | 2000-06-01 | PMID 10837279
Yanovski J A, Diament A L, Sovik K N and 4 more
Genes: UCP2, UCP3
Nutritionally induced oxidative stress: effect on viral disease.
The American journal of clinical nutrition | 2000-06-01 | PMID 10837315
Beck M A
The natural resistance-associated macrophage protein gene in African Americans with sarcoidosis.
American journal of respiratory cell and molecular biology | 2000-06-01 | PMID 10837363
Maliarik M J, Chen K M, Sheffer R G and 4 more
Modification of type I collagenous gels by alveolar epithelial cells.
American journal of respiratory cell and molecular biology | 2000-06-01 | PMID 10837367
Umino T, Wang H, Zhu Y and 5 more
Mucoid Pseudomonas aeruginosa, TNF-alpha, and IL-1beta, but not IL-6, induce human beta-defensin-2 in respiratory epithelia.
American journal of respiratory cell and molecular biology | 2000-06-01 | PMID 10837369
Harder J, Meyer-Hoffert U, Teran L M and 4 more
Genes: TNF
Pneumocystis carinii uses a functional cdc13 B-type cyclin complex during its life cycle.
American journal of respiratory cell and molecular biology | 2000-06-01 | PMID 10837370
Kottom T J, Thomas C F, Mubarak K K and 2 more
The influence of CD40-CD154 interactions on the expressed human V(H) repertoire: analysis of V(H) genes expressed by individual B cells of a patient with X-linked hyper-IgM syndrome.
International immunology | 2000-06-01 | PMID 10837404
Brezinschek H P, Dörner T, Monson N L and 2 more
Mutations in specific I-A(k) alpha(2) and beta(2) domain residues affect surface expression.
International immunology | 2000-06-01 | PMID 10837405
Lang M L, Yadati S, Seeley E S and 6 more
Expression of resistance to tetracyclines in strains of methicillin-resistant Staphylococcus aureus.
The Journal of antimicrobial chemotherapy | 2000-06-01 | PMID 10837427
Trzcinski K, Cooper B S, Hryniewicz W and 1 more
Analysis of the effects of -42 and -32 ampC promoter mutations in clinical isolates of Escherichia coli hyperproducing ampC.
The Journal of antimicrobial chemotherapy | 2000-06-01 | PMID 10837430
Caroff N, Espaze E, Gautreau D and 2 more
Genes: CAT
beta-lactamase expression in Plesiomonas shigelloides.
The Journal of antimicrobial chemotherapy | 2000-06-01 | PMID 10837443
Avison M B, Bennett P M, Walsh T R
Two RGD-independent alpha vbeta 3 integrin binding sites on tumstatin regulate distinct anti-tumor properties.
The Journal of biological chemistry | 2000-08-04 | PMID 10837460
Maeshima Y, Colorado P C, Kalluri R
Rab15 differentially regulates early endocytic trafficking.
The Journal of biological chemistry | 2000-09-01 | PMID 10837464
Zuk P A, Elferink L A
Aut7p, a soluble autophagic factor, participates in multiple membrane trafficking processes.
The Journal of biological chemistry | 2000-10-20 | PMID 10837468
Legesse-Miller A, Sagiv Y, Glozman R and 1 more
Genes: BET1
The role of alpha and beta chains in ligand recognition by beta 7 integrins.
The Journal of biological chemistry | 2000-08-18 | PMID 10837471
Higgins J M, Cernadas M, Tan K and 4 more
Association analysis of variants in the core promoter region of angiotensinogen gene with essential hypertension in Tibetan population.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2000-06-01 | PMID 10837512
Yang C, Qiu C, Lu S and 9 more
Genes: AGT
Correlation of genetic polymorphism of cytochrome P4502D6 with dextromethorphan oxidative metabolism in Chinese.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2000-06-01 | PMID 10837520
Cai W, Chen B, Tao X and 2 more
Genetic heterogeneity of non-specific mental retardation.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2000-06-01 | PMID 10837521
Chen J, Guo Y, Zhao M
Linkage of the genes controlling natural killer cell activity to HLA-B.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2000-06-01 | PMID 10837522
Zhang H, An J, Jiang Z and 4 more
Suicidal behavior in bipolar mood disorder: clinical characteristics of attempters and nonattempters.
Journal of affective disorders | 2000-08-01 | PMID 10837879
Oquendo M A, Waternaux C, Brodsky B and 4 more
Age of onset in affective disorder: its correlation with hereditary and psychosocial factors.
Journal of affective disorders | 2000-08-01 | PMID 10837882
Johnson L, Andersson-Lundman G, Aberg-Wistedt A and 1 more
Paradoxical increase of tyrosine hydroxylase-immunoreactive retinopetal fibers in the weaver mouse.
Brain research. Developmental brain research | 2000-05-11 | PMID 10837899
Simon A, Savy C, Martin-Martinelli E and 5 more
Synthase (H(+) ATPase): coupling between catalysis, mechanical work, and proton translocation.
Biochimica et biophysica acta | 2000-05-31 | PMID 10838044
Futai M, Omote H, Sambongi Y and 1 more
Molecular mechanisms of rotational catalysis in the F(0)F(1) ATP synthase.
Biochimica et biophysica acta | 2000-05-31 | PMID 10838045
Nakamoto R K, Ketchum C J, Kuo P H and 2 more
The ATP synthase of Escherichia coli: structure and function of F(0) subunits.
Biochimica et biophysica acta | 2000-05-31 | PMID 10838051
Deckers-Hebestreit G, Greie J, Stalz W and 1 more
Genes: SDS
Insights into ATP synthase assembly and function through the molecular genetic manipulation of subunits of the yeast mitochondrial enzyme complex.
Biochimica et biophysica acta | 2000-05-31 | PMID 10838056
Devenish R J, Prescott M, Roucou X and 1 more
Organisation of the yeast ATP synthase F(0):a study based on cysteine mutants, thiol modification and cross-linking reagents.
Biochimica et biophysica acta | 2000-05-31 | PMID 10838057
Velours J, Paumard P, Soubannier V and 4 more
A model for the structure of subunit a of the Escherichia coli ATP synthase and its role in proton translocation.
Biochimica et biophysica acta | 2000-05-31 | PMID 10838058
Vik S B, Long J C, Wada T and 1 more
Phosphorylation-dependent activation of TAK1 mitogen-activated protein kinase kinase kinase by TAB1.
FEBS letters | 2000-06-02 | PMID 10838074
Sakurai H, Miyoshi H, Mizukami J and 1 more
Genes: TAB1
Role of the N-terminal region of staphylokinase (SAK): evidence for the participation of the N-terminal region of SAK in the enzyme-substrate complex formation.
FEBS letters | 2000-06-02 | PMID 10838076
Rajamohan G, Dikshit K L
Genes: PRM3
Phosphorylation of Hic-5 at tyrosine 60 by CAKbeta and Fyn.
FEBS letters | 2000-06-02 | PMID 10838081
Ishino M, Aoto H, Sasaski H and 2 more
Priming of PC12 cells for semiquantitative microinjection studies involving Ras.
FEBS letters | 2000-06-02 | PMID 10838082
Schmidt G, Wittinghofer A
Biochemical characterization of the Drosophila axin protein.
FEBS letters | 2000-06-02 | PMID 10838083
Yanagawa S, Lee J S, Matsuda Y and 1 more
The alpha2 and alpha5 integrin genes: identification of transcription factors that regulate promoter activity in epidermal keratinocytes.
FEBS letters | 2000-06-02 | PMID 10838085
Corbi A L, Jensen U B, Watt F M
Genes: EBP
Mutation of MyoD-Ser237 abolishes its up-regulation by c-Mos.
FEBS letters | 2000-06-02 | PMID 10838091
Pelpel K, Leibovitch M, Fernandez A and 1 more
Influence of DNA repair on mutation spectra in Salmonella.
Mutation research | 2000-05-30 | PMID 10838131
DeMarini D M
In vivo formation and repair of cyclobutane pyrimidine dimers and 6-4 photoproducts measured at the gene and nucleotide level in Escherichia coli.
Mutation research | 2000-05-30 | PMID 10838132
Chandrasekhar D, Van Houten B
Genes: CPD
Toward an understanding of the role of DNA adduct conformation in defining mutagenic mechanism based on studies of the major adduct (formed at N(2)-dG) of the potent environmental carcinogen, benzo[a]pyrene.
Mutation research | 2000-05-30 | PMID 10838133
Kozack R, Seo K Y, Jelinsky S A and 1 more
Genes: AGA
Mutation spectra in supF: approaches to elucidating sequence context effects.
Mutation research | 2000-05-30 | PMID 10838134
Canella K A, Seidman M M