Is the Ala138Gly alteration of MEFV gene important for amyloidosis?
Human mutation | 2001-01-01 | PMID 11139244
Akar E, Yalcinkaya F, Akar N
Genes: MEFV
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 1462 of 10600
Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome.
Human mutation | 2001-01-01 | PMID 11139245
Matsukawa R, Iida K, Nakayama M and 7 more
Genes: FBN1
Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: a splice junction mutation in intron 5 and cluster of four mutations in exon 15.
Human mutation | 2001-01-01 | PMID 11139246
Bodzioch M, Lapicka K, Aslanidis C and 2 more
Genes: NTRK1
Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome.
Human mutation | 2001-01-01 | PMID 11139247
Crosnier C, Driancourt C, Raynaud N and 2 more
Genes: EGF
Frequency of BRCA1 and BRCA2 mutations in a clinic-based series of breast and ovarian cancer families.
Human mutation | 2001-01-01 | PMID 11139249
Vaziri S A, Krumroy L M, Rostai M and 1 more
Genes: BRCA1, BRCA2
Identification of novel polymorphisms in the pM5 and MRP1 (ABCC1) genes at locus 16p13.1 and exclusion of both genes as responsible for pseudoxanthoma elasticum.
Human mutation | 2001-01-01 | PMID 11139250
Perdu J, Germain D P
Genes: ABCC1, ABCC6
Prevalence of BRCA1 founder mutations in western Poland.
Human mutation | 2001-01-01 | PMID 11139251
Jasinska A, Krzyzosiak W J
Genes: BRCA1
Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia.
Human mutation | 2001-01-01 | PMID 11139253
Toone J R, Applegarth D A, Coulter-Mackie M B and 1 more
Genes: AMT
Eight novel LDL receptor gene mutations among patients under LDL apheresis in Dresden and Leipzig.
Human mutation | 2001-01-01 | PMID 11139254
Bochmann H, Geisel J, Herrmann W and 7 more
Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuria.
Human mutation | 2001-01-01 | PMID 11139255
Acosta A X, Silva W A, Carvalho T M and 1 more
Genes: PAH
Novel mutations in the GALK1 gene in patients with galactokinase deficiency.
Human mutation | 2001-01-01 | PMID 11139256
Hunter M, Angelicheva D, Levy H L and 2 more
Genes: GALK1
IGF-II ameliorates the dystrophic phenotype and coordinately down-regulates programmed cell death.
Cell death and differentiation | 2000-11-01 | PMID 11139285
Smith J, Goldsmith C, Ward A and 1 more
Genes: DMD, SMS
Sensitivity to TRAIL/APO-2L-mediated apoptosis in human renal cell carcinomas and its enhancement by topotecan.
Cell death and differentiation | 2000-11-01 | PMID 11139287
Déjosez M, Ramp U, Mahotka C and 4 more
Genes: TNF
The rates of molecular evolution in rodent and primate mitochondrial DNA.
Journal of molecular evolution | 2001-01-01 | PMID 11139293
Weinreich D M
Genetic affinities within the herring gull Larus argentatus assemblage revealed by AFLP genotyping.
Journal of molecular evolution | 2001-01-01 | PMID 11139298
de Knijff P, Denkers F, van Swelm N D and 1 more
Allelic diversity at the het-c locus in Neurospora tetrasperma confirms outcrossing in nature and reveals an evolutionary dilemma for pseudohomothallic ascomycetes.
Journal of molecular evolution | 2001-01-01 | PMID 11139299
Powell A J, Jacobson D J, Natvig D O
Drosophila embryos lacking N-myristoyltransferase have multiple developmental defects.
Experimental cell research | 2001-01-15 | PMID 11139338
Ntwasa M, Aapies S, Schiffmann D A and 1 more
p53-independent upregulation of KILLER/DR5 TRAIL receptor expression by glucocorticoids and interferon-gamma.
Experimental cell research | 2001-01-15 | PMID 11139340
Meng R D, El-Deiry W S
Genes: STAT1, TNF
Integrin alpha3beta1 engagement disrupts intercellular adhesion.
Experimental cell research | 2001-01-15 | PMID 11139342
Kawano K, Kantak S S, Murai M and 2 more
Chondrocyte expressed protein-68 (CEP-68), a novel human marker gene for cultured chondrocytes.
The Biochemical journal | 2001-01-15 | PMID 11139377
Steck E, Benz K, Lorenz H and 3 more
Haem-linked interactions in horseradish peroxidase revealed by spectroscopic analysis of the Phe-221-->Met mutant.
The Biochemical journal | 2001-01-15 | PMID 11139379
Howes B D, Veitch N C, Smith A T and 2 more
Identification of essential active-site residues in the cyanogenic beta-glucosidase (linamarase) from cassava (Manihot esculenta Crantz) by site-directed mutagenesis.
The Biochemical journal | 2001-01-15 | PMID 11139381
Keresztessy Z, Brown K, Dunn M A and 1 more
Genes: PNP
Catalytic and spectroscopic analysis of blue copper-containing nitrite reductase mutants altered in the environment of the type 2 copper centre: implications for substrate interaction.
The Biochemical journal | 2001-01-15 | PMID 11139389
Prudêncio M, Eady R R, Sawers G
5-Aminolaevulinate synthase gene promoter contains two cAMP-response element (CRE)-like sites that confer positive and negative responsiveness to CRE-binding protein (CREB).
The Biochemical journal | 2001-01-15 | PMID 11139395
Giono L E, Varone C L, Cánepa E T
Molecular impact of MinK on the enantiospecific block of I(Ks) by chromanols.
British journal of pharmacology | 2000-12-01 | PMID 11139424
Lerche C, Seebohm G, Wagner C I and 7 more
Genes: KCNQ1
Modulation of histamine H(2) receptor signalling by G-protein-coupled receptor kinase 2 and 3.
British journal of pharmacology | 2000-12-01 | PMID 11139450
Rodriguez-Pena M S, Timmerman H, Leurs R
Genes: GRK2, GRK5, GRK6
Reduction of [Ca(2+)](i) restores uncoupled beta-adrenergic signaling in isolated perfused transgenic mouse hearts.
Circulation research | 2001-01-19 | PMID 11139467
Serikov V B, Petrashevskaya N N, Canning A M and 1 more
Transforming growth factor-beta/Smads signaling induces transcription of the cell type-restricted ankyrin repeat protein CARP gene through CAGA motif in vascular smooth muscle cells.
Circulation research | 2001-01-19 | PMID 11139470
Kanai H, Tanaka T, Aihara Y and 5 more
Phenotypic alteration of vascular smooth muscle cells precedes elastolysis in a mouse model of Marfan syndrome.
Circulation research | 2001-01-19 | PMID 11139471
Bunton T E, Biery N J, Myers L and 3 more
Genes: FBN1
Homeobox protein Hex induces SMemb/nonmuscle myosin heavy chain-B gene expression through the cAMP-responsive element.
Circulation research | 2001-01-19 | PMID 11139473
Sekiguchi K, Kurabayashi M, Oyama Y and 10 more
Microsatellite instability of endothelial cell growth and apoptosis genes within plexiform lesions in primary pulmonary hypertension.
Circulation research | 2001-01-19 | PMID 11139485
Yeager M E, Halley G R, Golpon H A and 2 more
The rye mutants identify a role for Ssn/Srb proteins of the RNA polymerase II holoenzyme during stationary phase entry in Saccharomyces cerevisiae.
Genetics | 2001-01-01 | PMID 11139488
Chang Y W, Howard S C, Budovskaya Y V and 2 more
Two related proteins, Edc1p and Edc2p, stimulate mRNA decapping in Saccharomyces cerevisiae.
Genetics | 2001-01-01 | PMID 11139489
Dunckley T, Tucker M, Parker R
Genetic evidence for a morphogenetic function of the Saccharomyces cerevisiae Pho85 cyclin-dependent kinase.
Genetics | 2001-01-01 | PMID 11139490
Lenburg M E, O'Shea E K
Genes: CDC42
Estimates of the rate and distribution of fitness effects of spontaneous mutation in Saccharomyces cerevisiae.
Genetics | 2001-01-01 | PMID 11139491
Zeyl C, DeVisser J A
Crossing over is rarely associated with mitotic intragenic recombination in Schizosaccharomyces pombe.
Genetics | 2001-01-01 | PMID 11139492
Virgin J B, Bailey J P, Hasteh F and 3 more
A new hyperrecombination mutation identifies a novel yeast gene, THP1, connecting transcription elongation with mitotic recombination.
Genetics | 2001-01-01 | PMID 11139493
Gallardo M, Aguilera A
WW domains of Rsp5p define different functions: determination of roles in fluid phase and uracil permease endocytosis in Saccharomyces cerevisiae.
Genetics | 2001-01-01 | PMID 11139494
Gajewska B, Kamińska J, Jesionowska A and 3 more
Requirement for three novel protein complexes in the absence of the Sgs1 DNA helicase in Saccharomyces cerevisiae.
Genetics | 2001-01-01 | PMID 11139495
Mullen J R, Kaliraman V, Ibrahim S S and 1 more
Genes: SLX4, TOP1
The formamidase gene of Aspergillus nidulans: regulation by nitrogen metabolite repression and transcriptional interference by an overlapping upstream gene.
Genetics | 2001-01-01 | PMID 11139496
Fraser J A, Davis M A, Hynes M J
The clp1 gene of the mushroom Coprinus cinereus is essential for A-regulated sexual development.
Genetics | 2001-01-01 | PMID 11139497
Inada K, Morimoto Y, Arima T and 2 more
Polymorphism at the ribosomal DNA spacers and its relation to breeding structure of the widespread mushroom Schizophyllum commune.
Genetics | 2001-01-01 | PMID 11139499
James T Y, Moncalvo J M, Li S and 1 more
Extragenic bypass suppressors of mutations in the essential gene BLD2 promote assembly of basal bodies with abnormal microtubules in Chlamydomonas reinhardtii.
Genetics | 2001-01-01 | PMID 11139500
Preble A M, Giddings T H, Dutcher S K
Isoform-specific mutations in the Caenorhabditis elegans heterochronic gene lin-14 affect stage-specific patterning.
Genetics | 2001-01-01 | PMID 11139502
Reinhart B J, Ruvkun G
The Caenorhabditis elegans odr-2 gene encodes a novel Ly-6-related protein required for olfaction.
Genetics | 2001-01-01 | PMID 11139503
Chou J H, Bargmann C I, Sengupta P
Genes: GPI
The Drosophila genes disconnected and disco-related are redundant with respect to larval head development and accumulation of mRNAs from deformed target genes.
Genetics | 2001-01-01 | PMID 11139504
Mahaffey J W, Griswold C M, Cao Q M
DSP1, an HMG-like protein, is involved in the regulation of homeotic genes.
Genetics | 2001-01-01 | PMID 11139505
Decoville M, Giacomello E, Leng M and 1 more
Inferring parameters of mutation, selection and demography from patterns of synonymous site evolution in Drosophila.
Genetics | 2001-01-01 | PMID 11139506
McVean G A, Vieira J
The teflon gene is required for maintenance of autosomal homolog pairing at meiosis I in male Drosophila melanogaster.
Genetics | 2001-01-01 | PMID 11139508
Tomkiel J E, Wakimoto B T, Briscoe A
Quantitative trait loci for the monoamine-related traits heart rate and headless behavior in Drosophila melanogaster.
Genetics | 2001-01-01 | PMID 11139509
Ashton K, Wagoner A P, Carrillo R and 1 more
Substitution rates in Drosophila nuclear genes: implications for translational selection.
Genetics | 2001-01-01 | PMID 11139510
Dunn K A, Bielawski J P, Yang Z
Drosophila Lyra mutations are gain-of-function mutations of senseless.
Genetics | 2001-01-01 | PMID 11139511
Nolo R, Abbott L A, Bellen H J
Nucleotide polymorphism and natural selection at the pantophysin (Pan I) locus in the Atlantic cod, Gadus morhua (L.).
Genetics | 2001-01-01 | PMID 11139512
Pogson G H
Genetic loci controlling breast cancer susceptibility in the Wistar-Kyoto rat.
Genetics | 2001-01-01 | PMID 11139513
Lan H, Kendziorski C M, Haag J D and 3 more
Genetic and developmental analysis of X-inactivation in interspecific hybrid mice suggests a role for the Y chromosome in placental dysplasia.
Genetics | 2001-01-01 | PMID 11139514
Hemberger M, Kurz H, Orth A and 8 more
Duplication and suppression of chloroplast protein translocation genes in maize.
Genetics | 2001-01-01 | PMID 11139515
Settles A M, Baron A, Barkan A and 1 more
Development and applications of a complete set of rice telotrisomics.
Genetics | 2001-01-01 | PMID 11139516
Cheng Z, Yan H, Yu H and 4 more
Genetic factors required to maintain repression of a paramutagenic maize pl1 allele.
Genetics | 2001-01-01 | PMID 11139517
Hollick J B, Chandler V L
Rearrangements of the DNA in carbon ion-induced mutants of Arabidopsis thaliana.
Genetics | 2001-01-01 | PMID 11139518
Shikazono N, Tanaka A, Watanabe H and 1 more
Diverging trends between heterozygosity and allelic richness during postglacial colonization in the European beech.
Genetics | 2001-01-01 | PMID 11139519
Comps B, Gömöry D, Letouzey J and 2 more
RNA sequence evolution with secondary structure constraints: comparison of substitution rate models using maximum-likelihood methods.
Genetics | 2001-01-01 | PMID 11139520
Savill N J, Hoyle D C, Higgs P G
Measuring gametic disequilibrium from multilocus data.
Genetics | 2001-01-01 | PMID 11139521
Ayres K L, Balding D J
Mapping epistatic quantitative trait loci with one-dimensional genome searches.
Genetics | 2001-01-01 | PMID 11139524
Jannink J L, Jansen R
APC resistance and third-generation oral contraceptives: Acquired resistance to activated protein C, oral contraceptives and the risk of thromboembolic disease.
Human reproduction (Oxford, England) | 2001-01-01 | PMID 11139527
Gris J C, Jamin C, Benifla J L and 3 more
Genes: APC
Controlling misdiagnosis errors in preimplantation genetic diagnosis: a comprehensive model encompassing extrinsic and intrinsic sources of error.
Human reproduction (Oxford, England) | 2001-01-01 | PMID 11139534
Lewis C M, Pinêl T, Whittaker J C and 1 more
Genes: PGD
Oestrogen receptor-alpha gene polymorphism is associated with endometriosis, adenomyosis and leiomyomata.
Human reproduction (Oxford, England) | 2001-01-01 | PMID 11139535
Kitawaki J, Obayashi H, Ishihara H and 7 more
Chimerism in a fertile woman with 46,XY karyotype and female phenotype.
Human reproduction (Oxford, England) | 2001-01-01 | PMID 11139536
Sudik R, Jakubiczka S, Nawroth F and 2 more
A de novo complex chromosomal rearrangement with a translocation 7;9 and 8q insertion in a male carrier with no infertility.
Human reproduction (Oxford, England) | 2001-01-01 | PMID 11139537
Cai T, Yu P, Tagle D A and 3 more
Transcriptional mechanisms of bone morphogenetic protein-induced osteoprotegrin gene expression.
The Journal of biological chemistry | 2001-03-30 | PMID 11139569
Wan M, Shi X, Feng X and 1 more
Role of zymogen and activated factor X as scaffolds for the inhibition of the blood coagulation factor VIIa-tissue factor complex by recombinant nematode anticoagulant protein c2.
The Journal of biological chemistry | 2001-03-30 | PMID 11139576
Bergum P W, Cruikshank A, Maki S L and 3 more
Covalently linked heme in cytochrome p4504a fatty acid hydroxylases.
The Journal of biological chemistry | 2001-04-06 | PMID 11139583
Hoch U, Ortiz De Montellano P R
Regulation of the steroid-inducible 3alpha-hydroxysteroid dehydrogenase/carbonyl reductase gene in Comamonas testosteroni.
The Journal of biological chemistry | 2001-03-30 | PMID 11139589
Xiong G, Maser E
Regulation of the Saccharomyces cerevisiae DPP1-encoded diacylglycerol pyrophosphate phosphatase by zinc.
The Journal of biological chemistry | 2001-03-30 | PMID 11139591
Han G S, Johnston C N, Chen X and 3 more
Stimulation of human 8-oxoguanine-DNA glycosylase by AP-endonuclease: potential coordination of the initial steps in base excision repair.
Nucleic acids research | 2001-01-15 | PMID 11139613
Hill J W, Hazra T K, Izumi T and 1 more
Genes: OGG1
DNA binding sites for the Mlc and NagC proteins: regulation of nagE, encoding the N-acetylglucosamine-specific transporter in Escherichia coli.
Nucleic acids research | 2001-01-15 | PMID 11139621
Plumbridge J
Genes: PTS
Assessment of clone identity and sequence fidelity for 1189 IMAGE cDNA clones.
Nucleic acids research | 2001-01-15 | PMID 11139630
Halgren R G, Fielden M R, Fong C J and 1 more
Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland.
Molecular vision | 2000-12-13 | PMID 11139648
Liu N P, Dew-Knight S, Rayner M and 7 more
Genes: CHST6
[Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes].
Journal francais d'ophtalmologie | 2000-12-01 | PMID 11139690
Hamel C P, Griffoin J M, Bazalgette C and 11 more
Genes: RHO, RPE65, CHM
["MELAS" (A3243G) mutation of mitochondrial DNA: a study of the relationships between the clinical phenotype in 19 patients and morphological and molecular data].
Revue neurologique | 2000-12-01 | PMID 11139730
Laforêt P, Ziegler F, Sternberg D and 5 more
Pulmonary veins-left atrial junction: anatomic and histological study.
Pacing and clinical electrophysiology : PACE | 2000-11-01 | PMID 11139937
Moubarak J B, Rozwadowski J V, Strzalka C T and 6 more
Genetic variability in the response of normal murine hematopoietic progenitor cells to extracorporeal photochemotherapy.
Photochemistry and photobiology | 2000-12-01 | PMID 11140270
Tsujino I, Sieber F
Association between the serotonin 2C receptor gene and tardive dyskinesia in chronic schizophrenia: additive contribution of 5-HT2Cser and DRD3gly alleles to susceptibility.
Psychopharmacology | 2000-11-01 | PMID 11140333
Segman R H, Heresco-Levy U, Finkel B and 9 more
Genes: DRD3
A pathway model of lipid metabolism to predict the effect of genetic variability on lipid levels.
Journal of molecular medicine (Berlin, Germany) | 2000-01-01 | PMID 11140376
Knoblauch H, Schuster H, Luft F C and 1 more
Molecular and phenotypic identification of the yeast pathogen Candida dubliniensis.
Journal of molecular medicine (Berlin, Germany) | 2000-01-01 | PMID 11140378
Kurzai O, Korting H C, Harmsen D and 4 more
Structural basis of Wiskott-Aldrich syndrome causing mutations in the WH1 domain.
Journal of molecular medicine (Berlin, Germany) | 2000-01-01 | PMID 11140379
Rong S B, Vihinen M
Localization of the gene for fibrodysplasia ossificans progressiva (FOP) to chromosome 17q21-22.
Genetic counseling (Geneva, Switzerland) | 2000-01-01 | PMID 11140409
Lucotte G, Bathelier C, Mercier G and 4 more
Genes: NOG
An adult patient with a distal interstitial 14q deletion: clinical report and literature review.
Genetic counseling (Geneva, Switzerland) | 2000-01-01 | PMID 11140410
Spruijt L, Van Der Blij-Philipsen M, Engelen J J and 1 more
Developmental and behavioural phenotype in Noonan syndrome?
Genetic counseling (Geneva, Switzerland) | 2000-01-01 | PMID 11140417
Sarimski K
A survey of flagellate diversity at four deep-sea hydrothermal vents in the Eastern Pacific Ocean using structural and molecular approaches.
The Journal of eukaryotic microbiology | 2000-01-01 | PMID 11140455
Atkins M S, Teske A P, Anderson O R
Genetic and environmental factors affecting mating type frequency in natural isolates of Tetrahymena thermophila.
The Journal of eukaryotic microbiology | 2000-01-01 | PMID 11140456
Arslanyolu M, Doerder F P
Is lack of peripheral tolerance induction a cause for diabetes in the non-obese diabetic mouse?
Archivum immunologiae et therapiae experimentalis | 2000-01-01 | PMID 11140468
Lund T, Strid J
The role of T cells in rheumatoid arthritis.
Archivum immunologiae et therapiae experimentalis | 2000-01-01 | PMID 11140470
Weyand C M, Bryl E, Goronzy J J
Disturbance and diversity in experimental microcosms.
Nature | 2000-01-01 | PMID 11140680
Buckling A, Kassen R, Bell G and 1 more
Asymmetric leaves1 mediates leaf patterning and stem cell function in Arabidopsis.
Nature | 2000-01-01 | PMID 11140682
Byrne M E, Barley R, Curtis M and 4 more
Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents.
Nature | 2000-01-01 | PMID 11140688
Hanaoka K, Qian F, Boletta A and 6 more
Genes: PKD1, PKD2
Aberrant expression of immunoglobulin heavy chain genes in Epstein-Barr virus-negative, human immunodeficiency virus-related lymphoid interstitial pneumonia.
Laboratory investigation; a journal of technical methods and pathology | 2000-12-01 | PMID 11140701
Kurosu K, Yumoto N, Rom W N and 5 more
MSI-L gastric carcinomas share the hMLH1 methylation status of MSI-H carcinomas but not their clinicopathological profile.
Laboratory investigation; a journal of technical methods and pathology | 2000-12-01 | PMID 11140703
Pinto M, Oliveira C, Machado J C and 7 more
Catalase transcript accumulation in response to dehydration and osmotic stress in leaves of maize viviparous mutants.
Redox report : communications in free radical research | 2000-01-01 | PMID 11140749
Guan L M, Scandalios J G
The common mutations in the lipoprotein lipase gene in Italy: effects on plasma lipids and angiographically assessed coronary atherosclerosis.
Clinical genetics | 2000-11-01 | PMID 11140837
Arca M, Campagna F, Montali A and 7 more
Genes: LPL
A multivariate analysis of 59 candidate genes in personality traits: the temperament and character inventory.
Clinical genetics | 2000-11-01 | PMID 11140838
Comings D E, Gade-Andavolu R, Gonzalez N and 7 more