tag :: Proteins/*genetics

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Publikationen (verstecken)17
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1Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping
M. Gessler, A. Poustka, W. Cavenee, R. Neve, S. Orkin, und G. Bruns. Nature, 343 (6260): 774--778 (1990)
vor 12 Jahren von @ebch
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*Chromosome
*Chromosomes;Human;Pair
*Homozygote
11
Acid
Amino
Base
Cloning;Molecular
DNA-Binding
DNA/genetics
DNA;Neoplasm/genetics
Data
Deletion
Humans
Hybridization
Kidney
Mapping
Metalloproteins/*genetics
Molecular
Neoplasms/*genetics
Nucleic
Proteins/*genetics
Repetitive
Restriction
Sequence
Sequences;Nucleic
Tumor/*genetics
Wilms
*Chromosome*Chromosomes;Human;Pair*Homozygote11AcidAminoBaseCloning;MolecularDNA-BindingDNA/geneticsDNA;Neoplasm/geneticsDataDeletionHumansHybridizationKidneyMappingMetalloproteins/*geneticsMolecularNeoplasms/*geneticsNucleicProteins/*geneticsRepetitiveRestrictionSequenceSequences;NucleicTumor/*geneticsWilms
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1Sequence of the WT1 upstream region including the Wit-1 gene
M. Gessler, und G. Bruns. Genomics, 17 (2): 499--501 (1993)
vor 12 Jahren von @ebch
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(Genetics)
*Promoter
Acid
Amino
Animals
Base
Box
DNA-Binding
DNA;Complementary/metabolism
Data
Fetus
Fingers/genetics
Homology;Amino
Humans
Kidney
Kidney/metabolism
Mapping
Mice
Molecular
Neoplasms/*genetics
Proteins
Proteins/*genetics
Regions
Restriction
Sequence
TATA
Transcription;Genetic
Tumor/*genetics
WT1
Wilms
Zinc
(Genetics)*PromoterAcidAminoAnimalsBaseBoxDNA-BindingDNA;Complementary/metabolismDataFetusFingers/geneticsHomology;AminoHumansKidneyKidney/metabolismMappingMiceMolecularNeoplasms/*geneticsProteinsProteins/*geneticsRegionsRestrictionSequenceTATATranscription;GeneticTumor/*geneticsWT1WilmsZinc
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1Mouse gridlock: no aortic coarctation or deficiency, but fatal cardiac defects in Hey2 -/- mice
M. Gessler, K. Knobeloch, A. Helisch, K. Amann, N. Schumacher, E. Rohde, A. Fischer, und C. Leimeister. Curr Biol, 12 (18): 1601--1604 (2002)
vor 12 Jahren von @ebch
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*Mutation
*Zebrafish
Animals
Aortic
Basic
Cardiomyopathy;Hypertrophic;Familial/embryology/*genetics/pathology
Coarctation/*genetics
Evolution
Expression
Factors
Factors/*deficiency/*genetics/physiology
Gene
Helix-Loop-Helix
Humans
Hybridization
In
Mice
Mice;Knockout
Phenotype
Proteins
Proteins/*genetics
Situ
Transcription
Zebrafish/genetics
*Mutation*ZebrafishAnimalsAorticBasicCardiomyopathy;Hypertrophic;Familial/embryology/*genetics/pathologyCoarctation/*geneticsEvolutionExpressionFactorsFactors/*deficiency/*genetics/physiologyGeneHelix-Loop-HelixHumansHybridizationInMiceMice;KnockoutPhenotypeProteinsProteins/*geneticsSituTranscriptionZebrafish/genetics
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1The human MyoD1 (MYF3) gene maps on the short arm of chromosome 11 but is not associated with the WAGR locus or the region for the Beckwith-Wiedemann syndrome
M. Gessler, H. Hameister, I. Henry, C. Junien, T. Braun, und H. Arnold. Hum Genet, 86 (2): 135--138 (1990)
vor 12 Jahren von @ebch
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*Chromosomes;Human;Pair
11
Acid
Animals
Banding
Beckwith-Wiedemann
Cell
Cells
Chromosome
DNA/genetics
Genetic
Homology;Nucleic
Humans
Hybrid
Karyotyping
Line
Mapping
Markers
Mice
Muscle
MyoD
Protein
Proteins/*genetics
Sequence
Syndrome/*genetics
*Chromosomes;Human;Pair11AcidAnimalsBandingBeckwith-WiedemannCellCellsChromosomeDNA/geneticsGeneticHomology;NucleicHumansHybridKaryotypingLineMappingMarkersMiceMuscleMyoDProteinProteins/*geneticsSequenceSyndrome/*genetics
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1Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms
B. Klamt, A. Koziell, F. Poulat, P. Wieacker, P. Scambler, P. Berta, und M. Gessler. Hum Mol Genet, 7 (4): 709--714 (1998)
vor 12 Jahren von @ebch
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Abnormalities/*genetics
Alternative
Chain
DNA-Binding
Dysgenesis/*genetics
Factors/*genetics
Failure/*genetics
Female
Fingers/genetics
Glomerulosclerosis;Focal
Gonadal
Humans
Introns/genetics
Karyotyping
Kidney
Male
Mutation
Point
Polymerase
Proteins
Proteins/*genetics
Reaction
Segmental/*genetics
Splicing
Syndrome
Transcription
Urogenital
WT1
Zinc
Abnormalities/*geneticsAlternativeChainDNA-BindingDysgenesis/*geneticsFactors/*geneticsFailure/*geneticsFemaleFingers/geneticsGlomerulosclerosis;FocalGonadalHumansIntrons/geneticsKaryotypingKidneyMaleMutationPointPolymeraseProteinsProteins/*geneticsReactionSegmental/*geneticsSplicingSyndromeTranscriptionUrogenitalWT1Zinc
(0)
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1Combined loss of Hey1 and HeyL causes congenital heart defects because of impaired epithelial to mesenchymal transition
A. Fischer, C. Steidl, T. Wagner, E. Lang, P. Jakob, P. Friedl, K. Knobeloch, und M. Gessler. Circ Res, 100 (6): 856--863 (2007)
vor 12 Jahren von @ebch
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2/metabolism
Animals
Basic
Cell
Cells;Cultured
Count
Cycle
Defects;Congenital/*genetics/pathology
Epithelium/abnormalities/*pathology
Expression
Factors/*deficiency/*genetics
Gene
Heart
Helix-Loop-Helix
Matrix
Mesoderm/*pathology
Metalloproteinase
Mice
Mice;Knockout
Mice;Transgenic
Microscopy;Video
Proteins/*genetics
Receptor;Notch1/genetics
Regulation;Developmental
Transcription
2/metabolismAnimalsBasicCellCells;CulturedCountCycleDefects;Congenital/*genetics/pathologyEpithelium/abnormalities/*pathologyExpressionFactors/*deficiency/*geneticsGeneHeartHelix-Loop-HelixMatrixMesoderm/*pathologyMetalloproteinaseMiceMice;KnockoutMice;TransgenicMicroscopy;VideoProteins/*geneticsReceptor;Notch1/geneticsRegulation;DevelopmentalTranscription
(0)
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1Phenotypic variability in Hey2 -/- mice and absence of HEY2 mutations in patients with congenital heart defects or Alagille syndrome
A. Fischer, B. Klamt, N. Schumacher, C. Glaeser, I. Hansmann, H. Fenge, und M. Gessler. Mamm Genome, 15 (9): 711--716 (2004)
vor 12 Jahren von @ebch
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Adolescent
Alagille
Analysis;DNA
Animals
Basic
C57BL
Calcium-Binding
Chain
Child
Child;Preschool
DNA/chemistry/genetics
Defects;Congenital/*genetics/pathology
Factors
Heart
Helix-Loop-Helix
Humans
Infant
Intercellular
Membrane
Mice
Mice;Inbred
Mice;Knockout
Microsatellite
Mutation
Nucleotide
Peptides;Proteins
Point
Polymerase
Polymorphism;Single
Proteins
Proteins/*genetics
Proteins/genetics
Reaction
Repeats/genetics
Repressor
Sequence
Signaling
Syndrome/*genetics/pathology
Transcription
AdolescentAlagilleAnalysis;DNAAnimalsBasicC57BLCalcium-BindingChainChildChild;PreschoolDNA/chemistry/geneticsDefects;Congenital/*genetics/pathologyFactorsHeartHelix-Loop-HelixHumansInfantIntercellularMembraneMiceMice;InbredMice;KnockoutMicrosatelliteMutationNucleotidePeptides;ProteinsPointPolymerasePolymorphism;SingleProteinsProteins/*geneticsProteins/geneticsReactionRepeats/geneticsRepressorSequenceSignalingSyndrome/*genetics/pathologyTranscription
(0)
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1Analysis of HeyL expression in wild-type and Notch pathway mutant mouse embryos
C. Leimeister, N. Schumacher, C. Steidl, und M. Gessler. Mech Dev, 98 (1-2): 175--178 (2000)
vor 12 Jahren von @ebch
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*Receptors;Cell
Animals
Development/*genetics
Embryonic;Fetal
Expression
Factors/*genetics
Gene
Helix-Loop-Helix
Humans
Hybridization
In
Membrane
Mice
Mice;Knockout
Motifs/genetics
Mutation
Proteins/*genetics
Receptor;Notch1
Regulation;Developmental
Situ
Surface
Transcription
*Receptors;CellAnimalsDevelopment/*geneticsEmbryonic;FetalExpressionFactors/*geneticsGeneHelix-Loop-HelixHumansHybridizationInMembraneMiceMice;KnockoutMotifs/geneticsMutationProteins/*geneticsReceptor;Notch1Regulation;DevelopmentalSituSurfaceTranscription
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1Isolation of a yeast artificial chromosome contig spanning the Greig cephalopolysyndactyly syndrome (GCPS) gene region
A. Vortkamp, M. Gessler, D. Le Paslier, R. Elaswarapu, S. Smith, und K. Grzeschik. Genomics, 22 (3): 563--568 (1994)
vor 12 Jahren von @ebch
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(Genetics)
*Nerve
*Repressor
*Transcription
*Xenopus
7
Abnormalities;Multiple/*genetics
Base
Bones/abnormalities
Chromosome
Chromosomes;Artificial;Yeast
Chromosomes;Human;Pair
Cloning;Molecular
DNA
DNA-Binding
Data
Facial
Factors
Fingers/*genetics
Humans
Kruppel-Like
Mapping
Molecular
Polydactyly/*genetics
Primers/genetics
Promoter
Proteins
Proteins/*genetics
Regions
Sequence
Skull/*abnormalities
Syndactyly/*genetics
Syndrome
Tissue
Transcription
Zinc
(Genetics)*Nerve*Repressor*Transcription*Xenopus7Abnormalities;Multiple/*geneticsBaseBones/abnormalitiesChromosomeChromosomes;Artificial;YeastChromosomes;Human;PairCloning;MolecularDNADNA-BindingDataFacialFactorsFingers/*geneticsHumansKruppel-LikeMappingMolecularPolydactyly/*geneticsPrimers/geneticsPromoterProteinsProteins/*geneticsRegionsSequenceSkull/*abnormalitiesSyndactyly/*geneticsSyndromeTissueTranscriptionZinc
(0)
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1GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families
A. Vortkamp, M. Gessler, und K. Grzeschik. Nature, 352 (6335): 539--540 (1991)
vor 12 Jahren von @ebch
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(Genetics)
*Chromosomes;Human;Pair
*Nerve
*Repressor
*Transcription
*Translocation;Genetic
*Xenopus
7
Bones/*abnormalities
Cells/cytology
Chromosome
DNA-Binding
Deletion
Facial
Factor/genetics
Factors
Female
Fingers/*genetics
Growth
Humans
Hybrid
Kruppel-Like
Linkage
Male
Mapping
Proteins
Proteins/*genetics
Receptor;Epidermal
Restriction
Skull/*abnormalities
Syndactyly/*genetics
Syndrome
Tissue
Transcription
Zinc
(Genetics)*Chromosomes;Human;Pair*Nerve*Repressor*Transcription*Translocation;Genetic*Xenopus7Bones/*abnormalitiesCells/cytologyChromosomeDNA-BindingDeletionFacialFactor/geneticsFactorsFemaleFingers/*geneticsGrowthHumansHybridKruppel-LikeLinkageMaleMappingProteinsProteins/*geneticsReceptor;EpidermalRestrictionSkull/*abnormalitiesSyndactyly/*geneticsSyndromeTissueTranscriptionZinc
(0)
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1Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt)
A. Vortkamp, T. Franz, M. Gessler, und K. Grzeschik. Mamm Genome, 3 (8): 461--463 (1992)
vor 12 Jahren von @ebch
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*Nerve
*Repressor
*Transcription
*Xenopus
Abnormalities;Multiple/*genetics
Animals
Chromosome
DNA-Binding
Deletion
Factors
Fingers
Humans
Kruppel-Like
Mice
Mice;Mutant
Mutation
Phenotype
Proteins
Proteins/*genetics
Skull/abnormalities
Strains
Syndactyly/*genetics
Syndrome
Tissue
Transcription
Zinc
*Nerve*Repressor*Transcription*XenopusAbnormalities;Multiple/*geneticsAnimalsChromosomeDNA-BindingDeletionFactorsFingersHumansKruppel-LikeMiceMice;MutantMutationPhenotypeProteinsProteins/*geneticsSkull/abnormalitiesStrainsSyndactyly/*geneticsSyndromeTissueTranscriptionZinc
(0)
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1Chibby, a novel antagonist of the Wnt pathway, is not involved in Wilms tumor development
B. Zirn, S. Wittmann, N. Graf, und M. Gessler. Cancer Lett, 220 (1): 115--120 (2005)
vor 12 Jahren von @ebch
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Carrier
Chain
Humans
Intercellular
Kidney
Mutation
Neoplasms/*genetics
Nuclear
Peptides;Proteins/metabolism
Polymerase
Proteins
Proteins/*genetics
Reaction
Signal
Signaling
Transduction
Tumor/*genetics
Wilms
Wnt
CarrierChainHumansIntercellularKidneyMutationNeoplasms/*geneticsNuclearPeptides;Proteins/metabolismPolymeraseProteinsProteins/*geneticsReactionSignalSignalingTransductionTumor/*geneticsWilmsWnt
(0)
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1Human CC10, the homologue of rabbit uteroglobin: genomic cloning, chromosomal localization and expression in endometrial cell lines
M. Wolf, J. Klug, R. Hackenberg, M. Gessler, K. Grzeschik, M. Beato, und G. Suske. Hum Mol Genet, 1 (6): 371--378 (1992)
vor 12 Jahren von @ebch
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*Chromosomes;Human;Pair
11
Acid
Adenocarcinoma
Animals
Base
Blotting;Northern
Blotting;Southern
Cell
Cells;Cultured
Chromosome
Cloning;Molecular/methods
DNA/genetics/isolation
Data
Endometrial
Expression
Female
Gene
Genes;Regulator
Homology;Nucleic
Humans
Line
Lung
Mapping
Molecular
Neoplasms
Proteins/*genetics
RNA/genetics/isolation
Rabbits
Rats
Restriction
Sequence
Tumor
Uteroglobin/*genetics
purification
{\&}
*Chromosomes;Human;Pair11AcidAdenocarcinomaAnimalsBaseBlotting;NorthernBlotting;SouthernCellCells;CulturedChromosomeCloning;Molecular/methodsDNA/genetics/isolationDataEndometrialExpressionFemaleGeneGenes;RegulatorHomology;NucleicHumansLineLungMappingMolecularNeoplasmsProteins/*geneticsRNA/genetics/isolationRabbitsRatsRestrictionSequenceTumorUteroglobin/*geneticspurification{\&}
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1Subtype-specific FBXW7 mutation and MYCN copy number gain in Wilms' tumor
R. Williams, R. Al-Saadi, T. Chagtai, S. Popov, B. Messahel, N. Sebire, M. Gessler, J. Wegert, N. Graf, I. Leuschner und 4 andere Autor(en). Clin Cancer Res, 16 (7): 2036--2045 (2010)
vor 12 Jahren von @ebch
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*Gene
2
Amplification
Analysis;DNA
Cell
Child
Chromosomes;Human;Pair
Cycle
Deletion
Dosage/physiology
F-Box
Female
Gene
Genes;Wilms
Humans
Kidney
Ligases/*genetics
Mothers
Mutation
Neoplasms/classification/*genetics/pathology
Nuclear
Nucleotide
Oncogene
Polymorphism;Single
Proteins/*genetics
Sequence
Tumor
Tumor/classification/*genetics/pathology
Ubiquitin-Protein
Wilms
*Gene2AmplificationAnalysis;DNACellChildChromosomes;Human;PairCycleDeletionDosage/physiologyF-BoxFemaleGeneGenes;WilmsHumansKidneyLigases/*geneticsMothersMutationNeoplasms/classification/*genetics/pathologyNuclearNucleotideOncogenePolymorphism;SingleProteins/*geneticsSequenceTumorTumor/classification/*genetics/pathologyUbiquitin-ProteinWilms
(0)
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1Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations
N. Sevenet, A. Lellouch-Tubiana, D. Schofield, K. Hoang-Xuan, M. Gessler, D. Birnbaum, C. Jeanpierre, A. Jouvet, und O. Delattre. Hum Mol Genet, 8 (13): 2359--2368 (1999)
vor 12 Jahren von @ebch
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22/genetics
Chain
Chromatography;High
Chromosomal
Chromosomes;Human;Pair
DNA-Binding
DNA;Neoplasm/*genetics
Deletion
Factors
Gene
Genotype
Heterozygosity
Humans
Liquid
Loss
Mutation
Nucleotide
Phenotype
Point
Polymerase
Polymorphism;Single
Pressure
Proteins/*genetics
Proteins;Non-Histone
Reaction
Rhabdoid
Transcription
Tumor/*genetics
of
22/geneticsChainChromatography;HighChromosomalChromosomes;Human;PairDNA-BindingDNA;Neoplasm/*geneticsDeletionFactorsGeneGenotypeHeterozygosityHumansLiquidLossMutationNucleotidePhenotypePointPolymerasePolymorphism;SinglePressureProteins/*geneticsProteins;Non-HistoneReactionRhabdoidTranscriptionTumor/*geneticsof
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2Effects of two Gbetagamma-binding proteins--N-terminally truncated phosducin and beta-adrenergic receptor kinase C terminus (betaARKct)--in heart failure
Z. Li, K. Laugwitz, K. Pinkernell, I. Pragst, C. Baumgartner, E. Hoffmann, K. Rosport, G. Munch, A. Moretti, J. Humrich und 2 andere Autor(en). Gene Ther, 10 (16): 1354-61 (August 2003)Li, Z Laugwitz, K-L Pinkernell, K Pragst, I Baumgartner, C Hoffmann, E Rosport, K Munch, G Moretti, A Humrich, J Lohse, M J Ungerer, M England Gene therapy Gene Ther. 2003 Aug;10(16):1354-61..
vor 14 Jahren von @pharmawuerz
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&
AMP-Dependent
AMP/metabolism
Adenoviridae/genetics
Animal
Animals
Artificial
C
Cardiac
Cardiac/metabolism
Contraction
Cyclic
Eye
Failure/*therapy
GTP-Binding
Gene
Genetic
Heart
Heterotrimeric
Humans
Kinases
Kinases/*genetics
Models,
Myocardial
Myocardium/*metabolism
Myocytes,
Pacing,
Phospholipases/metabolism
Phosphoproteins/*genetics
Protein
Proteins/*genetics
Proteins/metabolism
Rabbits
Receptor
Regulators
Therapy/*methods
Type
Vectors/administration
beta-Adrenergic
dosage
&AMP-DependentAMP/metabolismAdenoviridae/geneticsAnimalAnimalsArtificialCCardiacCardiac/metabolismContractionCyclicEyeFailure/*therapyGTP-BindingGeneGeneticHeartHeterotrimericHumansKinasesKinases/*geneticsModels,MyocardialMyocardium/*metabolismMyocytes,Pacing,Phospholipases/metabolismPhosphoproteins/*geneticsProteinProteins/*geneticsProteins/metabolismRabbitsReceptorRegulatorsTherapy/*methodsTypeVectors/administrationbeta-Adrenergicdosage
(0)
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1The genomic clone G-21 which resembles a beta-adrenergic receptor sequence encodes the 5-HT1A receptor
A. Fargin, J. Raymond, M. Lohse, B. Kobilka, M. Caron, und R. Lefkowitz. Nature, 335 (6188): 358-60 (September 1988)Fargin, A Raymond, J R Lohse, M J Kobilka, B K Caron, M G Lefkowitz, R J Research Support, Non-U.S. Gov't England Nature Nature. 1988 Sep 22;335(6188):358-60..
vor 14 Jahren von @pharmawuerz
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Animals
Binding
Cloning,
Cultured
GTP-Binding
Haplorhini
Molecular
Protein
Proteins/*genetics
Serotonin/*genetics
Receptor
Cell
AnimalsBindingCloning,CulturedGTP-BindingHaplorhiniMolecularProteinProteins/*geneticsSerotonin/*geneticsReceptorCell
(0)
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1Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping

1Sequence of the WT1 upstream region including the Wit-1 gene

1Mouse gridlock: no aortic coarctation or deficiency, but fatal cardiac defects in Hey2 -/- mice

1The human MyoD1 (MYF3) gene maps on the short arm of chromosome 11 but is not associated with the WAGR locus or the region for the Beckwith-Wiedemann syndrome

1Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms

1Combined loss of Hey1 and HeyL causes congenital heart defects because of impaired epithelial to mesenchymal transition

1Phenotypic variability in Hey2 -/- mice and absence of HEY2 mutations in patients with congenital heart defects or Alagille syndrome

1Analysis of HeyL expression in wild-type and Notch pathway mutant mouse embryos

1Isolation of a yeast artificial chromosome contig spanning the Greig cephalopolysyndactyly syndrome (GCPS) gene region

1GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

1Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt)

1Chibby, a novel antagonist of the Wnt pathway, is not involved in Wilms tumor development

1Human CC10, the homologue of rabbit uteroglobin: genomic cloning, chromosomal localization and expression in endometrial cell lines

1Subtype-specific FBXW7 mutation and MYCN copy number gain in Wilms' tumor

1Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations

2Effects of two Gbetagamma-binding proteins--N-terminally truncated phosducin and beta-adrenergic receptor kinase C terminus (betaARKct)--in heart failure

1The genomic clone G-21 which resembles a beta-adrenergic receptor sequence encodes the 5-HT1A receptor

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