0000000000312006

AUTHOR

A. Becker

showing 4 related works from this author

Mutation Analysis of Core Binding Factor A1 in Patients with Cleidocranial Dysplasia

1999

SummaryCleidocranial dysplasia (CCD) is a dominantly inherited disorder characterized by patent fontanelles, wide cranial sutures, hypoplasia of clavicles, short stature, supernumerary teeth, and other skeletal anomalies. We recently demonstrated that mutations in the transcription factor CBFA1, on chromosome 6p21, are associated with CCD. We have now analyzed the CBFA1 gene in 42 unrelated patients with CCD. In 18 patients, mutations were detected in the coding region of the CBFA1 gene, including 8 frameshift, 2 nonsense, and 9 missense mutations, as well as 2 novel polymorphisms. A cluster of missense mutations at arginine 225 (R225) identifies this residue as crucial for CBFA1 function. …

Core binding factorRecombinant Fusion ProteinsDNA Mutational AnalysisGreen Fluorescent ProteinsMolecular Sequence DataMutation MissenseHuman malformation syndromeCore Binding Factor Alpha 1 SubunitBiologyTransfectionmedicine.disease_causeBone and BonesCleidocranial dysplasiaCell LineFrameshift mutationCBFA1GeneticsmedicineHumansMissense mutationGenetics(clinical)SupernumeraryFrameshift MutationGenetics (clinical)Sequence DeletionGeneticsMutationPolymorphism GeneticCleidocranial DysplasiaCore Binding FactorsArticlesmedicine.diseaseOsteochondrodysplasiaNeoplasm ProteinsRadiographyNuclear localizationLuminescent ProteinsPhenotypeMicroscopy FluorescenceMutation testingTranscription factorHaploinsufficiencyToothTranscription FactorsThe American Journal of Human Genetics
researchProduct

370: Physical activity in patients newly listed for heart transplantation: Results from the “Waiting for a New Heart Study”

2007

Pulmonary and Respiratory MedicineHeart transplantationTransplantationmedicine.medical_specialtybusiness.industrymedicine.medical_treatmentPhysical activityEmergency medicinemedicinePhysical therapySurgeryIn patientCardiology and Cardiovascular MedicinebusinessThe Journal of Heart and Lung Transplantation
researchProduct

A laser ion source for trace analysis

1988

A laser ion source has been set up which is based on resonant stepwise excitation and ionization of atomic vapor confined in an ionization chamber. Using a pulsed copper vapor/dye laser system with a high repetition rate (6.5 kHz) one expects high efficiency and high selectivity for this new type of ion source. First test experiments with lead are reported.

Matrix-assisted laser desorption electrospray ionizationChemistryClinical BiochemistryAnalytical chemistryGeneral MedicineBiochemistryIon sourceAnalytical ChemistryAtmospheric-pressure laser ionizationIon beam depositionIonizationGeneral Materials SciencePhysics::Atomic PhysicsAtomic vapor laser isotope separationElectron ionizationAmbient ionizationFresenius Zeitschrift f�r Analytische Chemie
researchProduct

The regulation of trehalose metabolism in insects.

1996

Trehalose is a non-reducing disaccharide comprising two glucose molecules. It is present in high concentration as the main haemolymph (blood) sugar in insects. The synthesis of trehalose in the fat body (an organ analogous in function to a combination of liver and adipose tissue in vertebrates) is stimulated by neuropeptides (hypertrehalosaemic hormones), released from the corpora cardiaca, a neurohaemal organ associated with the brain. The peptides cause a decrease in the content of fructose 2,6-bisphosphate in fat body cells. Fructose 2,6-bisphosphate, acting synergistically with AMP, is a potent activator of the glycolytic enzyme 6-phosphofructokinase-1 and a strong inhibitor of the gluc…

PharmacologyInsectaMolecular Sequence DataTrehalase activityAdipose tissueTrehaloseFructoseCell BiologyBiologyTrehaloseCellular and Molecular Neurosciencechemistry.chemical_compoundFructose 26-bisphosphatechemistryBiochemistryCarbohydrate SequenceHemolymphMolecular MedicineAnimalsGlycolysisAmino Acid SequenceTrehalaseMolecular BiologyExperientia
researchProduct