0000000000444793

AUTHOR

Ute Fischer

showing 3 related works from this author

Anthraquinones from Ophiorrhiza pumila tissue and cell cultures

1998

We have succeeded in initiating and establishing systems of tissue and cell cultures of Ophiorrhiza pumila. Examination of the constituents of the methanol extract of the cultured calli revealed the presence of 11 anthraquinones including two new ones whose structures have been rigorously proved using advanced spectroscopic methods. These findings demonstrated a remarkable difference in the constituents between the wild plants and the callus tissue or cultured cells; the former is devoid of anthraquinones and contains a variety of camptothecin-related alkaloids whereas the latter contains a significant amount of anthraquinones and shows no indication of the presence of alkaloids after sever…

RubiaceaeAlkaloidCellPlant ScienceGeneral MedicineHorticultureBiologybiology.organism_classificationBiochemistrychemistry.chemical_compoundTissue culturemedicine.anatomical_structureBiosynthesischemistryBiochemistryCell cultureCallusAnthraquinonesBotanymedicineMolecular BiologyPhytochemistry
researchProduct

Characterization of the Clinical and Immunologic Phenotype and Management of 157 Individuals with 56 Distinct Heterozygous NFKB1 Mutations

2020

Contains fulltext : 229571.pdf (Publisher’s version ) (Closed access) BACKGROUND: An increasing number of NFKB1 variants are being identified in patients with heterogeneous immunologic phenotypes. OBJECTIVE: To characterize the clinical and cellular phenotype as well as the management of patients with heterozygous NFKB1 mutations. METHODS: In a worldwide collaborative effort, we evaluated 231 individuals harboring 105 distinct heterozygous NFKB1 variants. To provide evidence for pathogenicity, each variant was assessed in silico; in addition, 32 variants were assessed by functional in vitro testing of nuclear factor of kappa light polypeptide gene enhancer in B cells (NF-κB) signaling. RESU…

0301 basic medicineMaleNF-KAPPA-BMedizinlnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4]Fluorescent Antibody TechniqueAutoimmunityDiseaseNUCLEAR-FACTORKaplan-Meier Estimatemedicine.disease_causeHypogammaglobulinemia0302 clinical medicineNFKB1 variants and mutations; autosomal dominant inheritance; common variable immunodeficiency; reduced penetrance; variable expressivityHDE PEDImmunology and Allergyvariants and mutationsNF-κB1-related phenotypeImmunodeficiencyIMMUNODEFICIENCY*NF-?B1-related phenotypeNFKB1 variants and mutations1184 Genetics developmental biology physiologycommon variable immunodeficiencyDisease ManagementMiddle AgedNF-kappa B1-related phenotypereduced penetrancePrognosisPenetranceImmunohistochemistryMagnetic Resonance Imaging3. Good healthPhenotypeNFKB1 variant*NFKB1 variant*common variable immunodeficiencyFemaleHaploinsufficiency*reduced penetranceNFKB1 mutationAdultHeterozygote*NFKB1 mutationImmunologyHAPLOINSUFFICIENCYArticle03 medical and health sciencesvariable expressivityautosomal dominantmedicineHumansGenetic Predisposition to DiseaseGenetic Association StudiesAgedbusiness.industryCommon variable immunodeficiencyNF-kappa B p50 SubunitNF-KAPPA-B1Immune dysregulationmedicine.diseaseautosomal dominant inheritance030104 developmental biologyBiological Variation PopulationImmunologyCELLSMutation*autosomal dominantPrimary immunodeficiency3111 BiomedicinebusinessTomography X-Ray ComputedBiomarkers030215 immunology
researchProduct

Redefining the MED13L syndrome

2015

Congenital cardiac and neurodevelopmental deficits have been recently linked to the mediator complex subunit 13-like protein MED13L, a subunit of the CDK8-associated mediator complex that functions in transcriptional regulation through DNA-binding transcription factors and RNA polymerase II. Heterozygous MED13L variants cause transposition of the great arteries and intellectual disability (ID). Here, we report eight patients with predominantly novel MED13L variants who lack such complex congenital heart malformations. Rather, they depict a syndromic form of ID characterized by facial dysmorphism, ID, speech impairment, motor developmental delay with muscular hypotonia and behavioral difficu…

MaleAdolescentHeart malformationTransposition of Great VesselsRNA polymerase IIBioinformaticsArticleMediatorIntellectual DisabilityIntellectual disabilityGeneticsmedicineTranscriptional regulationHumansAbnormalities MultipleChildTranscription factorGenetics (clinical)GeneticsScience & TechnologyMediator ComplexbiologyMuscular hypotoniaSyndromemedicine.diseasePhenotypeChild PreschoolMutationbiology.proteinMuscle HypotoniaFemaleNeurocognitiveEuropean Journal of Human Genetics
researchProduct