0000000001012240

AUTHOR

A. Von Deimling

showing 2 related works from this author

Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease

2001

BACKGROUNDHirschsprung disease (HSCR) is a frequent congenital disorder with an incidence of 1 in 5000 live births, characterised by the absence of parasympathetic intramural ganglion cells in the hindgut resulting in intestinal obstruction in neonates and severe constipation in infants and adults. Intestinal neuronal dysplasia (IND) shares clinical features with HSCR but the submucosal parasympathetic plexus is affected. IND has been proposed as one of the most frequent causes of chronic constipation and is often associated with HSCR.METHODSWe examined 29 patients diagnosed with sporadic HSCR, 20 patients with IND, and 12 patients with mixed HSCR/IND for mutations in the coding regions of …

Pathologymedicine.medical_specialtyGlial Cell Line-Derived Neurotrophic Factor ReceptorsHirschsprung diseaseMUTATION ANALYSISNerve Tissue ProteinsTYROSINE KINASEEDNRBArticleExonGermline mutationProto-Oncogene ProteinsNEUROTROPHIC FACTOR GDNFmedicineGlial cell line-derived neurotrophic factorDrosophila ProteinsHumansGlial Cell Line-Derived Neurotrophic FactorNerve Growth FactorsAlleleintestinal neuronal dysplasiaAllelesPolymorphism Single-Stranded ConformationalIntestinal neuronal dysplasiabiologyReceptors EndothelinSHAH-WAARDENBURG SYNDROMEProto-Oncogene Proteins c-retENDOTHELIN-B-RECEPTORMULTIGENIC INHERITANCEGastroenterologyReceptor Protein-Tyrosine KinasesSequence Analysis DNAGERMLINE MUTATIONSbiochemical phenomena metabolism and nutritionPROTOONCOGENEmedicine.diseasePHENOTYPIC-EXPRESSIONGDNFPedigreeProto-Oncogene Proteins c-retDysplasiaCase-Control StudiesMutationbiology.proteinLIGANDRETCongenital disorderEDN3
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P08.76 Anti-EGFL7 treatment as an add-on for glioma therapy

2016

Glioblastoma multiforme (GBM) is one the most common and malignant forms of brain tumors. The median survival time of patients diagnosed with primary GBM is around 15 months. In spite of multimodal treatments GBMs remain essentially incurable. Therefore, alternative treatments targeting previously unexplored aspects of GBMs are required. However, the molecular mechanisms underlying the formation of brain tumors have only partially been defined. Especially Notch, a conserved developmental pathway, is promising in terms of GBM formation, as components of this signaling cascade are aberrantly expressed in gliomas. Studies reported that the inhibition of Notch decreased glioma cell proliferatio…

Cancer ResearchText miningOncologybusiness.industryP08 Glioblastom and Anaplastic gliomasGliomaCancer researchMedicineEGFL7Neurology (clinical)businessmedicine.diseasenervous system diseases
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