0000000000089721

AUTHOR

Markus Pauly

showing 2 related works from this author

Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia

2020

Introduction Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) occurs approximately 1 in 3.500 live births representing the most common malformation of the upper digestive tract. Only half a century ago, EA/TEF was fatal among affected newborns suggesting that the steady birth prevalence might in parts be due to mutational de novo events in genes involved in foregut development. Methods To identify mutational de novo events in EA/TEF patients, we surveyed the exome of 30 case-parent trios. Identified and confirmed de novo variants were prioritized using in silico prediction tools. To investigate the embryonic role of genes harboring prioritized de novo variants we perfor…

EmbryologyCandidate geneGene ExpressionTranscriptomeMiceDatabase and Informatics MethodsMedicine and Health SciencesExomeExomeExome sequencingGenetics0303 health sciencesMultidisciplinaryComputer-Aided Drug DesignQ030305 genetics & hereditySequence analysisRGenomicsCongenital AnomaliesDNA-Binding Proteinsembryonic structuresAmino Acid AnalysisMedicineTranscriptome AnalysisTracheoesophageal FistulaResearch ArticleDrug Research and DevelopmentBioinformaticsSequence analysisScienceIn silicoBiologyResearch and Analysis Methods03 medical and health sciencesExome SequencingGeneticsCongenital DisordersAnimalsHumansddc:610Molecular Biology TechniquesEsophageal AtresiaMolecular BiologyDNA sequence analysis030304 developmental biologyHomeodomain ProteinsPharmacologyMolecular Biology Assays and Analysis TechniquesGene Expression ProfilingEmbryosDNA HelicasesBiology and Life SciencesComputational BiologyEmbryo MammalianGenome AnalysisFANCBRepressor ProteinsGene expression profilingBiological DatabasesDrug DesignMutation DatabasesMutationDevelopmental Biology
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Second study on the recurrence risk of isolated esophageal atresia with or without trachea-esophageal fistula among first-degree relatives: no eviden…

2013

BACKGROUND Esophageal atresia with/without trachea-esophageal fistula (EA/TEF) denotes a spectrum of severe congenital malformations. The aim of this systematic study was to determine both the recurrence risk for EA/TEF, and the risk for malformations of the VATER/VACTERL association spectrum, in first-degree relatives of patients with isolated EA/TEF. METHODS A total of 108 unrelated patients with isolated EA/TEF were included. These individuals had 410 first-degree relatives including 194 siblings. The presence of EA/TEF and malformations of the VATER/VACTERL association spectrum in relatives was systematically assessed. Data from the EUROCAT network were used for comparison. RESULTS None…

AdultHeart Defects CongenitalMaleRiskEmbryologymedicine.medical_specialtyAdolescentFistulaInheritance PatternsLimb Deformities CongenitalAnal CanalKidneyGastroenterologyRecurrence riskAnus ImperforateEsophagusInternal medicinemedicineHumansEsophageal FistulaFirst-degree relativesChildEsophageal Atresiabusiness.industrySiblingsVATER/VACTERL ASSOCIATIONGeneral Medicinemedicine.diseaseVACTERL associationSpinePedigreeTracheaRadiusAtresiaCase-Control Studiesembryonic structuresPediatrics Perinatology and Child HealthCohortFemalebusinessDevelopmental BiologyTracheoesophageal FistulaBirth defects research. Part A, Clinical and molecular teratology
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