Search results for "cardiovascular defects"

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A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field

2016

International audience; The etiology of congenital heart defect (CHD) combines environmental and genetic factors. So far, there were studies reporting on the screening of a single gene on unselected CHD or on familial cases selected for specific CHD types. Our goal was to systematically screen a proband of familial cases of CHD on a set of genetic tests to evaluate the prevalence of disease-causing variant identification. A systematic screening of GATA4, NKX2-5, ZIC3 and Multiplex ligation-dependent probe amplification (MLPA) P311 Kit was setup on the proband of 154 families with at least two cases of non-syndromic CHD. Additionally, ELN screening was performed on families with supravalvula…

0301 basic medicineProbandMaleCardiomyopathy22q11.2Disease030204 cardiovascular system & hematologyBioinformatics0302 clinical medicinede-novoEpidemiology3 large registriesGenetics (clinical)zic3 mutationsGeneticsHigh-Throughput Nucleotide Sequencing3. Good healthPedigreeHomeobox Protein Nkx-2.5malformationsFemaleepidemiologyHeart Defects Congenitalmedicine.medical_specialtyGenetic counselingArticle03 medical and health sciences[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathologyMolecular geneticsGeneticsmedicineHumansMultiplex ligation-dependent probe amplificationGenetic TestingHomeodomain Proteinsdiseasebusiness.industryvariabilityGenetic Variationmedicine.diseaseGATA4 Transcription Factor030104 developmental biologyMutationEtiologycardiovascular defectsbusinessMultiplex Polymerase Chain Reactioncardiomyopathy[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyTranscription Factors
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Tbx1 regulates Vegfr3 and is required for lymphatic vessel development

2010

Defects in lymphangiogenesis are added to the broad clinical manifestations of DiGeorge syndrome, caused by deletion of the T box transcription factor Tbx1.

Vascular Endothelial Growth Factor ATBX1Cellular differentiationBiologyMice03 medical and health sciences0302 clinical medicinestomatognathic systemReportLymphatic vesselmedicineAnimalsHumansLymphangiogenesisEnhancerCells CulturedResearch ArticlesLymphatic Vessels030304 developmental biology0303 health sciencesABNORMAL CAROTID ARTERIES; TRANSGENIC MICE; VELOCARDIOFACIAL SYNDROME; CARDIOVASCULAR DEFECTS; LYMPHANGIOGENESIS; LYMPHEDEMA; MOUSE; RECEPTOR-3; MUTATION; SYSTEMEndothelial CellsGene Expression Regulation DevelopmentalCell DifferentiationCell BiologyEmbryo Mammalian3. Good healthLymphangiogenesisCell biologyVascular endothelial growth factor ALymphatic systemmedicine.anatomical_structureVascular endothelial growth factor Cembryonic structuresImmunologyT-Box Domain Proteins030217 neurology & neurosurgeryJournal of Cell Biology
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