0000000000398764

AUTHOR

Antonio Baldini

0000-0002-5330-0256

showing 2 related works from this author

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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Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome

1998

The LIM-homeodomain protein Lmxlb plays a central role in dorso-ventral patterning of the vertebrate limb1. Targeted disruption of Lmxlb results in skeletal defects including hypoplas-tic nails, absent patellae and a unique form of renal dysplasia (see accompanying manuscript by H. Chen et al.; ref. 2). These features are reminiscent of the dominantly inherited skeletal malformation nail patella syndrome (NFS). We show that LMX1B maps to the NFS locus and that three independent NFS patients carry de novo heterozygous mutations in this gene. Functional studies show that one of these mutations disrupts sequence-specific DNA binding, while the other two mutations result in premature terminatio…

HeterozygotePathologymedicine.medical_specialtyLIM-Homeodomain ProteinsMolecular Sequence DataLocus (genetics)BiologyKidneyBone and BonesMiceGene mappingNail-Patella SyndromeGeneticsmedicineAnimalsHumansAmino Acid SequenceGeneBody PatterningNail patella syndromeHomeodomain ProteinsGeneticsBase SequenceDysostosismedicine.diseasePhenotypeRenal dysplasiaMutationHomeotic geneTranscription FactorsNature Genetics
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