Search results for "Limb development"

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T-Box Genes in Drosophila Limb Development

2017

T-box genes are essential for limb development in vertebrates and arthropods. The Drosophila genome encodes eight T-box genes, six of which are expressed in limb ontogenesis. The Tbx20-related gene pair midline and H15 is essential for dorso-ventral patterning of the Drosophila legs. The three Tbx6-related Dorsocross genes are required for epithelial remodeling during wing development. The Drosophila gene optomotor-blind (omb) is the only member of the Tbx2 subfamily in the fly and is predominantly involved in wing development. Omb is essential for wing development and is sufficient to promote the development of a second wing pair. Targeted manipulations of omb expression have shown that th…

0301 basic medicineGeneticsanimal structuresWingSubfamilyBiologyCell biology03 medical and health sciencesImaginal disc030104 developmental biology0302 clinical medicineT-boxGene expressionLimb developmentCompartment (development)Gene030217 neurology & neurosurgery
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Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: Further evidence for the existence of a limb defect gene in 6q21

1995

Ectrodactyly is a developmental defect of the distal limbs characterized by marked clinical variability and genetic heterogeneity, also reflected in the observation of different chromosome abnormalities non randomly associated with longitudinal postaxial limb deficiencies. The one most frequently found in patients with split hand-split foot (SHSF) involves chromosome band 7q22. Recently, structural anomalies of chromosome 6q21 have been reported in 2 unrelated patients with SHSF, suggesting that this region may also contain genes responsible for limb development [Braverman et al., 1993. Am J Hum Genet, suppl 53: 410; Viljoen and Smart, 1993. Clin Dysmorph 2: 274-277]. We report on a third p…

MaleEctrodactylyEctromeliaUlnaChromosomal translocationGene mutationBiologySettore MED/03 - GENETICA MEDICATranslocation GeneticmedicineHumansLimb developmentGenetics (clinical)Chromosome 7 (human)Genetic heterogeneityInfant NewbornChromosomeAnatomymedicine.diseaseChromosome BandingChromosome BandSPLITKaryotypingChromosomes Human Pair 6Hand Deformities CongenitalChromosomes Human Pair 7Gene DeletionAmerican Journal of Medical Genetics
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