GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations.
Sign Up to like & getrecommendations! Published in 2020 at "Bone"
DOI: 10.1016/j.bone.2020.115803
Abstract: INTRODUCTION Brachydactyly is a bone development abnormality presenting with variable phenotypes and different transmission patterns. Mutations in GDF5 (Growth and Differentiation Factor 5, MIM *601146) account for a significant amount of cases. Here, we report… read more here.
Keywords: phenotype; genotype phenotype; phenotype correlations; analysis ... See more keywords
GDF5 induces TBX3 in a concentration dependent manner - on a gold nanoparticle gradient
Sign Up to like & getrecommendations! Published in 2020 at "Heliyon"
DOI: 10.1016/j.heliyon.2020.e04133
Abstract: Organs and tissues, such as cartilage and limbs, are formed during development through an orchestration of growth factors that function as morphogens. Examples of growth factors include growth differentiation factor 5 (GDF5) and transforming growth… read more here.
Keywords: growth factors; gdf5; gradient; concentration ... See more keywords
Intra-articular therapy with recombinant human GDF5 arrests disease progression and stimulates cartilage repair in the rat medial meniscus transection (MMT) model of osteoarthritis.
Sign Up to like & getrecommendations! Published in 2017 at "Osteoarthritis and cartilage"
DOI: 10.1016/j.joca.2016.11.002
Abstract: OBJECTIVE Investigation of osteoarthritis (OA) risk alleles suggests that reduced levels of growth and differentiation factor-5 (GDF5) may be a precipitating factor in OA. We hypothesized that intra-articular recombinant human GDF5 (rhGDF5) supplementation to the… read more here.
Keywords: progression; osteoarthritis; gdf5; rhgdf5 ... See more keywords
Application of 3D MAPs pipeline identifies the morphological sequence chondrocytes undergo and the regulatory role of GDF5 in this process
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DOI: 10.1038/s41467-021-25714-0
Abstract: The activity of epiphyseal growth plates, which drives long bone elongation, depends on extensive changes in chondrocyte size and shape during differentiation. Here, we develop a pipeline called 3D Morphometric Analysis for Phenotypic significance (3D… read more here.
Keywords: pipeline; chondrocytes undergo; gdf5; sequence chondrocytes ... See more keywords
Brachdactyly Instigated as a Result of Mutation in GDF5 and NOG Genes in Pakistani Population
Sign Up to like & getrecommendations! Published in 2018 at "Pakistan Journal of Medical Sciences"
DOI: 10.12669/pjms.341.12885
Abstract: Objectives: Brachdactyly a genetic disorder associated with the abnormal development of metacarpals, phalanges or both which results in the shortening of hands and feet. Mutations in the contributing genes has been recognized with the majority… read more here.
Keywords: gdf5 nog; gdf5; mutation gdf5; genes pakistani ... See more keywords