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geleophysic dysplasia (53) 53
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microfilament proteins - genetics (6) 6
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Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2018, Volume 176, Issue 11, pp. 2237 - 2242
Geleophysic dysplasia is a rare skeletal dysplasia often complicated by progressive cardiac disease. Information about long‐term outcomes is limited. A... 
geleophysic dysplasia | aortic aneurysm | aortic stenosis | GD1 | TAVR | ADAMTSL2 | GENETICS & HEREDITY | FIBRILLIN-1 | MARFAN | MUTATIONS | PROTEINS | Dysplasia | Missense mutation | Nonsense mutation | Bone dysplasia | Skeleton | Mutation | Heart diseases | Coronary artery disease | Genetic screening
Journal Article
Journal Article
Matrix Biology, ISSN 0945-053X, 09/2019, Volume 82, pp. 38 - 53
Geleophysic dysplasia is a rare, frequently lethal condition characterized by severe short stature with progressive joint contractures, cardiac, pulmonary, and... 
Skeletal growth | Geleophysic dysplasia | Fibrillin microfibrils | Acromelic dysplasia | ADAMTS-like protein | Tendon | Bone morphogenetic proteins | Dysplasia | Growth | Developmental biology | Analysis | Index Medicus
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 12/2019, Volume 21
Geleophysic dysplasia (GPHYSD1, MIM231050; GPHYSD2, MIM614185; GPHYSD3, MIM617809) is an autosomal disorder characterized by short-limb dwarfism,... 
Connective tissue disorder | TGF-β signaling | ADAMTSL2 | Geleophysic dysplasia
Journal Article
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 09/2019, Volume 7, Issue 9, pp. e844 - n/a
Staining for fibrillin 1 (FBN1; red) showed improved microfibril deposition after losartan treatment in fibroblasts from geleophysic dysplasia (GPHYSD) and... 
geleophysic dysplasia | losartan | intracytoplasmic inclusions | extracellular matrix | Dysplasia | Disease | Genes | Lysosomes | Inclusions | Electron microscopy | Fibrillin | Defects | Proteins | Signaling | Storage | Microscopy | Angiotensin | Microfibrils | Fibroblasts | Conflicts of interest | Skin | Mutation | Angiotensin II | Growth factors | Hispanics | Deposition | Age | Index Medicus
Journal Article
Indian Journal of Ophthalmology, ISSN 0301-4738, 03/2013, Volume 61, Issue 3, pp. 122 - 124
Journal Article
FASEB journal : official publication of the Federation of American Societies for Experimental Biology, ISSN 0892-6638, 02/2019, Volume 33, Issue 2, pp. 2707 - 2718
Mutations in the a disintegrin and metalloproteinase with thrombospondin motif-like 2 (ADAMTSL2) gene are responsible for the autosomal recessive form of... 
geleophysic dysplasia | mouse model | extracellular matrix | cartilage | MATRIX | TGF-BETA | BIOCHEMISTRY & MOLECULAR BIOLOGY | DYSPLASIA | PROLIFERATION | BIOAVAILABILITY | CELL BIOLOGY | GROWTH | BIOLOGY | FIBRILLIN-1 | MUTATIONS | DIFFERENTIATION | PROTEINS | Life Sciences
Journal Article
Journal Article