Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 3 of 3 for “"PCNT"”.
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Vascular Disease Pathogenesis In Smooth Muscle Dysfunction Syndrome and Majewski Osteodysplastic Primordial Dwarfism Type Ii
… to homozygous loss-of-function mutations in <em>PCNT</em>, which lead to primordial dwarfism and early onset occlusive vascular disease, including moyamoya disease and coronary artery disease. We examine the pathogenic mechanisms of vascular disease in MOPDII using a novel SMC-specific …
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Estudio molecular de pacientes colombianos afectados por enanismo esencial
… estudio se investigaron variantes en el gen PCNT debido a que presentaban hallazgos clínicos compatibles con el síndrome MOPD II (enanismo esencial osteodisplásico microcefálico tipo II). Posteriormente, se amplió el estudio con una secuenciación de exoma en una paciente con variantes …
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Mapping the cell cycle-dependent centrosomal interactome
… was fused with centrosomal proteins Centrin 2, PCNT and Cep192 to detect the centrosome interactome. The cell cycle-dependent interactome of the centrosome was mapped by combining proximity biotinylation and a reversible drug-mediated cell cycle synchronisation method based on the CDK4/6 …