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The paired box gene 6 (PAX6) is an essential transcription factor for eye formation. Genetic alterations in PAX6 can lead to various ocular malformations including aniridia. The purpose of this study was to identify genetic defects as the underlying cause of familial coloboma of iris in a large Chin...
ORGANISM(S): Homo sapiens 
Syndactyly type 1 (SD1) is an autosomal dominant limb malformation characterized in its classical form by complete or partial webbing between the third and fourth fingers and/or the second and third toes. Four subtypes (a, b, c and d) are defined based on variable phenotypes, but the disease gene...
ORGANISM(S): Homo sapiens 
Time-resolved proteomic profiling of SGs from cultured human U2OS cells over a prolonged heat-shock (HS) and a successive recovery period, sampling at the 6 time points of HS exposure (10, 20, 30, 60, 120, 180 min), as well as 2 time points of recovery (5, 10 min). From the sampled cells, we prepare...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2023-08-30 | MSV000092790 | MassIVE
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