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. 2021 May 14;108(6):1095–1114. doi: 10.1016/j.ajhg.2021.04.016

Figure 5.

Figure 5

LTBP1 variant-specific canonical TGFβ signaling responses

(A and D) Measurement of total TGFβ in 9 dpc conditioned media obtained from fibroblast cultures derived from individuals F1:IV-2 and F4:II-1 and respective sex- and age-matched control subjects.

(B, C, E, and F) Quantification of CTGF and POSTN expression by RT-qPCR.

(G–J) Immunoblot of intracellular lysates at 1 dpc obtained from fibroblast cultures derived from individuals F1:IV-2 and F4:II-1 and respective sex- and age-matched control subjects. One of the control subjects was stimulated with TGFβ as positive control.

(K–N) Representative images demonstrating immunofluorescent analysis of collagen I and collagen III fibers in 9 dpc fibroblast cultures stimulated with ascorbate. Scale bar represents 50 μm.

(O–T) Quantification of COL1A1, COL1A2, and COL3A1 expression by RT-qPCR after ascorbate stimulation. Data are expressed as mean ± SD. ∗p value < 0.05, ∗∗p value < 0.01, ∗∗∗∗p value < 0.0001. Two-tailed unpaired t test with Welch’s correction was used for statistical analysis.