Figure 1.
Pedigree and platelet characteristics of SLFN14 K219N carriers. (A) Pedigree showing affected family members (black symbols) with TP. The presence of the K219N SLFN14 variant is indicated when tested. (B) Peripheral blood smears (May-Grünwald-Giemsa stain; original magnification ×500) of patients IV.2 and III.4 showing platelet anisocytosis with the presence of small and large, hypogranular, platelets. Note the presence of microcytic erythrocytes. (C) Representative immunoblot analysis of SLFN14 protein expression in platelets from patients IV.2 and III.4 and 2 unrelated age- and gender-matched controls for each patient (top). The expression of GP1BA was used as a loading control and for normalization. Marker lanes are indicated as M. Quantification of triplicate immunoblots show a significant reduction in SLFN14 expression in platelets from patients with SLFN14 compared with 4 healthy controls (bottom). Boxplots represent the middle 50% of the data points, with 25% outliers as whiskers and the mean as a black horizontal line. All individual data points were added as dots to the graph. Three technical replicates were performed for each sample. P values were determined using the Wilcoxon test. (D) Representative electrophoresis image showing rRNA degradation of the 28S and 18S peaks (arrows) for platelet RNA samples of patients IV.2 and III.4, compared with platelet RNA from 3 unrelated controls. The concentration of total RNA (ng/μL) for the different samples was added below the figure. (E) Representative brightfield microscopy images illustrating proplatelet formation in blood-derived stem cell cultures after 8 days of MK differentiation showing shorter proplatelets with reduced ramification in cultures from patients IV.2 and III.4, compared with the control. Scale bar, 100 μm. (F) Quantification of the RIN values obtained for RNA samples from days 6 and 8 MK differentiated from blood-derived stem cells of patients IV.2 and III.4 vs a control (4 technical replicates for control days 6 and 8, patient IV.2 days 6 and 8, and patient III.4 day 8, 5 technical replicates for patient III.4 day 6). Statistical analyses were performed using the Wilcoxon test.

Pedigree and platelet characteristics of SLFN14 K219N carriers. (A) Pedigree showing affected family members (black symbols) with TP. The presence of the K219N SLFN14 variant is indicated when tested. (B) Peripheral blood smears (May-Grünwald-Giemsa stain; original magnification ×500) of patients IV.2 and III.4 showing platelet anisocytosis with the presence of small and large, hypogranular, platelets. Note the presence of microcytic erythrocytes. (C) Representative immunoblot analysis of SLFN14 protein expression in platelets from patients IV.2 and III.4 and 2 unrelated age- and gender-matched controls for each patient (top). The expression of GP1BA was used as a loading control and for normalization. Marker lanes are indicated as M. Quantification of triplicate immunoblots show a significant reduction in SLFN14 expression in platelets from patients with SLFN14 compared with 4 healthy controls (bottom). Boxplots represent the middle 50% of the data points, with 25% outliers as whiskers and the mean as a black horizontal line. All individual data points were added as dots to the graph. Three technical replicates were performed for each sample. P values were determined using the Wilcoxon test. (D) Representative electrophoresis image showing rRNA degradation of the 28S and 18S peaks (arrows) for platelet RNA samples of patients IV.2 and III.4, compared with platelet RNA from 3 unrelated controls. The concentration of total RNA (ng/μL) for the different samples was added below the figure. (E) Representative brightfield microscopy images illustrating proplatelet formation in blood-derived stem cell cultures after 8 days of MK differentiation showing shorter proplatelets with reduced ramification in cultures from patients IV.2 and III.4, compared with the control. Scale bar, 100 μm. (F) Quantification of the RIN values obtained for RNA samples from days 6 and 8 MK differentiated from blood-derived stem cells of patients IV.2 and III.4 vs a control (4 technical replicates for control days 6 and 8, patient IV.2 days 6 and 8, and patient III.4 day 8, 5 technical replicates for patient III.4 day 6). Statistical analyses were performed using the Wilcoxon test.

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