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    Thermo Fisher gene exp mlkl hs00930421 m1
    Study family pedigree and FA2H and <t>MLKL</t> rare variant genotype. a Pedigree of the study family showing the segregation of rare, small nucleotide deletions in FA2H and MLKL . Circles represent women, squares men, the solid symbol represent the clinically affected index patients (brother II-2 and brother II-3, who is the proband), open symbols represent unaffected family members, and dotted symbols indicate heterozygous individuals. A slash through a symbol represents a deceased person; in this family this is the father of the patients, I-1, who passed away in 2015 at the age of 95 years. b FA2H NM_024306.4:c.32_34del variant genotype of the study family members as determined by Sanger sequencing. Sequences in bold are the three nucleotides and corresponding amino acid that are deleted. c MLKL rs561839347 variant genotype of the study family members as determined by Sanger sequencing. Sequences in bold represent the four nucleotides that are deleted. Italicized amino acids are novel residues in the predicted protein due to the frameshift.
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    Study family pedigree and FA2H and MLKL rare variant genotype. a Pedigree of the study family showing the segregation of rare, small nucleotide deletions in FA2H and MLKL . Circles represent women, squares men, the solid symbol represent the clinically affected index patients (brother II-2 and brother II-3, who is the proband), open symbols represent unaffected family members, and dotted symbols indicate heterozygous individuals. A slash through a symbol represents a deceased person; in this family this is the father of the patients, I-1, who passed away in 2015 at the age of 95 years. b FA2H NM_024306.4:c.32_34del variant genotype of the study family members as determined by Sanger sequencing. Sequences in bold are the three nucleotides and corresponding amino acid that are deleted. c MLKL rs561839347 variant genotype of the study family members as determined by Sanger sequencing. Sequences in bold represent the four nucleotides that are deleted. Italicized amino acids are novel residues in the predicted protein due to the frameshift.

    Journal: Cell Death & Disease

    Article Title: A novel neurodegenerative spectrum disorder in patients with MLKL deficiency

    doi: 10.1038/s41419-020-2494-0

    Figure Lengend Snippet: Study family pedigree and FA2H and MLKL rare variant genotype. a Pedigree of the study family showing the segregation of rare, small nucleotide deletions in FA2H and MLKL . Circles represent women, squares men, the solid symbol represent the clinically affected index patients (brother II-2 and brother II-3, who is the proband), open symbols represent unaffected family members, and dotted symbols indicate heterozygous individuals. A slash through a symbol represents a deceased person; in this family this is the father of the patients, I-1, who passed away in 2015 at the age of 95 years. b FA2H NM_024306.4:c.32_34del variant genotype of the study family members as determined by Sanger sequencing. Sequences in bold are the three nucleotides and corresponding amino acid that are deleted. c MLKL rs561839347 variant genotype of the study family members as determined by Sanger sequencing. Sequences in bold represent the four nucleotides that are deleted. Italicized amino acids are novel residues in the predicted protein due to the frameshift.

    Article Snippet: Real-time quantitative PCR was performed using TaqMan® Gene Expression Assays MLKL_Hs00930421_m1 and GAPDH_Hs02758991_g1.

    Techniques: Variant Assay, Sequencing

    MLKL variant expression and effect on necroptosis. a MLKL protein expression in PBMCs of the sister II-1, unrelated controls C1–C5 and the brothers, II-3 and II-2. The molecular weight, in kilodaltons (kDa), of full-length MLKL and of the predicted, truncated MLKL variant (which was not detectable), relative to the marker, are denoted by the arrows. GAPDH was used as the loading control. b Relative expression of MLKL messenger RNA (mRNA) in PBMCs from controls (sister II-1, and unrelated controls C1–C5; shown in blue) and the patients (brothers II-3 and II-2; shown in red), assessed in triplicate. c MLKL protein expression in unstimulated fibroblasts (−) and fibroblasts stimulated with 1000 ng/ml of IFNγ for 24 h (+). Lysate of HEK-293 cells transiently transfected with the truncated MLKL variant protein was used as a control. d Relative expression and upregulation of MLKL mRNA upon stimulation of fibroblasts from controls (sister II-1 and unrelated control F1; depicted as blue triangles and diamonds, respectively), and the patients (brothers II-3 and II-2; depicted as red squares and circles, respectively) with varying concentrations of IFNγ for 24 h. Three independent experiments were performed. e Proportion of dying fibroblasts from the controls (sister II-1 and unrelated control F1; depicted as blue triangles and diamonds, respectively), and the patients (brothers II-3 and II-2; depicted as red squares and circles, respectively) over an 87-h period. Necroptosis sensitization was achieved by RIPK3 transduction in the presence of 5 ng/ml IFNγ and 50 μM zVAD, and cell death was measured based on the uptake of IncuCyte® Cytotox Red Reagent. Four independent experiments were performed. Blue and dark blue asterisks (*) denote a statistically significant difference ( P

    Journal: Cell Death & Disease

    Article Title: A novel neurodegenerative spectrum disorder in patients with MLKL deficiency

    doi: 10.1038/s41419-020-2494-0

    Figure Lengend Snippet: MLKL variant expression and effect on necroptosis. a MLKL protein expression in PBMCs of the sister II-1, unrelated controls C1–C5 and the brothers, II-3 and II-2. The molecular weight, in kilodaltons (kDa), of full-length MLKL and of the predicted, truncated MLKL variant (which was not detectable), relative to the marker, are denoted by the arrows. GAPDH was used as the loading control. b Relative expression of MLKL messenger RNA (mRNA) in PBMCs from controls (sister II-1, and unrelated controls C1–C5; shown in blue) and the patients (brothers II-3 and II-2; shown in red), assessed in triplicate. c MLKL protein expression in unstimulated fibroblasts (−) and fibroblasts stimulated with 1000 ng/ml of IFNγ for 24 h (+). Lysate of HEK-293 cells transiently transfected with the truncated MLKL variant protein was used as a control. d Relative expression and upregulation of MLKL mRNA upon stimulation of fibroblasts from controls (sister II-1 and unrelated control F1; depicted as blue triangles and diamonds, respectively), and the patients (brothers II-3 and II-2; depicted as red squares and circles, respectively) with varying concentrations of IFNγ for 24 h. Three independent experiments were performed. e Proportion of dying fibroblasts from the controls (sister II-1 and unrelated control F1; depicted as blue triangles and diamonds, respectively), and the patients (brothers II-3 and II-2; depicted as red squares and circles, respectively) over an 87-h period. Necroptosis sensitization was achieved by RIPK3 transduction in the presence of 5 ng/ml IFNγ and 50 μM zVAD, and cell death was measured based on the uptake of IncuCyte® Cytotox Red Reagent. Four independent experiments were performed. Blue and dark blue asterisks (*) denote a statistically significant difference ( P

    Article Snippet: Real-time quantitative PCR was performed using TaqMan® Gene Expression Assays MLKL_Hs00930421_m1 and GAPDH_Hs02758991_g1.

    Techniques: Variant Assay, Expressing, Molecular Weight, Marker, Transfection, Transduction