Journal: Scientific Reports

Article Title: Experimental pulmonary arterial hypertension in mice with a pathogenic SOX17 variant

doi: 10.1038/s41598-026-46893-0

Figure Lengend Snippet: Clinical course of a patient with SOX17 p.Pro133Ala variant and its structural changes. ( A ) The clinical time-course of the patient with severe pulmonary arterial hypertension who has the heterozygous SOX17 c.397 C > G (p.Pro133Ala) variant. The patient died shortly after right heart catheterization at X + 14 months. The blue line shows mean pulmonary arterial pressure (mPAP), the orange line shows pulmonary vascular resistance (PVR), and the black line shows serum levels of B-type natriuretic peptide (BNP). The medications are shown above the graph. ( B ) The 3D structure of HMG box of SOX17 for wild type (red) and Pro133Ala mutation (yellow). A change of p.Pro133Ala position is demonstrated as the black structure. The double-strand DNA structure is indicated in light blue. PDE5, phosphodiesterase type 5; p.o., per os.

Article Snippet: Single-stranded oligodeoxynucleotide was described in supplemental figure A. Sox17 +/p.Pro133Ala mice were generated using electroporation technique done by Charles River Laboratories (Supplemental Figure A).

Techniques: Variant Assay, Medications, Mutagenesis

Journal: Scientific Reports

Article Title: Experimental pulmonary arterial hypertension in mice with a pathogenic SOX17 variant

doi: 10.1038/s41598-026-46893-0

Figure Lengend Snippet: Gene expression is regulated by the Sox17 +/p.Pro133Ala variant. Changes in gene expression in Sox17 +/p.Pro133Ala mice (hetero) compared with wild-type mice were analyzed using RNA-sequencing and displayed as a volcano plot ( A ) and heat map ( B ). ( C ) Changes in gene expression in both groups were assessed using gene ontology analysis.

Article Snippet: Single-stranded oligodeoxynucleotide was described in supplemental figure A. Sox17 +/p.Pro133Ala mice were generated using electroporation technique done by Charles River Laboratories (Supplemental Figure A).

Techniques: Gene Expression, Variant Assay, RNA Sequencing

Journal: Scientific Reports

Article Title: Experimental pulmonary arterial hypertension in mice with a pathogenic SOX17 variant

doi: 10.1038/s41598-026-46893-0

Figure Lengend Snippet: Therapeutic intervention of the AhR signaling pathway in Sox17 +/p.Pro133Ala mice. ( A ) Relative gene expression of cytochrome p450 1b1 ( Cyp1b1 ). Right ventricle (RV)/body weight (BW) ( B ), Fulton index ( C ), right ventricular systolic pressure (RVSP) ( D ) were measured in wild-type and Sox17 +/p.Pro133Ala mice (hetero) with or without CH-223,191, respectively. ( E ) Images of the pulmonary arteries of mice observed by Elastica van Gieson staining. Scale bars, 50 μm. ( F ) Medial wall thickness (MWT) was also measured. ns = not significant. * p < 0.05.

Article Snippet: Single-stranded oligodeoxynucleotide was described in supplemental figure A. Sox17 +/p.Pro133Ala mice were generated using electroporation technique done by Charles River Laboratories (Supplemental Figure A).

Techniques: Gene Expression, Staining

Journal: Scientific Reports

Article Title: Experimental pulmonary arterial hypertension in mice with a pathogenic SOX17 variant

doi: 10.1038/s41598-026-46893-0

Figure Lengend Snippet: Gene expressions associated with Sox17 variant and AhR signals. ( A ) The number of genes whose expression was changed by genotype and administration of CH-223,191 in RNA-sequencing using lung tissues. ( B ) The number of genes narrowed down by the criteria described in the method section. Upper panel: genes whose expression is decreased in Sox17 +/p.Pro133Ala mice (hetero) compared with wild-type mice, lower panel: genes whose expression is increased in Sox17 +/p.Pro133Ala mice compared with wild-type mice. Relative gene expressions of Bmpr2 ( C ), Col4a1 ( D ), and Col4a2 ( E ) measured by qPCR. ns = not significant. * p < 0.05. AhR, aryl hydrocarbon receptor; Bmpr2, bone morphogenetic protein receptor type 2; Col4a, collagen, type IV, alpha; GAPDH, glyceraldehyde-3-phosphate dehydrogenase.

Article Snippet: Single-stranded oligodeoxynucleotide was described in supplemental figure A. Sox17 +/p.Pro133Ala mice were generated using electroporation technique done by Charles River Laboratories (Supplemental Figure A).

Techniques: Variant Assay, Expressing, RNA Sequencing

Journal: Scientific Reports

Article Title: Experimental pulmonary arterial hypertension in mice with a pathogenic SOX17 variant

doi: 10.1038/s41598-026-46893-0

Figure Lengend Snippet: Graphical abstract. AhR, aryl hydrocarbon receptor; Bmpr2, bone morphogenetic protein receptor type 2; Col4a, collagen, type IV, alpha; Cyp1b1, cytochrome P450 family 1 subfamily B member 1; SOX17, SRY-box transcription factor 17. Created in https://BioRender.com .

Article Snippet: Single-stranded oligodeoxynucleotide was described in supplemental figure A. Sox17 +/p.Pro133Ala mice were generated using electroporation technique done by Charles River Laboratories (Supplemental Figure A).

Techniques: