Biblio
A Sox17 downstream gene Rasip1 is involved in the hematopoietic activity of intra-aortic hematopoietic clusters in the midgestation mouse embryo. Inflamm Regen. 2023;43(1):41.
Sox17 as a candidate regulator of myeloid restricted differentiation potential. Dev Growth Differ. 2014.
. Pluripotent cell-based phenotypic dissection identifies a high-frequency somatic NLRC4 mutation as a cause of autoinflammation. Arthritis Rheumatol. 2016.
Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy. Hum Mol Genet. 2023.
Induced Pluripotent Stem Cells and Their Use in Human Models of Disease and Development. Physiol Rev. 2019;99(1):79-114.
Generation of a human induced pluripotent stem cell line, BRCi001-A, derived from a patient with mucopolysaccharidosis type I. Stem Cell Res. 2019;36:101406.
Functional evaluation of the pathological significance of MEFV variants using induced pluripotent stem cell-derived macrophages. J Allergy Clin Immunol. 2019.
A disease-specific iPS cell resource for studying rare and intractable diseases. Inflamm Regen. 2023;43(1):43.
A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome. J Exp Med. 2024;221(6).