Helsinki Children's Hospital

Interplay between fibroblast growth factor 9 (FGF9) and CD44 underlies 46,XY disorders of sex development in Kruppel‐like factor 1 (KLF‐1)‐E325K‐associated congenital dyserythropoietic anaemia (CDA‐IV)

Summary A heterozygous Kruppel‐like factor 1 (KLF1) E325K mutation causes a severe form of congenital dyserythropoietic anaemia (CDA), designated CDA‐IV (Online Mendelian Inheritence in Man, OMIM 613673), a rare disease with only 15 cases known. In addition to haemolytic anaemia,...

Craniofacial growth in Mulibrey nanism and impact of growth hormone treatment

Abstract Background Mulibrey nanism (MUL) impacts cellular metabolism and leads to severe prenatal onset growth restriction, distinctive craniofacial features, heart disease, hypogonadism, and predisposition to tumors. Growth hormone therapy is commonly used in treatment of patie...

Early development of cortical networks is modulated by Family Nurture Intervention: a multicenter replication study

Abstract Background Prematurity is associated with a high risk of abnormal neurodevelopment, inflicting life-long neurocognitive consequences with major public health importance. This calls for early biomarkers of functional brain development to serve as indicators of the effect...

Preferential Retention of the LMP-1 Promoter at EBV Integration Sites in Lymphomas: Evidence from Cartilage Hair Hypoplasia and Controls

Abstract Purpose Cartilage-Hair Hypoplasia (CHH), a rare ribosomopathy characterized by immune deficiency, carries a markedly increased risk of early-onset malignancy, particularly lymphoma. However, the molecular drivers of malignant transformation in CHH, and the contribution o...