Webb20 feb. 2024 · STK4 protein expression was decreased in Stk4 Y88del/Y88del and Stk4 −/− mice (see Fig E1, E), confirming that the p.Y88del mutation affects protein stability, resulting in STK4 deficiency. Stk4 Y88del/Y88del and Stk4 −/− mice phenocopy the 2 patients with the mutation with increased IgE levels and decreased peripheral blood … Webb4 aug. 2024 · ClinVar archives and aggregates information about relationships among variation and human health. An official website ... AND Combined immunodeficiency due to STK4 deficiency. Clinical significance: Pathogenic (Last evaluated: Aug 4, 2024) Review ... The phenotype of human STK4 deficiency. Abdollahpour H, Appaswamy G, Kotlarz D ...
The phenotype of human STK4 deficiency. - Abstract
Webb18 nov. 2011 · STK4 is the human ortholog of Drosophila Hippo, the central constituent of a highly conserved pathway controlling cell growth and apoptosis. STK4-deficient … Webb17 rader · 12 apr. 2012 · STK4 is the human ortholog of Drosophila Hippo, the central constituent of a highly conserved ... flower shop and coffee bar
NM_006282.5(STK4):c.749G>A (p.Trp250Ter) AND Combined …
Webb9 okt. 2014 · The deficiency of IKAROS, a zinc finger transcription factor essential during hematopoiesis, 75 has been reported to be associated with hematologic malignancies (reviewed in Wang et al 76 ) and also with congenital pancytopenia in humans. 77 It is known to impede B- and NK-cell development and is thus suspected to cause an … WebbThe phenotype of human STK4 deficiency. Blood. 2012; 119: 3450-3457. Crossref; PubMed; Scopus (237) Google Scholar; Autoimmune cytopenia is a common feature in the disease. 12. Halacli S.O. Ayvaz D.C. Sun-Tan C. Erman B. Uz E. Yilmaz D.Y. et al. STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: a novel mutation. Webb12 okt. 2012 · STK4 deficiency results in a primary T-cell immunodeficiency syndrome characterized by progressive loss of naive T cells, recurrent bacterial, viral, and fungal infections, warts, and abscesses, autoimmune manifestations, and cardiac malformations, including atrial septal defect ( Abdollahpour et al., 2012; Nehme et al., 2012 ). Clinical … green bay court records